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Pubblicazioni

NEUROMUSCULAR DISORDERS

Rivista

Codice:

E117280

ISSN:

0960-8966

Dati Generali

Dati Generali

Pubblicazioni (26)

Ordina Pubblicazioni:

ascendente
decrescente

216PGenetic ablation of Cdkn1a ameliorates facioscapulohumeral muscular dystrophy in mice overexpressing FRG1

Abstract

265th ENMC International Workshop: Muscle imaging in Facioscapulohumeral Muscular Dystrophy (FSHD): relevance for clinical trials. 22-24 April 2022, Hoofddorp, The Netherlands

Articolo

286th ENMC international workshop: Muscle imaging: artificial intelligence, automatic segmentation and imaging data sharing in neuromuscular disease. Hoofddorp, The Netherlands, 7-9 March 2025

Articolo

Adult-onset type II glycogenosis (GSDII): Clinical spectrum and enzyme replacement therapy (ERT)

Articolo

Adult-onset type II glycogenosis (GSDII): Clinical spectrum and enzyme replacement therapy (ERT)

Contributo in Atti di convegno

Autosomal recessive Bethlem myopathy: A clinical, genetic and functional study

Articolo

Exercise testing in late-onset glycogen storage disease type II patients undergoing enzyme replacement therapy

Articolo

Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre

Articolo

Histological effects of givinostat in boys with Duchenne muscular dystrophy

Articolo

IGHMBP2 mutation associated with organ-specific autonomic dysfunction

Articolo

Laryngeal and phrenic nerve involvement in a patient with hereditary neuropathy with liability to pressure palsies (HNPP)

Articolo

Longitudinal observational study of sporadic inclusion body myositis: Implications for clinical trials

Articolo

MYO-MRI diagnostic protocols in genetic myopathies

Articolo

Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies

Articolo

Muscle MRI in adult-onset acid maltase deficiency

Articolo

Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype

Articolo

Muscle ultrasound elastography and MRI in preschool children with Duchenne muscular dystrophy

Articolo

POMT1 and POMT2 mutations in CMD patients: A multicentric Italian study

Articolo

Partial caveolin 3 deficiency in acquired rippling muscle disease

Abstract

Post-infectious syndromes with combined central and peripheral nervous system involvement: clinical profile and effects of IVIg

Abstract

Predominant distal muscle involvement in spinal muscular atrophy

Articolo

Quantitative ultrasound measurements of bone density DMD and SMA patients

Abstract

Recombinant alpha-glucosidase in adult-onset type II glycogenosis: The experience with the first Italian patient, from expanded access programmes to marketing authorization

Contributo in Atti di convegno

Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study

Articolo

The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study

Articolo

Trunk muscle involvement in late-onset Pompe disease: Study of thirty patients

Articolo

No Results Found

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