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NEUROMUSCULAR DISORDERS
Rivista
Codice:
E117280
ISSN:
0960-8966
Dati Generali
Dati Generali
Pubblicazioni (21)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
118th ENMC international workshop on advances in myotubular myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th workshop of the international consortium on myotubular myopathy)
Articolo
Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy
Articolo
Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family
Articolo
Co-segregation of LMNA and PMP22 gene mutations in the same family.
Articolo
Cognitive impairment in Duchenne muscular dystrophy
Articolo
Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements
Articolo
European Joint Programme on Rare Diseases workshop: LAMA2-muscular dystrophy: paving the road to therapy March 17–19, 2023, Barcelona, Spain
Articolo
Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2)
Articolo
Hereditary spastic paraplegia associated with peripheral neuropathy: a distinct clinical and genetic entity
Articolo
Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene
Articolo
Merosin deficient congenital muscular dystrophy type 1A: An international workshop on the road to therapy 15-17 November 2019, Maastricht, the Netherlands
Articolo
Myogenic stem cells from the bone marrow: a therapeutic alternative for muscular dystrophy?
Articolo
Normal sciatic nerve morphology and motor nerve conduction velocity in myotubularin deficient mice
Abstract
Outcome measures validation study for mesoangioblasts transplantation in children affected by Duchenne muscular dystrophy
Articolo
Prevalent cardiac phenotype resulting in heart transplantation in a novel LMNA gene duplication.
Articolo
Registries versus tertiary care centers: How do we measure standards of care in Duchenne muscular dystrophy
Articolo
Respiratory function in a large cohort of treatment-naïve adult spinal muscular atrophy patients: a cross-sectional study
Articolo
Restoring cell-basal lamina interaction to rescue tissue degeneration in congenital muscular dystrophy
Articolo
Secretion of toxic exosomes by muscle cells of ALS patients
Abstract
The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy
Articolo
Vocal cord paralysis in CharcotâMarieâTooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature
Articolo
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