Publications by authors named "Alexander Rossor"

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Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.
Natalia Dominik, Stephanie Efthymiou, Christopher J Record, Xinyu Miao, Renee Q Lin, Alexander M Rossor

J Clin Invest· December 2025

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Severe lupus vasculitic neuropathy.
Apoorva Anil Kumar, Victor Jia Wei Zhang, Carine J Moezinia, Sarah Levy, Fernanda Ruiz, Alexander M Rossor

Pract Neurol· November 2025

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Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.
Andrea Cortese, Maike F Dohrn, Riccardo Curro, Sara Negri, Petra Lassuthova, Alexander M Rossor

Brain· October 2025

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Peripheral Neuropathy in p.Val142Ile (Val122Ile) Variant Hereditary Transthyretin-Mediated Amyloidosis: United Kingdom Experience.
Victor Jia Wei Zhang, Luke F O'Donnell, Mariola Skorupinska, Roy Carganillo, Alexander M Rossor

Neurol Genet· October 2025

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Skin Biopsy as a Diagnostic Tool for ATTRv Amyloid Neuropathy in the UK.
Luke F O'Donnell, Victor Zhang, Roy Carganillo, Alexander M Rossor, Matilde Laura

J Peripher Nerv Syst· September 2025

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A Case Series of Unilateral Peripheral Neuropathy.
Caroline Kramarz, Marion Masingue, Françoise Bouhour, Christophe Vial, Philippe Latour, Alexander M Rossor

J Peripher Nerv Syst· June 2025

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Modern nutritional neuropathies.
Alexander Rossor

Pract Neurol· May 2025

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Heterozygous PNPT1 Variants Cause a Sensory Ataxic Neuropathy.
Saif Haddad, Christopher J Record, Eleanor Self, Mariola Skorupinska, Alexander M Rossor

Eur J Neurol· February 2025

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The evolving spectrum of complex inherited neuropathies.
Alexander M Rossor, Saif Haddad, Mary M Reilly

Curr Opin Neurol· October 2024

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Autosomal recessive -related disorder: comprehensive analysis of phenotypic variability and genetic mutations.
Sara Nagy, Alistair T Pagnamenta, Elisa Cali, Hilde M H Braakman, Juerd Wijntjes, Alexander M Rossor

Brain Commun· October 2024

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Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
Christopher J Record, Menelaos Pipis, Mariola Skorupinska, Julian Blake, Roy Poh, Alexander M Rossor

Brain· September 2024

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RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
Reza Maroofian, Payam Sarraf, Thomas J O'Brien, Mona Kamel, Arman Cakar, Alexander M Rossor

Brain· July 2024

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Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1A.
Carolynne M Doherty, Paige Howard, Luke F O'Donnell, Riccardo Zuccarino, Stephen Wastling, Alexander M Rossor

Ann Neurol· July 2024

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Serum neurofilament light chain in hereditary transthyretin amyloidosis: validation in real-life practice.
Antonia S Carroll, Yousuf Razvi, Luke O'Donnell, Elena Veleva, Amanda Heslegrave, Alexander M Rossor

Amyloid· June 2024

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Quantitative MRI outcome measures in CMT1A using automated lower limb muscle segmentation.
Luke F O'Donnell, Menelaos Pipis, John S Thornton, Baris Kanber, Stephen Wastling, Alexander M Rossor

J Neurol Neurosurg Psychiatry· May 2024

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Digenic FLNA and UCHL1 variants resulting in a complex phenotype.
Helena F Pernice, Luke F O'Donnell, Alexander M Rossor, Matilde Laura, Christopher J Record

J Peripher Nerv Syst· March 2024

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Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A.
Carolynne M Doherty, Jasper M Morrow, Riccardo Zuccarino, Paige Howard, Stephen Wastling, Alexander M Rossor

Ann Clin Transl Neurol· March 2024

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Strachan's syndrome and riboflavin deficiency.
Caroline Kramarz, James McHugh, Alexander Rossor

Pract Neurol· March 2024

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Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum.
Ilaria Quartesan, Elisa Vegezzi, Riccardo Currò, Amanda Heslegrave, Chiara Pisciotta, Alexander M Rossor

Mov Disord· January 2024

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Nutritional peripheral neuropathies.
Caroline Kramarz, Elaine Murphy, Mary M Reilly, Alexander M Rossor

J Neurol Neurosurg Psychiatry· December 2023

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Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Annette Lischka, Katja Eggermann, Christopher J Record, Maike F Dohrn, Petra Laššuthová, Alexander M Rossor

Brain· December 2023

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Trigeminal neuropathy from root entry zone infarction.
Mena Farag, Sina Kafiabadi, Amit Roy, Alexander M Rossor, Paul Holmes

Pract Neurol· November 2023

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Toxic neuropathies.
Alexander M Rossor, Hadi Manji

Curr Opin Neurol· October 2023

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Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis.
Diana Esteller, Jasper Morrow, Jorge Alonso-Pérez, David Reyes, Alvaro Carbayo, Alexander M Rossor

Neuromuscul Disord· October 2023

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The role of PMP22 T118M in Charcot-Marie-Tooth disease remains unsolved.
Christopher J Record, Matilde Laura, Alexander M Rossor, Mary M Reilly

J Biol Chem· September 2023

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