Literature DB >> 16434679

Gentamicin treatment in McArdle disease: failure to correct myophosphorylase deficiency.

A Schroers1, R A Kley, A Stachon, R Horvath, H Lochmüller, J Zange, M Vorgerd.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2006        PMID： 16434679     DOI： 10.1212/01.wnl.0000194212.31318.fc

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


× No keyword cloud information.
  15 in total

Review 1.  Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V).

Authors:  Rosaline Quinlivan; Andrea Martinuzzi; Benedikt Schoser
Journal:  Cochrane Database Syst Rev       Date:  2014-11-12

Review 2.  McArdle disease: a unique study model in sports medicine.

Authors:  Alfredo Santalla; Gisela Nogales-Gadea; Niels Ørtenblad; Astrid Brull; Noemi de Luna; Tomàs Pinós; Alejandro Lucia
Journal:  Sports Med       Date:  2014-11       Impact factor: 11.136

3.  The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications.

Authors:  Gisela Nogales-Gadea; Alfredo Santalla; Astrid Brull; Noemi de Luna; Alejandro Lucia; Tomàs Pinós
Journal:  J Inherit Metab Dis       Date:  2014-07-23       Impact factor: 4.982

Review 4.  Treatment Opportunities in Patients With Metabolic Myopathies.

Authors:  Mette Cathrine Ørngreen; John Vissing
Journal:  Curr Treat Options Neurol       Date:  2017-09-21       Impact factor: 3.598

5.  Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations.

Authors:  Patricia K Dranchak; Erminia Di Pietro; Ann Snowden; Nathan Oesch; Nancy E Braverman; Steven J Steinberg; Joseph G Hacia
Journal:  J Cell Biochem       Date:  2011-05       Impact factor: 4.429

Review 6.  Therapeutics based on stop codon readthrough.

Authors:  Kim M Keeling; Xiaojiao Xue; Gwen Gunn; David M Bedwell
Journal:  Annu Rev Genomics Hum Genet       Date:  2014-04-18       Impact factor: 8.929

Review 7.  Lafora disease - from pathogenesis to treatment strategies.

Authors:  Felix Nitschke; Saija J Ahonen; Silvia Nitschke; Sharmistha Mitra; Berge A Minassian
Journal:  Nat Rev Neurol       Date:  2018-10       Impact factor: 42.937

8.  Clinical utility gene card for McArdle disease.

Authors:  Rhonda L Taylor; Mark Davis; Emma Turner; Astrid Brull; Tomás Pinos; Macarena Cabrera; Kristen J Nowak
Journal:  Eur J Hum Genet       Date:  2018-01-25       Impact factor: 4.246

Review 9.  Therapeutic options in other metabolic myopathies.

Authors:  Matthias Vorgerd
Journal:  Neurotherapeutics       Date:  2008-10       Impact factor: 7.620

10.  Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.

Authors:  A Manta; S Spendiff; H Lochmüller; R Thompson
Journal:  J Neuromuscul Dis       Date:  2021
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.