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Neuromuscular Disorders

Resumen/Descripción – provisto por la editorial en inglés

This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies).

Palabras clave – provistas por la editorial

No disponibles.

Disponibilidad

Institución detectada	Período	Navegá	Descargá	Solicitá
No detectada	desde ene. 1991 / hasta dic. 1994	ScienceDirect

Información

Tipo de recurso:

revistas

ISSN impreso

0960-8966

ISSN electrónico

1873-2364

Editor responsable

Elsevier

País de edición

Países Bajos

Fecha de publicación

1991-

Cobertura temática

medicina-clinica

Medicina clínica

Tabla de contenidos

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doi: 10.1016/j.nmd.2008.11.016

Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient

Alberto Blázquez; Mari Carmen Gil-Borlado; María Morán; Alfonso Verdú; María Rosario Cazorla-Calleja; Miguel A. Martín; Joaquín Arenas; Cristina Ugalde

Palabras clave: Genetics (clinical); Neurology (clinical); Neurology; Pediatrics, Perinatology and Child Health.

Pp. 143-146

doi: 10.1016/j.nmd.2015.01.003

Progression and variation of fatty infiltration of the thigh muscles in Duchenne muscular dystrophy, a muscle magnetic resonance imaging study

Wenzhu Li; Yiming Zheng; Wei Zhang; Zhaoxia Wang; Jiangxi Xiao; Yun Yuan

Palabras clave: Genetics (clinical); Neurology (clinical); Neurology; Pediatrics, Perinatology and Child Health.

Pp. 375-380

doi: 10.1016/j.nmd.2016.09.002

Muscle MRI in Duchenne muscular dystrophy: Evidence of a distinctive pattern

Kiran Polavarapu; Mahadevappa Manjunath; Veeramani Preethish-Kumar; Deepha Sekar; Seena Vengalil; PriyaTreesa Thomas; Talakad N. Sathyaprabha; Rose Dawn Bharath; Atchayaram Nalini

Palabras clave: Genetics (clinical); Neurology (clinical); Neurology; Pediatrics, Perinatology and Child Health.

Pp. 768-774

doi: 10.1016/j.nmd.2021.11.013

The functional and structural evaluation of small fibers in asymptomatic carriers of p.Val50Met (Val30Met) mutation

Can Ebru Bekircan-Kurt; Ezgi Yilmaz; Doruk Arslan; Fatma Gokcem Yildiz; Özlem Dikmetas; Zeynep Ergul-Ulger; Sibel Kocabeyoglu; Murat Irkec; Vedat Hekimsoy; Lale Tokgozoglu; Ersin Tan; Sevim Erdem-Ozdamar

Palabras clave: Genetics (clinical); Neurology (clinical); Neurology; Pediatrics, Perinatology and Child Health.

Pp. No disponible

doi: 10.1016/j.nmd.2022.01.005

Hypotonic infant with PURA syndrome-related channelopathy successfully treated with pyridostigmine

Rita Wyrebek; Mara DiBartolomeo; Sandra Brooks; Thomas Geller; Melissa Crenshaw; Stanley Iyadurai

Palabras clave: Genetics (clinical); Neurology (clinical); Neurology; Pediatrics, Perinatology and Child Health.

Pp. 166-169

doi: 10.1016/j.nmd.2022.05.013

Rituximab in chronic immune mediated neuropathies: a systematic review

Sai Chaganti; Andrew Hannaford; Steve Vucic

Palabras clave: Genetics (clinical); Neurology (clinical); Neurology; Pediatrics, Perinatology and Child Health.

Pp. No disponible

doi: 10.1016/j.nmd.2022.10.006

Highly asymmetrical distribution of muscle wasting correlates to the heteroplasmy in a patient carrying a large-scale mitochondrial DNA deletion: a novel pathophysiological mechanism for explaining asymmetry in mitochondrial myopathies

M. Masingue; B. Rucheton; C. Bris; N.B. Romero; V. Procaccio; B Eymard

Palabras clave: Genetics (clinical); Neurology (clinical); Neurology; Pediatrics, Perinatology and Child Health.

Pp. 923-930

doi: 10.1016/j.nmd.2022.12.002

The 2023 version of the gene table of neuromuscular disorders (nuclear genome)

Louise Benarroch; Gisèle Bonne; François Rivier; Dalil Hamroun

Palabras clave: Genetics (clinical); Neurology (clinical); Neurology; Pediatrics, Perinatology and Child Health.

Pp. 76-117

doi: 10.1016/j.nmd.2023.01.004

Immune-mediated rippling muscle disease: not your usual muscle twitches and ache

Michael P. Skolka; Pannathat Soontrapa; Divyanshu Dubey; William J. Litchy; Mohamed M. Rezk; Stephanie Gardon; Teerin Liewluck

Palabras clave: Genetics (clinical); Neurology (clinical); Neurology; Pediatrics, Perinatology and Child Health.

Pp. 239-240

doi: 10.1016/j.nmd.2023.10.003

269th ENMC international workshop: 10 years of clinical trials in Duchenne muscular dystrophy – What have we learned? 9–11 December 2022, Hoofddorp, The Netherlands

Karin J. Naarding; Georgia Stimpson; Susan J. Ward; Nathalie Goemans; Craig McDonald; Eugenio Mercuri; Francesco Muntoni

Palabras clave: Genetics (clinical); Neurology (clinical); Neurology; Pediatrics, Perinatology and Child Health.

Pp. 897-910