R
Robyn Labrum
Researcher at University College London
Publications - 28
Citations - 1508
Robyn Labrum is an academic researcher from University College London. The author has contributed to research in topics: Ataxia & Spinocerebellar ataxia. The author has an hindex of 15, co-authored 25 publications receiving 1150 citations. Previous affiliations of Robyn Labrum include UCL Institute of Neurology & University College Hospital.
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Journal ArticleDOI
Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study
Heike Jacobi,Sophie Tezenas du Montcel,Peter Bauer,Paola Giunti,Arron Cook,Robyn Labrum,Michael H Parkinson,Alexandra Durr,Alexis Brice,Perrine Charles,Cecilia Marelli,Caterina Mariotti,Lorenzo Nanetti,Marta Panzeri,Maria Rakowicz,Anna Sulek,Anna Sobanska,Tanja Schmitz-Hübsch,Ludger Schöls,Ludger Schöls,Holger Hengel,Holger Hengel,Laszlo Baliko,Béla Melegh,Alessandro Filla,Antonella Antenora,Jon Infante,José Berciano,Bart P.C. van de Warrenburg,Dagmar Timmann,Sandra Szymanski,Sylvia Boesch,Jun Suk Kang,Massimo Pandolfo,Jörg B. Schulz,Sonia Molho,Alhassane Diallo,Thomas Klockgether,Thomas Klockgether +38 more
TL;DR: This study provides quantitative data on the progression of the most common spinocerebellar ataxias based on a follow-up period that exceeds those of previous studies and could prove useful for sample size calculation and patient stratification in interventional trials.
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Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology
Claudia B. Catarino,Joan Liu,Ioannis Liagkouras,Vaneesha Gibbons,Robyn Labrum,Rachael Ellis,Cathy E. Woodward,Mary B. Davis,Shelagh J.M. Smith,J. Helen Cross,J. Helen Cross,Richard Appleton,Simone C. Yendle,Jacinta M McMahon,Susannah T. Bellows,Thomas S. Jacques,Thomas S. Jacques,Sameer M. Zuberi,Matthias J. Koepp,Lillian Martinian,Ingrid E. Scheffer,Ingrid E. Scheffer,Maria Thom,Sanjay M. Sisodiya +23 more
TL;DR: Evidence is provided that Dravet syndrome is at least in part an epileptic encephalopathy, and there was remarkable preservation of neurons and interneurons in the neocortex and hippocampi of DraveT adult post-mortem cases.
Journal ArticleDOI
Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.
Emma Matthews,Robyn Labrum,Mary G. Sweeney,Richa Sud,A Haworth,Patrick F. Chinnery,Giovanni Meola,Stephanie Schorge,Dimitri M. Kullmann,Mary B. Davis,Michael G. Hanna +10 more
TL;DR: Arginine mutations in S4 segments underlie 90% of hypokalemic periodic paralysis cases and all mutations affected arginine residues were consistent with the gating pore cation leak hypothesis ofHypokalogical periodic paralysis.
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Responsiveness of different rating instruments in spinocerebellar ataxia patients.
T. Schmitz-Hübsch,Rolf Fimmers,Maryla Rakowicz,Rafał Rola,E. Zdzienicka,Roberto Fancellu,Christian Mariotti,Christoph Linnemann,Ludger Schöls,Dagmar Timmann,A. Filla,Elena Salvatore,Jon Infante,Paola Giunti,Robyn Labrum,Berry Kremer,B.P.C. van de Warrenburg,L. Baliko,Béla Melegh,Chantal Depondt,Jörg B. Schulz,S. Tezenas du Montcel,Thomas Klockgether +22 more
TL;DR: The EQ-5D visual analogue scale proved insufficient for longitudinal assessment, but validly reflected patients' impression of change, and the clinical relevance of SCAFI and 9-hole pegboard score changes warrants further exploration.
Journal ArticleDOI
The clinical and genetic heterogeneity of paroxysmal dyskinesias.
A. Gardiner,Fatima Jaffer,Russell C. Dale,Robyn Labrum,Roberto Erro,Esther Meyer,Georgia Xiromerisiou,Maria Stamelou,Matthew C. Walker,Dimitri M. Kullmann,Thomas T. Warner,P Jarman,Michael G. Hanna,Manju A. Kurian,Kailash P. Bhatia,Henry Houlden +15 more
TL;DR: Gardiner et al. identify mutations in 47% of 145 individuals with paroxysmal dyskinesias, with PRRT2 mutations in 35%, SLC2A1 in 10% and PNKD in 2%.