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European Journal of Heart Failure|November 16, 2012
A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activityFelix W Friedrich, Gilles Dilanian, Patricia Khattar, et al.
Orphanet Journal of Rare Diseases|July 7, 2026
Elamipretide in pediatric Barth syndrome: from heart failure to school returnPascal Amedro, Mathieu Andrianoely, Pauline Gohier, et al.
Neuromuscular Disorders : NMD|September 18, 2007
Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathiesHiroshi Manya, Céline Bouchet, Akiko Yanagisawa, et al.
Acta Neuropathologica|January 20, 2009
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical studyKristl G Claeys, Peter F M van der Ven, Anthony Behin, et al.
Neuromuscular Disorders : NMD|August 9, 2005
Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centersMariz Vainzof, Pascale Richard, Ralf Herrmann, et al.
American Journal of Human Genetics|August 23, 2002
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathiesAna Ferreiro, Susana Quijano-Roy, Claire Pichereau, et al.
Neuromuscular Disorders : NMD|April 15, 2009
Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementiaTanya Stojkovic, El Hadi Hammouda, Pascale Richard, et al.
Basic Research in Cardiology|November 1, 2014
FHL2 expression and variants in hypertrophic cardiomyopathyFelix W Friedrich, Silke Reischmann, Aileen Schwalm, et al.
Cells|April 5, 2020
Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical PracticeHéléna Mosbah, Camille Vatier, Franck Boccara, et al.
Neuromuscular Disorders : NMD|July 30, 2014
Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutationAnamaria Bolocan, Susana Quijano-Roy, Andreea M Seferian, et al.
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