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NEUROMUSCULAR DISORDERS
Rivista
Codice:
E117280
ISSN:
0960-8966
Dati Generali
Dati Generali
Pubblicazioni (13)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network
Articolo
A mobile app for patients with Pompe disease and its possible clinical applications
Articolo
A new mutation in the mitochondrial tRNAAla gene in a patient with ophthalmoplegia and dysphagia
Articolo
An "inflammatory" mitochondrial myopathy. A case report
Articolo
Autosomal recessive Bethlem myopathy: A clinical, genetic and functional study
Articolo
Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript
Articolo
DISCORDANT CLINICAL OUTCOME IN MYOTONIC DYSTROPHY RELATIVES SHOWING (CTG)n>700 REPEATS.
Articolo
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
Articolo
Novel mitochondrial tRNALeu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype
Articolo
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
Articolo
Respiratory function in a large cohort of treatment-naïve adult spinal muscular atrophy patients: a cross-sectional study
Articolo
No Results Found
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