Life-threatening muscle complications of COL4A1-related disorder-Reference-Cited by-同舟云学术

Life-threatening muscle complications of COL4A1-related disorder

Published:2020-01 Issue:1 Volume:42 Page:93-97
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Okano Satomi,Shimada Sorachi,Tanaka Ryosuke,Okayama Akie,Kajihama Aya,Suzuki Nao,Nakau Koichi,Takahashi Satoru,Matsumoto Naomichi,Saitsu Hirotomo,Tanboon Jantima,Nishino Ichizo,Azuma Hiroshi

Funder

Intramural Research Grant

Neurological and Psychiatric Disorders

AMED

JSPS KAKENHI

Takeda Science Foundation

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference15 articles.

1. HANAC Col4a1 mutation in mice leads to skeletal muscle alterations due to primary vascular defect;Guiraud;Am J Pathol,2017

2. The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature;Meuwissen;Genet Med,2015

3. COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps;Plaisier;N Engl J Med,2007

4. Walker-Warburg syndrome: neurologic features and muscle membrane structure;Kanoff;Pediatr Neurol,1998

5. Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly;Yoneda;Ann Neurol,2013

Cited by 4 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. Investigating age-related differences in muscles of Kazakh horse through transcriptome analysis;Gene;2024-08

2. Aberrant expression of COL4A1 in age-related cataract and its effect on cell proliferation, apoptosis and gene expression changes;International Journal of Ophthalmology;2023-03-18

3. The role of basement membranes in cardiac biology and disease;Bioscience Reports;2021-08

4. Edge-to-edge repair of the systolic anterior motion of mitral valve and cardiac myectomy of the abnormally positioned papillary muscles in an infant with COL4A1 mutation;Journal of Surgical Case Reports;2021-06-01