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Exome Sequencing Identifies a Novel Homozygous Missense ATP13A2 Mutation.
Published in:
Movement Disorders Clinical Practice, 2017, v. 4, n. 1, p. 132, doi. 10.1002/mdc3.12353
By:
- Abbas, Masoom M.;
- Govindappa, Shyla T.;
- Sheerin, Una‐Marie;
- Bhatia, Kailash P.;
- Muthane, Uday B.
Publication type:
Article
Neurovascular complications in adults with Neurofibromatosis type 1: A national referral center experience.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3009, doi. 10.1002/ajmg.a.62931
By:
- Sheerin, Una‐Marie;
- Holmes, Paul;
- Childs, Lucy;
- Roy, Amit;
- Ferner, Rosalie E.
Publication type:
Article
Primary progressive multiple sclerosis developing in the context of young onset Parkinson’s disease.
Published in:
Multiple Sclerosis Journal, 2013, v. 19, n. 1, p. 123, doi. 10.1177/1352458512445942
By:
- Sadnicka, Anna;
- Sheerin, Una-Marie;
- Kaplan, Charles;
- Molloy, Sophie;
- Muraro, Paolo A
Publication type:
Article
Creation of an Open-Access, Mutation-Defined Fibroblast Resource for Neurological Disease Research.
Published in:
PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0043099
By:
- Wray, Selina;
- Self, Matthew;
- Lewis, Patrick A.;
- Taanman, Jan-Willem;
- Ryan, Natalie S.;
- Mahoney, Colin J.;
- Yuying Liang;
- Devine, Michael J.;
- Sheerin, Una-Marie;
- Houlden, Henry;
- Morris, Huw R.;
- Healy, Daniel;
- Marti-Masso, Jose-Felix;
- Preza, Elisavet;
- Barker, Suzanne;
- Sutherland, Margaret;
- Corriveau, Roderick A.;
- D'Andrea, Michael;
- Schapira, Anthony H. V.;
- Uitti, Ryan J.
Publication type:
Article
Subarachnoid haemorrhage as the first clinical manifestation of Churg-Strauss syndrome.
Published in:
Journal of Neurology, 2008, v. 255, n. 4, p. 607, doi. 10.1007/s00415-008-0765-2
By:
- Sheerin, Una-Marie;
- Barreto, Julio;
- Brown, Martin M.;
- Brew, Stefan;
- Losseff, Nicholas A.
Publication type:
Article
Glycine receptor antibodies in PERM and related syndromes: characteristics, clinical features and outcomes.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 8, p. 2178, doi. 10.1093/brain/awu142
By:
- Carvajal-González, Alexander;
- Leite, M. Isabel;
- Waters, Patrick;
- Woodhall, Mark;
- Coutinho, Ester;
- Balint, Bettina;
- Lang, Bethan;
- Pettingill, Philippa;
- Carr, Aisling;
- Sheerin, Una-Marie;
- Press, Raomand;
- Lunn, Michael P.;
- Lim, Ming;
- Maddison, Paul;
- Meinck, H.-M.;
- Vandenberghe, Wim;
- Vincent, Angela
Publication type:
Article
Clinical, Pathological and Genetic Findings in Two Manifesting Carriers of Duchenne Muscular Dystrophy.
Published in:
2007
By:
- Sheerin, Una-Marie;
- Al-Memar, Ali
Publication type:
Abstract
Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation.
Published in:
2013
By:
- Sheerin, Una-Marie;
- Stamelou, Maria;
- Charlesworth, Gavin;
- Shiner, Tamara;
- Spacey, Sian;
- Valente, Enza-Maria;
- Wood, Nicholas;
- Bhatia, Kailash
Publication type:
Letter
Parkinson's disease-linked mutations in VPS35 induce dopaminergic neurodegeneration.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 17, p. 4621, doi. 10.1093/hmg/ddu178
By:
- Tsika, Elpida;
- Glauser, Liliane;
- Moser, Roger;
- Fiser, Aris;
- Daniel, Guillaume;
- Sheerin, Una-Marie;
- Lees, Andrew;
- Troncoso, Juan C.;
- Lewis, Patrick A.;
- Bandopadhyay, Rina;
- Schneider, Bernard L.;
- Moore, Darren J.
Publication type:
Article
Paroxysmal dyskinesias revisited: A review of 500 genetically proven cases and a new classification.
Published in:
Movement Disorders, 2014, v. 29, n. 9, p. 1108, doi. 10.1002/mds.25933
By:
- Erro, Roberto;
- Sheerin, Una‐Marie;
- Bhatia, Kailash P.
Publication type:
Article
Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations.
Published in:
Movement Disorders, 2014, v. 29, n. 8, p. 1060, doi. 10.1002/mds.25883
By:
- Proukakis, Christos;
- Shoaee, Maryiam;
- Morris, James;
- Brier, Timothy;
- Kara, Eleanna;
- Sheerin, Una‐Marie;
- Charlesworth, Gavin;
- Tolosa, Eduardo;
- Houlden, Henry;
- Wood, Nicholas W.;
- Schapira, Anthony H.
Publication type:
Article
The phenotypic spectrum of DYT24 due to ANO3 mutations.
Published in:
Movement Disorders, 2014, v. 29, n. 7, p. 928, doi. 10.1002/mds.25802
By:
- Stamelou, Maria;
- Charlesworth, Gavin;
- Cordivari, Carla;
- Schneider, Susanne A.;
- Kägi, Georg;
- Sheerin, Una‐Marie;
- Rubio‐Agusti, Ignacio;
- Batla, Amit;
- Houlden, Henry;
- Wood, Nicholas W.;
- Bhatia, Kailash P.
Publication type:
Article
The Phenotypic Spectrum of DYT24 Due to ANO3 Mutations.
Published in:
Movement Disorders, 2014, v. 29, p. 928, doi. 10.1002/mds.25802
By:
- Stamelou, Maria;
- Charlesworth, Gavin;
- Cordivari, Carla;
- Schneider, Susanne A.;
- Kägi, Georg;
- Sheerin, Una-Marie;
- Rubio-Agusti, Ignacio;
- Batla, Amit;
- Houlden, Henry;
- Wood, Nicholas W.;
- Bhatia, Kailash P.
Publication type:
Article
Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family.
Published in:
2012
By:
- Kojovic M;
- Sheerin UM;
- Rubio-Agusti I;
- Saha A;
- Bras J;
- Gibbons V;
- Palmer R;
- Houlden H;
- Hardy J;
- Wood NW;
- Bhatia KP;
- Kojovic, Maja;
- Sheerin, Una-Marie;
- Rubio-Agusti, Ignacio;
- Saha, Anirban;
- Bras, Jose;
- Gibbons, Vaneesha;
- Palmer, Rodger;
- Houlden, Henry;
- Hardy, John
Publication type:
Case Study
Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family.
Published in:
Movement Disorders, 2012, v. 27, n. 14, p. 1829, doi. 10.1002/mds.25199
By:
- Kojovic, Maja;
- Sheerin, Una-Marie;
- Rubio-Agusti, Ignacio;
- Saha, Anirban;
- Bras, Jose;
- Gibbons, Vaneesha;
- Palmer, Rodger;
- Houlden, Henry;
- Hardy, John;
- Wood, Nicholas W.;
- Bhatia, Kailash P.
Publication type:
Article

Found: 15