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NEUROMUSCULAR DISORDERS
Journal
Identifier:
E117280
ISSN:
0960-8966
Overview
Overview
Outputs (14)
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"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network
Academic Article
A mobile app for patients with Pompe disease and its possible clinical applications
Academic Article
A new mutation in the mitochondrial tRNAAla gene in a patient with ophthalmoplegia and dysphagia
Academic Article
An "inflammatory" mitochondrial myopathy. A case report
Academic Article
Autosomal recessive Bethlem myopathy: A clinical, genetic and functional study
Academic Article
Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript
Academic Article
Bridging past and future: the evolution of genetic diagnosis in FSHD and the role of emerging technologies in a globalized framework
Academic Article
DISCORDANT CLINICAL OUTCOME IN MYOTONIC DYSTROPHY RELATIVES SHOWING (CTG)n>700 REPEATS.
Academic Article
Importance of self-report in pediatric quality of life assessment: Experience with the SOLE questionnaire in children with neuromuscular disorders
Abstract
Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients
Academic Article
Novel mitochondrial tRNALeu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype
Academic Article
Quantitative ultrasound measurements of bone density DMD and SMA patients
Abstract
Reduction of the DM-Associated Homeo Domain Protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients
Academic Article
Respiratory function in a large cohort of treatment-naïve adult spinal muscular atrophy patients: a cross-sectional study
Academic Article
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