A new titinopathy-Reference-Cited by-同舟云学术

A new titinopathy

Published:2015-11-18 Issue:24 Volume:85 Page:2126-2135
ISSN:0028-3878
Container-title:Neurology
language:en
Short-container-title:Neurology

Author:

De Cid Rafael,Ben Yaou Rabah,Roudaut Carinne,Charton Karine,Baulande Sylvain,Leturcq France,Romero Norma Beatriz,Malfatti Edoardo,Beuvin Maud,Vihola Anna,Criqui Audrey,Nelson Isabelle,Nectoux Juliette,Ben Aim Laurène,Caloustian Christophe,Olaso Robert,Udd Bjarne,Bonne Gisèle,Eymard Bruno,Richard Isabelle

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Reference27 articles.

1. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

2. A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay

3. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

4. C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy

5. Secondary calpain3 deficiency in 2q-linked muscular dystrophy

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2. Muscle Diseases With Prominent Joint Contractures.;Reference Module in Neuroscience and Biobehavioral Psychology;2024

3. Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titin;WIREs Mechanisms of Disease;2023-12-29

4. Biallelic truncating TTN variants in M‐band encoding exons cause a fetal lethal titinopathy;Prenatal Diagnosis;2023-12-26

5. Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients;Frontiers in Cardiovascular Medicine;2023-07-27