نتائج البحث - Mary M Reilly

Twelve‐month change in quantitative MRI calf muscle fat fraction in CMT1A predicts clinical change over 4 years حسب Matthew R. B. Evans, Hamza A. Salhab, Christopher D. J. Sinclair, Sachit Shah, Michael G. Hanna, Tarek A. Yousry, John S. Thornton, Jasper M. Morrow, Mary M. Reilly

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Association of common genetic variants with chronic axonal polyneuropathy in the general population: a genome-wide association study حسب 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

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Phenotypic, Electrophysiologic, and Imaging Spectrum of Hirayama Disease from Northern India حسب 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

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Development of an initial training and evaluation programme for manual lower limb muscle MRI segmentation حسب 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

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Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel <i>RAB7A</i> Mutation and Inhibited EGFR Degradation حسب 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

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Upper Limb Evaluation in Duchenne Muscular Dystrophy: Fat-Water Quantification by MRI, Muscle Force and Function Define Endpoints for Clinical Trials. حسب Valeria Ricotti, Matthew R B Evans, Christopher D J Sinclair, Jordan W Butler, Deborah A Ridout, Jean-Yves Hogrel, Ahmed Emira, Jasper M Morrow, Mary M Reilly, Michael G Hanna, Robert L Janiczek, Paul M Matthews, Tarek A Yousry, Francesco Muntoni, John S Thornton

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Optical Genome Mapping Enables Detection and Accurate Sizing of <i>RFC1</i> Repeat Expansions حسب 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

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The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia حسب 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

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Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing حسب 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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Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A حسب 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

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