219th ENMC International Workshop Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April–1 May 2016-Reference-Cited by-同舟云学术

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219th ENMC International Workshop Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April–1 May 2016

Published:2017-04 Issue:4 Volume:27 Page:396-407
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Hackman Peter,Udd Bjarne,Bönnemann Carsten G.,Ferreiro Ana,Udd Bjarne,Hackman Peter,Ferreiro Ana,Bonnemann Carsten,Beggs Alan,Gautel Mathias,Davis Mark,Evangelista Teresinha,Savarese Marco,Glumac Jelena Nikodinovic,Laporte Jocelyn,Smith John Edward,Richard Isabelle,Granzier Henk,Schneider Raphäel,Jungbluth Heinz,Foye Sarah,Frase Alison Rockett

Funder

European Neuromuscular Centre

Association Française contre les Myopathies

Deutsche Gesellshaft für Muskelkranke

Muscular Dystrophy UK

Prinses Beatrix Spierfonds

Muskelsvindfonden

Schweizerische Stiftung für die Erforschung der Muskelkrankheiten

Telethon Foundation

Spierziekten Nederland

Finnish Neuromuscular Association

CureCMD

Joshua Frase Foundation

Publisher

Elsevier BV

Subject

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

Reference50 articles.

1. Increasing role of titin mutations in neuromuscular disorders;Savarese;J Neuromuscul Dis,2016

2. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy;Ceyhan-Birsoy;Neurology,2013

3. Recessive TTN truncating mutations define novel forms of core myopathy with heart disease;Chauveau;Hum Mol Genet,2014

4. Targeted next-generation sequencing reveals novel TTN mutations causing recessive distal titinopathy;Evila;Mol Neurobiol,2016

5. A new titinopathy: childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy;De Cid;Neurology,2015

Cited by 28 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. Distal Muscular Dystrophies;Current Clinical Neurology;2023

2. Clinical and molecular genetic analysis of early-onset myopathy with fatal cardiomyopathy: Novel biallelic M-line TTN mutation and review of the literature;Gene Reports;2022-06

3. Heterozygous missense variant in the TTN gene causing Tibial muscular dystrophy;Egyptian Journal of Medical Human Genetics;2022-03-14

4. Novel compound heterozygous mutations in the TTN gene: elongation and truncation variants causing limb-girdle muscular dystrophy type 2J in a Han Chinese family;Neurological Sciences;2022-03-03

5. In Vitro Fertilization Using Preimplantation Genetic Testing in a Romanian Couple Carrier of Mutations in the TTN Gene: A Case Report and Literature Review;Diagnostics;2021-12-10

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