Found: 26
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New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
- Published in:
- 2020
- By:
- Publication type:
- journal article
High intra-familiar clinical variability in MORC2 mutated CMT2 patients.
- Published in:
- 2017
- By:
- Publication type:
- Letter
Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies.
- Published in:
- Scientific Reports, 2016, p. 32439, doi. 10.1038/srep32439
- By:
- Publication type:
- Article
Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy.
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0141240
- By:
- Publication type:
- Article
Enzyme Replacement Therapy for Pompe Disease.
- Published in:
- Current Neurology & Neuroscience Reports, 2012, v. 12, n. 1, p. 70, doi. 10.1007/s11910-011-0236-5
- By:
- Publication type:
- Article
The role of electrodiagnosis with long exercise test in mcardle disease.
- Published in:
- 2018
- By:
- Publication type:
- journal article
New motor outcome function measures in evaluation of Late-Onset Pompe disease before and after enzyme replacement therapy.
- Published in:
- Muscle & Nerve, 2012, v. 45, n. 6, p. 831, doi. 10.1002/mus.23340
- By:
- Publication type:
- Article
Spinal Cord Herniation: A Missing Piece in the Pathogenesis of Amyotrophic Lateral Sclerosis and Multiple Sclerosis?
- Published in:
- Neurodegenerative Diseases, 2011, v. 8, n. 5, p. 381, doi. 10.1159/000323798
- By:
- Publication type:
- Article
Enzyme Replacement Therapy Improves Respiratory Outcomes in Patients with Late-Onset Type II Glycogenosis and High Ventilator Dependency.
- Published in:
- Lung, 2013, v. 191, n. 5, p. 537, doi. 10.1007/s00408-013-9489-x
- By:
- Publication type:
- Article
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
ExoBand, A Passive Wearable Device as a Walking Aid in Neuromuscular Patients: First Quantitative Assessment.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 877, doi. 10.3233/JND-240021
- By:
- Publication type:
- Article
Integrated care of muscular dystrophies in Italy. Part 2. Psychological treatments, social and welfare support, and financial costs.
- Published in:
- Acta Myologica, 2017, v. 36, n. 2, p. 41
- By:
- Publication type:
- Article
Integrated care of muscular dystrophies in Italy. Part 1. Pharmacological treatment and rehabilitative interventions.
- Published in:
- Acta Myologica, 2017, v. 36, p. 19
- By:
- Publication type:
- Article
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).
- Published in:
- Journal of Neurology, 2020, v. 267, n. 1, p. 45, doi. 10.1007/s00415-019-09539-y
- By:
- Publication type:
- Article
Clinical phenotype, muscle MRI and muscle pathology of LGMD1F.
- Published in:
- Journal of Neurology, 2013, v. 260, n. 8, p. 2033, doi. 10.1007/s00415-013-6931-1
- By:
- Publication type:
- Article
Long‐term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe Registry.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1219, doi. 10.1002/jimd.12272
- By:
- Publication type:
- Article
Late‐onset Pompe disease in France: molecular features and epidemiology from a nationwide study.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 937, doi. 10.1007/s10545-018-0243-7
- By:
- Publication type:
- Article
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 937, doi. 10.1007/s10545-018-0243-7
- By:
- Publication type:
- Article
SPP1 genotype and glucocorticoid treatment modify osteopontin expression in Duchenne muscular dystrophy cells.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 17, p. 3342, doi. 10.1093/hmg/ddx218
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- Publication type:
- Article
Therapeutic advances in the management of Pompe disease and other metabolic myopathies.
- Published in:
- Therapeutic Advances in Neurological Disorders, 2013, v. 6, n. 5, p. 311, doi. 10.1177/1756285613487570
- By:
- Publication type:
- Article
Progress in enzyme replacement therapy in glycogen storage disease type II.
- Published in:
- Therapeutic Advances in Neurological Disorders, 2009, v. 2, n. 3, p. 143, doi. 10.1177/1756285609103324
- By:
- Publication type:
- Article
Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
- Published in:
- 2017
- By:
- Publication type:
- Erratum
Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
- Published in:
- 2016
- By:
- Publication type:
- Erratum
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
- Published in:
- Neurogenetics, 2016, v. 17, n. 1, p. 65, doi. 10.1007/s10048-015-0465-x
- By:
- Publication type:
- Article