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Wilson Marques

Showing results (181-190 of 197) with videos related to

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Journal of Neurology, Neurosurgery, and Psychiatry|January 7, 2026
Spectrum of dominant Charcot-Marie-Tooth disease due to <i>SLC12A6</i> variantsChristopher J Record, Tiffany Grider, Adriana P Rebelo, et al.
Brain : a Journal of Neurology|July 14, 2023
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosisNatalia Dominik, Stefania Magri, Riccardo Currò, et al.
Cerebellum (London, England)|July 7, 2022
An Exploratory Survey on the Care for Ataxic Patients in the American Continents and the CaribbeanLaura Bannach Jardim, Ali Hasan, Sheng-Han Kuo, et al.
Brain : a Journal of Neurology|February 11, 2020
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansionAndrea Cortese, Stefano Tozza, Wai Yan Yau, et al.
Experimental Neurology|October 2, 2024
The GENESIS database and tools: A decade of discovery in Mendelian genomicsMatt C Danzi, Eric Powell, Adriana P Rebelo, et al.
American Journal of Human Genetics|January 3, 2025
EEFSEC deficiency: A selenopathy with early-onset neurodegenerationLucia Laugwitz, Rebecca Buchert, Patricio Olguín, et al.
Scientific Reports|March 16, 2025
Clinical and molecular spectrum of TK2-deficiency: a large Brazilian cohortCristiane Araujo Martins Moreno, Mariana Cunha Artilheiro, Alulin Tacio Quadros Santos Monteiro Fonseca, et al.
Neurology|November 4, 2020
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on <i>MME</i>Jan Senderek, Petra Lassuthova, Dagmara Kabzińska, et al.
Brain : a Journal of Neurology|January 9, 2024
Role of the repeat expansion size in predicting age of onset and severity in RFC1 diseaseRiccardo Currò, Natalia Dominik, Stefano Facchini, et al.
Neurology. Genetics|October 16, 2020
Intragenic variants in the <i>SMN1</i> gene determine the clinical phenotype in 5q spinal muscular atrophyRodrigo de Holanda Mendonça, Ciro Matsui, Graziela Jorge Polido, et al.
Pageof 20

Showing results (181-190 of 197) with videos related to

Sort By:
Pageof 20
Journal of Neurology, Neurosurgery, and Psychiatry|January 7, 2026
Spectrum of dominant Charcot-Marie-Tooth disease due to <i>SLC12A6</i> variantsChristopher J Record, Tiffany Grider, Adriana P Rebelo, et al.
Brain : a Journal of Neurology|July 14, 2023
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosisNatalia Dominik, Stefania Magri, Riccardo Currò, et al.
Cerebellum (London, England)|July 7, 2022
An Exploratory Survey on the Care for Ataxic Patients in the American Continents and the CaribbeanLaura Bannach Jardim, Ali Hasan, Sheng-Han Kuo, et al.
Brain : a Journal of Neurology|February 11, 2020
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansionAndrea Cortese, Stefano Tozza, Wai Yan Yau, et al.
Experimental Neurology|October 2, 2024
The GENESIS database and tools: A decade of discovery in Mendelian genomicsMatt C Danzi, Eric Powell, Adriana P Rebelo, et al.
American Journal of Human Genetics|January 3, 2025
EEFSEC deficiency: A selenopathy with early-onset neurodegenerationLucia Laugwitz, Rebecca Buchert, Patricio Olguín, et al.
Scientific Reports|March 16, 2025
Clinical and molecular spectrum of TK2-deficiency: a large Brazilian cohortCristiane Araujo Martins Moreno, Mariana Cunha Artilheiro, Alulin Tacio Quadros Santos Monteiro Fonseca, et al.
Neurology|November 4, 2020
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on <i>MME</i>Jan Senderek, Petra Lassuthova, Dagmara Kabzińska, et al.
Brain : a Journal of Neurology|January 9, 2024
Role of the repeat expansion size in predicting age of onset and severity in RFC1 diseaseRiccardo Currò, Natalia Dominik, Stefano Facchini, et al.
Neurology. Genetics|October 16, 2020
Intragenic variants in the <i>SMN1</i> gene determine the clinical phenotype in 5q spinal muscular atrophyRodrigo de Holanda Mendonça, Ciro Matsui, Graziela Jorge Polido, et al.
Pageof 20