Neuromuscular disorders : NMD - JoVE Visualize

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Neuromuscular Disorders : NMD|June 2, 2015

X-linked spinal muscular atrophy (SMAX2) caused by de novo c.1731C>T substitution in the UBA1 geneMaria Jędrzejowska, Elżbieta Jakubowska-Pietkiewicz, Anna Kostera-Pruszczyk

Neuromuscular Disorders : NMD|February 13, 2023

Respiratory function and sleep in children with myotonic dystrophy type 1Marie Cheminelle, Marie-Christine Nougues, Arnaud Isapof, et al.

Neuromuscular Disorders : NMD|July 10, 1999

Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patientsM Gennarelli, M Pavoni, P Amicucci, et al.

Neuromuscular Disorders : NMD|July 10, 1999

Undetectable dystrophin can still result in a relatively benign phenotype of dystrophinopathyN Hattori, M Kaido, T Nishigaki, et al.

Neuromuscular Disorders : NMD|July 10, 1999

Germline mosaicism of MPZ gene in Dejerine-Sottas syndrome (HMSN III) associated with hereditary stomatocytosisH Takashima, M Nakagawa, A Kanzaki, et al.

Neuromuscular Disorders : NMD|July 10, 1999

Immunolocalization of tumor necrosis factor-alpha and its receptors in inflammatory myopathiesJ L De Bleecker, V I Meire, W Declercq, et al.

Neuromuscular Disorders : NMD|July 10, 1999

A protein truncation test for Emery-Dreifuss muscular dystrophy (EMD): detection of N-terminal truncating mutationsP A de Koning Gans, I Ginjaar, E Bakker, et al.

Neuromuscular Disorders : NMD|July 10, 1999

Congenital muscular dystrophy with central and peripheral nervous system involvement in a Belgian patientM C Belpaire-Dethiou, K Saito, Y Fukuyama, et al.

Neuromuscular Disorders : NMD|July 10, 1999

Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22A Simonati, G M Fabrizi, A Pasquinelli, et al.

Neuromuscular Disorders : NMD|July 17, 1999

A second locus for autosomal dominant myopathy with proximal muscle weakness and early respiratory muscle involvement: a likely chromosomal locus on 2q21F Xiang, P Nicolao, F Chapon, et al.

Pageof 341

Showing results (1921-1930 of 3,403) with videos related to

Sort By:

Pageof 341

Neuromuscular Disorders : NMD|June 2, 2015

X-linked spinal muscular atrophy (SMAX2) caused by de novo c.1731C>T substitution in the UBA1 geneMaria Jędrzejowska, Elżbieta Jakubowska-Pietkiewicz, Anna Kostera-Pruszczyk

Neuromuscular Disorders : NMD|February 13, 2023

Respiratory function and sleep in children with myotonic dystrophy type 1Marie Cheminelle, Marie-Christine Nougues, Arnaud Isapof, et al.

Neuromuscular Disorders : NMD|July 10, 1999

Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patientsM Gennarelli, M Pavoni, P Amicucci, et al.

Neuromuscular Disorders : NMD|July 10, 1999

Undetectable dystrophin can still result in a relatively benign phenotype of dystrophinopathyN Hattori, M Kaido, T Nishigaki, et al.

Neuromuscular Disorders : NMD|July 10, 1999

Germline mosaicism of MPZ gene in Dejerine-Sottas syndrome (HMSN III) associated with hereditary stomatocytosisH Takashima, M Nakagawa, A Kanzaki, et al.

Neuromuscular Disorders : NMD|July 10, 1999

Immunolocalization of tumor necrosis factor-alpha and its receptors in inflammatory myopathiesJ L De Bleecker, V I Meire, W Declercq, et al.

Neuromuscular Disorders : NMD|July 10, 1999

A protein truncation test for Emery-Dreifuss muscular dystrophy (EMD): detection of N-terminal truncating mutationsP A de Koning Gans, I Ginjaar, E Bakker, et al.

Neuromuscular Disorders : NMD|July 10, 1999

Congenital muscular dystrophy with central and peripheral nervous system involvement in a Belgian patientM C Belpaire-Dethiou, K Saito, Y Fukuyama, et al.

Neuromuscular Disorders : NMD|July 10, 1999

Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22A Simonati, G M Fabrizi, A Pasquinelli, et al.

Neuromuscular Disorders : NMD|July 17, 1999

A second locus for autosomal dominant myopathy with proximal muscle weakness and early respiratory muscle involvement: a likely chromosomal locus on 2q21F Xiang, P Nicolao, F Chapon, et al.

Pageof 341