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Clinical Genetics|July 17, 2024
Clinical and molecular characterization of limb-girdle muscular dystrophy 2G/R7 in a large cohort of Brazilian patientsTobias Gaviraghi, Eduardo B U Cavalcanti, Paulo José Lorenzoni, et al.
Neuromuscular Disorders : NMD|August 19, 2017
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patientsOsorio Abath Neto, Cristiane de Araújo Martins Moreno, Edoardo Malfatti, et al.
Brain Communications|July 9, 2021
International retrospective natural history study of <i>LMNA</i>-related congenital muscular dystrophyRabah Ben Yaou, Pomi Yun, Ivana Dabaj, et al.
Clinical Genetics|July 4, 2019
Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophyPablo B Winckler, André M S da Silva, Antônio R Coimbra-Neto, et al.
Neurology. Genetics|August 17, 2023
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem ProteinopathyMarianela Schiava, Chiseko Ikenaga, Ana Topf, et al.
Arquivos De Neuro-Psiquiatria|August 7, 2020
Neurological consultations and diagnoses in a large, dedicated COVID-19 university hospitalAdalberto Studart-Neto, Bruno Fukelmann Guedes, Raphael de Luca E Tuma, 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.
Clinical Genetics|May 9, 2026
Clinical Characterization of Patients With 5q Spinal Muscular Atrophy Types 2 and 3 in Brazil: A Cross-Sectional Observational StudyElice Carneiro Batista, Edmar Zanoteli, Henrique Andrade R Fonseca, et al.
Annals of Clinical and Translational Neurology|July 30, 2019
Clinical and molecular findings in a cohort of ANO5-related myopathyAndré M S Silva, Antônio R Coimbra-Neto, Paulo Victor S Souza, 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.
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