Publications by authors named "Matilde Laura"

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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

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

medRxiv· 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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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, Matilde Laura

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, Matilde Laura

medRxiv· May 2025

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Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype.
Christopher J Record, Antoinette O'Connor, Nienke E Verbeek, Wouter van Rheenen, Eleni Zamba Papanicolaou, Matilde Laura

Ann Neurol· February 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, Matilde Laura

Eur J Neurol· February 2025

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Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13.
Alessandro Bertini, Mary M Reilly, Chiara Pisciotta, Stefano C Previtali, Yesim Parman

Eur J Neurol· February 2025

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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, Matilde Laura

Brain· September 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, Matilde Laura

Ann Neurol· July 2024

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Foot surgery for adults with Charcot-Marie-Tooth disease.
Matilde Laurá, James Barnett, Joanna Benfield, Gita M Ramdharry, Matthew J Welck

Pract Neurol· July 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, Matilde Laura

J Neurol Neurosurg Psychiatry· May 2024

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Intermediate conduction velocity in two cases of Charcot-Marie-Tooth disease type 1A.
Pedro José Tomaselli, Julian Blake, James M Polke, Osvaldo José Moreira do Nascimento, Mary M Reilly

Eur J Neurol· 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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Home-based multi-sensory and proximal strengthening program to improve balance in Charcot-Marie-Tooth disease Type 1A: A proof of concept study.
Magdalena M Dudziec, Laurence E Lee, Charlotte Massey, David Tropman, Mariola Skorupinska

Muscle Nerve· 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, Matilde Laura

Ann Clin Transl Neurol· March 2024

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Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts.
Andrea Cortese, Riccardo Currò, Riccardo Ronco, Julian Blake, Alex M Rossor

Eur J Neurol· January 2024

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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, Matilde Laura

Brain· December 2023

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Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Christopher J Record, Mariola Skorupinska, Matilde Laura, Alexander M Rossor, Davide Pareyson

Brain· October 2023

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Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1.
Menelaos Pipis, Seongsik Won, Roy Poh, Stephanie Efthymiou, James M Polke, Matilde Laura

Brain· 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, Matilde Laura

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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Pregnancy and delivery in patients with Charcot-Marie-Tooth disease and related disorders.
Mariola Skorupinska, Gita Ramdharry, Bridgette Byrne, Matilde Laurá, Mary M Reilly

Obstet Med· June 2023

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Incidence and risk factors for patellofemoral dislocation in adults with Charcot-Marie-Tooth disease: An observational study.
Enza Leone, Sally Davenport, Claire Robertson, Matilde Laurà, Mariola Skorupinska

Physiother Res Int· February 2023

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Virtual Charcot-Marie-Tooth Examination Score: A Validated Virtual Evaluation for People With Charcot-Marie-Tooth Disease.
Valeria Prada, Matilde Laurà, Riccardo Zuccarino, Mary M Reilly, Michael E Shy

Neurol Clin Pract· October 2022

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