BIOCHEMICAL APPROACHES FOR THE DIAGNOSIS AND TREATMENT OF LAFORA DISEASE [PDF]
, 2019 Glycogen is the sole carbohydrate storage molecule found in mammalian cells and plays an important role in cellular metabolism in nearly all tissues, including the brain.
Brewer, Mary Kathryn
core +1 more source
Late-onset vestibulocerebellar ataxia: clinical and genetic studies in a long follow-up series of 50 patients [PDF]
BACKGROUND: To describe the epidemiology, clinical features, degree of disability and genetic characteristics of a cohort of patients with a vestibulo-cerebellar ataxia of very late onset (LOVCA).
Alemany, Berta +21 more
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GSD Typ II und Typ IV: Biochemische und molekulargenetische Analyse bei Patienten mit Mangel an saurer α-Glukosidase bzw. mit Branchingenzymmangel [PDF]
, 2005 Die Glykogen-Speicherkrankheit (GSD) ist eine seltene Stoffwechselerkrankung, die in verschiedenen Ausprägungen (Typen) vorkommt. Im ersten Teil der Arbeit wird durch Messung der Enzymaktivität von saurer α-Glukosidase und der Enzymaktivität des ...
Lee, Hyun Kyung
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Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed [PDF]
, 2016 A McKenna +38 more
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Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for “double trouble” overlapping syndromes [PDF]
, 2013 core +1 more source
Leukodystrophies are a heterogeneous, often progressive group of disorders manifesting a wide range of symptoms and complications. Most of these disorders have historically had no etiologic or disease specific therapeutic approaches.
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Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort [PDF]
, 2016 Andrea Sprecher +9 more
core +1 more source
Novel GBE1 mutation in a Japanese family with adult polyglucosan body disease. [PDF]
Neurol Genet, 2017 Harigaya Y +9 more
europepmc +1 more source