Found: 91
Select item for more details and to access through your institution.
LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 1, p. 125, doi. 10.3233/JND-221555
- By:
- Publication type:
- Article
Slow Channel Syndrome Revisited: 40 Years Clinical Follow-Up and Genetic Characterization of Two Cases.
- Published in:
- Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 525, doi. 10.3233/JND-220798
- By:
- Publication type:
- Article
The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care.
- Published in:
- 2019
- By:
- Publication type:
- journal article
A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Autologous Myoblast Transplantation for Oculopharyngeal Muscular Dystrophy: a Phase I/Iia Clinical Study.
- Published in:
- Molecular Therapy, 2014, v. 22, n. 1, p. 219, doi. 10.1038/mt.2013.155
- By:
- Publication type:
- Article
MUSK, a new target for mutations causing congenital myasthenic syndrome.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 24, p. 3229, doi. 10.1093/hmg/ddh333
- By:
- Publication type:
- Article
Electrophysiological Study With Prophylactic Pacing and Survival in Adults With Myotonic Dystrophy and Conduction System Disease.
- Published in:
- JAMA: Journal of the American Medical Association, 2012, v. 307, n. 12, p. 1292, doi. 10.1001/jama.2012.346
- By:
- Publication type:
- Article
Moderate phenotype of a congenital myasthenic syndrome type 19 caused by mutation of the COL13A1 gene: a case report.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Moderate phenotype of a congenital myasthenic syndrome type 19 caused by mutation of the COL13A1 gene: a case report.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 8, p. 855, doi. 10.1038/ejhg.2012.269
- By:
- Publication type:
- Article
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 8, p. 892, doi. 10.1038/ejhg.2013.74
- By:
- Publication type:
- Article
The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD).
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 10, p. 4233, doi. 10.1093/brain/awad153
- By:
- Publication type:
- Article
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Atypical phenotypes in titinopathies explained by second titin mutations.
- Published in:
- Annals of Neurology, 2014, v. 75, n. 2, p. 230, doi. 10.1002/ana.24102
- By:
- Publication type:
- Article
Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 22, p. 16217, doi. 10.3390/ijms242216217
- By:
- Publication type:
- Article
Thymic Germinal Centers and Corticosteroids in Myasthenia Gravis: an Immunopathological Study in 1035 Cases and a Critical Review.
- Published in:
- Clinical Reviews in Allergy & Immunology, 2017, v. 52, n. 1, p. 108, doi. 10.1007/s12016-016-8558-3
- By:
- Publication type:
- Article
Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons.
- Published in:
- Acta Neuropathologica, 2022, v. 144, n. 4, p. 707, doi. 10.1007/s00401-022-02475-8
- By:
- Publication type:
- Article
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
- Published in:
- Acta Neuropathologica, 2017, v. 133, n. 4, p. 517, doi. 10.1007/s00401-016-1656-8
- By:
- Publication type:
- Article
“Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.
- Published in:
- Acta Neuropathologica, 2009, v. 117, n. 3, p. 283, doi. 10.1007/s00401-008-0472-1
- By:
- Publication type:
- Article
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study.
- Published in:
- Acta Neuropathologica, 2009, v. 117, n. 3, p. 293, doi. 10.1007/s00401-008-0479-7
- By:
- Publication type:
- Article
An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus.
- Published in:
- Nature, 2007, v. 448, n. 7156, p. 934, doi. 10.1038/nature06066
- By:
- Publication type:
- Article
Relationships between grip strength, myotonia, and CTG expansion in myotonic dystrophy type 1.
- Published in:
- Annals of Clinical & Translational Neurology, 2017, v. 4, n. 12, p. 921, doi. 10.1002/acn3.496
- By:
- Publication type:
- Article
Natural history of LGMD2A for delineating outcome measures in clinical trials.
- Published in:
- Annals of Clinical & Translational Neurology, 2016, v. 3, n. 4, p. 248, doi. 10.1002/acn3.287
- By:
- Publication type:
- Article
IL-6 and Akt are involved in muscular pathogenesis in myasthenia gravis.
- Published in:
- Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-014-0179-6
- By:
- Publication type:
- Article
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.
- Published in:
- Acta Neuropathologica Communications, 2014, v. 2, n. 1, p. 1, doi. 10.1186/2051-5960-2-44
- By:
- Publication type:
- Article
Comprehensive evaluation of structural and functional myocardial impairments in Becker muscular dystrophy using quantitative cardiac magnetic resonance imaging.
- Published in:
- European Heart Journal - Cardiovascular Imaging, 2019, v. 20, n. 8, p. 906, doi. 10.1093/ehjci/jey209
- By:
- Publication type:
- Article
Mutations in dynamin 2 cause dominant centronuclear myopathy.
- Published in:
- Nature Genetics, 2005, v. 37, n. 11, p. 1207, doi. 10.1038/ng1657
- By:
- Publication type:
- Article
Marathons and myasthenia gravis: a case report.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Long-term results of cricopharyngeal myotomy in oculopharyngeal muscular dystrophy
- Published in:
- Otolaryngology-Head & Neck Surgery, 2006, v. 135, n. 2, p. 218, doi. 10.1016/j.otohns.2006.03.015
- By:
- Publication type:
- Article
Enlightening behavioral disturbances in myotonic dystrophy type 1 through neuropsychology and imaging correlations: Insights from the frontal and temporal lobe functions: Neuropsychiatry and behavioral neurology/presymptomatic disease/prodromal disease/prodromal states
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.043114
- By:
- Publication type:
- Article
P1‐281: CLINICAL AND PARACLINICAL COMPARISONS BETWEEN MYOTONIC DYSTROPHY TYPE 1 (DM1) AND FRONTOTEMPORAL (BVFTD) PATIENTS.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P349, doi. 10.1016/j.jalz.2019.06.836
- By:
- Publication type:
- Article
Immune checkpoint inhibitors for progressive multifocal leukoencephalopathy: a new gold standard?
- Published in:
- Journal of Neurology, 2021, v. 268, n. 7, p. 2458, doi. 10.1007/s00415-021-10414-y
- By:
- Publication type:
- Article
Lambert-Eaton myasthenic syndrome (LEMS): a rare autoimmune presynaptic disorder often associated with cancer.
- Published in:
- Journal of Neurology, 2017, v. 264, n. 9, p. 1854, doi. 10.1007/s00415-017-8541-9
- By:
- Publication type:
- Article
Erratum to: Lambert-Eaton myasthenic syndrome (LEMS): a rare autoimmune presynaptic disorder often associated with cancer.
- Published in:
- 2017
- By:
- Publication type:
- Erratum
Reduced inotropic reserve is predictive of further degradation in left ventricular ejection fraction in patients with Duchenne muscular dystrophy.
- Published in:
- European Journal of Heart Failure, 2015, v. 17, n. 2, p. 177, doi. 10.1002/ejhf.213
- By:
- Publication type:
- Article
Th1 Response and Systemic Treg Deficiency in Inclusion Body Myositis.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0088788
- By:
- Publication type:
- Article
Pathogenic DPAGT1 variants in limb‐girdle congenital myasthenic syndrome (LG‐CMS) associated with tubular aggregates and ORAI1 hypoglycosylation.
- Published in:
- Neuropathology & Applied Neurobiology, 2024, v. 50, n. 1, p. 1, doi. 10.1111/nan.12952
- By:
- Publication type:
- Article
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Prevalence and correlates of apathy in myotonic dystrophy type 1.
- Published in:
- BMC Neurology, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12883-015-0401-6
- By:
- Publication type:
- Article
A high prevalence of arterial hypertension in patients with mitochondrial diseases.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 478, doi. 10.1002/jimd.12195
- By:
- Publication type:
- Article
Incidence and predictors of total mortality in 267 adults presenting with mitochondrial diseases.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 459, doi. 10.1002/jimd.12185
- By:
- Publication type:
- Article
Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 573, doi. 10.1007/s10545-014-9789-1
- By:
- Publication type:
- Article
Unravelling the impact of frontal lobe impairment for social dysfunction in myotonic dystrophy type 1.
- Published in:
- Brain Communications, 2022, v. 4, n. 3, p. 1, doi. 10.1093/braincomms/fcac111
- By:
- Publication type:
- Article
Comparison of Corticosteroid Tapering Regimens in Myasthenia Gravis: A Randomized Clinical Trial.
- Published in:
- JAMA Neurology, 2021, v. 78, n. 4, p. 426, doi. 10.1001/jamaneurol.2020.5407
- By:
- Publication type:
- Article
Exploring necrotizing autoimmune myopathies with a novel immunoassay for anti-3-hydroxy-3-methyl-glutaryl-CoA reductase autoantibodies.
- Published in:
- Arthritis Research & Therapy, 2014, v. 16, n. 1, p. 1, doi. 10.1186/ar4468
- By:
- Publication type:
- Article
A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.
- Published in:
- PLoS ONE, 2017, v. 12, n. 10, p. 1, doi. 10.1371/journal.pone.0186642
- By:
- Publication type:
- Article
Binding and blocking antibodies to the human acetylcholine receptor: Are they selected in various myasthenia gravis forms?
- Published in:
- Immunologic Research, 1988, v. 7, n. 3, p. 212, doi. 10.1007/BF02918136
- By:
- Publication type:
- Article
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies.
- Published in:
- Human Mutation, 2007, v. 28, n. 4, p. 374, doi. 10.1002/humu.20459
- By:
- Publication type:
- Article
Erratum: Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.
- Published in:
- Human Mutation, 2005, v. 26, n. 6, p. 592, doi. 10.1002/humu.9388
- By:
- Publication type:
- Article