Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies-Reference-Cited by-同舟云学术

Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies

Published:2015-01 Issue:1 Volume:25 Page:43-54
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Meilleur Katherine G.,Jain Minal S.,Hynan Linda S.,Shieh Ching-Yi,Kim Eunice,Waite Melissa,McGuire Michelle,Fiorini Courtney,Glanzman Allan M.,Main Marion,Rose Kristy,Duong Tina,Bendixen Roxanna,Linton Melody M.,Arveson Irene C.,Nichols Carmel,Yang Kelly,Fischbeck Kenneth H.,Wagner Kathryn R.,North Kathryn,Mankodi Ami,Grunseich Christopher,Hartnett Elizabeth J.,Smith Michaele,Donkervoort Sandra,Schindler Alice,Kokkinis Angela,Leach Meganne,Foley A. Reghan,Collins James,Muntoni Francesco,Rutkowski Anne,Bönnemann Carsten G.

Funder

Cure CMD

NIH

Publisher

Elsevier BV

Subject

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

Reference39 articles.

1. Congenital muscular dystrophies: new aspects of an expanding group of disorders;Lisi;Biochim Biophys Acta,2007

2. The collagen VI-related myopathies: muscle meets its matrix;Bönnemann;Nat Rev Neurol,2011

3. CMD outcomes consortium. 173rd ENMC international workshop: congenital muscular dystrophy outcome measures 5–7 March 2010, Naarden, The Netherlands;Bönnemann;Neuromuscul Disord,2011

4. Natural history of Ullrich congenital muscular dystrophy;Nadeau;Neurology,2009

5. Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures;Jöbsis;Brain,1999

Cited by 37 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. Cross-sectional survey study of the natural history of LAMA2-related dystrophy;Clinical Neurology and Neurosurgery;2024-10

2. A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy;Journal of Neuromuscular Diseases;2024-09-03

3. Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy;Neurology Genetics;2024-06

4. Genetic profile of Brazilian patients with LAMA2‐related dystrophies;Clinical Genetics;2024-05-15

5. The recurrent deep intronic pseudoexon-inducing variantCOL6A1c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy;2024-03-29