M

Researcher Profile

Mary M. Reilly

0000-0003-0686-905x

7

Publications

816

Citations

10

Co-Authors

6

Active Years

Publications

Open Access Journal Article JACC: Heart Failure Apr 01, 2026

Early Diagnosis of ATTR-CM Using Carpal Tunnel Biopsy Examination

Yousuf Razvi · Janet Gilbertson · Carlos Heras-Palou · Jeremy Bland +27 more

10.1016/j.jchf.2025.102890 4 citations

Open Access Journal Article Nature Communications Jul 27, 2024

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

Andrea Cortese · Sarah J. Beecroft · Stefano Facchini · Riccardo Curro +80 more

10.1038/s41467-024-49950-2 23 citations

Journal Article Neurology Jan 31, 2023

Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

Riccardo Ronco · Cecilia Perini · Riccardo Curro · Natalia Dominik +29 more

10.1212/wnl.0000000000201486 46 citations

Journal Article Nature Reviews Neurology Oct 03, 2019

Next-generation sequencing in Charcot–Marie–Tooth disease: opportunities and challenges

Menelaos Pipis · Alexander M. Rossor · Matilde Laura · Mary M. Reilly

10.1038/s41582-019-0254-5 177 citations

Journal Article Nature Genetics Mar 29, 2019

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Andrea Cortese · Roberto Simone · Roisin Sullivan · Jana Vandrovcova +26 more

10.1038/s41588-019-0372-4 505 citations

Journal Article Neurology Apr 11, 2017

Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT

Pedro J. Tomaselli · Alexander M. Rossor · Alejandro Horga · Zane Jaunmuktane +10 more

10.1212/wnl.0000000000003819 56 citations

Journal Article Annals of Neurology Dec 01, 2009

NEFL‐related Charcot–Marie–Tooth disease: An unraveling story

10.1002/ana.21848 5 citations

Publication Timeline

2026

1

2024

1

2023

1

2019

2

2017

1

2009

1

Frequent Co-Authors

Alexander M. Rossor

Natalia Dominik

Pedro J. Tomaselli

Stefano Facchini