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ACTA MYOLOGICA
Rivista
Codice:
E184325
ISSN:
1128-2460
Dati Generali
Dati Generali
Pubblicazioni (42)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
A novel mithocondrial tRNAHys point mutation in a patient with PSP-like phenotype.
Abstract
Activation of NF-kappaB pathway in Duchenne muscular dystrophy: relation to age
Articolo
An unusual clinical presentation of Pompe disease charactherized by a severe distal myopathy
Abstract
Are there ERT defined guidelines for Pompe disease?
Articolo
CPEO/parkinsonism associated with OPA1 missense mutations and mtDNA multiple deletions
Abstract
Cardiological manifestations of mitochondrial respiratory chain disorders.
Articolo
Clinical, morphological and genetic data in Italian patients with congenital myopathy
Abstract
Coinvolgimento muscolare in un caso di sindrome di Sweet (dermatosi neutrofila febbrile)
Abstract
Congenital myastenic syndromes due a novel GFPT1 mutation: a new Italian case
Abstract
Correlation between SMN transcript/protein levels and clinical outcome in type III SMA patients.
Abstract
Distrofie muscolari congenite con ritardo mentale: lo studio della popolazione italiana
Abstract
Earlier cariomyopathy onset in DMD patients carrying the TT genotype at SPP1 rs28357094 R.
Abstract
Early is better? A new algorithm for early diagnosis in Late onset Pompe Disease (LOPD).
Articolo
Endocrine myopathies: Clinical and histopathological features of the major forms
Articolo
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase
Articolo
Family with epilepsy, movement disorders, mental retardation and exercise-induced myoglobinuria: expanding the spectrum of GLUT-1 Deficiency Syndrome.
Abstract
Focal myositis: a literature review of clinical and immunopathological aspects
Articolo
Genetic characterization of a large cohort of McArdle patients
Abstract
Impaired myocardial strain in early stage of Duchenne muscular dystrophy: its relation with age and motor performance
Articolo
Implication of SIRT1 and its downstream pathways in dystrophic process.
Abstract
Integrated care of muscular dystrophies in Italy. Part 1. Pharmacological treatment and rehabilitative interventions
Articolo
Integrated care of muscular dystrophies in Italy. Part 2. Psychological treatments, social and welfare support, and financial costs
Articolo
Minutes of the European POmpe Consortium (EPOC) Meeting March 27 to 28, 2015, Munich, Germany
Articolo
Morandi. Phase II multicentric double-blind placebo controlled study of tolerability and efficacy of salbutamol in adult type III patients.
Abstract
Muscle channelopathies: clinical and molecular genetic studies in a cohort of Italian patients
Abstract
New motor function’s outcome measures durng 1 year enzyme replacement therapy in 40 late-onset GSDII patients
Abstract
Outcome measures in Duchenne muscular dystrophy: validation of the Pediatric Quality of Life Inventory TM neuromuscular Module in the Italian population and correlation with other functional assessments.
Abstract
Pilot study of flavocoxid in ambulant DMD patients.
Abstract
Psychological and practical difficulties among parents and healthy siblings of children with Duchenne vs. Becker muscular dystrophy: an Italian comparative study
Articolo
Right ventricular obstructive hypertrophic cardiomyopathy in primary myo-adenylate deaminase deficiency
Articolo
Role of calcineurin/NFAT on muscle regeneration in dystrophic process.
Abstract
Ruolo del processo autofagico nella forma ad insorgenza adulta di malattia di Pompe
Abstract
SPP1 genotype influence on disease progression in ambulatory DMD patients.
Abstract
Search for mutations in the Italian patients with congenital myopathy.
Abstract
Tarui disease and Distal Glycogenoses: clinical and genetic update
Articolo
Telomere shortening and telomere associated proteins in exercised wild type and mdx mice.
Abstract
The families of children with muscular dystrophies: burden, social network and professional support.
Abstract
The first report of a patient carrying an out-of-frame exon2 deletion in the dystrophin gene and showing a very unusual phenotype.
Abstract
The role of rehabilitation in the management of late-onset Pompe disease: a narrative review of the level of evidence
Articolo
The soy isoflavones genistein promotes muscle regeneration and function acting on cell cycle and apoptosis in mdx mice.
Abstract
Therapeutic approaches in the late onset form of GSD II
Articolo
study of flavocoxid in ambulant DMD patients.
Abstract
No Results Found
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