Found: 29
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All-trans-Retinoic Acid Modulates Nitric Oxide and Interleukin-17A Production by Peripheral Blood Mononuclear Cells from Patients with Alzheimer's Disease.
- Published in:
- Neuroimmunomodulation, 2015, v. 22, n. 6, p. 385, doi. 10.1159/000435885
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- Publication type:
- Article
Heterozygous EIF2AK2 Variant Causes Adolescence‐Onset Generalized Dystonia Partially Responsive to DBS.
- Published in:
- Movement Disorders Clinical Practice, 2022, v. 9, n. 2, p. 268, doi. 10.1002/mdc3.13371
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- Publication type:
- Article
The classification of Charcot-Marie-Tooth diseases, a never-ending story: CMT4?
- Published in:
- 2018
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- Publication type:
- Letter to the Editor
The classification of Charcot-Marie-Tooth diseases, a never-ending story: CMT4?
- Published in:
- 2018
- By:
- Publication type:
- Letter
Les syndromes myasthéniques congénitaux avec anomalies cinétiques du récepteur à l'acétylcholine.
- Published in:
- Médecine Sciences, 2023, v. 39, p. 58, doi. 10.1051/medsci/2023135
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- Publication type:
- Article
La grande variabilité phénotypique des mutations du gène RYR1.
- Published in:
- Médecine Sciences, 2022, v. 38, p. 46, doi. 10.1051/medsci/2022178
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- Publication type:
- Article
Un cas de myasthénie congénitale des ceintures résolu grâce à une collaboration tripartite.
- Published in:
- Médecine Sciences, 2021, v. 37, p. 50, doi. 10.1051/medsci/2021196
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- Publication type:
- Article
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
- Published in:
- Nature Genetics, 2007, v. 39, n. 3, p. 366, doi. 10.1038/ng1980
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- Publication type:
- Article
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
- Published in:
- Nature Genetics, 2004, v. 36, n. 3, p. 225, doi. 10.1038/ng1303
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- Publication type:
- Article
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.
- Published in:
- Nature Genetics, 2000, v. 26, n. 3, p. 370, doi. 10.1038/81701
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- Publication type:
- Article
Multiple sclerosis: Progression rate and severity in a multicenter cohort from Algeria.
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- Multiple Sclerosis Journal, 2014, v. 20, n. 14, p. 1923, doi. 10.1177/1352458514543343
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- Publication type:
- Article
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.
- Published in:
- JAMA Neurology, 2018, v. 75, n. 4, p. 495, doi. 10.1001/jamaneurol.2017.4373
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- Publication type:
- Article
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 3, p. 772, doi. 10.1093/brain/awm293
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- Publication type:
- Article
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ<sub>10</sub> deficiency.
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- FASEB Journal, 2010, v. 24, n. 10, p. 3733, doi. 10.1096/fj.09-152728
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- Publication type:
- Article
Diagnostic value of ultrastructural nerve examination in Charcot-Marie-Tooth disease: two CMT 1B cases with pseudo-recessive inheritance.
- Published in:
- Acta Neuropathologica, 2007, v. 113, n. 4, p. 443, doi. 10.1007/s00401-007-0196-7
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- 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
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- 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
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- Publication type:
- journal article
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
- Published in:
- 2019
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- Publication type:
- journal article
Reasons Charcot-Marie-Tooth disease due to mutations in the MME gene should not be named AR-CMT2T.
- Published in:
- 2016
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- Publication type:
- Letter
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.
- Published in:
- Journal of Neurology, 2016, v. 263, n. 7, p. 1314, doi. 10.1007/s00415-016-8112-5
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- Publication type:
- Article
Nonsteroidal Anti‐inflammatory Use and LRRK2 Parkinson's Disease Penetrance.
- Published in:
- Movement Disorders, 2020, v. 35, n. 10, p. 1755, doi. 10.1002/mds.28189
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- Publication type:
- Article
Multicenter Transversal Two-Phase Study to Determine a National Prevalence of Epilepsy in Algeria.
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- Neuroepidemiology, 2012, v. 39, n. 2, p. 131, doi. 10.1159/000339637
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- Publication type:
- Article
NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study.
- Published in:
- Neurogenetics, 2021, v. 22, n. 4, p. 333, doi. 10.1007/s10048-021-00668-z
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- Publication type:
- Article
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
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- Neurogenetics, 2021, v. 22, n. 1, p. 71, doi. 10.1007/s10048-020-00633-2
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- Publication type:
- Article
Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families.
- Published in:
- Neurogenetics, 2007, v. 8, n. 4, p. 307, doi. 10.1007/s10048-007-0097-x
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- Publication type:
- Article
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.
- Published in:
- Neurogenetics, 2006, v. 7, n. 3, p. 149, doi. 10.1007/s10048-006-0044-2
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- Publication type:
- Article
Pantothenate kinase-associated neurodegeneration: Clinical description of 10 patients and identification of new mutations.
- Published in:
- Movement Disorders, 2011, v. 26, n. 9, p. 1777, doi. 10.1002/mds.23648
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- Publication type:
- Article
Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.
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- Journal of the Peripheral Nervous System, 2013, v. 18, n. 2, p. 113, doi. 10.1111/jns5.12026
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- Publication type:
- Article
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0180-3
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- Publication type:
- Article