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Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 08/2016, Volume 87, Issue 8, pp. 897 - 905
Journal Article
Journal of Neuropathology & Experimental Neurology, ISSN 0022-3069, 01/2019, Volume 78, Issue 1, pp. 3 - 9
Abstract Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hypomyelinating leukodystrophy characterized by infantile or... 
Leuko-axonopathy | Hypomyelination | Leukodystrophy | TUBB4A | Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) | MUTATIONS | SPECTRUM | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY
Journal Article
Journal of Neuropathology & Experimental Neurology, ISSN 0022-3069, 01/2019, Volume 78, Issue 1, pp. 3 - 9
Journal Article
Clinical Genetics, ISSN 0009-9163, 05/2019, Volume 95, Issue 5, pp. 601 - 606
The GTPBP2 gene encodes a guanosine triphosphate (GTP)‐binding protein of unknown function. Biallelic loss‐of‐function variants in the GTPBP2 gene have been... 
epilepsy | microcephaly | iron | ectodermal dysplasia | substantia nigra | GTPBP2 | GENETICS & HEREDITY | Dysplasia | Brain research | Pregnant women | Genes | Epilepsy | Genomics | Family | Boycotts | Protein binding | Literature reviews | Neonates | GTP-binding protein | Microencephaly | Guanosine | Retina | Iron | Children | Peripheral neuropathy | Movement disorders
Journal Article
Journal Article
European journal of human genetics, ISSN 1018-4813, 2017, Volume 25, Issue 9, pp. 1049 - 1054
Journal Article
Neurology, ISSN 0028-3878, 08/2016, Volume 87, Issue 9_Supplement_2 Suppl 1, pp. S28 - S37
Journal Article
Pediatrics, ISSN 0031-4005, 09/2015, Volume 136, Issue 3, pp. e714 - e714
beta -propeller protein-associated neurodegeneration (BPAN) is a recently identified X-linked dominant form of neurodegeneration with brain iron accumulation... 
Journal Article
Canadian Journal of Neurological Sciences, ISSN 0317-1671, 11/2017, Volume 44, Issue 6, pp. 749 - 751
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2019, Volume 21, Issue 8, pp. 1797 - 1807
Purpose: Haploinsufficiency of USP7, located at chromosome 16p13.2, has recently been reported in seven individuals with neurodevelopmental phenotypes,... 
speech delay | white matter paucity | USP7 | neurodevelopment | corpus callosum thinning | ABNORMALITIES | HAUSP | CHILDREN | P53 | CORPUS-CALLOSUM | GENETICS & HEREDITY | MUTATIONS | PRADER-WILLI-SYNDROME
Journal Article