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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.
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Leonard Wolfson Experimental Neurology Centre (LWENC)

The new Leonard Wolfson Experimental Neurology Centre (LWENC) has opened for clinical studies and trials

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Audioslide presentation on Claudia Manzoni's paper examining how fibroblasts with LRRK2 mutations react to starvation conditions and the possible deficits that they have in autophagy.

LRRK2 and autophagy in fibroblasts

In this paper Claudia Manzoni studies how fibroblast cells from people with Parkinson’s disease caused by mutations in LRRK2 react to starvation. Although the changes are quite subtle, there are differences between the way that fibroblasts that contain mutant LRRK2 respond to being starved – suggesting that there may be changes in the way that these cells regulate a key process called autophagy (a term which comes from the greek meaning to eat yourself, and is one of the ways that cells get rid of waste and recycle proteins and organellles).
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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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Jump to: 2014 | 2013 | 2012 | 2011 | 2008
Number of items: 17.

2014

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
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2013

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 Neurol , 70 (6) 727 - 735. 10.1001/jamaneurol.2013.1925.

Rubio-Agusti, I; Pareés, 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 Relat Disord , 19 (6) 634 - 638. 10.1016/j.parkreldis.2013.02.017.

Sheerin, UM; Stamelou, M; Charlesworth, G; Shiner, T; Spacey, S; Valente, EM; Wood, NW; (2013) Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation. J Neurol , 260 (2) 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
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2012

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. Neurobiol Aging , 33 (4) 838.e7 - 838.11. 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
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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
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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
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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).

Sheerin, UM; Charlesworth, G; Bras, J; Guerreiro, R; Bhatia, K; Foltynie, T; Limousin, P; (2012) Screening for VPS35 mutations in Parkinson's disease. Neurobiol Aging , 33 (4) 838.e1 - 838.e5. 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
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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
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2011

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
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2008

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 Thu Jul 23 11:11:15 2015 BST.

Page last modified on 10 feb 14 13:57