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Orphanet Journal of Rare Diseases, ISSN 1750-1172, 06/2017, Volume 12, Issue 1, pp. 121 - 8
Journal Article
Brain, ISSN 0006-8950, 06/2015, Volume 138, Issue 6, pp. 1505 - 1517
Journal Article
Acta Paediatrica, ISSN 0803-5253, 02/2005, Volume 94, Issue 2, pp. 248 - 253
Journal Article
REVISTA DE NEUROLOGIA, ISSN 0210-0010, 11/2006, Volume 43, Issue 10, pp. 621 - 629
Journal Article
Acta Pædiatrica, ISSN 0803-5253, 02/2005, Volume 94, Issue 2, pp. 248 - 253
Aim: Non‐progressive ataxias with cerebellar hypoplasia are a rarely seen heterogeneous group of hereditary cerebellar ataxias. Method: Three sib pairs from... 
Cerebellar hypoplasia | congenital non‐progressive ataxic syndromes
Journal Article
Journal Article
Arquivos de Neuro-Psiquiatria, ISSN 0004-282X, 2000, Volume 58, Issue 3 B, pp. 897 - 900
Journal Article
Book Chapter
Brain and Development, ISSN 0387-7604, 1993, Volume 15, Issue 5, pp. 372 - 376
Journal Article
Pediatric Neurology Briefs, ISSN 1043-3155, 06/1996, Volume 10, Issue 6, pp. 47 - 48
A population-based study of 78 Swedish children with non-progressive ataxia is reported from the Department of Paediatrics, Malarsjukhuset, Eskilstuna;... 
Cerebral Palsy | Dyssynergia | Non-Progressive Ataxias
Journal Article
Revista de Neurologia, ISSN 0210-0010, 11/2006, Volume 43, Issue 10, pp. 621 - 629
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 12/2018, Volume 17, pp. 31 - 37
Glycogen storage disease type IV (GSD IV), caused by mutations, has a quite wide phenotypic variation. While the classic hepatic form and the... 
GSD | Functional analysis | Glycogen storage disease type IV | Epilepsy | Glycogenosis, glycogen branching enzyme 1 | NULL MUTATIONS | MUSCLE | BRANCHING ENZYME DEFICIENCY | VARIANT | POLYGLUCOSAN BODY DISEASE | GENE | GENETICS & HEREDITY | BODIES | SPECTRUM | NEONATAL FORM | BRAIN
Journal Article
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