Respiratory muscle function in patients with nemaline myopathy-Reference-Cited by-同舟云学术

Respiratory muscle function in patients with nemaline myopathy

Published:2022-08 Issue:8 Volume:32 Page:654-663
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

van Kleef Esmee S.B.,van Doorn Jeroen L.M.,Gaytant Michael A.,de Weerd Willemien,Vosse Bettine A.H.,Wallgren-Pettersson Carina,van Engelen Baziel G.M.,Ottenheijm Coen A.C.,Voermans Nicol C.,Doorduin Jonne

Funder

Prinses Beatrix Spierfonds

Publisher

Elsevier BV

Subject

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

Reference57 articles.

1. Recent advances in nemaline myopathy;Laitila;Neuromuscul Disord,2021

2. Nemaline myopathies: a current view;Sewry;J Muscle Res Cell Motil,2019

3. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy;Yuen;J Clin Invest,2014

4. Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores;Sambuughin;Am J Hum Genet,2010

5. De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins;Hernandez-Lain;Eur J Med Genet,2011

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1. A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the Netherlands;Neuromuscular Disorders;2024-10

2. A Likely Pathogenic variant in the KBTBD13 Gene: A Case Series of Three Patients with Nemaline Myopathy Type 6;Journal of Neuromuscular Diseases;2024-09-04

3. Tirasemtiv enhances submaximal muscle tension in an Acta1:p.Asp286Gly mouse model of nemaline myopathy;Journal of General Physiology;2024-02-20

4. Respiratory function in LAMA2-related muscular dystrophy and SELENON-related congenital myopathy, a 1.5-year natural history study;European Journal of Paediatric Neurology;2024-01

5. A case of acute hypercapnic respiratory failure secondary to late onset nemaline rod myopathy: A multi-disciplinary approach;Respiratory Medicine Case Reports;2024