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Authors: Wilson Marques
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Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD Open Access

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

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

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

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

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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 Open Access

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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

Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs Free

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Adriana P Rebelo and others
Brain, Volume 146, Issue 10, October 2023, Pages 4191–4199, https://doi.org/10.1093/brain/awad158
Published: 12 May 2023
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Primary neural leprosy: clinical, neurophysiological and pathological presentation and progression Free

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Pedro J Tomaselli and others
Brain, Volume 145, Issue 4, April 2022, Pages 1499–1506, https://doi.org/10.1093/brain/awab396
Published: 19 October 2021
Journal Article

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion Open Access

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Andrea Cortese and others
Brain, Volume 143, Issue 2, February 2020, Pages 480–490, https://doi.org/10.1093/brain/awz418
Published: 10 February 2020
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Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial Free

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Ludger Schöls and others
Brain, Volume 140, Issue 12, December 2017, Pages 3112–3127, https://doi.org/10.1093/brain/awx273
Published: 06 November 2017
Journal Article

PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum Get access

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Matthis Synofzik and others
Brain, Volume 137, Issue 1, January 2014, Pages 69–77, https://doi.org/10.1093/brain/awt326
Published: 18 December 2013