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

Neuromuscular Disorders

Volumn 27, Issue 4, 2017, Pages 396-407

  Hackman, Peter ^b,o   Udd, Bjarne ^a   Bönnemann, Carsten G ^d   Ferreiro, Ana ^c,p   Bonnemann, Carsten ^d   Beggs, Alan ^e   Gautel, Mathias ^f   Davis, Mark ^g   Evangelista, Teresinha ^h   Savarese, Marco ^b   Glumac, Jelena Nikodinovic ⁱ   Laporte, Jocelyn ^j   Smith, John Edward ^k   Richard, Isabelle ^l   Granzier, Henk ^k   Schneider, Raphäel ^j   Jungbluth, Heinz ^f   Foye, Sarah ^m   Frase, Alison Rockett ⁿ  

^a TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^b FOLKHÄLSAN RESEARCH CENTER   (Finland)

^c Groupe Hospitalier Pitié Salpêtrière   (France)

^d NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^e BOSTON CHILDREN S HOSPITAL   (United States)

^f KING'S COLLEGE LONDON   (United Kingdom)

^g PatheWest Laboratory   (Australia)

^h NEWCASTLE UNIVERSITY   (United Kingdom)

ⁱ Clinic for Neurology and Psychiatry for Children and Youth   (Serbia)

^j INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^k UNIVERSITY OF ARIZONA   (United States)

^l GÉNÉTHON   (France)

^m Titin family representative   (United States)

ⁿ Joshua Frase Foundation   (United States)

^o UNIVERSITY OF HELSINKI   (Finland)

^p PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CONNECTIN;

219TH EUROPEAN NEUROMUSCULAR CENTER WORKSHOP; CONFERENCE PAPER; DISEASE ACTIVITY; DISEASE ASSOCIATION; FACTUAL DATABASE; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HEALTH CARE ORGANIZATION; HUMAN; MOLECULAR PATHOLOGY; MUSCULAR DYSTROPHY; PHENOTYPE; PROTEIN DETERMINATION; PROTEIN FUNCTION; TITIN GENE; TITINOPATHY; GENETICS; INTERNATIONAL COOPERATION; MUSCLE DISEASE; MUTATION; NETHERLANDS; ORGANIZATION;

CONGRESSES AS TOPIC; CONNECTIN; HUMANS; INTERNATIONAL COOPERATION; MUSCULAR DISEASES; MUTATION; NETHERLANDS;

EID: 85012862769     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2017.01.009     Document Type: Conference Paper

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