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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.

Una-Marie Sheerin

(Former Clinical Research Fellow)

I completed my medical training at St. George’s Hospital Medical School London in 2003. I first became interested in genetics whilst I was doing my intercalated BSc in Medical Genetics. I am currently on the speciality training program for Neurology and have a years training in Clinical Genetics.

I joined the Institute of Neurology in May 2010 as a Clinical Research Fellow. I am interested in neurogenetic disorders and neurodegeneration. My research will focus on identifying new genes for hereditary forms of Parkinson’s disease.

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Number of items: 17.


Sheerin, U; (2014) The Use of Next Generation Sequencing Technologies to Dissect the Aetiologies of Parkinson’s disease and Dystonia. Doctoral thesis, UCL (University College London). Green open access


Nalls, MA; Duran, R; Lopez, G; Kurzawa-Akanbi, M; McKeith, IG; Chinnery, PF; Morris, CM; (2013) A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy Bodies. JAMA NEUROLOGY , 70 (6) pp. 727-735. 10.1001/jamaneurol.2013.1925.

Rubio-Agusti, I; Parees, I; Kojovic, M; Stamelou, M; Saifee, TA; Charlesworth, G; Sheerin, UM; (2013) Tremulous cervical dystonia is likely to be familial: Clinical characteristics of a large cohort. PARKINSONISM & RELATED DISORDERS , 19 (6) pp. 634-638. 10.1016/j.parkreldis.2013.02.017.

Sheerin, U-M; Stamelou, M; Charlesworth, G; Shiner, T; Spacey, S; Valente, E-M; Wood, NW; (2013) Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation. JOURNAL OF NEUROLOGY , 260 (2) pp. 656-660. 10.1007/s00415-012-6747-4.

Stamelou, M; Adams, M; Davagnanam, I; Batla, A; Sheerin, U; Talbot, K; Bhatia, KP; (2013) Progressive ataxia and palatal tremor associated with dense pontine calcification: A unique case. Mov Disord , 28 (8) pp. 1155-1157. 10.1002/mds.25310. Green open access


Charlesworth, G; Gandhi, S; Bras, JM; Barker, RA; Burn, DJ; Chinnery, PF; Gentleman, SM; (2012) Tau acts as an independent genetic risk factor in pathologically proven PD. NEUROBIOLOGY OF AGING , 33 (4) 10.1016/j.neurobiolaging.2011.11.001.

Charlesworth, G; Plagnol, V; Holmström, KM; Bras, J; Sheerin, UM; Preza, E; Rubio-Agusti, I; (2012) Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. The American Journal of Human Genetics , 91 (6) 1041 - 1050. 10.1016/j.ajhg.2012.10.024. Green open access

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: (Proceedings) 64th Annual Meeting of the American-Academy-of-Neurology (AAN). LIPPINCOTT WILLIAMS & WILKINS

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

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

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: (Proceedings) British Human Genetics Conference. (pp. S122-S122). BMJ PUBLISHING GROUP

Sheerin, U-M; Charlesworth, G; Bras, J; Guerreiro, R; Bhatia, K; Foltynie, T; Limousin, P; (2012) Screening for VPS35 mutations in Parkinson's disease. NEUROBIOLOGY OF AGING , 33 (4) 10.1016/j.neurobiolaging.2011.10.032.

Tucci, A; Charlesworth, G; Sheerin, UM; Plagnol, V; Wood, NW; Hardy, J; (2012) Study of the genetic variability in a Parkinson's Disease gene: EIF4G1. Neurosci Lett , 518 (1) 19 - 22. 10.1016/j.neulet.2012.04.033. Green open access

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


Nalls, MA; Plagnol, V; Hernandez, DG; Sharma, M; Sheerin, UM; Saad, M; Simon-Sanchez, J; (2011) Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. LANCET , 377 (9766) 641 - 649. 10.1016/S0140-6736(10)62345-8.

Plagnol, V; Nalls, MA; Bras, JM; Hernandez, DG; Sharma, M; Sheerin, UM; Saad, M; (2011) A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease. PLoS Genetics , 7 (6) , Article e1002142. 10.1371/journal.pgen.1002142. Green open access


Sheerin, UM; Barreto, J; Brown, MM; Brew, S; Losseff, NA; (2008) Subarachnoid haemorrhage as the first clinical manifestation of Churg-Strauss syndrome. J NEUROL , 255 (4) 607 - 608. 10.1007/s00415-008-0765-2.

This list was generated on Sun Nov 13 12:45:55 2016 GMT.

Page last modified on 10 feb 14 13:57