Genotype–phenotype correlations in recessive titinopathies-Reference-Cited by-同舟云学术

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Genotype–phenotype correlations in recessive titinopathies

Published:2020-12 Issue:12 Volume:22 Page:2029-2040
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Savarese Marco^ORCID,Vihola Anna,Oates Emily C.,Barresi Rita,Fiorillo Chiara,Tasca Giorgio,Jokela Manu,Sarkozy Anna,Luo Sushan,Díaz-Manera Jordi,Ehrstedt Christoffer,Rojas-García Ricardo,Sáenz Amets,Muelas Nuria,Lonardo Fortunato,Fodstad Heidi,Qureshi Talha,Johari Mridul,Välipakka Salla,Luque Helena,Petiot Philippe,de Munain Adolfo López,Pane Marika,Mercuri Eugenio,Torella Annalaura,Nigro Vincenzo,Astrea Guja,Santorelli Filippo Maria,Bruno Claudio,Kuntzer Thierry,Illa Isabel,Vílchez Juan J.,Julien Cedric,Ferreiro Ana,Malandrini Alessandro,Zhao Chong-Bo,Casar-Borota Olivera,Davis Mark,Muntoni Francesco,Hackman Peter,Udd Bjarne

Funder

Päivikki ja Sakari Sohlbergin Säätiö

Biomedicum Helsinki-säätiö

Magnus Ehrnroothin Säätiö

Jane ja Aatos Erkon Säätiö

Medicinska Understödsföreningen Liv och Hälsa

Samfundet Folkhälsan

Sigrid Juséliuksen Säätiö

Paulon Säätiö

Academy of Finland

Alfred Kordelinin Säätiö

AFM-Téléthon

Seventh Framework Programme

Muscular Dystrophy UK

Fundación Isabel Gemio

Generalitat Valenciana

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

https://www.nature.com/articles/s41436-020-0914-2.pdf

Reference40 articles.

Cited by 40 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. A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family;Neurology Genetics;2024-10

2. Inferring disease course from differential exon usage in the wide titinopathy spectrum;Annals of Clinical and Translational Neurology;2024-08-28

3. Identification of four TTN variants in three families with fetal akinesia deformation sequence;BMC Medical Genomics;2024-06-27

4. TTN novel splice variant in familial dilated cardiomyopathy and splice variants review: a case report;Frontiers in Cardiovascular Medicine;2024-06-13

5. Allelic heterogeneity of TTNtv dilated cardiomyopathy can be modeled in adult zebrafish;JCI Insight;2024-04-08

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