Resultats de la cerca - Robyn Labrum

Friedreich's Ataxia Frequency in a Large Cohort of Genetically Undetermined Ataxia Patients per Alexander F. Brown, Michael H. Parkinson, Hector Garcia-Moreno, Ese Mudanohwo, Robyn Labrum, Mary Sweeney, Paola Giunti

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PolyQ Tract Toxicity in SCA1 is Length Dependent in the Absence of CAG Repeat Interruption per Suran Nethisinghe, Maria Lucia Pigazzini, Sally Pemble, Mary G. Sweeney, Robyn Labrum, Katarina Manso, David Moore, Jon Warner, Mary B. Davis, Paola Giunti

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Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing per William L. Macken, Micol Falabella, Caroline McKittrick, Chiara Pizzamiglio, Rebecca Ellmers, Kelly Eggleton, Cathy E. Woodward, Yogen Patel, Robyn Labrum, Genomics England Research Consortium, Rahul Phadke, Mary M. Reilly, Catherine DeVile, Anna Sarkozy, Emma Footitt, James Davison, Shamima Rahman, Henry Houlden, Enrico Bugiardini, Rosaline Quinlivan, Michael G. Hanna, Jana Vandrovcova, Robert D. S. Pitceathly

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Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17 per Suran Nethisinghe, Wei N. Lim, Heather Ging, Anna Zeitlberger, Rosella Abeti, Sally Pemble, Mary G. Sweeney, Robyn Labrum, Charisse Cervera, Henry Houlden, Henry Houlden, Elisabeth Rosser, Patricia Limousin, Angus Kennedy, Michael P. Lunn, Kailash P. Bhatia, Nicholas W. Wood, John Hardy, John Hardy, James M. Polke, Liana Veneziano, Alfredo Brusco, Alfredo Brusco, Mary B. Davis, Paola Giunti

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Parkinson’s families project: a UK-wide study of early onset and familial Parkinson’s disease per Clodagh Towns, Zih-Hua Fang, Manuela M. X. Tan, Simona Jasaityte, Theresa M. Schmaderer, Eleanor J. Stafford, Miriam Pollard, Russel Tilney, Megan Hodgson, Lesley Wu, Robyn Labrum, Jason Hehir, James Polke, Lara M. Lange, Anthony H. V. Schapira, Kailash P. Bhatia, Parkinson’s Families Project (PFP) Study Group, Global Parkinson’s Genetics Program (GP2), Andrew B. Singleton, Cornelis Blauwendraat, Christine Klein, Henry Houlden, Nicholas W. Wood, Paul R. Jarman, Huw R. Morris, Raquel Real

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