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List of works by Susana Quijano-Roy

Are respiratory muscle testing helpful to prompt sleep studies in children with neuromuscular disease?

scientific article

C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy

scientific article published in April 2007

Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.

scientific article published on 28 June 2014

EMG and nerve conduction studies in children with congenital muscular dystrophy

scientific article published on 01 February 2004

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

scientific article published on 12 March 2010

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 myopathies

scientific article

Phenotypic spectrum associated with mutations in the fukutin-related protein gene

scientific article published in April 2003

Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency

scientific article published in June 2002

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