Novel UCHL1 mutations reveal new insights into ubiquitin processing.
Rydning, Siri L; Backe, Paul H; Sousa, Mirta M L; Iqbal, Zafar; Øye, Ane-Marte; Sheng, Ying; Yang, Mingyi; Lin, Xiaolin; Slupphaug, Geir; Nordenmark, Tonje H; Vigeland, Magnus D; Bjørås, Magnar; Tallaksen, Chantal M; Selmer, Kaja K.
Hum Mol Genet
; 26(6): 1031-1040, 2017 03 15.
Artigo em Inglês | MEDLINE | ID: mdl-28007905
Primary and secondary ataxias.
Age-dependent gait abnormalities in mice lacking the Rnf170 gene linked to human autosomal-dominant sensory ataxia.
Molecular genetics of ubiquinone biosynthesis in animals.
POLG-Associated Ataxia Presenting as a Fragile X Tremor/Ataxia Phenocopy Syndrome.
The Last Laugh - Reversible myeloneuropathy induced by chronic nitrous oxide use.
Milestones in ataxia.
An ontology-aware integration of clinical models, terminologies and guidelines: an exploratory study of the Scale for the Assessment and Rating of Ataxia (SARA).
Gluten-related disorders: gluten ataxia.
Pediatric Ataxia: Focus on Chronic Disorders.
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.