Work

A ‘second truncation’ in TTN causes early onset recessive muscular dystrophy

Year: 2017

Type: article

Study design: Case Report

Source: Neuromuscular Disorders

DOI: 10.1016/j.nmd.2017.06.013

Authors: Elizabeth Harris, Ana Töpf, Anna Vihola, Anni Evilä, Rita Barresi, Judith Hudson, Peter Hackman, Brian Herron, Daniel MacArthur, Hanns Lochmüller, Kate Bushby, Bjarne Udd, Volker Straub

Institutions: Newcastle University, University of Helsinki, Newcastle upon Tyne Hospitals NHS Foundation Trust, Royal Victoria Hospital, Massachusetts General Hospital, Tampere University, Vaasa Central Hospital, Tampere University Hospital

Language: English

Topic: Muscle Physiology and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: Newcastle University, European Commission, Newcastle upon Tyne Hospitals NHS Foundation Trust, National Institutes of Health, Medical Research Council, National Human Genome Research Institute

Awards: G1609525565, RD-CONNECT: An integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research, G2973790809, G3207356259, G393177772, G4738044777, G5702163051, G7810338202, Integrated European –omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases, G9000022338, G9000062434

OpenAlex ID: W2703559770

FWCI: 0.894

Cites: 24

Cited by: 29

Related to: 10