Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies-Reference-Cited by-同舟云学术

Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies

Published:2011-11 Issue:11 Volume:21 Page:782-790
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Vuillaumier-Barrot S.,Bouchet-Seraphin C.,Chelbi M.,Eude-Caye A.,Charluteau E.,Besson C.,Quentin S.,Devisme L.,Le Bizec C.,Landrieu P.,Goldenberg A.,Maincent K.,Loget P.,Boute O.,Gilbert-Dussardier B.,Encha-Razavi F.,Gonzales M.,Grandchamp B.,Seta N.

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference31 articles.

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3. Mutations in the O-Mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg Syndrome;Beltran-Valero De Bernabe;Am J Hum Genet,2002

4. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker Warburg syndrome;van Reeuwijk;J Med Genet,2005

5. New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation;Yanagisawa;Neurology,2007

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2. Dystroglycanopathies: Genetic Bases of Muscular Dystrophies Due to Alteration in the O-Glycosylation of α-Dystroglycan;Journal of Inborn Errors of Metabolism and Screening;2023

3. Keeping an eye on congenital disorders of O‐glycosylation: A systematic literature review;Journal of Inherited Metabolic Disease;2019-01

4. Neuronal migration in the CNS during development and disease: insights from in vivo and in vitro models;Development;2019-01-01

5. Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing;Scientific Reports;2017-08-01