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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, 10/2012, Volume 159B, Issue 7, pp. 760 - 771
Journal Article
Epilepsia, ISSN 0013-9580, 05/2019, Volume 60, Issue 5, pp. 830 - 844
Journal Article
Clinical Neurophysiology, ISSN 1388-2457, 07/2019, Volume 130, Issue 7, pp. e91 - e92
During the last few years, the correlation between mitochondrial disorders and autoimmune diseases has been reported. Autoimmune polyneuropathies were... 
Autoimmunity | Genetic research | Genetic aspects | Mitochondrial DNA | Polyneuropathies | Pediatric neurology
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 06/2013, Volume 21, Issue 6, pp. 620 - 625
Journal Article
Journal of Applied Genetics, ISSN 1234-1983, 8/2016, Volume 57, Issue 3, pp. 349 - 355
Friedreich ataxia (FRDA) is the most common hereditary ataxia. It is an autosomal recessive disorder caused by mutations of the FXN gene, mainly the biallelic... 
Life Sciences | Human Genetics | Molecular diagnostics | Clinical heterogeneity | Microbial Genetics and Genomics | Deletions | Friedreich ataxia | FXN gene | Dynamic mutation | Plant Genetics & Genomics | Animal Genetics and Genomics | FRATAXIN | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | FXN | DELETION
Journal Article
Folia Neuropathologica, ISSN 1641-4640, 2016, Volume 54, Issue 1, pp. 59 - 65
Pelizaeus-Merzbacher disease (PMD) is X-linked hypomyelinating leukodystrophy caused by mutations of the PLP1 gene, which codes the proteolipid protein 1. The... 
Pelizaeus-Merzbacher disease | PLP1 gene mutations | Hypomyelination | Dysmyelination | Leukodystrophy | MRI | PLP1 GENE | DISORDERS | leukodystrophy | hypomyelination | dysmyelination | MUTATIONS | PATHOLOGY | NEUROSCIENCES
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2010, Volume 87, Issue 6, pp. 857 - 865
Journal Article
Pediatria Polska, ISSN 0031-3939, 2009, Volume 84, Issue 1, pp. 13 - 19
Ataksja Friedreicha (FRDA, Friedreich ataxia), jest wieloukładową chorobą neurodegeneracyjną, dziedziczoną jako cecha autosomalna recesywna. Podłoże... 
LR-PCR | ataksja Friedreicha | gen FXN | dynamic mutation | diagnostyka molekularna | TP-PCR | Friedreich ataxia | FXN gene | mutacja dynamiczna | molecular analysis | Molecular analysis | Dynamic mutation
Journal Article
Journal of Applied Genetics, ISSN 1234-1983, 2/2014, Volume 55, Issue 1, pp. 125 - 144
Journal Article
Folia Neuropathologica, ISSN 1641-4640, 01/2014, Volume 52, Issue 4, pp. 472 - 472
Epilepsy and mental retardation limited to females (EFMR), caused by mutations in the X-linked PCDH19 gene, is classified as an early infantile encephalopathy.... 
Journal Article
Wiadomości lekarskie (Warsaw, Poland : 1960), ISSN 0043-5147, 2006, Volume 59, Issue 5-6, pp. 416 - 418
Journal Article
Wiadomosci lekarskie (Warsaw, Poland : 1960), ISSN 0043-5147, 2006, Volume 59, Issue 5-6, pp. 416 - 418
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 12/2010, Volume 87, Issue 6, p. 857
Morpholino antisense knockdowns of ywhag and hip1 in zebrafish is explored to understand the contribution of Huntingtin-interacting protein 1 (HIP1) genes... 
Control | Genetic aspects | Zebra fish | Organic mental disorder
Journal Article
Medycyna wieku rozwojowego, 10/2013, Volume 17, Issue 4, p. 293
The Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive hypomyelination disorder caused by mutations of the proteolipid protein1 gene (PLP1). There... 
Young Adult | Pelizaeus-Merzbacher Disease - genetics | Myelin Proteolipid Protein - genetics | Pedigree | Humans | Adolescent | Child, Preschool | Adult | Infant | Male | Mutation | Child
Journal Article
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