Publications by authors named "Mary Reilly"

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Plasma periaxin is a biomarker of peripheral nerve demyelination.
Roberto Bellanti, Ryan Y S Keh, Stephen Keddie, Michael K L Chou, Mariya Misheva, Mary M Reilly

Brain· December 2025

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Pseudodominant Inheritance of Biallelic RFC1 Expansions-Revisiting the 3p22-p24 HSN1B Locus.
Bianca R Grosz, Melina Ellis, Shuchi Trivedi, Carolin Scriba, Marion Stoll, Mary M Reilly

J Peripher Nerv Syst· December 2025

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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, Mary M Reilly

J Clin Invest· December 2025

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ITPR1 Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome.
Saif Haddad, Roy Poh, Jason Hehir, James M Polke, Julian Blake, Mary M Reilly

J Peripher Nerv Syst· December 2025

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Impact of High-Dose Tafamidis on Hereditary ATTR (ATTRv) Amyloidosis With Central Nervous System Involvement: Two Case Reports With Clinical, Radiological and Cerebrospinal Fluid Follow Up.
Victor Jia Wei Zhang, Laura Mantoan Ritter, Chandrashekar Hoskote, Ata Siddiqui, Michael Lunn, Mary M Reilly

J Peripher Nerv Syst· December 2025

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Role of ambulatory blood pressure monitoring as a non-invasive autonomic screening tool in hereditary transthyretin amyloidosis.
Laura Sander, Giacomo Chiaro, Domenico Abelardo, Gordon Ingle, Patricia McNamara, Mary M Reilly

J Neurol Neurosurg Psychiatry· December 2025

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Electrophysiological findings in SH3TC2 neuropathy mimicking inflammatory neuropathies.
Rodrigo Siqueira Soares Frezatti, Pedro José Tomaselli, Manoella Guerra de Albuquerque Bueno, Fabricio Diniz de Lima, Camila Castelo Branco Pupe, Mary M Reilly

J Neurol Neurosurg Psychiatry· November 2025

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An Approach to Candidozyma auris Surveillance in a Low Prevalence Setting.
Angel N Desai, Amy Kingsley, Melanie Rilloraza, Colin Mcglynn, Mary Reilly

Am J Infect Control· November 2025

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Work-Related Asthma in the Cannabis Industry: Findings From California, Massachusetts, Michigan, and Washington.
Michelle Pacheco, Kathleen Fitzsimmons, Carolyn Reeb-Whitaker, Kenneth Rosenman, Jennifer Flattery, Mary Jo Reilly

J Occup Environ Med· 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, Mary M Reilly

Neurol Genet· October 2025

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Antisense oligonucleotides reverse SPTLC1-related hereditary sensory neuropathy in a mouse model.
Jinhong Meng, Shunyi Ma, Museer A Lone, Hou Wang Lam, Qiang Zhang, Mary M Reilly

Brain· October 2025

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Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability.
Ilaria Quartesan, Stefano Facchini, Arianna Manini, Ricardo Parolin Schnekenberg, Chiara Pisciotta, Mary M Reilly

medRxiv· October 2025

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Early cardiovascular autonomic failure in ATTRv predicts poor prognosis and may respond to disease-modifying therapy.
Laura Sander, Giacomo Chiaro, Domenico Abelardo, Angelo Torrente, Gordon T Ingle, Mary M Reilly

Amyloid· September 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, Mary M Reilly

J Peripher Nerv Syst· September 2025

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A Family With X-Linked Charcot-Marie-Tooth Disease Type 1: A Case for Reclassifying a Variant of Uncertain Significance in GJB1and Review of the Literature.
Christina Chrisman, Ritwik Keshav, Christopher J Record, David Shprecher, Saif Haddad, Mary M Reilly

J Clin Neuromuscul Dis· September 2025

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Response to Letter to the Editor.
Kenneth D Rosenman, Mary Jo Reilly

J Occup Environ Med· September 2025

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Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series.
J Robert Harkness, John H McDermott, Shea Marsden, Peter Jamieson, Kay A Metcalfe, Mary M Reilly

Lancet Neurol· August 2025

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ADGRG6-related disorder: a novel mutation resulting in distal arthrogryposis and a patchy neuropathy.
Valentine Perrain, Christopher J Record, Mariola Skorupinska, Julian Blake, Joanna Campbell, Mary M Reilly

Neuromuscul Disord· August 2025

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Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.
Camila Armirola-Ricaurte, Laura Morant, Isabelle Adant, Sherifa Ahmed Hamed, Menelaos Pipis, Mary M Reilly

Brain· August 2025

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Kennedy's disease from India: An Indian Cohort with multisystemic manifestations.
Saranya B Gomathy, William L Macken, Nimita Rani, Ayush Agarwal, Rakesh Singh, Mary M Reilly

J Neuromuscul Dis· July 2025

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CGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000 Genomes Project.
Alessandro Bertini, Stefano Facchini, Ilaria Quartesan, Riccardo Currò, Ricardo Parolin Schnekenberg, Mary M Reilly

J Neurol Neurosurg Psychiatry· July 2025

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Work-Related Asthma Mortality, Michigan 2003-2023.
Kenneth D Rosenman, Mary Jo Reilly

J Occup Environ Med· June 2025

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

J Peripher Nerv Syst· June 2025

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Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants.
Kailee S Ward, Christopher P Ptak, Natalya Pashkova, Tiffany Grider, Tabitha A Peterson, Mary M Reilly

Brain· June 2025

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Charcot-Marie-Tooth disease type 1E: Clinical Natural History and Molecular Impact of Variants.
Kailee S Ward, Christopher P Ptak, Natalya Pashkova, Tiffany Grider, Tabitha A Peterson, Mary M Reilly

medRxiv· May 2025

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