Pages that link to "Q63616624"
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The following pages link to Angela Berardinelli (Q63616624):
Displaying 50 items.
- Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study (Q28238656) (← links)
- Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy (Q28272074) (← links)
- Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report (Q30474594) (← links)
- Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes. (Q30856806) (← links)
- An integrated approach in a case of facioscapulohumeral dystrophy (Q33656148) (← links)
- MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features. (Q34135484) (← links)
- Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy (Q34266481) (← links)
- Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). (Q34535941) (← links)
- Psychological and practical difficulties among parents and healthy siblings of children with Duchenne vs. Becker muscular dystrophy: an Italian comparative study (Q35206606) (← links)
- The 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boys (Q35553292) (← links)
- Early Neurodevelopmental Findings Predict School Age Cognitive Abilities in Duchenne Muscular Dystrophy: A Longitudinal Study (Q35746559) (← links)
- Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study (Q35959326) (← links)
- Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry (Q36472254) (← links)
- Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort (Q36676080) (← links)
- A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes. (Q36969631) (← links)
- Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy. (Q37094802) (← links)
- Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy (Q37256202) (← links)
- Burden, professional support, and social network in families of children and young adults with muscular dystrophies. (Q37269549) (← links)
- "I have got something positive out of this situation": psychological benefits of caregiving in relatives of young people with muscular dystrophy. (Q37491401) (← links)
- Reliability of the North Star Ambulatory Assessment in a multicentric setting. (Q37530045) (← links)
- Amyotrophic lateral sclerosis and skeletal muscle: an update. (Q38160421) (← links)
- 1st Italian SMA Family Association Consensus Meeting: Management and recommendations for respiratory involvement in spinal muscular atrophy (SMA) types I-III, Rome, Italy, 30-31 January 2015. (Q38603348) (← links)
- Integrated care of muscular dystrophies in Italy. Part 2. Psychological treatments, social and welfare support, and financial costs (Q38638116) (← links)
- Integrated care of muscular dystrophies in Italy. Part 1. Pharmacological treatment and rehabilitative interventions (Q38687534) (← links)
- Autoantibodies to nodal isoforms of neurofascin in chronic inflammatory demyelinating polyneuropathy. (Q38748481) (← links)
- Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy. (Q39269345) (← links)
- Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study. (Q39847054) (← links)
- Phenotypic clustering of lamin A/C mutations in neuromuscular patients. (Q40231318) (← links)
- Long-term growth hormone therapy in mitochondrial cytopathy. (Q40521778) (← links)
- Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1. (Q41109207) (← links)
- Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test. (Q41145500) (← links)
- Vaccination recommendations for patients with neuromuscular disease. (Q41738844) (← links)
- Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort. (Q41750961) (← links)
- 6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes (Q41860015) (← links)
- Growth hormone deficiency in a patient with becker muscular dystrophy: a pediatric case report. (Q41860729) (← links)
- POMT2 mutation in a patient with 'MEB-like' phenotype. (Q41919601) (← links)
- POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study. (Q41939145) (← links)
- Correction: Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes (Q43142970) (← links)
- Congenital muscular dystrophies with cognitive impairment. A population study. (Q44505558) (← links)
- Measurement of skeletal muscle mass in Duchenne muscular dystrophy: use of 24-h creatinine excretion (Q44656324) (← links)
- Early neurodevelopmental assessment in Duchenne muscular dystrophy. (Q45781947) (← links)
- Correction: 24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy (Q46664886) (← links)
- Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements (Q47323118) (← links)
- Effects of different ventilator settings on sleep and inspiratory effort in patients with neuromuscular disease. (Q47778826) (← links)
- MRI in sarcoglycanopathies: a large international cohort study. (Q47827652) (← links)
- Clinical and neurophysiological study in diabetic children and adolescents. (Q48169142) (← links)
- Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation (Q48177919) (← links)
- Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation. (Q48530771) (← links)
- Dystrophinopathies: peculiar clinical and laboratory aspects. (Q48613145) (← links)
- Pelizaeus-Merzbacher disease: electrophysiological study of two sibs with the classic form and of their relatives. (Q48684037) (← links)