Next generation sequencing detection of late onset pompe disease-Reference-Cited by-同舟云学术

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Next generation sequencing detection of late onset pompe disease

Published:2016-04-25 Issue:6 Volume:53 Page:981-983
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Angelini Corrado¹,Savarese Marco²³,Fanin Marina⁴,Nigro Vincenzo²³

Affiliation:

1. Neuromuscular Center, Fondazione San Camillo Hospital IRCCS; via Alberoni 70 30124 Lido Venice Italy

2. Department of Biochemistry, Biophysics and General Pathology; II University of Naples

3. Telethon Institute of Genetics and Medicine; Naples

4. Department of Neurosciences; University of Padova; Italy

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Neurology (clinical),Physiology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mus.25042/fullpdf

Reference16 articles.

1. Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation;Laforet;Neurology,2000

2. A randomized study of alglucosidase alfa in late-onset Pompe's disease;Ploeg;N Engl J Med,2010

3. Genetic basis of limb-girdle muscular dystrophies: the 2014 update;Nigro;Acta Myol,2014

4. MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples;Savarese;Acta Neuropathol Commun,2014

5. Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T>G) mutation in a majority of patients and a novel IVS10 (+1GT>CT) mutation;Huie;Hum Mol Genet,1994

Cited by 12 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Evaluating avalglucosidase alfa for the management of late-onset Pompe disease;Expert Review of Neurotherapeutics;2024-01-23

2. Next-Generation Sequencing Technologies and Neurogenetic Diseases;Life;2021-04-19

3. Pompe disease: pathogenesis, molecular genetics and diagnosis;Aging;2020-08-03

4. Molecular Characterization of a Novel Splicing Mutation Underlying Mucopolysaccharidosis (MPS) Type VI—Indirect Proof of Principle on Its Pathogenicity;Diagnostics;2020-01-21

5. The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease;Orphanet Journal of Rare Diseases;2020-01-13

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