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Neuromuscular Disorders : NMD|October 30, 2020
Electrophysiological study of neuromuscular junction in congenital myasthenic syndromes, congenital myopathies, and chronic progressive external ophthalmoplegiaVitor Marques Caldas, Carlos Otto Heise, João Aris Kouyoumdjian, et al.
Human Molecular Genetics|September 30, 2006
A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathyValérie Tosch, Holger M Rohde, Hélène Tronchère, et al.
Pediatric Neurology|August 8, 2017
Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the LiteratureCristiane de Araújo Martins Moreno, Osório Abath Neto, Sandra Donkervoort, et al.
Neuromuscular Disorders : NMD|March 18, 2017
Matching pairs difficulty in children with spinal muscular atrophy type IGraziela Jorge Polido, Alessandra Ferreira Barbosa, Carlos Hitoshi Morimoto, et al.
Neuromuscular Disorders : NMD|June 14, 2017
Clinical, histological and radiological responses to methylprednisolone in HIV-associated rod myopathyAndré M S Silva, Rodrigo H Mendonça, Cristiane A M Moreno, et al.
American Journal of Medical Genetics. Part A|February 26, 2026
Expanding the Phenotype of Biallelic PIGG Variants: Motor Neuropathy With Peripheral Nerve HyperexcitabilityPedro Henrique Marte de Arruda Sampaio, Cristiane Araujo Martins Moreno, Filipe di Pace, et al.
Biochimica Et Biophysica Acta|April 15, 2010
Muscle degeneration in neuraminidase 1-deficient mice results from infiltration of the muscle fibers by expanded connective tissueEdmar Zanoteli, Diantha van de Vlekkert, Erik J Bonten, et al.
Neuromuscular Disorders : NMD|April 7, 2021
Motor unit number index (MUNIX) in children and adults with 5q-spinal muscular atrophy: Variability and clinical correlationsRodrigo Holanda Mendonça, Ligia Maria Sotero Machado, Carlos Otto Heise, et al.
Current Eye Research|December 11, 2019
Bupivacaine Injection in the Extra Ocular Muscle of Rabbits: Analysis of Global and Orbital LayersLuisa Moreira Hopker, Marco Aurélio Senff de Moraes, Rodrigo Nitsch, et al.
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