Publications by authors named "Robyn Labrum"

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Genetic testing for Huntington's disease: Past, present and future. How could genetic data be used to improve clinical practice?
Davina J Hensman Moss, Rhiannon Ireland, Guy Chapman, Rhona MacLeod, Robyn Labrum

J Huntingtons Dis· December 2025

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Role of Repeat Tract Structure and the rs7158733 SNP in Spinocerebellar Ataxia 3.
Suran Nethisinghe, Hector Garcia-Moreno, Jude Alwan, Robyn Labrum, Paola Giunti

Int J Mol Sci· October 2025

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Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.
Micol Falabella, Chiara Pizzamiglio, Luis Carlos Tabara, Benjamin Munro, Mohamed S Abdel-Hamid, Robyn Labrum

Brain· February 2025

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Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture Kits.
Clarissa Rocca, David Murphy, Chris Clarkson, Matteo Zanovello, Delia Gagliardi, Robyn Labrum

Genes (Basel)· January 2025

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Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease.
Clodagh Towns, Zih-Hua Fang, Manuela M X Tan, Simona Jasaityte, Theresa M Schmaderer, Robyn Labrum

NPJ Parkinsons Dis· October 2024

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Leukoencephalopathy caused by a 17p13.3 microdeletion.
Charles Wade, Thomas Williams, Robyn Labrum, Yogen Patel, Elisa Cali

J Neurol Neurosurg Psychiatry· February 2024

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Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications.
William L Macken, Micol Falabella, Chiara Pizzamiglio, Cathy E Woodward, Elizabeth Scotchman, Robyn Labrum

Expert Rev Mol Diagn· October 2023

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Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines.
Eleni Mavraki, Robyn Labrum, Kate Sergeant, Charlotte L Alston, Cathy Woodward

Eur J Hum Genet· February 2023

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Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
William L Macken, Micol Falabella, Caroline McKittrick, Chiara Pizzamiglio, Rebecca Ellmers, Robyn Labrum

Nat Commun· November 2022

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

Front Neurol· December 2021

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Interruptions of the GAA Repeat Tract Delay the Age at Onset of Friedreich's Ataxia in a Location Dependent Manner.
Suran Nethisinghe, Maheswaran Kesavan, Heather Ging, Robyn Labrum, James M Polke

Int J Mol Sci· July 2021

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Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.
Olivia V Poole, Chiara Pizzamiglio, David Murphy, Micol Falabella, William L Macken, Robyn Labrum

Ann Neurol· June 2021

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The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich's ataxia.
Wai Yan Yau, Mafalda Raposo, Conceição Bettencourt, Robyn Labrum, João Vasconcelos

Brain· April 2020

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Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia.
Alhassane Diallo, Heike Jacobi, Arron Cook, Paola Giunti, Michael H Parkinson, Robyn Labrum

Mov Disord· August 2019

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Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17.
Suran Nethisinghe, Wei N Lim, Heather Ging, Anna Zeitlberger, Rosella Abeti, Robyn Labrum

Front Cell Neurosci· November 2018

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Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias.
Heike Jacobi, Sophie Tezenas du Montcel, Peter Bauer, Paola Giunti, Arron Cook, Robyn Labrum

J Neurol· September 2018

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PolyQ Tract Toxicity in SCA1 is Length Dependent in the Absence of CAG Repeat Interruption.
Suran Nethisinghe, Maria Lucia Pigazzini, Sally Pemble, Mary G Sweeney, Robyn Labrum

Front Cell Neurosci· July 2018

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Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study.
Alhassane Diallo, Heike Jacobi, Arron Cook, Robyn Labrum, Alexandra Durr

Lancet Neurol· April 2018

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Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression.
Alhassane Diallo, Heike Jacobi, Tanja Schmitz-Hübsch, Arron Cook, Robyn Labrum

Mov Disord Clin Pract· August 2017

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Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.
Charles A Galea, Aamira Huq, Paul J Lockhart, Geneieve Tai, Louise A Corben, Robyn Labrum

Ann Neurol· March 2016

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In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2.
Susan E Tomlinson, S Veronica Tan, David Burke, Robyn W Labrum, Andrea Haworth

Brain· February 2016

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The clinical and genetic heterogeneity of paroxysmal dyskinesias.
Alice R Gardiner, Fatima Jaffer, Russell C Dale, Robyn Labrum, Roberto Erro

Brain· December 2015

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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

Lancet Neurol· November 2015

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Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1.
Susan Elizabeth Tomlinson, Sanjeev Rajakulendran, Stella Veronica Tan, Tracey Dawn Graves, Doris-Eva Bamiou, Robyn W Labrum

J Neurol Neurosurg Psychiatry· October 2013

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Effect of vagus nerve stimulation in an adult patient with Dravet syndrome: contribution to sudden unexpected death in epilepsy risk reduction?
Marianna Spatola, Pierre-Yves Jeannet, Claudio Pollo, Christian Wider, Robyn Labrum

Eur Neurol· August 2013

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