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chromosome 22q deletion

Parkinson's chromosome deletion linked to other genetic disorders

Researchers, led by BRC-supported Professor Nicholas Wood, UCL Institute of Neurology, have made a breakthrough in their understanding of Parkinson’s disease after they discovered a chromosome deletion linked to Parkinson’s disease and other genetic disorders. More...

Prof John Hardy

Prof John Hardy is the first UK winner of $3m Breakthrough Prize in Life Sciences

Professor John Hardy (UCL Institute of Neurology) has been awarded the $3 million Breakthrough Prize in Life Sciences for his pioneering research into the genetic causes of Alzheimer’s disease, other forms of dementia and Parkinson’s disease. More...

John Hardy, PhD, right, accepted the 2015 Robert A. Pritzker Prize from MJFF VP Brian Fiske, PhD, and Michael J. Fox on April 15.

John Hardy awarded 2015 Robert A. Pritzker Prize for Leadership in Parkinson's Research

One of the UK Parkinson's Disease Consortium Principal Investigators, Prof John Hardy, has been awarded the 2015 Robert A. Pritzker Prize for his leadership in Parkinson's genetics research. The award was presented by Michael J. Fox at a ceremony in New York on April 15. From the Michael J. Fox Foundation website: More...

Webcast - Prof Nicholas Wood - Advances in Genetic Understanding of Parkinson's Disease.

Video: Advances in Genetic Understanding of Parkinson's Disease

Webcast of the presentation entitled ‘Advances in Genetic Understanding of Parkinson's Disease’ given by Nicholas Wood (University College London, United Kingdom) presented at the Biochemical Society Hot Topic event, PINK1-Parkin Signalling in Parkinson’s Disease and Beyond, held in December 2014. More...

Pedigrees and I-FP-CIT SPECT scan images of the four families with GCH1 mutations involved in this study.

GCH1 gene and Parkinson's risk

A study published in Brain, led by researchers at UCL Institute of Neurology, has shown that genetic mutations which cause a decrease in dopamine production in the brain and lead to a form of childhood-onset Dystonia, also play a role in the development of Parkinson’s disease.
More...

Henry Houlden

(Senior Lecturer and Consultant Neurologist)

Prof Houlden's clinical and laboratory research interest are Neurodegeneration, Peripheral Nerve Disease, Ataxia, Neurogenetics and Neurorehabilitation.

The combination of genetic, functional cell biology and neuropathological methods is a particularly powerful approach for understanding neurological diseases and their pathological processes. Given the rapid advances in genetic technology and knowledge, the analysis of RNA, protein expression and protein interactions in human tissue will become central to neurological research. It is likely that the next 10 years will see the development of treatments for human diseases based on these advances. Therefore, the collection of clinically characterised neuropathological material is pivotal to future research.

His research group is carrying out a programme of genetic and pathological investigations into human neurodegeneration. We have recently identified two ataxia genes and we are working on a number of disease genes in ataxia, peripheral neuropathy, parkinson's disease and dementia. These genetic and neuropathological studies integrating functional in vitro research will translate this research into disease modifying treatment for human diseases.

Methods used are Bioinformatic analysis, Gene expression profiling - tissue level, Genetic manipulation (including knockout/knockin) , Genetically encoded reporters/indicators, Genetic screens, Genomic analyses, Histology, Immunohistochemistry, Linkage, mapping and positional cloning, Microarrays, Proteomic.

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Number of items: 487.

2015

Arber, C; Li, A; Houlden, H; Wray, S; (2015) Insights into molecular mechanisms of disease in Neurodegeneration with Brain Iron Accumulation; unifying theories. Neuropathol Appl Neurobiol 10.1111/nan.12242.

Baets, J; Duan, X; Wu, Y; Smith, G; Seeley, WW; Mademan, I; McGrath, NM; (2015) Defects of mutant DNMT1 are linked to a spectrum of neurological disorders. Brain , 138 (Pt 4) 845 - 861. 10.1093/brain/awv010.

Brady, S; Healy, EG; Gang, Q; White, B; Jacob, S; Houlden, H; Holton, JL; (2015) Pathological evaluation of myopathies with tubular aggregates and cylindrical spirals. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 45 - 46).

Ernst, D; Murphy, SM; Sathiyanadan, K; Wei, Y; Othman, A; Laurá, M; Liu, YT; (2015) Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity. Neuromolecular Med , 17 (1) 47 - 57. 10.1007/s12017-014-8339-1.

Ernst, D; Wei, Y; Othman, A; Hornemann, T; Murphy, SM; Blake, J; Donaghy, M; (2015) Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That Is Involved in Regulating Substrate Specificity. NeuroMolecular Medicine , 17 (1) 47 - 57. 10.1007/s12017-014-8339-1.

Erro, R; Hersheson, J; Houlden, H; Bhatia, KP; (2015) A novel TUBB4A mutation suggests that genotype-phenotype correlation of H-ABC syndrome needs to be revisited. Brain 10.1093/brain/awu403.

Federoff, M; Schottlaender, LV; Houlden, H; Singleton, A; (2015) Multiple system atrophy: the application of genetics in understanding etiology. Clin Auton Res , 25 (1) 19 - 36. 10.1007/s10286-014-0267-5.

Fratta, P; Mizielinska, S; Poulter, M; Beck, J; Devoy, A; Collins, T; Adamson, G; (2015) Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion. Neurobiology of Aging , 36 (1) 546.e1 - 546.e7. 10.1016/j.neurobiolaging.2014.07.037. Green open access
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Fratta, P; Polke, JM; Newcombe, J; Mizielinska, S; Lashley, T; Poulter, M; Beck, J; (2015) Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion. Neurobiol Aging , 36 (1) 546.e1 - 546.e7. 10.1016/j.neurobiolaging.2014.07.037.

Gami, P; Murray, C; Schottlaender, L; Bettencourt, C; Mudanohwo, E; Polke, J; Revesz, T; (2015) Comparative clinical, genetic and pathological study of C9orf72 expansion repeat cases. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 25 - 26).

Gang, Q; Bettencourt, C; Machado, PM; Fox, Z; Brady, S; Healy, E; Parton, M; (2015) The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis. Neurobiol Aging , 36 (4) 1766.e1 - 1766.e3. 10.1016/j.neurobiolaging.2014.12.039. Green open access
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Gang, Q; Bettencourt, C; Machado, PM; Hanna, MG; Houlden, H; Brady, S; Healy, E; (2015) The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis. Neurobiology of Aging , 36 (4) 1766.e1 - 1766.e3. 10.1016/j.neurobiolaging.2014.12.039.

Gang, Q; Machado, P; Bettencourt, C; Brady, S; Healy, E; Parton, M; Holton, JL; (2015) Using whole-exome sequencing to identify mutations of SQSTM1 and VCP in inclusion body myositis. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 44 - 44).

Hufnagel, RB; Arno, G; Hein, ND; Hersheson, J; Prasad, M; Anderson, Y; Krueger, LA; (2015) Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. J Med Genet , 52 (2) 85 - 94. 10.1136/jmedgenet-2014-102856.

Karaszewski, B; Houlden, H; Smith, EE; Markus, HS; Charidimou, A; Levi, C; Werring, DJ; (2015) What causes intracerebral bleeding after thrombolysis for acute ischaemic stroke? Recent insights into mechanisms and potential biomarkers. J Neurol Neurosurg Psychiatry 10.1136/jnnp-2014-309705.

Kiely, AP; Ling, H; Asi, YT; Kara, E; Limousin, P; Lewis, P; Proukakis, C; (2015) Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 31 - 31).

Morgan, S; Shoai, M; Fratta, P; Sidle, K; Orrell, R; Sweeney, MG; Shatunov, A; (2015) Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis. Neurobiol Aging , 36 (3) 1600.e5 - 1600.e8. 10.1016/j.neurobiolaging.2014.12.017.

Morgan, S; Shoai, M; Hardy, J; Pittman, A; Houlden, H; Fratta, P; Sidle, K; (2015) Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis. Neurobiology of Aging , 36 (3) 1600.e5 - 1600.e8. 10.1016/j.neurobiolaging.2014.12.017.

Paudel, R; Strand, C; Bandopadhyay, R; de Silva, R; Wiethoff, S; Li, A; Houlden, H; (2015) Beta-propeller protein associated neurodegeneration: Neuropathological features. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 33 - 34).

Rossor, AM; Oates, EC; Salter, HK; Liu, Y; Murphy, SM; Schule, R; Gonzalez, MA; (2015) Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. Brain , 138 (Pt 2) 293 - 310. 10.1093/brain/awu356.

Scalco, RS; Gardiner, A; Godfrey, R; Olpin, SE; Kirk, R; Majumdar, A; Murphy, E; (2015) Extensive genetic investigation in recurrent rhabdomyolysis and vacuolar myopathy: an undiagnosed case report. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 45 - 45).

Scholz, SW; Majounie, E; Revesz, T; Holton, JL; Okun, MS; Houlden, H; Singleton, AB; (2015) Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions. Neurobiol Aging , 36 (2) 1223.e1 - 1223.e2. 10.1016/j.neurobiolaging.2014.08.033.

Scholz, SW; Majounie, E; Singleton, AB; Revesz, T; Holton, JL; Houlden, H; Okun, MS; (2015) Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions. Neurobiology of Aging , 36 (2) 1223.e1 - 1223.e2. 10.1016/j.neurobiolaging.2014.08.033.

Schottlaender, LV; Petzold, A; Wood, N; Houlden, H; (2015) Diagnostic clues and manifesting carriers in fukutin-related protein (FKRP) limb-girdle muscular dystrophy. J Neurol Sci , 348 (1-2) 266 - 268. 10.1016/j.jns.2014.12.008.

Schottlaender, LV; Polke, JM; Ling, H; MacDoanld, ND; Tucci, A; Nanji, T; Pittman, A; (2015) Erratum to "The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism", [Neurobiol. Aging, 36, (2015), 1221.e1-1221.e6], doi:10.1016/j.neurobiolaging.2014.08.024. Neurobiology of Aging , 36 (4) 1768 - 1768. 10.1016/j.neurobiolaging.2015.02.027.

Schottlaender, LV; Polke, JM; Ling, H; MacDoanld, ND; Tucci, A; Nanji, T; Pittman, A; (2015) The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism. Neurobiol Aging , 36 (2) 1221.e1 - 1221.e6. 10.1016/j.neurobiolaging.2014.08.024. Green open access
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Schottlaender, LV; Polke, JM; Ling, H; Tucci, A; Nanji, T; Pittman, A; de Silva, R; (2015) The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism. Neurobiology of Aging , 36 (2) 1221.e1 - 1221.e6. 10.1016/j.neurobiolaging.2014.08.024.

2014

Ahmed, RM; Murphy, E; Davagnanam, I; Parton, M; Schott, JM; Mummery, CJ; Rohrer, JD; (2014) A practical approach to diagnosing adult onset leukodystrophies. J Neurol Neurosurg Psychiatry , 85 (7) 770 - 781. 10.1136/jnnp-2013-305888.

Ahmed, RM; Schott, JM; Mummery, CJ; Rohrer, JD; Fox, NC; Murphy, E; Lachmann, RH; (2014) A practical approach to diagnosing adult onset leukodystrophies. Journal of Neurology, Neurosurgery and Psychiatry , 85 (7) 770 - 781. 10.1136/jnnp-2013-305888.

Asi, YT; Lees, AJ; Revesz, T; Holton, JL; Simpson, JE; Heath, PR; Wharton, SB; (2014) Alpha-synuclein mRNA expression in oligodendrocytes in MSA. GLIA , 62 (6) 964 - 970. 10.1002/glia.22653.

Asi, YT; Simpson, JE; Heath, PR; Wharton, SB; Lees, AJ; Revesz, T; Houlden, H; (2014) Alpha-synuclein mRNA expression in oligodendrocytes in MSA. Glia , 62 (6) pp. 964-970. 10.1002/glia.22653. Green open access
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Beaufort, N; Scharrer, E; Kremmer, E; Lux, V; Ehrmann, M; Huber, R; Houlden, H; (2014) Cerebral small vessel disease-related protease HtrA1 processes latent TGF-β binding protein 1 and facilitates TGF-β signaling. Proc Natl Acad Sci U S A , 111 (46) 16496 - 16501. 10.1073/pnas.1418087111.

Beck, J; Pittman, A; Adamson, G; Campbell, T; Kenny, J; Houlden, H; Rohrer, JD; (2014) Validation of next-generation sequencing technologies in genetic diagnosis of dementia. Neurobiol Aging , 35 (1) 261 - 265. 10.1016/j.neurobiolaging.2013.07.017.

Berardo, A; Schottlaender, L; Houlden, H; Leiguarda, R; Reisin, R; (2014) Nueva mutación en SPG11 en una paciente con paraplejía espástica hereditaria complicada: Hallazgos clínicos-electrofisiológicos y moleculares. Neurologia Argentina 10.1016/j.neuarg.2014.01.009.

Bertini, E; Houlden, H; (2014) Defects of RNA metabolism in the pathogenesis of spinal muscular atrophy. Neurology , 82 (15) 1298 - 1299. 10.1212/WNL.0000000000000321.

Bettencourt, C; Ryten, M; Forabosco, P; Schorge, S; Hersheson, J; Hardy, J; Houlden, H; (2014) Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia. JAMA Neurol , 71 (7) 831 - 839. 10.1001/jamaneurol.2014.756.

Boizot, A; Talmat-Amar, Y; Morrogh, D; Kuntz, NL; Halbert, C; Chabrol, B; Houlden, H; (2014) The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test. Acta Neuropathol Commun , 2 47 - ?. 10.1186/2051-5960-2-47.

Cottenie, E; Kochanski, A; Jordanova, A; Bansagi, B; Zimon, M; Horga, A; Jaunmuktane, Z; (2014) Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. Am J Hum Genet , 95 (5) 590 - 601. 10.1016/j.ajhg.2014.10.002. Green open access
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Dale, RC; Gardiner, A; Branson, JA; Houlden, H; (2014) Benefit of carbamazepine in a patient with hemiplegic migraine associated with PRRT2 mutation. Dev Med Child Neurol , 56 (9) 910 - ?. 10.1111/dmcn.12396.

Dale, RC; Gardiner, A; Houlden, H; Branson, JA; (2014) Benefit of carbamazepine in a patient with hemiplegic migraine associated with PRRT2 mutation. Developmental Medicine and Child Neurology , 56 (9) 910 - 910. 10.1111/dmcn.12396.

Dusi, S; Valletta, L; Haack, TB; Tsuchiya, Y; Venco, P; Pasqualato, S; Goffrini, P; (2014) Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. Am J Hum Genet , 94 (1) 11 - 22. 10.1016/j.ajhg.2013.11.008.

Dusi, S; Valletta, L; Venco, P; Invernizzi, F; Garavaglia, B; Tiranti, V; Haack, TB; (2014) Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. American Journal of Human Genetics , 94 (1) 11 - 22. 10.1016/j.ajhg.2013.11.008.

Erro, R; Hersheson, J; Ganos, C; Mencacci, NE; Stamelou, M; Batla, A; Thust, SC; (2014) H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations? Mov Disord 10.1002/mds.26129.

Gang, Q; Bettencourt, C; Machado, P; Hanna, MG; Houlden, H; (2014) Sporadic inclusion body myositis: the genetic contributions to the pathogenesis. Orphanet J Rare Dis , 9 , Article 88. 10.1186/1750-1172-9-88. Green open access
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Heckman, MG; Schottlaender, L; Soto-Ortolaza, AI; Diehl, NN; Rayaprolu, S; Ogaki, K; Fujioka, S; (2014) LRRK2 exonic variants and risk of multiple system atrophy. Neurology , 83 (24) 2256 - 2261. 10.1212/WNL.0000000000001078.

Hemsch, MJ; Houlden, HP; (2014) Repeatability modeling for wind-tunnel measurements: Results for three langley facilities. 52nd AIAA Aerospace Sciences Meeting - AIAA Science and Technology Forum and Exposition, SciTech 2014

Hensman Moss, DJ; Poulter, M; Beck, J; Hehir, J; Polke, JM; Campbell, T; Adamson, G; (2014) C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies. Neurology , 82 (4) 292 - 299. 10.1212/WNL.0000000000000061.

Hersheson, J; Burke, D; Clayton, R; Anderson, G; Jacques, TS; Mills, P; Wood, NW; (2014) Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology. Neurology , 83 (20) 1873 - 1875. 10.1212/WNL.0000000000000981.

Horga, A; Pitceathly, RD; Blake, JC; Woodward, CE; Zapater, P; Fratter, C; Mudanohwo, EE; (2014) Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia. Brain , 137 (Pt 12) 3200 - 3212. 10.1093/brain/awu279. Green open access
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Jacques, TS; Andersen, G; Hersheson, J; Burke, D; Clayton, R; Mills, P; Wood, N; (2014) Distinctive muscle pathology in patients with mutations in the Cathepsin D gene. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 16 - 17).

Jaffer, F; Avbersek, A; Kaski, JP; Parton, M; Houlden, H; Hanna, MG; Cross, JH; (2014) CARDIAC FEATURES IN ADULTS WITH ALTERNATING HEMIPLEGIA. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY.

Jaffer, F; Gardiner, A; Polke, J; Pittman, A; Prabhakar, P; Kurian, M; Sweeney, M; (2014) THE CLINICAL AND GENETIC SPECTRUM OF HEMIPLEGIC MIGRAINE. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY.

Kara, E; Bras, J; Wood, NW; Hardy, J; Houlden, H; Hernandez, D; Xiromerisiou, G; (2014) Assessment of Parkinson's disease risk loci in Greece. Neurobiology of Aging , 35 (2) 10.1016/j.neurobiolaging.2013.07.011.

Kara, E; Kiely, A; Proukakis, C; Giffin, N; Love, S; Hehir, J; Rantell, K; (2014) A 6.4MB duplication of the alpha-synuclein locus causing frontotemporal dementia and Parkinsonism - phenotype-genotype correlations. MOVEMENT DISORDERS , 29 S54 - S54.

Kara, E; Kiely, AP; Proukakis, C; Giffin, N; Love, S; Hehir, J; Rantell, K; (2014) A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations. JAMA Neurology , 71 (9) 1162 - 1171. 10.1001/jamaneurol.2014.994.

Kara, E; Xiromerisiou, G; Spanaki, C; Bozi, M; Koutsis, G; Panas, M; Dardiotis, E; (2014) Assessment of Parkinson's disease risk loci in Greece. Neurobiol Aging , 35 (2) 442.e9 - 442.e16. 10.1016/j.neurobiolaging.2013.07.011.

Kiely, AP; Asi, YT; Kara, E; Limousin, P; Ling, H; Lewis, P; Proukakis, C; (2014) How do G51D SNCA mutation cases compare clinically and neuropathologically to SNCA duplication and H50Q SNCA mutation? In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 11 - 12).

Koutsis, G; Kladi, A; Karadima, G; Houlden, H; Wood, NW; Christodoulou, K; Panas, M; (2014) Friedreich's ataxia and other hereditary ataxias in Greece: an 18-year perspective. J Neurol Sci , 336 (1-2) 87 - 92. 10.1016/j.jns.2013.10.012.

Koutsis, G; Kladi, A; Karadima, G; Panas, M; Houlden, H; Wood, NW; Christodoulou, K; (2014) Friedreich's ataxia and other hereditary ataxias in Greece: An 18-year perspective. Journal of the Neurological Sciences , 336 (1-2) 87 - 92. 10.1016/j.jns.2013.10.012.

Kruer, MC; Salih, MA; Mooney, C; Alzahrani, J; Alkuraya, F; Elmalik, SA; Kabiraj, MM; (2014) C19orf12 mutation leads to a pallido-pyramidal syndrome. Gene , 537 (2) 352 - 356. 10.1016/j.gene.2013.11.039.

Kruer, MC; Salih, MA; Mooney, C; Alzahrani, J; Elmalik, SA; Kabiraj, MM; Khan, AO; (2014) C19orf12 mutation leads to a pallido-pyramidal syndrome. Gene , 537 (2) 352 - 356. 10.1016/j.gene.2013.11.039.

Ling, H; Kara, E; Revesz, T; Lees, AJ; Plant, GT; Martino, D; Houlden, H; (2014) Concomitant progressive supranuclear palsy and chronic traumatic encephalopathy in a boxer. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 40 - 41).

Ling, H; Kara, E; Revesz, T; Lees, AJ; Plant, GT; Martino, D; Houlden, H; (2014) Concomitant progressive supranuclear palsy and chronic traumatic encephalopathy in a boxer. Acta Neuropathol Commun , 2 (1) , Article 24. 10.1186/2051-5960-2-24. Green open access
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Ling, H; Lees, A; Kara, E; de Silva, R; Li, A; Kiely, A; Courtney, R; (2014) Slowly progressive L-dopa responsive parkinsonism with neurofibrillary tangle pathology: A new clinicopathological entity? In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 13 - 13).

Liu, Y-T; Laura, M; Hersheson, J; Horga, A; Jaunmuktane, Z; Brandner, S; Pittman, A; (2014) Extended phenotypic spectrum of KIF5A mutations. NEUROLOGY , 83 (7) 612 - 619.

Liu, Y-T; Laurá, M; Reilly, MM; Houlden, H; Hersheson, J; Fawcett, K; Duberley, KEC; (2014) Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein:Clinical, genetic and biochemical characterisation. Journal of Neurology, Neurosurgery and Psychiatry , 85 (5) 493 - 498. 10.1136/jnnp-2013-306483.

Liu, YT; Laurá, M; Hersheson, J; Horga, A; Jaunmuktane, Z; Brandner, S; Pittman, A; (2014) Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy. Neurology , 83 (7) 612 - 619. 10.1212/WNL.0000000000000691.

Machado, PM; Ahmed, M; Brady, S; Gang, Q; Healy, E; Morrow, JM; Wallace, AC; (2014) Ongoing developments in sporadic inclusion body myositis. Curr Rheumatol Rep , 16 (12) , Article 477. 10.1007/s11926-014-0477-9. Green open access
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Manole, A; Fratta, P; Houlden, H; (2014) Recent advances in bulbar syndromes: Genetic causes and disease mechanisms. Current Opinion in Neurology , 27 (5) 506 - 514. 10.1097/WCO.0000000000000133.

Manole, A; Fratta, P; Houlden, H; (2014) Recent advances in bulbar syndromes: genetic causes and disease mechanisms. Curr Opin Neurol , 27 (5) 506 - 514. 10.1097/WCO.0000000000000133.

Mencacci, NE; Isaias, IU; Reich, MM; Ganos, C; Plagnol, V; Polke, JM; Bras, J; (2014) Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. BRAIN , 137 2480 - 2492. 10.1093/brain/awu179.

Mencacci, NE; Isaias, IU; Reich, MM; Ganos, C; Plagnol, V; Polke, JM; Bras, J; (2014) Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. Brain , 137 (9) pp. 2480-2492. 10.1093/brain/awu179. Green open access
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Nalls, MA; Pankratz, N; Lill, CM; Do, CB; Hernandez, DG; Saad, M; DeStefano, AL; (2014) Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nat Genet , 46 (9) 989 - 993. 10.1038/ng.3043.

Nowak, VA; Bremner, F; Massey, L; Wokke, B; Moosavi, R; Kara, E; Houlden, H; (2014) Kjellin syndrome: hereditary spastic paraplegia with pathognomonic macular appearance. Pract Neurol , 14 (4) 278 - 279. 10.1136/practneurol-2014-000861.

Paudel, R; Kiely, A; Li, A; Lashley, T; Bandopadhyay, R; Hardy, J; Jinnah, HA; (2014) Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions. Acta Neuropathol Commun , 2 (1) , Article 159. 10.1186/s40478-014-0159-x. Green open access
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Perumal, MB; Kovac, S; Shah, A; Wood, N; Houlden, H; Eriksson, S; Walker, M; (2014) Hypersomnia with dilated pupils in adenosine monophosphate deaminase (AMPD) deficiency. J Sleep Res , 23 (1) 118 - 120. 10.1111/jsr.12085.

Proukakis, C; Shoaee, M; Morris, J; Brier, T; Kara, E; Sheerin, UM; Charlesworth, G; (2014) Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations. Mov Disord , 29 (8) 060-1064. 10.1002/mds.25883. Green open access
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Proukakis, C; Shoaee, M; Morris, J; Brier, T; Schapira, AH; Kara, E; Sheerin, U-M; (2014) Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations. Movement Disorders , 29 (8) 1060 - 1064. 10.1002/mds.25883.

Scalco, RS; Pitceathly, RDS; Gardiner, A; Woodward, C; Polke, JM; Sweeney, MG; Olpin, SE; (2014) Utilising next-generation sequencing to determine the genetic basis of recurrent rhabdomyolysis. In: NEUROMUSCULAR DISORDERS. (pp. 801 - 801).

Schottlaender, LV; Holton, JL; Houlden, H; (2014) Multiple system atrophy and repeat expansions in C9orf72. JAMA Neurol , 71 (9) 1190 - 1191. 10.1001/jamaneurol.2014.1808.

Schottlaender, LV; Houlden, H; (2014) Mutant COQ2 in Multiple-System Atrophy [5]. New England Journal of Medicine , 371 (1) 81 - 81. 10.1056/NEJMc1311763.

Schottlaender, LV; Houlden, H; Multiple-System Atrophy (MSA) Brain Bank Collaboration, ; (2014) Mutant COQ2 in multiple-system atrophy. N Engl J Med , 371 (1) 81 - ?. 10.1056/NEJMc1311763#SA3.

Silveira-Moriyama, L; Ryten, M; Forabosco, P; Lees, A; Houlden, H; Hardy, J; Warner, T; (2014) White matter involvement may explain phenotypic pleiotropy amongst genes involved in episodic movement disorders. In: MOVEMENT DISORDERS. (pp. 1847 - 1848).

Stamelou, M; Charlesworth, G; Cordivari, C; Schneider, SA; Kaegi, G; Sheerin, U-M; Rubio-Agusti, I; (2014) The Phenotypic Spectrum of DYT24 Due to ANO3 Mutations. MOVEMENT DISORDERS , 29 (7) 928 - 934. 10.1002/mds.25802.

Stamelou, M; Charlesworth, G; Cordivari, C; Schneider, SA; Kägi, G; Sheerin, UM; Rubio-Agusti, I; (2014) The phenotypic spectrum of DYT24 due to ANO3 mutations. Mov Disord , 29 (7) pp. 928-934. 10.1002/mds.25802. Green open access
file

Thomas, AC; Williams, H; Seto-Salvia, N; Bacchelli, C; Jenkins, D; O'Sullivan, M; Mengrelis, K; (2014) Mutations in SNX14 cause a distinctive autosomal recessive cerebellar ataxia and intellectual disability syndrome. The American Journal of Human Genetics , 95 (5) pp. 611-621. 10.1016/j.ajhg.2014.10.007. Green open access
filefile

Tucci, A; Liu, Y-T; Preza, E; Pitceathly, RDS; Trabzuni, D; Ryten, M; Reilly, MM; (2014) Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. Journal of Neurology, Neurosurgery and Psychiatry , 85 (5) 486 - 492. 10.1136/jnnp-2013-306387.

Wiethoff, S; Bettencourt, C; Hardy, J; Houlden, H; Xiromerisiou, G; Tsiptsios, I; Tychalas, A; (2014) Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis. Journal of the Neurological Sciences , 339 (1-2) 220 - 222. 10.1016/j.jns.2014.01.034.

Wiethoff, S; Xiromerisiou, G; Bettencourt, C; Kioumi, A; Tsiptsios, I; Tychalas, A; Evaggelia, M; (2014) Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis. J Neurol Sci , 339 (1-2) 220 - 222. 10.1016/j.jns.2014.01.034.

2013

Alg, VS; Sofat, R; Houlden, H; Werring, DJ; (2013) Genetic risk factors for intracranial aneurysms: a meta-analysis in more than 116,000 individuals. Neurology , 80 (23) 2154 - 2165. 10.1212/WNL.0b013e318295d751. Green open access
file

Asi, YT; Houlden, H; Lees, AJ; Revesz, T; Holton, JL; (2013) Regional expression of alpha-synuclein in multiple system atrophy. MOVEMENT DISORDERS , 28 S277 - S277.

Bartolome, F; Wu, H-C; Burchell, VS; Preza, E; Wray, S; Houlden, H; Hardy, J; (2013) Pathogenic VCP Mutations Induce Mitochondrial Uncoupling and Reduced ATP Levels. Neuron , 78 (1) 57 - 64. 10.1016/j.neuron.2013.02.028.

Bartolome, F; Wu, HC; Burchell, VS; Preza, E; Wray, S; Mahoney, CJ; Fox, NC; (2013) Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels. Neuron , 78 (1) 57 - 64. 10.1016/j.neuron.2013.02.028. Green open access
file

Beck, J; Poulter, M; Hensman, D; Rohrer, JD; Mahoney, CJ; Adamson, G; Campbell, T; (2013) Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. Am J Hum Genet , 92 (3) 345 - 353. 10.1016/j.ajhg.2013.01.011.

Beck, J; Poulter, M; Hensman, D; Rohrer, JD; Mahoney, CJ; Adamson, G; Campbell, T; (2013) Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. Am J Hum Genet , 92 (3) 345 - 353. 10.1016/j.ajhg.2013.01.011.

Bettencourt, C; Morris, HR; Singleton, AB; Hardy, J; Houlden, H; (2013) Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment. Journal of Neurology , 260 (9) pp. 2414-2416. 10.1007/s00415-013-7044-6. Green open access
file

Bettencourt, C; Morris, HR; Singleton, AB; Hardy, J; Houlden, H; (2013) Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment. J Neurol , 260 (9) 2414 - 2416. 10.1007/s00415-013-7044-6.

Burchell, VS; Delgado-Camprubi, M; Wray, S; Lewis, PA; Houlden, H; Abramov, AY; Hardy, J; (2013) The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy. Nature Neuroscience , 16 (9) 1257 - 1265. 10.1038/nn.3489.

Burchell, VS; Nelson, DE; Sanchez-Martinez, A; Delgado-Camprubi, M; Ivatt, RM; Pogson, JH; Randle, SJ; (2013) The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy. Nat Neurosci , 16 (9) 1257 - 1265. 10.1038/nn.3489.

Cottenie, E; Menezes, MP; Rossor, AM; Morrow, JM; Blake, JC; Houlden, H; Reilly, MM; (2013) Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy. Neuromuscular Disorders , 23 (5) 399 - 403. 10.1016/j.nmd.2013.01.010.

Cottenie, E; Menezes, MP; Rossor, AM; Morrow, JM; Yousry, TA; Dick, DJ; Anderson, JR; (2013) Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy. Neuromuscul Disord , 23 (5) 399 - 403. 10.1016/j.nmd.2013.01.010.

Cregg, R; Laguda, B; Werdehausen, R; Cox, JJ; Linley, JE; Ramirez, JD; Bodi, I; (2013) Novel mutations mapping to the fourth sodium channel domain of Nav1.7 result in variable clinical manifestations of primary erythromelalgia. Neuromolecular Med , 15 (2) 265 - 278. 10.1007/s12017-012-8216-8. Gold open access

Cregg, R; Werdehausen, R; Cox, JJ; Linley, JE; Wood, JN; Laguda, B; Agnew, K; (2013) Novel mutations mapping to the fourth sodium channel domain of nav1.7 result in variable clinical manifestations of primary erythromelalgia. NeuroMolecular Medicine , 15 (2) 265 - 278. 10.1007/s12017-012-8216-8.

Duran, R; Mencacci, NE; Angeli, AV; Shoai, M; Deas, E; Houlden, H; Mehta, A; (2013) The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease. Movement Disorders , 28 (2) 232 - 236. 10.1002/mds.25248. Green open access
file

Fawcett, K; Liu, Y-T; Revesz, T; Herscheson, J; Schottlaender, L; Giunti, P; Wood, N; (2013) The frequency of spinocerebellar ataxia type 23 in a UK population. Journal of Neurology , 260 (3) 856 - 859. 10.1007/s00415-012-6721-1.

Fawcett, K; Mehrabian, M; Liu, YT; Hamed, S; Elahi, E; Revesz, T; Koutsis, G; (2013) Erratum to: The frequency of spinocerebellar ataxia type 23 in a UK population. J Neurol , 260 (3) 860 - ?. 10.1007/s00415-012-6791-0.

Fawcett, K; Mehrabian, M; Liu, YT; Hamed, S; Elahi, E; Revesz, T; Koutsis, G; (2013) The frequency of spinocerebellar ataxia type 23 in a UK population. J Neurol , 260 (3) 856 - 859. 10.1007/s00415-012-6721-1.

Foley, AR; Menezes, MP; Pandraud, A; Gonzalez, MA; Al-Odaib, A; Abrams, AJ; Sugano, K; (2013) Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain , 137 (1) , Article awt315. 10.1093/brain/awt315. Green open access
filefile

Gonzalez, M; McLaughlin, H; Houlden, H; Guo, M; Yo-Tsen, L; Hadjivassilious, M; Speziani, F; (2013) Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. J Neurol Neurosurg Psychiatry , 84 (11) 1247 - 1249. 10.1136/jnnp-2013-305049.

Gonzalez, M; Speziani, F; Züchner, S; McLaughlin, H; Antonellis, A; Houlden, H; Liu, Y-T; (2013) Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. Journal of Neurology, Neurosurgery and Psychiatry , 84 (11) 1247 - 1249. 10.1136/jnnp-2013-305049.

Guerreiro, R; Kara, E; Le Ber, I; Bras, J; Rohrer, JD; Taipa, R; Lashley, T; (2013) Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene. JAMA Neurol , 70 (7) 875 - 882. 10.1001/jamaneurol.2013.698.

Hammer, MB; Eleuch-Fayache, G; Schottlaender, LV; Nehdi, H; Gibbs, JR; Arepalli, SK; Chong, SB; (2013) Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. Am J Hum Genet , 92 (2) 245 - 251. 10.1016/j.ajhg.2012.12.012.

Hardy, J; (2013) Reply to Letter: Identical twins with leucine rich repeat kinase type 2 mutations discordant for Parkinson's disease. Mov Disord , 28 (4) 561 - 562. 10.1002/mds.25415.

Hayflick, SJ; Kruer, MC; Gregory, A; Haack, TB; Kurian, MA; Houlden, HH; Anderson, J; (2013) β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain , 136 (Pt 6) 1708 - 1717. 10.1093/brain/awt095.

Hersheson, J; Mencacci, NE; Davis, M; MacDonald, N; Trabzuni, D; Ryten, M; Pittman, A; (2013) Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Ann Neurol , 73 (4) 546 - 553. 10.1002/ana.23832.

Hersheson, J; Mencacci, NE; Davis, M; Trabzuni, D; Ryten, M; Pittman, A; Paudel, R; (2013) Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Annals of Neurology , 73 (4) 546 - 553. 10.1002/ana.23832.

Houlden, H; (2013) Defective N-linked protein glycosylation pathway in congenital myasthenic syndromes. Brain , 136 (Pt 3) 692 - 695. 10.1093/brain/awt042.

Kalmar, B; Kolaszynska, AK; Rossor, AM; Houlden, H; Schiavo, G; Reilly, MM; Greensmith, L; (2013) AXONAL TRANSPORT DEFICITS AND INCREASED VULNERABILITY TO OXIDATIVE STRESS IN MUTANT HSPB1 (HSP27)-INDUCED DISTAL HEREDITARY MOTOR NEUROPATHIES. In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. (pp. 54 - 54).

Kara, E; Hardy, J; Houlden, H; (2013) The pallidopyramidal syndromes: Nosology, aetiology and pathogenesis. Current Opinion in Neurology , 26 (4) 381 - 394. 10.1097/WCO.0b013e3283632e83. Green open access
file

Kara, E; Hardy, J; Houlden, H; (2013) The pallidopyramidal syndromes: nosology, aetiology and pathogenesis. Curr Opin Neurol , 26 (4) 381 - 394. 10.1097/WCO.0b013e3283632e83.

Kara, E; Lewis, PA; Ling, H; Houlden, H; Hardy, J; Proukakis, C; (2013) α-Synuclein mutations cluster around a putative protein loop. Neuroscience Letters , 546 67 - 70. 10.1016/j.neulet.2013.04.058.

Kara, E; Lewis, PA; Ling, H; Proukakis, C; Houlden, H; Hardy, J; (2013) α-Synuclein mutations cluster around a putative protein loop. Neurosci Lett , 546 67 - 70. 10.1016/j.neulet.2013.04.058. Green open access
file

Kara, E; Schottlaender, L; Berardo, A; Reisin, R; Hehir, J; Hughes, D; Paudel, R; (2013) SPG11 sequencing in worldwide populations of familial and sporadic spastic paraplegia patients reveals frequent mutations and the common association of parkinsonian features. MOVEMENT DISORDERS , 28 S397 - S397.

Karadima, G; Koutsis, G; Floroskufi, P; Houlden, H; Panas, M; (2013) A study of hereditary motor and sensory neuropathies (Charcot-Marie-Tooth disease) in the Greek population. Archives of Hellenic Medicine , 30 (2) 186 - 196. Gold open access

Kiely, AP; Asi, YT; Kara, E; Limousin, P; Ling, H; Lewis, P; Proukakis, C; (2013) Clinical and neuropathological features of synucleinopathy associated with G51D SNCA mutation. MOVEMENT DISORDERS , 28 S277 - S277.

Kiely, AP; Asi, YT; Kara, E; Limousin, P; Ling, H; Lewis, P; Proukakis, C; (2013) α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy? Acta Neuropathologica , 125 (5) 753 - 769. 10.1007/s00401-013-1096-7. Green open access
filefilefile

Kiely, AP; Asi, YT; Kara, E; Limousin, P; Ling, H; Lewis, P; Proukakis, C; (2013) Synucleinopathy with a G51D a-synuclein mutation: a neuropathological and genetic study. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 39 - 40).

Kiely, AP; Asi, YT; Ling, H; Lees, AJ; Hardy, J; Revesz, T; Holton, JL; (2013) A-synucleinopathy associated with G51D SNCA mutation: A link between Parkinson's disease and multiple system atrophy? Acta Neuropathologica , 125 (5) 753 - 769. 10.1007/s00401-013-1096-7. Green open access
file

Koutsis, G; Pandraud, A; Karadima, G; Panas, M; Reilly, MM; Floroskufi, P; Wood, NW; (2013) Mutational analysis of PMP22, EGR2, LITAF and NEFL in Greek Charcot-Marie-Tooth type 1 patients. CLINICAL GENETICS , 83 (4) 388 - 391. 10.1111/j.1399-0004.2012.01910.x.

Koutsis, G; Pandraud, A; Karadima, G; Panas, M; Reilly, MM; Floroskufi, P; Wood, NW; (2013) Mutational analysis of PMP22, EGR2, LITAF and NEFL in Greek Charcot-Marie-Tooth type 1 patients. Clin Genet , 83 (4) 388 - 391. 10.1111/j.1399-0004.2012.01910.x.

Kruer, MC; Jepperson, T; Dutta, S; Steiner, RD; Cottenie, E; Sanford, L; Merkens, M; (2013) Mutations in gamma adducin are associated with inherited cerebral palsy. Ann Neurol , 74 (6) pp. 805-814. 10.1002/ana.23971. Green open access
file

Laura, M; Murphy, SM; Hornemann, T; Skorupinska, M; Bull, K; Phadke, R; Lauria, G; (2013) HEREDITARY SENSORY NEUROPATHY TYPE 1: A NATURAL HISTORY STUDY. In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. (pp. 62 - 62).

Li, A; Paudel, R; Johnson, R; Courtney, R; Lees, AJ; Holton, JL; Hardy, J; (2013) Pantothenate kinase-associated neurodegeneration is not a synucleinopathy. Neuropathology and Applied Neurobiology , 39 (2) pp. 121-131. 10.1111/j.1365-2990.2012.01269.x. Green open access
file

Ling, H; Kara, E; Bandopadhyay, R; Hardy, J; Holton, J; Xiromerisiou, G; Lees, A; (2013) TDP-43 pathology in a patient carrying G2019S LRRK2mutation and a novel p.Q124E MAPT. Neurobiology of Aging , 34 (12) 10.1016/j.neurobiolaging.2013.04.011.

Ling, H; Kara, E; Bandopadhyay, R; Hardy, J; Holton, J; Xiromerisiou, G; Lees, A; (2013) TDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p.Q124E MAPT. Neurobiol Aging , 34 (12) 2889.e5 - 2889.e9. 10.1016/j.neurobiolaging.2013.04.011. Green open access
file

Liu, YT; Hersheson, J; Plagnol, V; Fawcett, K; Duberley, KE; Preza, E; Hargreaves, IP; (2013) Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation. Journal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2013-306483. Green open access
filefile

McNeill, A; Wu, RM; Tzen, KY; Aguiar, PC; Arbelo, JM; Barone, P; Bhatia, K; (2013) Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis. PLOS ONE , 8 (7) , Article e69190. 10.1371/journal.pone.0069190. Green open access
file

Mencacci, N; Pittman, A; Sheerin, U; Charlesworth, G; Hughes, D; Sweeney, M; Wood, N; (2013) A comprehensive diagnostic test for familial and early onset Parkinson's disease based on next-generation sequencing. MOVEMENT DISORDERS , 28 S408 - S408.

Mencacci, N; Polke, J; Stamelou, M; Sidle, K; Batla, A; Sweeney, M; Houlden, H; (2013) Is GCH1 a risk locus for Parkinson's disease? Evidence from a case report. MOVEMENT DISORDERS , 28 S406 - S406.

Murphy, SM; Ernst, D; Wei, Y; Laurà, M; Liu, YT; Polke, J; Blake, J; (2013) Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2. Neurology , 80 (23) 2106 - 2111. 10.1212/WNL.0b013e318295d789. Green open access
file

Nalini, A; Pandraud, A; Mok, K; Houlden, H; (2013) Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome. Journal of the Neurological Sciences , 334 (1-2) 119 - 122. 10.1016/j.jns.2013.08.003. Green open access
file

Nalini, A; Pandraud, A; Mok, K; Houlden, H; (2013) Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome. J Neurol Sci , 334 (1-2) 119 - 122. 10.1016/j.jns.2013.08.003.

Oates, EC; Rossor, AM; Hafezparast, M; Gonzalez, M; Speziani, F; MacArthur, DG; Lek, M; (2013) Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Am J Hum Genet , 92 (6) 965 - 973. 10.1016/j.ajhg.2013.04.018.

Pitceathly, RD; Rahman, S; Wedatilake, Y; Polke, JM; Cirak, S; Foley, AR; Sailer, A; (2013) NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease. Cell Rep , 3 (6) 1795 - 1805. 10.1016/j.celrep.2013.05.005.

Pitceathly, RDS; Rahman, S; Houlden, H; Hanna, M; Wedatilake, Y; Polke, JM; Woodward, CE; (2013) NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease. Cell Reports , 3 (6) 1795 - 1805. 10.1016/j.celrep.2013.05.005.

Pitceathly, RDS; Rahman, S; Wedatilake, Y; Polke, JM; Cirak, S; Foley, AR; Sailer, A; (2013) NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease (vol 3, pg 1795, 2013). CELL REPORTS , 4 (2) 402 - 402. 10.1016/j.celrep.2013.06.032. Gold open access

Proukakis, C; Dudzik, CG; Brier, T; MacKay, DS; Cooper, JM; Millhauser, GL; Houlden, H; (2013) A novel α-synuclein missense mutation in Parkinson disease. Neurology , 80 (11) 1062 - 1064. 10.1212/WNL.0b013e31828727ba.

Proukakis, C; Houlden, H; Schapira, AH; (2013) Somatic alpha-synuclein mutations in Parkinson's disease: Hypothesis and preliminary data. Movement Disorders 10.1002/mds.25502. Green open access
file

Proukakis, C; Schapira, AH; Houlden, H; (2013) Somatic alpha-synuclein mutations in Parkinson's disease: Hypothesis and preliminary data. Movement Disorders , 28 (6) 705 - 712. 10.1002/mds.25502.

Rossor, AM; Houlden, H; Reilly, MM; Polke, JM; (2013) Clinical implications of genetic advances in charcot-marie-tooth disease. Nature Reviews Neurology , 9 (10) 562 - 571. 10.1038/nrneurol.2013.179.

Rossor, AM; Laura, M; Bull, K; Morrow, JM; Houlden, H; Reilly, MM; (2013) A CLINICAL AND GENETIC STUDY OF THE DISTAL HEREDITARY MOTOR NEUROPATHIES. In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. (pp. 96 - 96).

Rossor, AM; Oates, EC; Hafezparast, M; Cottenie, E; Houlden, H; Scoto, M; Foley, R; (2013) A WINDOW INTO MOTOR NEURON DEVELOPMENT: WHOLE EXOME SEQUENCING OF DOMINANT CONGENITAL SPINAL MUSCULAR ATROPHY (DCSMA). In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. (pp. 96 - 97).

Rossor, AM; Polke, JM; Houlden, H; Reilly, MM; (2013) Clinical implications of genetic advances in Charcot-Marie-Tooth disease. Nat Rev Neurol , 9 (10) 562 - 571. 10.1038/nrneurol.2013.179.

Rossor, AM; Scoto, M; Harms, M; Baloh, R; Houlden, H; Sewry, C; Manzur, A; (2013) THE PHENOTYPIC GENETIC SPECTRUM OF PATIENTS WITH MUTATIONS IN CYTOPLASMIC DYNEIN HEAVY CHAIN 1 (DYNC1H1). In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. (pp. 97 - 97).

Silveira-Moriyama, L; Gardiner, A; Meyer, E; King, MD; Smith, M; Rakshi, K; Parker, A; (2013) PRRT2 related paroxysmal kinesigenic dyskinesia (PKD). MOVEMENT DISORDERS , 28 S331 - S331.

Silveira-Moriyama, L; Gardiner, AR; Meyer, E; King, MD; Smith, M; Rakshi, K; Parker, A; (2013) Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations. Dev Med Child Neurol , 55 (4) 327 - 334. 10.1111/dmcn.12056.

Silveira-Moriyama, L; Lees, AJ; Gardiner, AR; Meyer, E; King, MD; Smith, M; Rakshi, K; (2013) Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations. Developmental Medicine and Child Neurology , 55 (4) 327 - 334. 10.1111/dmcn.12056.

Stamelou, M; Lai, SC; Aggarwal, A; Schneider, SA; Houlden, H; Yeh, TH; Batla, A; (2013) Dystonic opisthotonus: a "red flag" for neurodegeneration with brain iron accumulation syndromes? Mov Disord , 28 (10) 1325 - 1329. 10.1002/mds.25490.

Stamelou, M; Schneider, SA; Batla, A; Bhatia, KP; Lai, SC; Yeh, T-H; Lu, C-S; (2013) Dystonic opisthotonus: A "red flag" for neurodegeneration with brain iron accumulation syndromes? Movement Disorders , 28 (10) 1325 - 1329. 10.1002/mds.25490. Green open access
file

Sumner, CJ; D'Ydewalle, C; Wooley, J; Cornblath, DR; Fawcett, KA; Gardiner, AR; Reilly, MM; (2013) A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. American Journal of Human Genetics , 93 (5) 976 - 983. 10.1016/j.ajhg.2013.10.006.

Sumner, CJ; d'Ydewalle, C; Wooley, J; Fawcett, KA; Hernandez, D; Gardiner, AR; Kalmar, B; (2013) A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. Am J Hum Genet , 93 (5) 976 - 983. 10.1016/j.ajhg.2013.10.006.

Tucci, A; Kara, E; Fawcett, K; Lo, C-N; Shorvon, S; Hardy, J; Zschocke, J; (2013) Kohlschütter-Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity. Human Mutation , 34 (2) 296 - 300. 10.1002/humu.22241.

Tucci, A; Kara, E; Schossig, A; Wolf, NI; Plagnol, V; Fawcett, K; Paisán-Ruiz, C; (2013) Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. Hum Mutat , 34 (2) 296 - 300. 10.1002/humu.22241.

Tucci, A; Liu, YT; Preza, E; Pitceathly, RD; Chalasani, A; Plagnol, V; Land, JM; (2013) Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. Journal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2013-306387. Green open access
file

Xiromerisiou, G; Dardiotis, E; Tsironi, EE; Hadjigeorgiou, G; Ralli, S; Kara, E; Petalas, A; (2013) THAP1 mutations in a Greek primary blepharospasm series. Parkinsonism & Related Disorders , 19 (3) 404 - 405. 10.1016/j.parkreldis.2012.08.015. Green open access
file

2012

Ahmed, Z; Asi, YT; Sailer, A; Lees, AJ; Houlden, H; Revesz, T; Holton, JL; (2012) The neuropathology, pathophysiology and genetics of multiple system atrophy. Neuropathol Appl Neurobiol , 38 (1) 4 - 24. 10.1111/j.1365-2990.2011.01234.x.

Alg, VS; Sofat, R; Houlden, H; Grieve, J; Watkins, LD; Werring, DJ; (2012) Genetic association studies of intracranial aneurysms: systematic review and meta-analysis in over 106 000 individuals. INTERNATIONAL JOURNAL OF STROKE , 7 8 - 8.

Cottenie, E; Laura, M; Hanna, M; Dick, D; Blake, J; Houlden, H; Reilly, MM; (2012) Genetic analysis of FIG4 in patients with CMT. In: NEUROMUSCULAR DISORDERS. (pp. S18 - S18).

Dale, RC; Gardiner, A; Antony, J; Houlden, H; (2012) Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine. Dev Med Child Neurol , 54 (10) 958 - 960. 10.1111/j.1469-8749.2012.04394.x.

Davidson, G; Murphy, S; Polke, J; Laura, M; Salih, M; Muntoni, F; Blake, J; (2012) Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. J Neurol , 259 (8) 1673 - 1685. 10.1007/s00415-011-6397-y.

Everett, CM; Kara, E; Maresh, KE; Houlden, H; (2012) Clinical variability and L-Dopa responsive Parkinsonism in hereditary spastic paraplegia 11. Journal of Neurology , 259 (12) 2726 - 2728. 10.1007/s00415-012-6642-z.

Everett, CM; Kara, E; Maresh, KE; Houlden, H; (2012) Clinical variability and L-Dopa responsive Parkinsonism in hereditary spastic paraplegia 11. J Neurol , 259 (12) 2726 - 2728. 10.1007/s00415-012-6642-z.

Fawcett, KA; Murphy, SM; Polke, JM; Manji, H; Quinlivan, RM; Reilly, MM; Houlden, H; (2012) Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls. Journal of Neurology, Neurosurgery and Psychiatry , 83 (12) 1204 - 1209. 10.1136/jnnp-2012-303055.

Fawcett, KA; Murphy, SM; Polke, JM; Wray, S; Burchell, VS; Manji, H; Quinlivan, RM; (2012) Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls. J Neurol Neurosurg Psychiatry , 83 (12) 1204 - 1209. 10.1136/jnnp-2012-303055.

Foley, AR; Broomfield, AA; Pandraud, A; Johnson, JO; Singleton, AB; Hargreaves, IP; Land, JM; (2012) High-dose riboflavin therapy in Brown-Vialetto-Van Laere syndrome: clinical and biochemical improvement. In: NEUROMUSCULAR DISORDERS. (pp. S4 - S4).

Gardiner, A; Jaffer, F; Pittman, A; Gibbons, V; Wood, N; Hanna, M; Houlden, H; (2012) Next Generation Sequencing of Ion Channels in Neurological disorders. In: JOURNAL OF MEDICAL GENETICS. (pp. S119 - S119).

Gardiner, A; Kullmann, D; Wood, N; Ptacek, L; Houlden, H; Hanna, M; (2012) Episodic muscle and brain channels: Analysis of the PRRT2 gene and screening of a muscle channel panel. In: NEUROMUSCULAR DISORDERS. (pp. S17 - S17).

Gardiner, AR; Bhatia, KP; Stamelou, M; Dale, RC; Kurian, MA; Schneider, SA; Wali, GM; (2012) PRRT2 gene mutations From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. NEUROLOGY , 79 (21) 2115 - 2121.

Gardiner, AR; Bhatia, KP; Stamelou, M; Dale, RC; Kurian, MA; Schneider, SA; Wali, GM; (2012) PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology , 79 (21) 2115 - 2121. 10.1212/WNL.0b013e3182752c5a.

Gibbons, V; Labrum, RW; Haworth, A; Sweeney, MG; Wood, NW; Houlden, H; Hanna, MG; (2012) Episodic ataxia type 2-mutation analysis and screening recommendations. In: JOURNAL OF MEDICAL GENETICS. (pp. S87 - S87).

Giunti, P; Houlden, H; Gardner-Thorpe, C; Worth, PF; Johnson, J; Hilton, DA; Revesz, T; (2012) Spinocerebellar ataxia type 11. In: UNSPECIFIED (521 - 534).

Guerreiro, R; Kara, E; Le Ber, I; Bras, J; Rohrer, J; Taipa, R; Lashley, T; (2012) Genetic analysis of inherited leukodystrophies: genotype phenotype correlations in the CSF1R gene. In: DEMENTIA AND GERIATRIC COGNITIVE DISORDERS. (pp. 9 - 9).

Haack, TB; Cuno, SM; Strom, TM; Meitinger, T; Prokisch, H; Wieland, T; Schwarzmayr, T; (2012) Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. American Journal of Human Genetics , 91 (6) 1144 - 1149. 10.1016/j.ajhg.2012.10.019.

Haack, TB; Hogarth, P; Kruer, MC; Gregory, A; Wieland, T; Schwarzmayr, T; Graf, E; (2012) Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet , 91 (6) 1144 - 1149. 10.1016/j.ajhg.2012.10.019.

Hersheson, J; Haworth, A; Houlden, H; (2012) The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics. Hum Mutat , 33 (9) 1324 - 1332. 10.1002/humu.22132.

Hersheson, J; Hersheson, J; Pittman, A; Houlden, H; (2012) Developing a NGS screening panel for dominant cerebellar ataxia. In: JOURNAL OF MEDICAL GENETICS. (pp. S120 - S120).

Hersheson, J; Pittman, A; Houlden, H; (2012) Piloting targeted next-generation sequencing for screening the known ataxia genes: The next step for all diagnostic laboratories. In: MOVEMENT DISORDERS. (pp. S456 - S457).

Hersheson, JS; Mencacci, NE; Giunti, P; Wood, N; Houlden, H; (2012) Screening a UK cohort for spinocerebellar ataxia type 36 (SCA36). In: MOVEMENT DISORDERS. (pp. S183 - S183).

Houlden, H; (2012) Sniffing out the cerebellum. J Neurol Neurosurg Psychiatry , 83 (10) 952 - 953. 10.1136/jnnp-2012-303136.

Houlden, H; (2012) A Commentary on 'Four novel C20ORF54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.'. J Hum Genet , 57 (9) 555 - ?. 10.1038/jhg.2012.88.

Houlden, H; (2012) Extending the clinical spectrum of pain channelopathies. Brain , 135 (Pt 2) 313 - 316. 10.1093/brain/aws007.

Houlden, H; Singleton, AB; (2012) The genetics and neuropathology of Parkinson's disease. Acta Neuropathol , 124 (3) 325 - 338. 10.1007/s00401-012-1013-5.

Jaffer, F; Graves, T; Gibbons, V; Gardiner, A; Hersheson, J; Hanna, M; Houlden, H; (2012) Episodic ataxia: screening candidate genes and genetic analysis of families. In: NEUROMUSCULAR DISORDERS. (pp. S17 - S17).

Johnson, JO; Gibbs, JR; Megarbane, A; Urtizberea, JA; Hernandez, DG; Foley, AR; Arepalli, S; (2012) Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain , 135 (Pt 9) 2875 - 2882. 10.1093/brain/aws161.

Kara, E; Ling, H; Pittman, AM; Shaw, K; de Silva, R; Simone, R; Holton, JL; (2012) The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features. Neurobioly of Aging , 33 (9) 2231.e7 - 2231.e14. 10.1016/j.neurobiolaging.2012.04.006. Green open access
file

Kara, E; Xiromerisiou, G; Paudel, R; Revesz, T; Holton, J; Lees, A; Wood, N; (2012) Comprehensive genetic investigation of NBIA and complex dystonia-parkinsonism. In: MOVEMENT DISORDERS. (pp. S459 - S459).

Kojovic, M; Sheerin, U; Rubio-Agusti, I; Bras, J; Wood, N; Houlden, H; Hardy, J; (2012) Young Onset Parkinson's Disease Due to Homozygous Duplication of SNCA in a Consanguineous Family from Pakistan. In: NEUROLOGY.

Kojovic, M; Sheerin, UM; Rubio-Agusti, I; Saha, A; Bras, J; Gibbons, V; Palmer, R; (2012) Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family. Mov Disord , 27 (14) pp. 1829-1830. 10.1002/mds.25199. Green open access
file

Kojovic, M; Sheerin, UM; Rubio-Agusti, I; Saha, A; Bras, J; Gibbons, V; Palmer, R; (2012) Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family. Movement disorders : official journal of the Movement Disorder Society , 27 (14) 1827 - 1829. 10.1002/mds.25114.

Koutsis, G; Karadima, G; Pandraud, A; Sweeney, MG; Paudel, R; Houlden, H; Wood, NW; (2012) Genetic screening of Greek patients with Huntington’s disease phenocopies identifies an SCA8 expansion. J Neurol , 259 (9) 1874 - 1878. 10.1007/s00415-012-6430-9.

Koutsis, G; Mok, K; Schottlaender, L; Polke, J; Panas, M; Houlden, H; (2012) High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients. In: EUROPEAN JOURNAL OF NEUROLOGY. (pp. 726 - 726).

Koutsis, G; Pandraud, A; Polke, JM; Wood, NW; Panas, M; Karadima, G; Houlden, H; (2012) Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease. Brain , 135 (Pt 8) e217 - 6. 10.1093/brain/aws034.

Koutsis, G; Pemble, S; Sweeney, MG; Paudel, R; Wood, NW; Panas, M; Kladi, A; (2012) Analysis of spinocerebellar ataxias due to expanded triplet repeats in Greek patients with cerebellar ataxia. In: EUROPEAN JOURNAL OF NEUROLOGY. (pp. 731 - 731).

Koutsis, G; Pemble, S; Sweeney, MG; Paudel, R; Wood, NW; Panas, M; Kladi, A; (2012) Analysis of spinocerebellar ataxias due to expanded triplet repeats in Greek patients with cerebellar ataxia. J Neurol Sci , 318 (1-2) 178 - 180. 10.1016/j.jns.2012.03.019.

Kruer, M; Jepperson, T; Steiner, R; Russman, B; Blasco, P; Fan, G; Pollock, J; (2012) Mutations in ADD3 Lead to Inherited Forms of Spastic Diplegia and Spastic Quadriplegia. In: ANNALS OF NEUROLOGY. (pp. S218 - S218).

Kruer, MC; Boddaert, N; Schneider, SA; Houlden, H; Bhatia, KP; Gregory, A; Anderson, JC; (2012) Neuroimaging features of neurodegeneration with brain iron accumulation. AJNR Am J Neuroradiol , 33 (3) 407 - 414. 10.3174/ajnr.A2677.

Kruer, MC; Hayflick, SJ; Paudel, R; Kara, E; Foltynie, T; Lees, A; Bhatia, K; (2012) Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts. Neuroscience Letters , 523 (1) 35 - 38. 10.1016/j.neulet.2012.06.036.

Kruer, MC; Paudel, R; Wagoner, W; Sanford, L; Kara, E; Gregory, A; Foltynie, T; (2012) Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts. Neurosci Lett , 523 (1) 35 - 38. 10.1016/j.neulet.2012.06.036.

Laura, M; Murphy, SM; Hornemann, T; Bode, H; Polke, J; Blake, J; Houlden, H; (2012) Hereditary sensory neuropathy type 1: correlation of severity and plasma atypical deoxy-sphyngoid bases. In: NEUROMUSCULAR DISORDERS. (pp. S18 - S18).

Lee, H-Y; Huang, Y; Bruneau, N; Roll, P; Roberson, EDO; Hermann, M; Quinn, E; (2012) Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions. CELL REPORTS , 1 (1) 2 - 12. 10.1016/j.celrep.2011.11.001. Gold open access

Lee, H-Y; Huang, Y; Bruneau, N; Roll, P; Roberson, EDO; Hermann, M; Quinn, E; (2012) Mutations in the Novel Protein PRRT2 Cause Infantile Convulsions with Paroxysmal Kinesigenic Dyskinesia. In: ANNALS OF NEUROLOGY. (pp. S59 - S59).

Lee, HY; Huang, Y; Bruneau, N; Roll, P; Roberson, ED; Hermann, M; Quinn, E; (2012) Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep , 1 (1) 2 - 12. 10.1016/j.celrep.2011.11.001.

Lee, HY; Huang, Y; Bruneau, N; Roll, P; Roberson, ED; Hermann, M; Quinn, E; (2012) Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. In: Cell Rep. (pp. 2 - 12).

Lescai, F; Bonfiglio, S; Bacchelli, C; Chanudet, E; Waters, A; Sisodiya, SM; Kasperavičiūtė, D; (2012) Characterisation and validation of insertions and deletions in 173 patient exomes. PLoS One , 7 (12) , Article e51292. 10.1371/journal.pone.0051292. Green open access
file

Liu, Y-T; Laura, M; Wood, N; Reilly, MM; Houlden, H; (2012) Mutations of the kinesin family member 5A (KIF5A) gene in patients with pure or complex Charcot-Marie-Tooth type 2 (CMT2). In: NEUROMUSCULAR DISORDERS. (pp. S18 - S18).

Liu, Y-T; Pittman, A; Hughes, D; Polke, JM; Sweeney, MG; Houlden, H; Reilly, MM; (2012) Application of targeted resequencing panels in genetic diagnosis of Charcot-Marie-Tooth disease. In: JOURNAL OF MEDICAL GENETICS. (pp. S119 - S119).

Lo, C; Shorvon, S; Davis, M; Houlden, H; Gibbons, V; Wood, N; (2012) Genetic linkage analysis of a large family with photoparoxysmal response. Epilepsy Res , 99 (1-2) 38 - 45. 10.1016/j.eplepsyres.2011.10.013.

Majounie, E; Renton, AE; Mok, K; Dopper, EG; Waite, A; Rollinson, S; Chiò, A; (2012) Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurology , 11 (4) 323 - 330. 10.1016/S1474-4422(12)70043-1. Green open access
file

Matilde, L; Eichler, F; Hornemann, T; Murphy, SM; Polke, J; Bull, K; Houlden, H; (2012) HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1: CORRELATION OF SEVERITY AND PLASMA ATYPICAL DEOXY-SPHYNGOID BASES. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY.

Mencacci, NE; Labrum, R; Haworth, A; Sweeney, M; Pittman, A; Stamelou, M; Fletcher, NA; (2012) Is anything lying behind parkin heterozygous mutations? In: MOVEMENT DISORDERS. (pp. S462 - S463).

Mok, KY; Koutsis, G; Schottlaender, LV; Polke, J; Panas, M; Houlden, H; (2012) High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients. Neurobioly of Aging , 33 (8) 1851.e1 - 1851.e5. 10.1016/j.neurobiolaging.2012.02.021. Green open access
file

Murphy, S; Pandraud, A; Liu, Y; Fawcett, K; Polke, JM; Davidson, G; Laura, M; (2012) CHARCOT-MARIE-TOOTH DISEASE: GENETIC DIAGNOSES IN A SPECIALIST CLINIC. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY.

Murphy, SM; Davidson, GL; Brandner, S; Houlden, H; Reilly, MM; (2012) Mutation in FAM134B causing severe hereditary sensory neuropathy. J Neurol Neurosurg Psychiatry , 83 (1) 119 - 120. 10.1136/jnnp.2010.228965.

Murphy, SM; Davidson, GL; Houlden, H; Reilly, MM; Brandner, S; (2012) Mutation in FAM134B causing severe hereditary sensory neuropathy. Journal of Neurology, Neurosurgery and Psychiatry , 83 (1) 119 - 120. 10.1136/jnnp.2010.228965.

Murphy, SM; Laura, M; Ernst, D; Liu, Y-T; Blake, J; Donaghy, M; Winer, J; (2012) Clinical and genetic characterisation of hereditary sensory neuropathy type 1 caused by mutations in SPTLC2. In: NEUROMUSCULAR DISORDERS. (pp. S19 - S19).

Murphy, SM; Laura, M; Fawcett, K; Pandraud, A; Liu, YT; Davidson, GL; Rossor, AM; (2012) Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J Neurol Neurosurg Psychiatry , 83 (7) 706 - 710. 10.1136/jnnp-2012-302451.

Murphy, SM; Laura, M; Pandraud, A; Liu, Y-T; Davidson, GL; Rossor, AM; Castleman, V; (2012) Charcot-Marie-Tooth disease: Frequency of genetic subtypes and guidelines for genetic testing. Journal of Neurology, Neurosurgery and Psychiatry , 83 (7) 706 - 710. 10.1136/jnnp-2012-302451.

Murphy, SM; Ovens, R; Polke, J; Siskind, CE; Laurà, M; Bull, K; Ramdharry, G; (2012) X inactivation in females with X-linked Charcot-Marie-Tooth disease. Neuromuscular Disorders , 22 (7) 617 - 621. 10.1016/j.nmd.2012.02.009. Green open access
file

Paisán-Ruiz, C; Li, A; Schneider, SA; Holton, JL; Johnson, R; Kidd, D; Chataway, J; (2012) Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations. Neurobiol Aging , 33 (4) 814 - 823. 10.1016/j.neurobiolaging.2010.05.009.

Pandraud, A; Clayton, P; Foley, AR; Muntoni, F; Johnson, JO; Singleton, AB; Reilly, MM; (2012) INVESTIGATION OF RIBOFLAVIN TRANSPORTER MUTATIONS IN BROWN-VIALETTO-VAN LAERE SYNDROME, A POTENTIALLY TREATABLE METABOLIC DISEASE. JOURNAL OF INHERITED METABOLIC DISEASE , 35 S18 - S18.

Pandraud, A; Johnson, JO; Singleton, AB; Clayton, P; Land, J; Hargreaves, I; Foley, AR; (2012) Genetic and functional investigation of Brown-Vialetto-Van Laere syndrome and related neuropathies. In: NEUROMUSCULAR DISORDERS. (pp. S19 - S20).

Paudel, R; Hardy, J; Revesz, T; Holton, JL; Houlden, H; (2012) Review: Genetics and neuropathology of primary pure dystonia. Neuropathology and Applied Neurobiology , 38 (6) 520 - 534. 10.1111/j.1365-2990.2012.01298.x.

Paudel, R; Hardy, J; Revesz, T; Holton, JL; Houlden, H; (2012) Review: genetics and neuropathology of primary pure dystonia. Neuropathol Appl Neurobiol , 38 (6) 520 - 534. 10.1111/j.1365-2990.2012.01298.x.

Paudel, R; Revesz, T; Hardy, J; Holton, J; Houlden, H; (2012) Genetics and neuropathology of focal dystonia. In: MOVEMENT DISORDERS. (pp. S354 - S355).

Pitceathly, RD; Murphy, SM; Cottenie, E; Chalasani, A; Sweeney, MG; Woodward, C; Mudanohwo, EE; (2012) Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. In: Neurology. (pp. 1145 - 1154).

Pitceathly, RDS; Murphy, SM; Cottenie, E; Chalasani, A; Sweeney, MG; Woodward, C; Mudanohwo, EE; (2012) Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. NEUROLOGY , 79 (11) 1145 - 1154.

Pittman, A; Mencacci, N; Sheerin, U; Charlesworth, G; Deborah, H; Haworth, A; Sweeney, M; (2012) A comprehensive diagnostic test for familial and early onset Parkinson's disease based on next-generation sequencing. In: JOURNAL OF MEDICAL GENETICS. (pp. S122 - S122).

Polke, J; Mencacci, N; Stamelou, M; Sweeney, MG; Manji, H; Wood, NW; Bhatia, KP; (2012) Transcript analysis of a variably-penetrant GTP cyclohydrolase intronic splicing mutation. In: JOURNAL OF MEDICAL GENETICS. (pp. S92 - S92).

Polke, J; Mok, K; Poulter, M; Lashley, T; Beck, J; Wood, NW; Hardy, J; (2012) Diagnostic testing for the frontotemporal dementia/amyotrophic lateral sclerosis (GGGGCC)n expansion in C9orf72. In: JOURNAL OF MEDICAL GENETICS. (pp. S122 - S122).

Preza, E; Wray, S; Mahoney, C; Ryan, N; Liang, Y; Isaacs, A; Chio, A; (2012) Creation of a Fibroblast Resource for Dementia Research. In: DEMENTIA AND GERIATRIC COGNITIVE DISORDERS. (pp. 65 - 65).

Proukakis, C; Katsianou, M; Hummel, A; Brier, T; Houlden, H; Cooper, JM; Schapira, AH; (2012) A Novel Alpha-Synuclein Missense Mutation in Parkinson's Disease. In: ANNALS OF NEUROLOGY. (pp. S130 - S130).

Proukakis, C; Moore, D; Labrum, R; Wood, NW; Houlden, H; (2012) HEREDITARY SPASTIC PARAPLEGIA CAUSED BY SPASTIN (SPAST, SPG4) MUTATIONS IS FOUND MORE OFTEN IN MALES: REPORT OF NOVEL MUTATIONS FROM ONE CENTRE, AND REVIEW OF PUBLISHED LITERATURE. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY.

Rossor, AM; Davidson, G; Houlden, HH; Kalmar, B; Greensmith, L; Reilly, MM; (2012) A novel p.glu175x premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2. In: NEUROMUSCULAR DISORDERS. (pp. S21 - S21).

Rossor, AM; Davidson, GL; Blake, J; Polke, JM; Murphy, SM; Houlden, H; Innes, A; (2012) A novel p.Glu175X premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2. J Peripher Nerv Syst , 17 (2) 201 - 205. 10.1111/j.1529-8027.2012.00400.x.

Rossor, AM; Houlden, H; Reilly, MM; (2012) A Clinical Study of the Distal Hereditary Motor Neuropathies. In: ANNALS OF NEUROLOGY. (pp. S76 - S76).

Sailer, A; Houlden, H; (2012) Recent advances in the genetics of cerebellar ataxias. Curr Neurol Neurosci Rep , 12 (3) 227 - 236. 10.1007/s11910-012-0267-6.

Sailer, A; Scholz, SW; Gibbs, JR; Tucci, A; Johnson, JO; Wood, NW; Plagnol, V; (2012) Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases. Neurology , 79 (2) 127 - 131. 10.1212/WNL.0b013e31825f048e. Gold open access

Schneider, SA; Mummery, CJ; Mehrabian, M; Houlden, H; Bain, PG; (2012) Hereditary spastic paraplegia, thin corpus callosum and tremor. In: MOVEMENT DISORDERS. (pp. S420 - S420).

Schneider, SA; Mummery, CJ; Mehrabian, M; Houlden, H; Bain, PG; (2012) SPG11 Presenting with Tremor. Tremor Other Hyperkinet Mov (N Y) , 2

Schottlaender, LV; Mencacci, N; Koepp, M; Hanna, M; Hardy, J; Lees, AJ; Houlden, H; (2012) Interesting clinical features associated with mutations in the SLC20A2 gene. In: EUROPEAN JOURNAL OF NEUROLOGY. (pp. 40 - 40).

Schottlaender, LV; Sailer, A; Tucci, A; Mok, K; Ling, H; Plagnol, V; Quinn, N; (2012) Exome sequencing in familial multiple system atrophy. In: MOVEMENT DISORDERS. (pp. S468 - S468).

Setó-Salvia, N; Pagonabarraga, J; Houlden, H; Pascual-Sedano, B; Dols-Icardo, O; Tucci, A; Paisán-Ruiz, C; (2012) Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course. Mov Disord , 27 (3) 393 - 399. 10.1002/mds.24045.

Stamelou, M; Mencacci, N; Cordivari, C; Batla, A; Houlden, H; Wood, N; Hardy, J; (2012) Myoclonic dystonia syndrome due to tyrosine hydroxylase deficiency. In: MOVEMENT DISORDERS. (pp. S201 - S201).

Stamelou, M; Mencacci, NE; Cordivari, C; Batla, A; Wood, NW; Houlden, H; Hardy, J; (2012) Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. Neurology , 79 (5) 435 - 441. 10.1212/WNL.0b013e318261714a. Gold open access

Voermans, NC; Kleefstra, T; Gabreëls-Festen, AA; Faas, BH; Kamsteeg, EJ; Houlden, H; Laurá, M; (2012) Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion. J Peripher Nerv Syst , 17 (2) 223 - 225. 10.1111/j.1529-8027.2012.00402.x.

Woodward, C; Sweeney, MG; Pitceathly, RDS; Mudanohwo, EE; Hughes, D; Pittman, A; Houlden, H; (2012) Next Generation Sequencing as a potential diagnostic tool for mitochondrial DNA diseases. In: JOURNAL OF MEDICAL GENETICS. (pp. S116 - S116).

Wray, S; Murray, H; Preza, E; Drummond, NJ; Devine, MJ; Isaacs, A; Houlden, H; (2012) Human Stem Cell Models of Frontotemporal Dementia Caused by a Non-Coding Hexanucleotide Repeat Expansion in C9orf72. In: DEMENTIA AND GERIATRIC COGNITIVE DISORDERS. (pp. 60 - 61).

Wray, S; Self, M; NINDS Parkinson's Disease iPSC Consortium, ; NINDS Huntington's Disease iPSC Consortium, ; NINDS ALS iPSC Consortium, ; Lewis, PA; Taanman, JW; (2012) Creation of an open-access, mutation-defined fibroblast resource for neurological disease research. PLOS One , 7 (8) , Article e43099. 10.1371/journal.pone.0043099. Green open access
file

Xiromerisiou, G; Houlden, H; Kara, E; Hardy, J; Lees, AJ; Paudel, R; Stamelou, M; (2012) THAP1 mutations and dystonia phenotypes: Genotype phenotype correlations. Movement Disorders , 27 (10) 1290 - 1294. 10.1002/mds.25146.

Xiromerisiou, G; Houlden, H; Sailer, A; Silveira-Moriyama, L; Hardy, J; Lees, AJ; (2012) Identical twins with Leucine rich repeat kinase type 2 mutations discordant for Parkinson's disease. Mov Disord , 27 (10) 1323 - ?. 10.1002/mds.24924.

Xiromerisiou, G; Houlden, H; Scarmeas, N; Stamelou, M; Kara, E; Hardy, J; Lees, A; (2012) THAP1 mutations and dystonia phenotypes: A metanalysis, genotype phenotype correlations and identification of novel mutations. In: MOVEMENT DISORDERS. (pp. S370 - S370).

Xiromerisiou, G; Houlden, H; Scarmeas, N; Stamelou, M; Kara, E; Hardy, J; Lees, AJ; (2012) THAP1 mutations and dystonia phenotypes: genotype phenotype correlations. Mov Disord , 27 (10) 1290 - 1294. 10.1002/mds.25146.

Xiromerisiou, G; Kara, E; Houlden, H; Tsironi, E; Dardiotis, E; Dardioti, M; Hadjigeorgiou, G; (2012) Identification of novel THAP1 sequence variants in patients with blepharospam. In: MOVEMENT DISORDERS. (pp. S473 - S473).

2011

Brooks, JA; Houlden, H; Melchers, A; Islam, AJ; Ding, JH; Li, A; Paudel, R; (2011) Mutational analysis of parkin and PINK1 in multiple system atrophy. NEUROBIOL AGING , 32 (3) , Article 548.e5. 10.1016/j.neurobiolaging.2009.11.020.

Brooks, JA; Islam, AJ; Ding, J; Singleton, AB; Scholz, SW; Houlden, H; Melchers, A; (2011) Mutational analysis of parkin and PINK1 in multiple system atrophy. Neurobiology of Aging , 32 (3) 10.1016/j.neurobiolaging.2009.11.020.

Carvalho, OP; Thornton, GK; Hertecant, J; Houlden, H; Nicholas, AK; Cox, JJ; Rielly, M; (2011) A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy. J MED GENET , 48 (2) 131 - 135. 10.1136/jmg.2010.081455.

Cleeter, M; Houlden, H; Simons, P; Al-Shawi, R; Stevanin, G; Durr, A; Hsuan, J; (2011) Screening for mutations in the phosphatidylinositol 4-kinase 2-alpha gene in autosomal recessive hereditary spastic paraplegia. AMYOTROPH LATERAL SC , 12 (2) 148 - 149. 10.3109/17482968.2010.543689.

Devine, MJ; Ryten, M; Vodicka, P; Thomson, AJ; Burdon, T; Houlden, H; Cavaleri, F; (2011) Parkinson's disease induced pluripotent stem cells with triplication of the alpha-synuclein locus. NAT COMMUN , 2 , Article 440. 10.1038/ncomms1453. Gold open access

Fawcett, K; Murphy, SM; Polke, J; Reilly, MM; Houlden, H; (2011) TRPV4 mutations and functional characterisation in a cohort of patients with hereditary neuropathy. In: NEUROMUSCULAR DISORDERS. (pp. S16 - S16). PERGAMON-ELSEVIER SCIENCE LTD

Fawcett, K; Murphy, SM; Reilly, MM; Houlden, H; (2011) TRPV4 MUTATIONS AND FUNCTIONAL CHARACTERISATION IN A COHORT OF PATIENTS WITH HEREDITARY NEUROPATHY. In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. (pp. S36 - S36). WILEY-BLACKWELL

Gwinn, K; Devine, MJ; Jin, LW; Johnson, J; Bird, T; Muenter, M; Waters, C; (2011) Clinical Features, with Video Documentation, of the Original Familial Lewy Body Parkinsonism Caused By alpha-Synuclein Triplication (Iowa Kindred). MOVEMENT DISORD , 26 (11) 2134 - 2136. 10.1002/mds.23776.

Haworth, A; Bertram, L; Carrera, P; Elson, JL; Braastad, CD; Cox, DW; Cruts, M; (2011) Call for participation in the neurogenetics consortium within the Human Variome Project. NEUROGENETICS , 12 (3) 169 - 173. 10.1007/s10048-011-0287-4.

Hutton, EJ; Carty, L; Laurá, M; Houlden, H; Lunn, MP; Brandner, S; Mirsky, R; (2011) c-Jun expression in human neuropathies: a pilot study. J Peripher Nerv Syst , 16 (4) 295 - 303. 10.1111/j.1529-8027.2011.00360.x.

Innes, A; Kalmar, B; Houlden, H; Reilly, MM; Greensmith, L; (2011) Characterisation of novel mutations within heat shock protein 27 causing motor axonopathies. In: NEUROMUSCULAR DISORDERS. (pp. S3 - S3). PERGAMON-ELSEVIER SCIENCE LTD

Kalmar, B; Innes, A; Rossor, AM; Houlden, H; Schiavo, G; Reilly, MM; Greensmith, L; (2011) ASSESSMENT OF FUNCTIONAL IMPAIRMENTS IN CELLULAR MODELS OF MUTANT HSPB1 INDUCED NEUROPATHIES. In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. (pp. S62 - S63). WILEY-BLACKWELL

Kojovic, M; Sheerin, UM; Wood, N; Houlden, H; Hardy, J; Bhatia, KP; (2011) Young onset parkinsonism due to alpha synuclein gene multiplication in a consanguineous family - A case report. In: MOVEMENT DISORDERS. (pp. S310 - S311).

Kruer, MC; Steiner, RD; Merkens, M; Blasco, PA; Phelps, R; Fan, GA; Houlden, H; (2011) Phenotypic Characterization and Autozygosity Mapping of a Novel Locus for Complicated Hereditary Spastic Paraplegia. In: NEUROLOGY. (pp. A89 - A89). LIPPINCOTT WILLIAMS & WILKINS

Laura, M; Eichler, FS; Hornemann, T; Polke, J; Davis, M; Bull, K; Houlden, H; (2011) HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1: CORRELATION OF SEVERITY AND PLASMA ATYPICAL DEOXY-SPHYNGOID BASES. In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. (pp. S72 - S73). WILEY-BLACKWELL

Liu, YT; Murphy, SM; Houlden, H; Reilly, MM; (2011) Neurofilament light chain polypeptide gene (NEFL) mutations in autosomal dominant or sporadic Charcot-Marie-Tooth disease. In: NEUROMUSCULAR DISORDERS. (pp. S17 - S17). PERGAMON-ELSEVIER SCIENCE LTD

Murphy, SM; Davidson, GL; Laura, M; Salih, M; Muntoni, F; Lunn, M; Blake, J; (2011) Genetic mutation frequency in patients with hereditary sensory and autonomic neuropathies (HSAN). In: NEUROMUSCULAR DISORDERS. (pp. S17 - S18). PERGAMON-ELSEVIER SCIENCE LTD

Murphy, SM; Davidson, GL; Laura, M; Salih, MAM; Muntoni, F; Lunn, MP; Blake, J; (2011) GENETIC MUTATION FREQUENCY IN PATIENTS WITH HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES (HSAN). In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. (pp. S93 - S93). WILEY-BLACKWELL

Murphy, SM; Polke, J; Manji, H; Blake, J; Reiniger, L; Sweeney, M; Houlden, H; (2011) A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease. J PERIPHER NERV SYST , 16 (1) 65 - 70. 10.1111/j.1529-8027.2011.00321.x.

Murphy, SM; Siskind, C; Ovens, R; Polke, J; Laura, M; Houlden, H; Murphy, RPJ; (2011) X-inactivation pattern in females with CMTX1. In: NEUROMUSCULAR DISORDERS. (pp. S18 - S18). PERGAMON-ELSEVIER SCIENCE LTD

Murphy, SM; Siskind, CE; Ovens, R; Polke, J; Laura, M; Houlden, H; Murphy, RPJ; (2011) X-INACTIVATION PATTERN IN FEMALES WITH CMTX1. In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. (pp. S94 - S94). WILEY-BLACKWELL

Pandraud, A; Murphy, SM; Laura, M; Reilly, MM; Houlden, H; (2011) Genetic modifying factors for the common form of CMT1A due to the chromosome 17 duplication and other causes of CMT1 in non-CMT1A patients. In: NEUROMUSCULAR DISORDERS. (pp. S18 - S18). PERGAMON-ELSEVIER SCIENCE LTD

Polke, JM; Laura, M; Pareyson, D; Taroni, F; Milani, M; Bergamin, G; Gibbons, VS; (2011) Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. NEUROLOGY , 77 (2) 168 - 173. 10.1212/WNL.0b013e3182242d4d.

Proukakis, C; Moore, D; Labrum, R; Wood, NW; Houlden, H; (2011) Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males. J NEUROL SCI , 306 (1-2) 62 - 65. 10.1016/j.jns.2011.03.043.

Rajakulendran, S; Paisan-Ruiz, C; Houlden, H; (2011) Thinning of the Corpus Callosum and Cerebellar Atrophy is Correlated with Phenotypic Severity in a Family with Spastic Paraplegia Type 11. J CLIN NEUROL , 7 (2) 102 - 104. 10.3988/jcn.2011.7.2.102. Gold open access

Riviere, JB; Ramalingam, S; Lavastre, V; Shekarabi, M; Holbert, S; Lafontaine, J; Srour, M; (2011) KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2. AM J HUM GENET , 89 (2) 219 - 230. 10.1016/j.ajhg.2011.06.013.

Rossor, A; Houlden, H; Reilly, MM; (2011) A clinical study of the hereditary neuropathies due to mutations in the small heat shock proteins. In: NEUROMUSCULAR DISORDERS. (pp. S18 - S19). PERGAMON-ELSEVIER SCIENCE LTD

Russo, M; Laura, M; Polke, JM; Davis, MB; Blake, J; Brandner, S; Hughes, RAC; (2011) Variable phenotypes are associated with PMP22 missense mutations. NEUROMUSCULAR DISORD , 21 (2) 106 - 114. 10.1016/j.nmd.2010.11.011.

Sailer, A; Scholz, SW; Gibbs, JR; Johnson, JO; Wood, NW; Hernandez, D; Hardy, J; (2011) EXOME SEQUENCING AS A RAPID AND COST EFFICIENT DIAGNOSTIC METHOD IN NEUROGENETIC DISORDERS. In: EUROPEAN JOURNAL OF NEUROLOGY. (pp. 552 - 552). WILEY-BLACKWELL

2010

Aggarwal, A; Schneider, SA; Houlden, H; Silverdale, M; Paudel, R; Paisan-Ruiz, C; Desai, S; (2010) Indian-Subcontinent NBIA: Unusual Phenotypes, Novel PANK2 Mutations, and Undetermined Genetic Forms. MOVEMENT DISORD , 25 (10) 1424 - 1431. 10.1002/mds.23095.

Ahmed, Z; Tabrizi, S; Li, A; Houlden, H; Sailer, A; Lees, AJ; Revesz, T; (2010) A case of Huntington's disease phenocopy characterised by pallido-nigro-luysian degeneration with brain-iron accumulation and p62-positive glial inclusions. In: EUROPEAN JOURNAL OF NEUROLOGY. (pp. 379 - 379). WILEY-BLACKWELL

Ahmed, Z; Tabrizi, SJ; Li, A; Houlden, H; Sailer, A; Lees, AJ; Revesz, T; (2010) A Huntington's disease phenocopy characterized by pallido-nigro-luysian degeneration with brain iron accumulation and p62-positive glial inclusions. NEUROPATH APPL NEURO , 36 (6) 551 - 557. 10.1111/j.1365-2990.2010.01093.x.

Dale, RC; Melchers, A; Fung, VSC; Grattan-Smith, P; Houlden, H; Earl, J; (2010) Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency. DEV MED CHILD NEUROL , 52 (6) 583 - 586. 10.1111/j.1469-8749.2010.03619.x.

Davidson, G; Murphy, SM; Polke, JM; Davis, MB; Reilly, M; Houlden, H; MRC Ctr Neuromuscular Dis, ; (2010) Genes for hereditary sensory and autonomic neuropathies: frequency in a UK series and genotype-phenotype correlations. In: NEUROMUSCULAR DISORDERS. (pp. S22 - S22). PERGAMON-ELSEVIER SCIENCE LTD

Dick, KJ; Eckhardt, M; Paisan-Ruiz, C; Alshehhi, AA; Proukakis, C; Sibtain, NA; Maier, H; (2010) Mutation of FA2H Underlies a Complicated Form of Hereditary Spastic Paraplegia (SPG35). HUM MUTAT , 31 (4) E1251 - E1260. 10.1002/humu.21205.

Green, P; Wiseman, M; Crow, YJ; Houlden, H; Riphagen, S; Lin, JP; Raymond, FL; (2010) Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54. AM J HUM GENET , 86 (3) 485 - 489. 10.1016/j.ajhg.2010.02.006.

Houlden, H; Schneider, SA; Paudel, R; Melchers, A; Schwingenschuh, P; Edwards, M; Hardy, J; (2010) THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. NEUROLOGY , 74 (10) 846 - 850.

Houlden, HP; Favaregh, AL; Hemsch, MJ; (2010) Quantification of the uncertainties for the Ares I A106 ascent aerodynamic database. 27th AIAA Aerodynamic Measurement Technology and Ground Testing Conference 2010

Hutton, EJ; Carty, L; Laura, M; Houlden, H; Lunn, MP; Brandner, S; Mirsky, R; (2010) C-Jun expression in human neuropathies: a pilot study. In: NEUROMUSCULAR DISORDERS. (pp. S22 - S22). PERGAMON-ELSEVIER SCIENCE LTD

Innes, A; Kalmar, B; Houlden, H; Reilly, MM; Greensmith, L; (2010) Characterisation of novel mutations within HSP27 causing Charcot-Marie-Tooth disease 2F and distal hereditary motor neuropathy II. In: NEUROMUSCULAR DISORDERS. (pp. S21 - S22). PERGAMON-ELSEVIER SCIENCE LTD

Johnson, JO; Gibbs, JR; Van Maldergem, L; Houlden, H; Singleton, AB; (2010) Exome Sequencing in Brown-Vialetto-Van Laere Syndrome. AM J HUM GENET , 87 (4) 567 - 569. 10.1016/j.ajhg.2010.05.021.

Kruer, MC; Paisan-Ruiz, C; Boddaert, N; Yoon, MY; Hama, H; Gregory, A; Malandrini, A; (2010) Defective FA2H Leads to a Novel Form of Neurodegeneration with Brain Iron Accumulation (NBIA). ANN NEUROL , 68 (5) 611 - 618. 10.1002/ana.22122.

Kruer, MC; Paisan-Ruiz, C; Yoon, MY; Gregory, A; Woltjer, RL; Malandrini, A; Polster, BJ; (2010) Defective Fatty Acid Hydroxylase Leads to a Novel Subtype of Neurodegeneration with Brain Iron Accumulation (NBIA). In: ANNALS OF NEUROLOGY. (pp. S30 - S31).

Kruer, MC; Paisan-Ruiz, C; Yoon, MY; Hama, H; Gregory, A; Malandrini, A; Woltjer, RL; (2010) Mutation in FA2H leads to Fatty Acid Hydroxylase-associated Neurodegeneration (FAHN). In: ANNALS OF NEUROLOGY. (pp. S91 - S91).

Landoure, G; Zdebik, AA; Martinez, TL; Burnett, BG; Stanescu, HC; Inada, H; Shi, YJ; (2010) Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. NAT GENET , 42 (2) 170 - U109. 10.1038/ng.512. Gold open access

Luigetti, M; Pizzuti, A; Bartoletti, S; Houlden, H; Pirro, C; Bottillo, I; Madia, F; (2010) Triple A syndrome: A novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency. J NEUROL SCI , 290 (1-2) 150 - 152. 10.1016/j.jns.2009.12.005.

Murphy, S; Brandner, S; Polke, J; Manji, H; Houlden, H; Reilly, MM; (2010) A NOVEL MUTATION IN THE NERVE-SPECIFIC 5 '-UTR OF THE CX32 GENE CAUSING CMTX1. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY , 81 (11) E50 - E50. 10.1136/jnnp.2010.226340.133.

Murphy, SM; Polke, JM; Manji, H; Brandner, S; Houlden, H; Reilly, MM; (2010) A novel mutation in the nerve-specific 5 ' UTR of the Cx32 gene causing CMTX1. In: NEUROMUSCULAR DISORDERS. (pp. S20 - S21). PERGAMON-ELSEVIER SCIENCE LTD

Novak, M; Davis, M; Li, A; Goold, R; Tabrizi, SJ; Sweeney, MG; Houlden, H; (2010) ITPR1 GENE DELETION CAUSES SPINOCEREBELLAR ATAXIA 15/16: A GENETIC, CLINICAL AND RADIOLOGICAL DESCRIPTION OF A NOVEL KINDRED. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY , 81 (11) E32 - E32. 10.1136/jnnp.2010.226340.60.

Novak, MJU; Sweeney, MG; Li, A; Treacy, C; Chandrashekar, HS; Giunti, P; Goold, RG;