UCL Institute of Neurology

2012

Ahmed, Z and Asi, YT and Sailer, A and Lees, AJ and Houlden, H and Revesz, T and 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.

Arthur-Farraj, PJ and Murphy, SM and Laura, M and Lunn, MP and Manji, H and Blake, J and Ramdharry, G and Fox, Z and Reilly, MM (2012) Hand weakness in Charcot-Marie-Tooth disease 1X. Neuromuscul Disord 10.1016/j.nmd.2012.02.008.

Brady, S and Squier, W and Hilton-Jones, D and Sewry, C and Hanna, M and Holton, JL (2012) A histological evaluation of protein accumulation in inflammatory myopathies. In: NEUROMUSCULAR DISORDERS. (pp. S27 - S27).

Brady, S and Squier, W and Hilton-Jones, D and Sewry, C and Holton, JL (2012) INCLUSION BODY MYOSITIS: A DIAGNOSTIC CHALLENGE. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY.

Bras, J and Verloes, A and Schneider, SA and Mole, SE and Guerreiro, RJ (2012) Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Hum Mol Genet 10.1093/hmg/dds089.

Burge, JA and Hanna, MG (2012) Novel insights into the pathomechanisms of skeletal muscle channelopathies. Curr Neurol Neurosci Rep , 12 (1) 62 - 69. 10.1007/s11910-011-0238-3.

Charlesworth, G and Gandhi, S and Bras, JM and Barker, RA and Burn, DJ and Chinnery, PF and Gentleman, SM and Guerreiro, R and Hardy, J and Holton, JL and Lees, A and Morrison, K and Sheerin, U-M and Williams, N and Morris, H and Revesz, T and Wood, NW (2012) Tau acts as an independent genetic risk factor in pathologically proven PD. Neurobiology of Aging , 33 (4) 838.e7 - 838.e11.

Charlesworth, G and Gandhi, S and Bras, JM and Barker, RA and Burn, DJ and Chinnery, PF and Gentleman, SM and Guerreiro, R and Hardy, J and Holton, JL and Lees, A and Morrison, K and Sheerin, UM and Williams, N and Morris, H and Revesz, T and Wood, NW (2012) Tau acts as an independent genetic risk factor in pathologically proven PD. Neurobiol Aging , 33 (4) 838.e7 - 838.11. 10.1016/j.neurobiolaging.2011.11.001.

Charlesworth, G and Wood, NW (2012) Mutations in Nuclear Genes That Affect Mitochondrial Function in Parkinson’s Disease. In: Reeve, AK and Krishnan, KJ and Duchen, M and Turnbull, DM, (eds.) Mitochondrial Dysfunction in Neurodegenerative Disorders. (? - ?). Springer Verlag

Chen, CWR and Kachramanoglou, C and Revesz, T and Choi, D (2012) Rosai-Dorfman disease presenting as a thoracic intradural extramedullary spinal tumor but without extraspinal manifestations. ACTA NEUROCHIRURGICA , 154 (2) 367 - 368. 10.1007/s00701-011-1176-1.

Cooper-Knock, J and Hewitt, C and Highley, JR and Brockington, A and Milano, A and Man, S and Martindale, J and Hartley, J and Walsh, T and Gelsthorpe, C and Baxter, L and Forster, G and Fox, M and Bury, J and Mok, K and McDermott, CJ and Traynor, BJ and Kirby, J and Wharton, SB and Ince, PG and Hardy, J and Shaw, PJ (2012) Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. BRAIN , 135 751 - 764. 10.1093/brain/awr365.

Coppola, G and Chinnathambi, S and Lee, JJ and Dombroski, BA and Baker, MC and Soto-Ortolaza, AI and Lee, SE and Klein, E and Huang, AY and Sears, R and Lane, JR and Karydas, AM and Kenet, RO and Biernat, J and Wang, LS and Cotman, CW and Decarli, CS and Levey, AI and Ringman, JM and Mendez, MF and Chui, HC and Le Ber, I and Brice, A and Lupton, MK and Preza, E and Lovestone, S and Powell, J and Graff-Radford, N and Petersen, RC and Boeve, BF and Lippa, CF and Bigio, EH and Mackenzie, I and Finger, E and Kertesz, A and Caselli, RJ and Gearing, M and Juncos, JL and Ghetti, B and Spina, S and Bordelon, YM and Tourtellotte, WW and Frosch, MP and Vonsattel, JP and Zarow, C and Beach, TG and Albin, RL and Lieberman, AP and Lee, VM and Trojanowski, JQ and Van Deerlin, VM and Bird, TD and Galasko, DR and Masliah, E and White, CL and Troncoso, JC and Hannequin, D and Boxer, AL and Geschwind, MD and Kumar, S and Mandelkow, EM and Wszolek, ZK and Uitti, RJ and Dickson, DW and Haines, JL and Mayeux, R and Pericak-Vance, MA and Farrer, LA and Alzheimer's Disease Genetics Consortium, and Ross, OA and Rademakers, R and Schellenberg, GD and Miller, BL and Mandelkow, E and Geschwind, DH (2012) Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. Hum Mol Genet 10.1093/hmg/dds161.

Cortese, A and Machado, P and Miller, A and Brady, S and Hilton-Jones, D and Morrow, J and Hiscock, A and Dewar, E and Parton, M and Hanna, M (2012) CLINICAL FEATURES AND CLINICAL COURSE OF SPORADIC INCLUSION BODY MYOSITIS (IBM): A PROSPECTIVE COHORT STUDY: IBM-NET. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY.

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

Crehan, H and Holton, P and Wray, S and Pocock, J and Guerreiro, R and Hardy, J (2012) Complement receptor 1 (CR1) and Alzheimer's disease. Immunobiology , 217 (2) 244 - 250. 10.1016/j.imbio.2011.07.017.

Devine, MJ and Kaganovich, A and Ryten, M and Mamais, A and Trabzuni, D and Manzoni, C and McGoldrick, P and Chan, D and Dillman, A and Zerle, J and Horan, S and Taanman, JW and Hardy, J and Marti-Masso, JF and Healy, D and Schapira, AH and Wolozin, B and Bandopadhyay, R and Cookson, MR and van der Brug, MP and Lewis, PA (2012) Correction: Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue. PLoS One , 7 (1) 10.1371/annotation/c12e4f9e-5aae-424b-a69f-fddf16976dc5.

Djamshidian, A and O'Sullivan, SS and Lees, A and Averbeck, BB (2012) Effects of dopamine on sensitivity to social bias in Parkinson's disease. PLoS One , 7 (3) e32889 - ?. 10.1371/journal.pone.0032889.

Dobricic, V and Stefanova, E and Jankovic, M and Gurunlian, N and Novakovic, I and Hardy, J and Kostic, V and Guerreiro, R (2012) Genetic testing in familial and young-onset Alzheimer's disease: mutation spectrum in a Serbian cohort. Neurobiol Aging 10.1016/j.neurobiolaging.2011.12.007.

Doherty, KM and Noyce, AJ and Silveira-Moriyama, L and Nisbet, A and Quinn, N and Lees, AJ (2012) Familial camptocormia: from dystonia to myopathy. J Neurol Neurosurg Psychiatry , 83 (3) 350 - 351. 10.1136/jnnp.2011.246561.

Domijan, AM and Kovac, S and Abramov, AY (2012) Impact of fumonisin B1 on glutamate toxicity and low magnesium-induced seizure activity in neuronal primary culture. Neuroscience , 202 10 - 16. 10.1016/j.neuroscience.2011.12.005.

Ferrari, R and Mok, K and Moreno, JH and Cosentino, S and Goldman, J and Pietrini, P and Mayeux, R and Tierney, MC and Kapogiannis, D and Jicha, GA and Murrell, JR and Ghetti, B and Wassermann, EM and Grafman, J and Hardy, J and Huey, ED and Momeni, P (2012) Screening for C9ORF72 repeat expansion in FTLD. Neurobiol Aging 10.1016/j.neurobiolaging.2012.02.017.

Fitzgerald, JC and Camprubi, MD and Dunn, L and Wu, HC and Ip, NY and Kruger, R and Martins, LM and Wood, NW and Plun-Favreau, H (2012) Phosphorylation of HtrA2 by cyclin-dependent kinase-5 is important for mitochondrial function. Cell Death Differ , 19 (2) 257 - 266. 10.1038/cdd.2011.90.

Foulds, PG and Yokota, O and Thurston, A and Davidson, Y and Ahmed, Z and Holton, J and Thompson, JC and Akiyama, H and Arai, T and Hasegawa, M and Gerhard, A and Allsop, D and Mann, DMA (2012) Post mortem cerebrospinal fluid alpha-synuclein levels are raised in multiple system atrophy and distinguish this from the other alpha-synucleinopathies, Parkinson's disease and Dementia with Lewy bodies. NEUROBIOLOGY OF DISEASE , 45 (1) 188 - 195. 10.1016/j.nbd.2011.08.003.

Gerrish, A and Russo, G and Richards, A and Moskvina, V and Ivanov, D and Harold, D and Sims, R and Abraham, R and Hollingworth, P and Chapman, J and Hamshere, M and Pahwa, JS and Dowzell, K and Williams, A and Jones, N and Thomas, C and Stretton, A and Morgan, AR and Lovestone, S and Powell, J and Proitsi, P and Lupton, MK and Brayne, C and Rubinsztein, DC and Gill, M and Lawlor, B and Lynch, A and Morgan, K and Brown, KS and Passmore, PA and Craig, D and McGuinness, B and Todd, S and Johnston, JA and Holmes, C and Mann, D and Smith, AD and Love, S and Kehoe, PG and Hardy, J and Mead, S and Fox, N and Rossor, M and Collinge, J and Maier, W and Jessen, F and Kölsch, H and Heun, R and Schürmann, B and van den Bussche, H and Heuser, I and Kornhuber, J and Wiltfang, J and Dichgans, M and Frölich, L and Hampel, H and Hüll, M and Rujescu, D and Goate, AM and Kauwe, JS and Cruchaga, C and Nowotny, P and Morris, JC and Mayo, K and Livingston, G and Bass, NJ and Gurling, H and McQuillin, A and Gwilliam, R and Deloukas, P and Davies, G and Harris, SE and Starr, JM and Deary, IJ and Al-Chalabi, A and Shaw, CE and Tsolaki, M and Singleton, AB and Guerreiro, R and Mühleisen, TW and Nöthen, MM and Moebus, S and Jöckel, KH and Klopp, N and Wichmann, HE and Carrasquillo, MM and Pankratz, VS and Younkin, SG and Jones, L and Holmans, PA and O'Donovan, MC and Owen, MJ and Williams, J (2012) The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease. J Alzheimers Dis , 28 (2) 377 - 387. 10.3233/JAD-2011-110824.

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

Goate, A and Hardy, J (2012) Twenty years of Alzheimer's disease-causing mutations. J Neurochem , 120 Suppl 1 3 - 8. 10.1111/j.1471-4159.2011.07575.x.

Gray, A and Nirmalananthan, N and Malik, B and Dick, J and Hanna, M and Greensmith, L (2012) Targeting the endogenous stress response in a mouse model of SBMA. In: NEUROMUSCULAR DISORDERS. (pp. S12 - S12).

Guerreiro, RJ and Gustafson, DR and Hardy, J (2012) The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE. Neurobiol Aging , 33 (3) 437 - 456. 10.1016/j.neurobiolaging.2010.03.025.

Guerreiro, RJ and Lohmann, E and Kinsella, E and Brás, JM and Luu, N and Gurunlian, N and Dursun, B and Bilgic, B and Santana, I and Hanagasi, H and Gurvit, H and Gibbs, JR and Oliveira, C and Emre, M and Singleton, A (2012) Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease. Neurobiol Aging , 33 (5) 1008.e17 - 1008.e23. 10.1016/j.neurobiolaging.2011.10.009.

Hardy, J (2012) Genetic analysis of disease in the era of whole genome analysis and public databases. Neurobiol Aging , 33 (4) 635 - ?. 10.1016/j.neurobiolaging.2011.12.039.

Hernandez, DG and Nalls, MA and Moore, M and Chong, S and Dillman, A and Trabzuni, D and Gibbs, JR and Ryten, M and Arepalli, S and Weale, ME and Zonderman, AB and Troncoso, J and O'Brien, R and Walker, R and Smith, C and Bandinelli, S and Traynor, BJ and Hardy, J and Singleton, AB and Cookson, MR (2012) Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain. Neurobiol Dis 10.1016/j.nbd.2012.03.020.

Horga, A and Rayan, DLR and Haworth, A and Matthews, E and Fialho, D and Sud, R and Portaro, S and Burge, JA and Davis, MB and Hanna, MG (2012) Prevalence study of skeletal muscle channelopathies in England. In: NEUROMUSCULAR DISORDERS. (pp. S17 - S17).

Horga, A and Rayan, DLR and Matthews, E and Fialho, D and Sud, R and Haworth, A and Portaro, S and Burge, J and Davis, MB and Hanna, MG (2012) PREVALENCE STUDY OF SKELETAL MUSCLE CHANNELOPATHIES IN ENGLAND. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY.

Huey, ED and Ferrari, R and Moreno, JH and Jensen, C and Morris, CM and Potocnik, F and Kalaria, RN and Tierney, M and Wassermann, EM and Hardy, J and Grafman, J and Momeni, P (2012) FUS and TDP43 genetic variability in FTD and CBS. NEUROBIOLOGY OF AGING , 33 (5) , Article ARTN 1016.e9. 10.1016/j.neurobiolaging.2011.08.004.

Interleukin-6 Receptor Mendelian Randomisation Analysis (IL6R MR) Consortium, and Hingorani, AD and Casas, JP (2012) The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis. Lancet , 379 (9822) 1214 - 1224. 10.1016/S0140-6736(12)60110-X.

International Stroke Genetics Consortium (ISGC), and Wellcome Trust Case Control Consortium 2 (WTCCC2), and Bellenguez, C and Bevan, S and Gschwendtner, A and Spencer, CC and Burgess, AI and Pirinen, M and Jackson, CA and Traylor, M and Strange, A and Su, Z and Band, G and Syme, PD and Malik, R and Pera, J and Norrving, B and Lemmens, R and Freeman, C and Schanz, R and James, T and Poole, D and Murphy, L and Segal, H and Cortellini, L and Cheng, YC and Woo, D and Nalls, MA and Müller-Myhsok, B and Meisinger, C and Seedorf, U and Ross-Adams, H and Boonen, S and Wloch-Kopec, D and Valant, V and Slark, J and Furie, K and Delavaran, H and Langford, C and Deloukas, P and Edkins, S and Hunt, S and Gray, E and Dronov, S and Peltonen, L and Gretarsdottir, S and Thorleifsson, G and Thorsteinsdottir, U and Stefansson, K and Boncoraglio, GB and Parati, EA and Attia, J and Holliday, E and Levi, C and Franzosi, MG and Goel, A and Helgadottir, A and Blackwell, JM and Bramon, E and Brown, MA and Casas, JP and Corvin, A and Duncanson, A and Jankowski, J and Mathew, CG and Palmer, CN and Plomin, R and Rautanen, A and Sawcer, SJ and Trembath, RC and Viswanathan, AC and Wood, NW and Worrall, BB and Kittner, SJ and Mitchell, BD and Kissela, B and Meschia, JF and Thijs, V and Lindgren, A and Macleod, MJ and Slowik, A and Walters, M and Rosand, J and Sharma, P and Farrall, M and Sudlow, CL and Rothwell, PM and Dichgans, M and Donnelly, P and Markus, HS (2012) Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke. Nat Genet , 44 (3) 328 - 333. 10.1038/ng.1081.

Jacobi, H and Hauser, TK and Giunti, P and Globas, C and Bauer, P and Schmitz-Hübsch, T and Baliko, L and Filla, A and Mariotti, C and Rakowicz, M and Charles, P and Ribai, P and Szymanski, S and Infante, J and van de Warrenburg, BP and Dürr, A and Timmann, D and Boesch, S and Fancellu, R and Rola, R and Depondt, C and Schöls, L and Zdzienicka, E and Kang, JS and Ratzka, S and Kremer, B and Stephenson, DA and Melegh, B and Pandolfo, M and Tezenas du Montcel, S and Borkert, J and Schulz, JB and Klockgether, T (2012) Spinocerebellar ataxia types 1, 2, 3 and 6: the clinical spectrum of ataxia and morphometric brainstem and cerebellar findings. Cerebellum , 11 (1) 155 - 166. 10.1007/s12311-011-0292-z.

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

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

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

Kovac, S and Domijan, AM and Walker, MC and Abramov, AY (2012) Prolonged seizure activity impairs mitochondrial bioenergetics and induces cell death. J Cell Sci , 125 (Pt 7) 1796 - 1806. 10.1242/jcs.099176.

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

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

Lewis, PA (2012) Assaying the kinase activity of LRRK2 in vitro. J Vis Exp (59) 10.3791/3495.

Lewis, PA and Manzoni, C (2012) LRRK2 and human disease: a complicated question or a question of complexes? Sci Signal , 5 (207) pe2 - ?. 10.1126/scisignal.2002680.

Li, A and Paudel, R and Johnson, R and Courtney, R and Lees, AJ and Holton, JL and Hardy, J and Revesz, T and Houlden, H (2012) Pantothenate kinase-associated neurodegeneration is not a synucleinopathy. Neuropathol Appl Neurobiol 10.1111/j.1365-2990.2012.01269.x.

Liu, Y-T and Laura, M and Wood, N and Reilly, MM and 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).

Lohmann, E and Guerreiro, RJ and Erginel-Unaltuna, N and Gurunlian, N and Bilgic, B and Gurvit, H and Hanagasi, HA and Luu, N and Emre, M and Singleton, A (2012) Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients. Neurobiol Aging 10.1016/j.neurobiolaging.2012.02.020.

Machado, P and Hudson, J and Miller, A and Morrow, J and Parton, M and Bushby, K and Hanna, M (2012) VALOSIN CONTAINING PROTEIN (VCP) AND MYOFIBRILLAR MYOPATHIES (MFM) GENES' MUTATIONS ARE NOT ASSOCIATED WITH SPORADIC INCLUSION BODY MYOSITIS (sIBM). In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY.

Mahoney, CJ and Beck, J and Rohrer, JD and Lashley, T and Mok, K and Shakespeare, T and Yeatman, T and Warrington, EK and Schott, JM and Fox, NC and Rossor, MN and Hardy, J and Collinge, J and Revesz, T and Mead, S and Warren, JD (2012) Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features. Brain , 135 (Pt 3) 736 - 750. 10.1093/brain/awr361.

Mahoney, CJ and Beck, J and Rohrer, JD and Lashley, T and Mok, K and Shakespeare, T and Yeatman, T and Warrington, EK and Schott, JM and Fox, NC and Rossor, MN and Hardy, J and Collinge, J and Revesz, T and Mead, S and Warren, JD (2012) Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: Clinical, neuroanatomical and neuropathological features. Brain , 135 (3) 736 - 750.

Majounie, E and Abramzon, Y and Renton, AE and Perry, R and Bassett, SS and Pletnikova, O and Troncoso, JC and Hardy, J and Singleton, AB and Traynor, BJ (2012) Repeat Expansion in C9ORF72 in Alzheimer's Disease. NEW ENGLAND JOURNAL OF MEDICINE , 366 (3) 283 - 284. 10.1056/NEJMc1113592.

Majounie, E and Renton, AE and Mok, K and Dopper, EG and Waite, A and Rollinson, S and Chiò, A and Restagno, G and Nicolaou, N and Simon-Sanchez, J and van Swieten, JC and Abramzon, Y and Johnson, JO and Sendtner, M and Pamphlett, R and Orrell, RW and Mead, S and Sidle, KC and Houlden, H and Rohrer, JD and Morrison, KE and Pall, H and Talbot, K and Ansorge, O and Chromosome 9-ALS/FTD Consortium, and French research network on FTLD/FTLD/ALS, and ITALSGEN Consortium, and Hernandez, DG and Arepalli, S and Sabatelli, M and Mora, G and Corbo, M and Giannini, F and Calvo, A and Englund, E and Borghero, G and Floris, GL and Remes, AM and Laaksovirta, H and McCluskey, L and Trojanowski, JQ and Van Deerlin, VM and Schellenberg, GD and Nalls, MA and Drory, VE and Lu, CS and Yeh, TH and Ishiura, H and Takahashi, Y and Tsuji, S and Le Ber, I and Brice, A and Drepper, C and Williams, N and Kirby, J and Shaw, P and Hardy, J and Tienari, PJ and Heutink, P and Morris, HR and Pickering-Brown, S and Traynor, BJ (2012) Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol , 11 (4) 323 - 330. 10.1016/S1474-4422(12)70043-1.

Martins, S and Soong, BW and Wong, VC and Giunti, P and Stevanin, G and Ranum, LP and Sasaki, H and Riess, O and Tsuji, S and Coutinho, P and Amorim, A and Sequeiros, J and Nicholson, GA (2012) Mutational Origin of Machado-Joseph Disease in the Australian Aboriginal Communities of Groote Eylandt and Yirrkala. Arch Neurol 10.1001/archneurol.2011.2504.

Massey, LA and Micallef, C and Paviour, DC and O'Sullivan, SS and Ling, H and Williams, DR and Kallis, C and Holton, JL and Revesz, T and Burn, DJ and Yousry, T and Lees, AJ and Fox, NC and Jäger, HR (2012) Conventional magnetic resonance imaging in confirmed progressive supranuclear palsy and multiple system atrophy. Mov Disord 10.1002/mds.24968.

Massey, LA and Miranda, MA and Zrinzo, L and Al-Helli, O and Parkes, HG and Thornton, JS and So, PW and White, MJ and Mancini, L and Strand, C and Holton, JL and Hariz, MI and Lees, AJ and Revesz, T and Yousry, TA (2012) High resolution MR anatomy of the subthalamic nucleus: imaging at 9.4 T with histological validation. Neuroimage , 59 (3) 2035 - 2044. 10.1016/j.neuroimage.2011.10.016.

Matsuki, T and Zaka, M and Guerreiro, R and van der Brug, MP and Cooper, JA and Cookson, MR and Hardy, JA and Howell, BW (2012) Identification of Stk25 as a genetic modifier of Tau phosphorylation in Dab1-mutant mice. PLoS One , 7 (2) e31152 - ?. 10.1371/journal.pone.0031152.

McNaughton, D and Knight, W and Guerreiro, R and Ryan, N and Lowe, J and Poulter, M and Nicholl, DJ and Hardy, J and Revesz, T and Lowe, J and Rossor, M and Collinge, J and Mead, S (2012) Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series. Neurobiol Aging , 33 (2) 426.e13 - 426.e21. 10.1016/j.neurobiolaging.2010.10.010.

McNaughton, D and Knight, W and Guerreiro, R and Ryan, N and Lowe, J and Poulter, M and Nicholl, DJ and Hardy, J and Revesz, T and Lowe, J and Rossor, M and Collinge, J and Mead, S (2012) Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series. Neurobiology of Aging , 33 (2) 426.e13 - 426.e21.

McNeill, A and Duran, R and Proukakis, C and Bras, J and Hughes, D and Mehta, A and Hardy, J and Wood, NW and Schapira, AH (2012) Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov Disord , 27 (4) 526 - 532. 10.1002/mds.24945.

Menezes, MP and Laura, M and Reilly, MM (2012) Variation in the disability in males of similar age with CMT1X. In: NEUROMUSCULAR DISORDERS. (pp. S18 - S19).

Mok, K and Traynor, BJ and Schymick, J and Tienari, PJ and Laaksovirta, H and Peuralinna, T and Myllykangas, L and Chiò, A and Shatunov, A and Boeve, BF and Boxer, AL and DeJesus-Hernandez, M and Mackenzie, IR and Waite, A and Williams, N and Morris, HR and Simón-Sánchez, J and van Swieten, JC and Heutink, P and Restagno, G and Mora, G and Morrison, KE and Shaw, PJ and Rollinson, PS and Al-Chalabi, A and Rademakers, R and Pickering-Brown, S and Orrell, RW and Nalls, MA and Hardy, J (2012) Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol Aging , 33 (1) 209.e3 - 209.e8. 10.1016/j.neurobiolaging.2011.08.005.

Morrow, J and Sinclair, CDJ and Fischmann, A and Thornton, JS and Yousry, TA and Reilly, MM and Hanna, MG (2012) MRI QUANTIFICATION OF LOWER LIMB MUSCLE FATTY ATROPHY: A POTENTIAL OUTCOME MEASURE IN CHRONIC NEUROMUSCULAR DISEASES. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY.

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