Literature DB >> 1975398

Secondary metabolic defects in spinal muscular atrophy type II.

J P Harpey, C Charpentier, M Paturneau-Jouas, F Renault, N Romero, M Fardeau.   

Abstract

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Year:  1990        PMID： 1975398     DOI： 10.1016/0140-6736(90)93426-p

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  6 in total

1.  High resolution respirometry of permeabilized skeletal muscle fibers in the diagnosis of neuromuscular disorders.

Authors:  W Sperl; D Skladal; E Gnaiger; M Wyss; U Mayr; J Hager; F N Gellerich
Journal:  Mol Cell Biochem       Date:  1997-09       Impact factor: 3.396

Review 2.  Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment.

Authors:  Dmitriy M Niyazov; Stephan G Kahler; Richard E Frye
Journal:  Mol Syndromol       Date:  2016-06-03

3.  Motor neuron mitochondrial dysfunction in spinal muscular atrophy.

Authors:  Nimrod Miller; Han Shi; Aaron S Zelikovich; Yong-Chao Ma
Journal:  Hum Mol Genet       Date:  2016-08-03       Impact factor: 6.150

4.  Low fat diets increase survival of a mouse model of spinal muscular atrophy.

Authors:  Marc-Olivier Deguise; Lucia Chehade; Alexandra Tierney; Ariane Beauvais; Rashmi Kothary
Journal:  Ann Clin Transl Neurol       Date:  2019-10-13       Impact factor: 4.511

Review 5.  Metabolic and Nutritional Issues Associated with Spinal Muscular Atrophy.

Authors:  Yang-Jean Li; Tai-Heng Chen; Yan-Zhang Wu; Yung-Hao Tseng
Journal:  Nutrients       Date:  2020-12-16       Impact factor: 5.717

6.  L-carnitine supplementation for muscle weakness and fatigue in children with neurofibromatosis type 1: A Phase 2a clinical trial.

Authors:  Emily R Vasiljevski; Joshua Burns; Paula Bray; Gabrielle Donlevy; Anita J Mudge; Kristi J Jones; Matthew A Summers; Andrew Biggin; Craig F Munns; Marnee J McKay; Jennifer N Baldwin; David G Little; Aaron Schindeler
Journal:  Am J Med Genet A       Date:  2021-06-21       Impact factor: 2.578
  6 in total

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