HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes-Reference-Cited by-同舟云学术

HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes

Published:2019-07-02 Issue:10 Volume:266 Page:2524-2534
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Berardo Andrés,Lornage Xavière,Johari Mridul,Evangelista Teresinha,Cejas Claudia,Barroso Fabio,Dubrovsky Alberto,Bui Mai Thao,Brochier Guy,Saccoliti Maria,Bohm Johann,Udd Bjarne,Laporte Jocelyn,Romero Norma Beatriz,Taratuto Ana Lia

Funder

Association Française contre les Myopathies

Assistance Publique - Hôpitaux de Paris

AgenceNationale pour la Recherche

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-019-09437-3.pdf

Reference15 articles.

1. Straub V, Murphy A, Udd B, LGMD workshop study group (2018) 229th ENMC international workshop: Limb girdle muscular dystrophies—nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017. Neuromuscul Disord 28:702–710. https://doi.org/10.1016/j.nmd.2018.05.007

2. Starling A, Kok F, Passos-Bueno MR, Vainzof M, Zatz M (2004) A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21. Eur J Hum Genet. 12:1033–1040

3. Vieira NM, Naslavsky MS, Licinio L, Kok F, Schlesinger D, Vainzof M, Sanchez N, Kitajima JP, Gal L, Cavacana N, Serafini PR, Chuartzman S, Vasquez C, Mimbacas A, Nigro V, Pavanello RC, Schuldiner M, Kunkel LM, Zatz M (2014) A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). Hum Mol Genet 23:4103–4110. https://doi.org/10.1093/hmg/ddu127

4. Sun Y, Chen H, Lu Y, Duo J, Lei L, OuYang Y, Hao Y, Da Y, Shen X-M (2019) Limb girdle muscular dystrophy D3 HNRNPDL related in a Chinese family with distal muscle weakness caused by a mutation in the prion-like domain. J Neurol 266:498–506. https://doi.org/10.1007/s00415-018-9165-4

5. Li RZ, Hou J, Wei Y, Luo X, Ye Y, Zhang Y (2019) hnRNPDL extensively regulates transcription and alternative splicing. Gene 687:125–134. https://doi.org/10.1016/j.gene.2018.11.026

Cited by 21 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. MRI for the diagnosis of limb girdle muscular dystrophies;Current Opinion in Neurology;2024-08-12

2. Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations;Genome Medicine;2024-07-09

3. Dysregulated RNA editing of EIF2AK2 in polycystic ovary syndrome: clinical relevance and functional implications;BMC Medicine;2024-06-10

4. Limb-Girdle Muscular Dystrophy, Autosomal Dominant (LGMDD);Genetic Syndromes;2024

5. Heterogenous nuclear ribonucleoprotein D-like controls endothelial cell functions;Biological Chemistry;2023-11-10