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Antiepileptic Treatment in Patients with Early Postischemic Stroke Seizures: A Retrospective Study.
- Published in:
- Cerebrovascular Diseases, 2001, v. 12, n. 1, p. 39, doi. 10.1159/000047679
- By:
- Publication type:
- Article
Cerebrotendinous xanthomatosis without xanthomas.
- Published in:
- 1999
- By:
- Publication type:
- Case Study
Unusual neurological manifestations of primary human immunodeficiency virus infection.
- Published in:
- European Journal of Neurology, 1998, v. 5, n. 4, p. 369, doi. 10.1046/j.1468-1331.1998.540369.x
- By:
- Publication type:
- Article
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.
- Published in:
- Nature Genetics, 2001, v. 29, n. 1, p. 83, doi. 10.1038/ng718
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- Publication type:
- Article
Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0315-1
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- Publication type:
- Article
Posterior semicircular canal type benign paroxysmal positioning vertigo with ageotropic paroxysmal positioning nystagmus.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Electrical stimulation of the posterior tibial nerve reduces neuropathic pain in patients with polyneuropathy.
- Published in:
- Journal of Pain Research, 2017, v. 10, p. 2717, doi. 10.2147/jpr.s137420
- By:
- Publication type:
- Article
The Proteomic Profile of Hereditary Inclusion Body Myopathy.
- Published in:
- PLoS ONE, 2011, v. 6, n. 1, p. 1, doi. 10.1371/journal.pone.0016334
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- Publication type:
- Article
Beneficial effect of albuterol in congenital myasthenic syndrome with epsilon-subunit mutations.
- Published in:
- Muscle & Nerve, 2011, v. 44, n. 2, p. 289, doi. 10.1002/mus.22153
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- Publication type:
- Article
Stimulated single-fiber electromyography in Lambert-Eaton myasthenic syndrome before and after 3,4-diaminopyridine.
- Published in:
- 1997
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- Publication type:
- journal article
Auditory hallucinations in acute stroke.
- Published in:
- Behavioural Neurology, 2005, v. 16, n. 4, p. 211, doi. 10.1155/2005/641953
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- Publication type:
- Article
Pathological laughter as a symptom of midbrain infarction.
- Published in:
- Behavioural Neurology, 2004, v. 15, n. 3/4, p. 73, doi. 10.1155/2004/409248
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- Publication type:
- Article
MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 4, p. 226, doi. 10.1038/sj.ejhg.5200791
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- Publication type:
- Article
Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9p12-p13.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 7, p. 501, doi. 10.1038/sj.ejhg.5200665
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- Publication type:
- Article
Ser77Tyr transthyretin amyloidosis in Israel: Initial manifestations and diagnostic features.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 4, p. 553, doi. 10.1002/acn3.51741
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- Publication type:
- Article
Frequent misdiagnosis of adult polyglucosan body disease.
- Published in:
- Journal of Neurology, 2015, v. 262, n. 10, p. 2346, doi. 10.1007/s00415-015-7859-4
- By:
- Publication type:
- Article
Moving Fingers Associated with Dupuytren’s Disease: A Case Report.
- Published in:
- European Neurology, 2008, v. 59, n. 1/2, p. 96, doi. 10.1159/000109578
- By:
- Publication type:
- Article
Extended Phenotype in the Transthyretin Tyr77 Familial Amyloid Polyneuropathy.
- Published in:
- European Neurology, 2005, v. 53, n. 2, p. 55, doi. 10.1159/000084299
- By:
- Publication type:
- Article
Kyphoscoliosis peptidase ( KY) mutation causes a novel congenital myopathy with core targetoid defects.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Muscle Glycogen Depletion and Increased Oxidative Phosphorylation Following Status Epilepticus.
- Published in:
- Journal of Child Neurology, 2003, v. 18, n. 12, p. 876, doi. 10.1177/088307380301801208
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- Publication type:
- Article
Common Peroneal Neuropathy due to Surfing.
- Published in:
- Journal of Child Neurology, 2000, v. 15, n. 6, p. 420
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- Publication type:
- Article
Nitrous Oxide-induced Myeloneuropathy Due to Recreational Abuse.
- Published in:
- Israel Medical Association Journal, 2024, v. 26, n. 5, p. 294
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- Publication type:
- Article
In vivo <sup>23</sup>Na NMR studies of myotonic dystrophy.
- Published in:
- Magnetic Resonance in Medicine, 1997, v. 37, n. 2, p. 192, doi. 10.1002/mrm.1910370209
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- Publication type:
- Article
Mitochondrial processes are impaired in hereditary inclusion body myopathy.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 23, p. 3663, doi. 10.1093/hmg/ddn261
- By:
- Publication type:
- Article
E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 7, p. 739, doi. 10.1093/hmg/ddg089
- By:
- Publication type:
- Article
Electrical stimulation of the posterior tibial nerve reduces neuropathic pain in patients with polyneuropathy.
- Published in:
- Medical Devices: Evidence & Research, 2017, v. 10, p. 2717, doi. 10.2147/JPR.S137420
- By:
- Publication type:
- Article
The homozygous M712T mutation of UDP-<f>N</f>-acetylglucosamine 2-epimerase/<f>N</f>-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy
- Published in:
- FEBS Letters, 2004, v. 566, n. 1-3, p. 105, doi. 10.1016/j.febslet.2004.04.013
- By:
- Publication type:
- Article
Myotonia in DNM2-related centronuclear myopathy.
- Published in:
- Journal of Neural Transmission, 2014, v. 121, n. 5, p. 549, doi. 10.1007/s00702-013-1140-8
- By:
- Publication type:
- Article
Hexosaminidase a deficiency manifesting as spinal muscular atrophy of late onset.
- Published in:
- Annals of Neurology, 1988, v. 24, n. 3, p. 451, doi. 10.1002/ana.410240316
- By:
- Publication type:
- Article
Neuroaxonal dystrophy and hemosiderin in the central nervous system.
- Published in:
- 1980
- By:
- Publication type:
- journal article
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B.
- Published in:
- Nature Genetics, 1998, v. 20, n. 1, p. 37, doi. 10.1038/1689
- By:
- Publication type:
- Article
Oculopharyngeal Muscular Dystrophy among Bulgarian Jews: A New Cluster?
- Published in:
- Israel Medical Association Journal, 2013, v. 15, n. 12, p. 748
- By:
- Publication type:
- Article
Association of the M3151 Variant in the Transient Receptor Potential Vanilloid Receptor-1 (TRPV1) Gene with Type I Diabetes in an Ashkenazi Jewish Population.
- Published in:
- Israel Medical Association Journal, 2013, v. 15, n. 9, p. 477
- By:
- Publication type:
- Article
Clinical and Genetic Findings in Eight Israeli Patients with Transthyretin-Associated Familial Amyloid Polyneuropathy.
- Published in:
- Israel Medical Association Journal, 2012, v. 14, n. 11, p. 662
- By:
- Publication type:
- Article
Clinical, Electrophysiologic and Pathologic Findings in 10 Patients with Myotonic Dystrophy 2.
- Published in:
- Israel Medical Association Journal, 2011, v. 13, n. 12, p. 745
- By:
- Publication type:
- Article
Dysferlinopathy and Very-Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency Segregating in the Same Family.
- Published in:
- Israel Medical Association Journal, 2011, v. 13, n. 10, p. 632
- By:
- Publication type:
- Article
Multi-system neurological disorder associated with a CRYAB variant.
- Published in:
- Neurogenetics, 2021, v. 22, n. 2, p. 117, doi. 10.1007/s10048-021-00640-x
- By:
- Publication type:
- Article
Botulinum toxin for the treatment of oro-facial-lingual-masticatory tardive dyskinesia.
- Published in:
- Movement Disorders, 2000, v. 15, n. 2, p. 352, doi. 10.1002/1531-8257(200003)15:2<352::AID-MDS1030>3.0.CO;2-X
- By:
- Publication type:
- Article
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
- Published in:
- Human Mutation, 2003, v. 21, n. 1, p. 99, doi. 10.1002/humu.9100
- By:
- Publication type:
- Article
Evidence for Genetic Heterogeneity Supports Clinical Differences in Congenital Myasthenic Syndromes.
- Published in:
- Human Heredity, 1998, v. 48, n. 6, p. 325, doi. 10.1159/000022824
- By:
- Publication type:
- Article
Evaluation of cutaneous autonomic innervation in idiopathic sensory small-fiber neuropathy.
- Published in:
- Journal of the Peripheral Nervous System, 2007, v. 12, n. 2, p. 98, doi. 10.1111/j.1529-8027.2007.00128.x
- By:
- Publication type:
- Article
Acute steroid responsive small-fiber sensory neuropathy: a new entity?
- Published in:
- Journal of the Peripheral Nervous System, 2006, v. 11, n. 1, p. 47, doi. 10.1111/j.1085-9489.2006.00062.x
- By:
- Publication type:
- Article
Phenotypic heterogeneity in familial inclusion body myopathy.
- Published in:
- Muscle & Nerve, 1995, v. 18, n. 5, p. 546, doi. 10.1002/mus.880180512
- By:
- Publication type:
- Article
Single fiber EMG in a congenital myasthenic syndrome associated with facial malformations.
- Published in:
- Muscle & Nerve, 1993, v. 16, n. 2, p. 177, doi. 10.1002/mus.880160210
- By:
- Publication type:
- Article
Mitochondrial abnormalities in oculopharyngeal muscular dystrophy.
- Published in:
- Muscle & Nerve, 1991, v. 14, n. 10, p. 947, doi. 10.1002/mus.880141004
- By:
- Publication type:
- Article
Altered rat skeletal muscle carnitine with age and after denervation.
- Published in:
- Muscle & Nerve, 1985, v. 8, n. 1, p. 34, doi. 10.1002/mus.880080107
- By:
- Publication type:
- Article
Letters to the editor.
- Published in:
- Muscle & Nerve, 1984, v. 7, n. 9, p. 751, doi. 10.1002/mus.880070909
- By:
- Publication type:
- Article