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Dystrophic Myopathy of the Diaphragm with Recurrent Severe Respiratory Failure is Congenital Myasthenic Syndrome 11.
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- Journal of Neuromuscular Diseases, 2023, v. 10, n. 2, p. 271, doi. 10.3233/JND-221542
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- Article
Long-Term Follow-Up of Bezafibrate Treatment in Patients With the Myopathic Form of Carnitine Palmitoyltransferase 2 Deficiency.
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- Clinical Pharmacology & Therapeutics, 2010, v. 88, n. 1, p. 101, doi. 10.1038/clpt.2010.55
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- Article
Genetic control of autoantibody expression in autoimmune myasthenia gravis: role of the self-antigen and of HLA-linked loci.
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- Genes & Immunity, 2004, v. 5, n. 5, p. 398, doi. 10.1038/sj.gene.6364110
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- Article
Association of the gene encoding the d-subunit of the muscle acetylcholine receptor (CHRND) with acquired autoimmune myasthenia gravis.
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- Genes & Immunity, 2004, v. 5, n. 1, p. 80, doi. 10.1038/sj.gene.6364041
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- Article
Recovery from Myasthenia Gravis of a Patient Infected with Human Immunodeficiency Virus.
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- Clinical Infectious Diseases, 1992, v. 15, n. 2, p. 379
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- Article
Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations.
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- Journal of Neurology, 2019, v. 266, n. 12, p. 2987, doi. 10.1007/s00415-019-09494-8
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- Article
Pregnancy in congenital myasthenic syndrome.
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- Journal of Neurology, 2013, v. 260, n. 3, p. 815, doi. 10.1007/s00415-012-6709-x
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- Article
The association of systemic lupus erythematosus and myasthenia gravis: a series of 17 cases, with a special focus on hydroxychloroquine use and a review of the literature.
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- Journal of Neurology, 2012, v. 259, n. 7, p. 1290, doi. 10.1007/s00415-011-6335-z
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- Article
Breast Inflammatory Gigantomastia in a Context of Immune-Mediated Diseases.
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- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 9, p. 5287, doi. 10.1210/jc.2005-0642
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- Article
A Comprehensive Endocrine Description of Kennedy’s Disease Revealing Androgen Insensitivity Linked to CAG Repeat Length.
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- Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 8, p. 3893, doi. 10.1210/jcem.87.8.8780
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- Article
Diagnostic anoctamin‐5 protein defect in patients with ANO5‐mutated muscular dystrophy.
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- Neuropathology & Applied Neurobiology, 2018, v. 44, n. 5, p. 441, doi. 10.1111/nan.12410
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- Article
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.
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- Neuropathology & Applied Neurobiology, 2011, v. 37, n. 3, p. 271, doi. 10.1111/j.1365-2990.2010.01149.x
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- Publication type:
- Article
EFNS nuorodos apie galūnių-juosmens raumenų distrofijų diagnostiką ir gydymą.
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- Neurologijos Seminarai, 2008, v. 12, n. 3, p. 170
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- Article
Gemcitabine and oxaliplatin combination chemotherapy for metastatic well-differentiated neuroendocrine carcinomas: a single-center experience.
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- 2009
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- Journal Article
Cellular aspects of myasthenia gravis.
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- Immunologic Research, 1988, v. 7, n. 3, p. 189, doi. 10.1007/BF02918134
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- Publication type:
- Article
Accumulation of acetylcholine receptors is a necessary condition for normal accumulation of acetylcholinesterase during in vitro neuromuscular synaptogenesis.
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- European Journal of Neuroscience, 1998, v. 10, n. 5, p. 1631, doi. 10.1046/j.1460-9568.1998.00165.x
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- Article
Long-term observational study of sporadic inclusion body myositis.
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- 2011
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- Publication type:
- Journal Article
Zaspopathy in a large classic late-onset distal myopathy family.
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- Brain: A Journal of Neurology, 2007, v. 130, n. 6, p. 1477, doi. 10.1093/brain/awm006
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- Article
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
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- 2005
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- Publication type:
- Journal Article
LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene.
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- Brain: A Journal of Neurology, 2005, v. 128, n. 4, p. 732
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- Article
Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders.
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- 2001
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- Publication type:
- journal article
Functional Activities of MG Patient Sera in Rat Myotube Cultures.
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- Annals of the New York Academy of Sciences, 1987, v. 505, n. 1, p. 907, doi. 10.1111/j.1749-6632.1987.tb51409.x
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- Article
Neonatal myasthenia gravis: antigenic specificities of antibodies in sera from mothers and their infants.
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- Clinical & Experimental Immunology, 1990, v. 80, n. 3, p. 376
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- Article
Permanent muscle weakness in MCArdle disease.
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- 2009
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- Publication type:
- Journal Article
Fast Stent Retrieval during Mechanical Thrombectomy Improves Recanalization in Patients with the Negative Susceptibility Vessel Sign.
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- American Journal of Neuroradiology, 2021, v. 42, n. 4, p. 726, doi. 10.3174/ajnr.A6989
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- Article
Cold extends electromyography distinction between ion channel mutations causing myotonia.
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- 2006
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- Publication type:
- Journal Article
Association of the PTPN22*R620W polymorphism with autoimmune myasthenia gravis.
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- 2006
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- Publication type:
- Journal Article
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
- Published in:
- Annals of Neurology, 2000, v. 48, n. 2, p. 170, doi. 10.1002/1531-8249(200008)48:2<170::AID-ANA6>3.0.CO;2-J
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- Article
Prediction of long-term prognosis by heteroplasmy levels of the m.3243A>G mutation in patients with the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome.
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- European Journal of Neurology, 2017, v. 24, n. 2, p. 255, doi. 10.1111/ene.13176
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- Article
Diagnostic power of the non-ischaemic forearm exercise test in detecting glycogenosis type V.
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- European Journal of Neurology, 2015, v. 22, n. 6, p. 933, doi. 10.1111/ene.12685
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- Article
Antibodies to clustered acetylcholine receptor: expanding the phenotype.
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- European Journal of Neurology, 2014, v. 21, n. 1, p. 130, doi. 10.1111/ene.12270
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- Article
EFNS guideline on diagnosis and management of limb girdle muscular dystrophies.
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- European Journal of Neurology, 2007, v. 14, n. 12, p. 1305, doi. 10.1111/j.1468-1331.2007.01979.x
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- Article