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Myoclonus in mitochondrial disorders.
- Published in:
- Movement Disorders, 2014, v. 29, n. 6, p. 722, doi. 10.1002/mds.25839
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- Publication type:
- Article
Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey.
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- Journal of Neuromuscular Diseases, 2023, v. 10, n. 2, p. 173, doi. 10.3233/JND-221525
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- Publication type:
- Article
Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction.
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- Cells (2073-4409), 2020, v. 9, n. 6, p. 1532, doi. 10.3390/cells9061532
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- Publication type:
- Article
Psychopharmacological Treatments for Mental Disorders in Patients with Neuromuscular Diseases: A Scoping Review.
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- Brain Sciences (2076-3425), 2022, v. 12, n. 2, p. 176, doi. 10.3390/brainsci12020176
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- Publication type:
- Article
The 6 Minute Walk Test and Performance of Upper Limb in Ambulant Duchenne Muscular Dystrophy Boys.
- Published in:
- PLoS Currents, 2014, p. 497, doi. 10.1371/currents.md.a93d9904d57dcb08936f2ea89bca6fe6
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- Publication type:
- Article
Facioscapulohumeral Muscular Dystrophy and Occurrence of Heart Arrhythmia.
- Published in:
- European Neurology, 2006, v. 56, n. 1, p. 1, doi. 10.1159/000094248
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- Publication type:
- Article
Acute Neuromuscular Failure Related to Long-Term Botulinum Toxin Therapy.
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- European Neurology, 2004, v. 51, n. 3, p. 181, doi. 10.1159/000077670
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- Publication type:
- Article
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature.
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- Acta Myologica, 2023, v. 42, n. 4, p. 113, doi. 10.36185/2532-1900-323
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- Publication type:
- Article
Juvenile Myasthenia Gravis in a 14-year-old adolescent masked by mood disorder: the complex balance between neurology and psychiatry.
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- Acta Myologica, 2022, v. 41, n. 3, p. 126, doi. 10.36185/2532-1900-079
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- Publication type:
- Article
Frailties and critical issues in neuromuscular diseases highlighted by SARS-CoV-2 pandemic: how many patients are still "invisible"?
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- Acta Myologica, 2022, v. 41, n. 1, p. 24, doi. 10.36185/2532-1900-065
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- Publication type:
- Article
The role of rehabilitation in the management of late-onset Pompe disease: a narrative review of the level of evidence.
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- Acta Myologica, 2018, v. 37, n. 4, p. 241
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- Publication type:
- Article
Differential diagnosis of vacuolar muscle biopsies: use of p62, LC3 and LAMP2 immunohistochemistry.
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- Acta Myologica, 2017, v. 36, n. 4, p. 191
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- Publication type:
- Article
Facioscapulohumeral Muscular Dystrophy: A Multicenter Study on Hearing Function.
- Published in:
- Audiology & Neurotology, 2008, v. 13, n. 1, p. 1, doi. 10.1159/000107431
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- Publication type:
- Article
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study.
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- European Journal of Human Genetics, 2013, v. 21, n. 6, p. 630, doi. 10.1038/ejhg.2012.233
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- Publication type:
- Article
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy.
- Published in:
- PLoS ONE, 2022, v. 17, n. 7, p. 1, doi. 10.1371/journal.pone.0271681
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- Publication type:
- Article
A case of histological diagnosis of Toxoplasma gondii myositis in a person living with HIV.
- Published in:
- Infezioni in Medicina, 2023, v. 31, n. 3, p. 407, doi. 10.53854/liim-3103-16
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- Publication type:
- Article
A man with fever and bilateral limb weakness.
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- Internal & Emergency Medicine, 2020, v. 15, n. 6, p. 1051, doi. 10.1007/s11739-019-02112-5
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- Publication type:
- Article
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
- Published in:
- Annals of Neurology, 2023, v. 94, n. 6, p. 1126, doi. 10.1002/ana.26788
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- Publication type:
- Article
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 23, p. 14567, doi. 10.3390/ijms232314567
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- Article
Letters to the Editor.
- Published in:
- Muscle & Nerve, 1981, v. 4, n. 2, p. 176, doi. 10.1002/mus.880040216
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- Publication type:
- Article
Wearable Inertial Devices in Duchenne Muscular Dystrophy: A Scoping Review.
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- Applied Sciences (2076-3417), 2023, v. 13, n. 3, p. 1268, doi. 10.3390/app13031268
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- Publication type:
- Article
Motor Outcome Measures in Pediatric Patients with Congenital Muscular Dystrophies: A Scoping Review.
- Published in:
- Applied Sciences (2076-3417), 2023, v. 13, n. 2, p. 1204, doi. 10.3390/app13021204
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- Publication type:
- Article
Early higher dosage of alglucosidase alpha in classic Pompe disease.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 12, p. 1343, doi. 10.1515/jpem-2018-0336
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- Publication type:
- Article
Quality of life assessment in adult spinal muscular atrophy patients treated with nusinersen.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 6, p. 3264, doi. 10.1007/s00415-021-10954-3
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- Publication type:
- Article
Muscle pain in mitochondrial diseases: a picture from the Italian network.
- Published in:
- Journal of Neurology, 2019, v. 266, n. 4, p. 953, doi. 10.1007/s00415-019-09219-x
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- Publication type:
- Article
A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.
- Published in:
- Journal of Neurology, 2016, v. 263, n. 6, p. 1204, doi. 10.1007/s00415-016-8123-2
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- Publication type:
- Article
Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion.
- Published in:
- 2015
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- Publication type:
- Erratum
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.
- Published in:
- Journal of Neurology, 2015, v. 262, n. 7, p. 1728, doi. 10.1007/s00415-015-7757-9
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- Publication type:
- Article
Redefining phenotypes associated with mitochondrial DNA single deletion.
- Published in:
- Journal of Neurology, 2015, v. 262, n. 5, p. 1301, doi. 10.1007/s00415-015-7710-y
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- Publication type:
- Article
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?
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- Journal of Neurology, 2014, v. 261, n. 3, p. 504, doi. 10.1007/s00415-013-7225-3
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- Publication type:
- Article
Carrier detection of Duchenne muscular dystrophy through analysis of DNA from deciduous teeth of a dead affected child.
- Published in:
- 1995
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- Publication type:
- journal article
Psychosocial impact of sport activity in neuromuscular disorders.
- Published in:
- Neurological Sciences, 2020, v. 41, n. 9, p. 2561, doi. 10.1007/s10072-020-04345-1
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- Publication type:
- Article
Adapted physical activity and therapeutic exercise in late-onset Pompe disease (LOPD): a two-step rehabilitative approach.
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- 2020
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- Publication type:
- journal article
Practical approach to respiratory emergencies in neurological diseases.
- Published in:
- Neurological Sciences, 2020, v. 41, n. 3, p. 497, doi. 10.1007/s10072-019-04163-0
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- Publication type:
- Article
Practical approach to respiratory emergencies in neurological diseases.
- Published in:
- 2019
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- Publication type:
- journal article
Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis.
- Published in:
- 2013
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- Publication type:
- Letter
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
- Published in:
- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01357-0
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- Publication type:
- Article
CHINESE RED RICE DEPLETES MUSCLE COENZYME Q<sub>10</sub> AND MAINTAINS MUSCLE DAMAGE AFTER DISCONTINUATION OF STATIN TREATMENT.
- Published in:
- 2006
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- Publication type:
- Letter
Glycogen Storage Disease Type II Diagnosed in a 74-Year-Old Woman.
- Published in:
- 2004
- By:
- Publication type:
- Letter
North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up.
- Published in:
- PLoS ONE, 2021, v. 16, n. 6, p. 1, doi. 10.1371/journal.pone.0253882
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- Publication type:
- Article
Genotype-phenotype correlation in Pompe disease, a step forward.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0102-z
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- Publication type:
- Article
Genotype-phenotype correlation in Pompe disease, a step forward.
- Published in:
- 2014
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- Publication type:
- journal article
The empowerment of translational research: lessons from laminopathies.
- Published in:
- 2012
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- Publication type:
- letter
The empowerment of translational research: lessons from laminopathies.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 37, doi. 10.1186/1750-1172-7-37
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- Publication type:
- Article
Quantitative muscle strength assessment in duchenne muscular dystrophy: longitudinal study and correlation with functional measures.
- Published in:
- BMC Neurology, 2012, v. 12, n. 1, p. 91, doi. 10.1186/1471-2377-12-91
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- Publication type:
- Article
Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study.
- Published in:
- Children, 2023, v. 10, n. 4, p. 746, doi. 10.3390/children10040746
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- Publication type:
- Article
Improving Recognition of Treatable Rare Neuromuscular Disorders in Primary Care: A Pilot Feasibility Study.
- Published in:
- Children, 2022, v. 9, n. 7, p. N.PAG, doi. 10.3390/children9071063
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- Publication type:
- Article
Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-78578-7
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- Publication type:
- Article
Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients.
- Published in:
- Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00160
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- Publication type:
- Article
Vacuolated PAS-Positive Lymphocytes on Blood Smear: An Easy Screening Tool and a Possible Biomarker for Monitoring Therapeutic Responses in Late Onset Pompe Disease (LOPD).
- Published in:
- Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00880
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- Publication type:
- Article