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Authors: Mary M. Reilly
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Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

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Andrea Cortese and others
Brain, awaf021, https://doi.org/10.1093/brain/awaf021
Published: 13 February 2025
Journal Article

A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity Get access

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Danique Beijer and others
Brain, Volume 148, Issue 1, January 2025, Pages 227–237, https://doi.org/10.1093/brain/awae206
Published: 28 June 2024
Journal Article

TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations Get access

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Gage P Kosmanopoulos and others
Brain, Volume 148, Issue 1, January 2025, Pages 238–251, https://doi.org/10.1093/brain/awae201
Published: 25 June 2024
Journal Article

RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity

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Reza Maroofian and others
Brain, Volume 147, Issue 7, July 2024, Pages 2334–2343, https://doi.org/10.1093/brain/awae091
Published: 25 March 2024
Journal Article
EDITOR'S CHOICE

Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease

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Christopher J Record and others
Brain, Volume 147, Issue 9, September 2024, Pages 3144–3156, https://doi.org/10.1093/brain/awae064
Published: 14 March 2024
Journal Article

Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

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Riccardo Currò and others
Brain, Volume 147, Issue 5, May 2024, Pages 1887–1898, https://doi.org/10.1093/brain/awad436
Published: 09 January 2024
Journal Article

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

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Annette Lischka and others
Brain, Volume 146, Issue 12, December 2023, Pages 4880–4890, https://doi.org/10.1093/brain/awad328
Published: 28 September 2023
Journal Article

Neuromuscular disease genetics in under-represented populations: increasing data diversity

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Lindsay A Wilson and others
Brain, Volume 146, Issue 12, December 2023, Pages 5098–5109, https://doi.org/10.1093/brain/awad254
Published: 30 July 2023
Journal Article

Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis

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Natalia Dominik and others
Brain, Volume 146, Issue 12, December 2023, Pages 5060–5069, https://doi.org/10.1093/brain/awad240
Published: 14 July 2023
Journal Article

Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1

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Menelaos Pipis and others
Brain, Volume 146, Issue 10, October 2023, Pages 4025–4032, https://doi.org/10.1093/brain/awad203
Published: 20 June 2023
Journal Article

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants

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Christopher J Record and others
Brain, Volume 146, Issue 10, October 2023, Pages 4336–4349, https://doi.org/10.1093/brain/awad187
Published: 07 June 2023
Journal Article

Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history

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Tyler Rehbein and others
Brain, Volume 146, Issue 9, September 2023, Pages 3826–3835, https://doi.org/10.1093/brain/awad095
Published: 22 March 2023
Journal Article

Motor neuron pathology in CANVAS due to RFC1 expansions

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Vincent Huin and others
Brain, Volume 145, Issue 6, June 2022, Pages 2121–2132, https://doi.org/10.1093/brain/awab449
Published: 20 December 2021
Journal Article

Erratum to: A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement

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Adriana P Rebelo and others
Brain, Volume 144, Issue 7, July 2021, Page e64, https://doi.org/10.1093/brain/awab181
Published: 25 May 2021
Journal Article

RFC1 expansions are a common cause of idiopathic sensory neuropathy

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Riccardo Currò and others
Brain, Volume 144, Issue 5, May 2021, Pages 1542–1550, https://doi.org/10.1093/brain/awab072
Published: 09 May 2021
Journal Article

A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement

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Adriana P Rebelo and others
Brain, Volume 144, Issue 4, April 2021, Pages 1197–1213, https://doi.org/10.1093/brain/awab019
Published: 23 April 2021
Journal Article

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

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Alistair T Pagnamenta and others
Brain, Volume 144, Issue 2, February 2021, Pages 584–600, https://doi.org/10.1093/brain/awaa420
Published: 18 January 2021
Journal Article

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

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Menelaos Pipis and others
Brain, Volume 143, Issue 12, December 2020, Pages 3589–3602, https://doi.org/10.1093/brain/awaa323
Published: 08 January 2021
Journal Article

A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families

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Carolin K Scriba and others
Brain, Volume 143, Issue 10, October 2020, Pages 2904–2910, https://doi.org/10.1093/brain/awaa263
Published: 25 October 2020
Journal Article

RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome

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Kishore R Kumar and others
Brain, Volume 143, Issue 10, October 2020, Page e82, https://doi.org/10.1093/brain/awaa244
Published: 19 September 2020