Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy by Alexander M. Rossor, James N. Sleigh, Michael Groves, Francesco Muntoni, Mary M. Reilly, Casper C. Hoogenraad, Giampietro Schiavo

Get full text

A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot–Marie–Tooth disease by James R. Edgar, Anita K. Ho, Matilde Laurá, Rita Horvath, Mary M. Reilly, J. Paul Luzio, Rhys C. Roberts

Get full text

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies by Enrico Bugiardini, Jasper M. Morrow, Sachit Shah, Sachit Shah, Claire L. Wood, David S. Lynch, Alan M. Pitmann, Mary M. Reilly, Mary M. Reilly, Henry Houlden, Emma Matthews, Matt Parton, Michael G. Hanna, Michael G. Hanna, Volker Straub, Tarek A. Yousry, Tarek A. Yousry, Tarek A. Yousry

Get full text

Hereditary sensory neuropathy type 1-associated deoxysphingolipids cause neurotoxicity, acute calcium handling abnormalities and mitochondrial dysfunction in vitro by Emma R. Wilson, Umaiyal Kugathasan, Andrey Y. Abramov, Alex J. Clark, David L.H. Bennett, Mary M. Reilly, Linda Greensmith, Bernadett Kalmar

Get full text

Association of common genetic variants with chronic axonal polyneuropathy in the general population: a genome-wide association study by Noor E. Taams, Noor E. Taams, Maria J. Knol, Rens Hanewinckel, Judith Drenthen, Mary M. Reilly, Pieter A. van Doorn, Hieab H. H. Adams, Hieab H. H. Adams, M. Arfan Ikram

Get full text

Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A by Katy Eichinger, Janet E. Sowden, Joshua Burns, Michael P. McDermott, Michael P. McDermott, Jeffrey Krischer, John Thornton, Davide Pareyson, Steven S. Scherer, Michael E. Shy, Mary M. Reilly, David N. Herrmann

Get full text

Phenotypic, Electrophysiologic, and Imaging Spectrum of Hirayama Disease from Northern India by Saranya B Gomathy, Yamini Priyanka, Ajay Garg, William L Macken, Ayush Agarwal, Tanveer Ahmed, Rohit Bhatia, Vinay Goel, Kanwaljeet Garg, Robert DS Pitceathly, Mary M Reilly, Michael G Hanna, MV Padma Srivastava, Venugopalan Y Vishnu

Get full text

Development of an initial training and evaluation programme for manual lower limb muscle MRI segmentation by Jasper M. Morrow, Sachit Shah, Lara Cristiano, Matthew R. B. Evans, Carolynne M. Doherty, Talal Alnaemi, Abeer Saab, Ahmed Emira, Uros Klickovic, Ahmed Hammam, Afnan Altuwaijri, Stephen Wastling, Mary M. Reilly, Michael G. Hanna, Tarek A. Yousry, John S. Thornton

Get full text

Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel <i>RAB7A</i> Mutation and Inhibited EGFR Degradation by Paola Saveri, Maria De Luca, Veronica Nisi, Chiara Pisciotta, Roberta Romano, Giuseppe Piscosquito, Mary M. Reilly, James M. Polke, Tiziana Cavallaro, Gian Maria Fabrizi, Paola Fossa, Elena Cichero, Raffaella Lombardi, Giuseppe Lauria, Stefania Magri, Franco Taroni, Davide Pareyson, Cecilia Bucci

Get full text

Divergent amino acid and sphingolipid metabolism in patients with inherited neuro-retinal disease by Courtney R. Green, Roberto Bonelli, Brendan R.E. Ansell, Simone Tzaridis, Michal K. Handzlik, Grace H. McGregor, Barbara Hart, Jennifer Trombley, Mary M. Reilly, Paul S. Bernstein, Catherine Egan, Marcus Fruttiger, Martina Wallace, Melanie Bahlo, Martin Friedlander, Christian M. Metallo, Marin L. Gantner

Get full text

Optical Genome Mapping Enables Detection and Accurate Sizing of <i>RFC1</i> Repeat Expansions by Stefano Facchini, Natalia Dominik, Arianna Manini, Stephanie Efthymiou, Riccardo Currò, Bianca Rugginini, Elisa Vegezzi, Ilaria Quartesan, Benedetta Perrone, Shahedah Koya Kutty, Valentina Galassi Deforie, Ricardo P. Schnekenberg, Elena Abati, Anna Pichiecchio, Enza Maria Valente, Cristina Tassorelli, Mary M. Reilly, Henry Houlden, Enrico Bugiardini, Andrea Cortese

Get full text

Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A by Hongge Wang, Matthew Davison, Kathryn Wang, Tai‐He Xia, Martin Kramer, Katherine Call, Jun Luo, Xingyao Wu, Riccardo Zuccarino, Chelsea Bacon, Yunhong Bai, John J. Moran, Laurie Gutmann, Shawna M. E. Feely, Tiffany Grider, Alexander M. Rossor, Mary M. Reilly, John Svaren, Michael E. Shy

Get full text

Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS by Kayla M. D. Cornett, Manoj P. Menezes, Paula Bray, Rosemary R. Shy, Isabella Moroni, Emanuela Pagliano, Davide Pareyson, Tim Estilow, Sabrina W. Yum, Trupti Bhandari, Francesco Muntoni, Matilde Laura, Mary M. Reilly, Richard S. Finkel, Katy J. Eichinger, David N. Herrmann, Michael E. Shy, Joshua Burns, CMTPedS Study Group

Get full text

The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia by Amokelani C. Mahungu, Amokelani C. Mahungu, Elizabeth Steyn, Niki Floudiotis, Lindsay A. Wilson, Jana Vandrovcova, Mary M. Reilly, Christopher J. Record, Michael Benatar, Gang Wu, Sharika Raga, Sharika Raga, Jo M. Wilmshurst, Jo M. Wilmshurst, Kireshnee Naidu, Michael Hanna, Michael Hanna, Melissa Nel, Melissa Nel, Jeannine M. Heckmann, Jeannine M. Heckmann

Get full text

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing by 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

Get full text

Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders by Jonathan Gilley, Oscar Jackson, Menelaos Pipis, Mehrdad A Estiar, Ammar Al-Chalabi, Matt C Danzi, Kristel R van Eijk, Stephen A Goutman, Matthew B Harms, Henry Houlden, Alfredo Iacoangeli, Julia Kaye, Leandro Lima, Queen Square Genomics, John Ravits, Guy A Rouleau, Rebecca Schüle, Jishu Xu, Stephan Züchner, Johnathan Cooper-Knock, Ziv Gan-Or, Mary M Reilly, Michael P Coleman

Get full text

Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A by Carolynne M. Doherty, Jasper M. Morrow, Riccardo Zuccarino, Paige Howard, Stephen Wastling, Menelaos Pipis, Nick Zafeiropoulos, Katherine J. Stephens, Tiffany Grider, Shawna M. E. Feely, Peggy Nopoulous, Mariola Skorupinska, Evelin Milev, Emma Nicolaisen, Magdalena Dudzeic, Amy McDowell, Nuran Dilek, Francesco Muntoni, Alexander M. Rossor, Sachit Shah, Matilde Laura, Tarek A. Yousry, Daniel Thedens, John Thornton, Michael E. Shy, Mary M. Reilly

Get full text