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searching for Batten disease 8 found (57 total)

HOOK1 (666 words) [view diff] exact match in snippet view article find links to article

et al. (2005). "Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway". Hum. Mol. Genet. 13 (23): 3017–27

ATP2A1 (1,315 words) [view diff] exact match in snippet view article find links to article

Callen DF, Baker E, Lane S, et al. (1992). "Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12". Am. J. Hum. Genet. 49 (6):

Ankyrin-3 (1,651 words) [view diff] exact match in snippet view article find links to article

Custer AW, Pearce DA (2005). "Elevation of Hook1 in a disease model of Batten disease does not affect a novel interaction between Ankyrin G and Hook1". Biochem

Jan Janský (310 words) [view diff] case mismatch in snippet view article find links to article

Williams, Ruth; Goebel, Hans (2011-03-10). The Neuronal Ceroid Lipofuscinoses (Batten Disease). OUP Oxford. ISBN 978-0-19-101558-8. Biography (in Czech)

Northern epilepsy syndrome (1,065 words) [view diff] exact match in snippet view article find links to article

CLN8 Krystyna E. Wiśniewski; Nanbert Zhong; Jeffrey C. Hall (2001). Batten disease: diagnosis, treatment, and research. Academic Press. p. 243. ISBN 978-0-12-017645-8

Cure Rare Disease (730 words) [view diff] exact match in snippet view article find links to article

created a custom drug for a girl with the neurodegenerative condition, Batten disease using antisense oligonucleotide (ASO) technology. Horgan's brother's

Priority review (3,432 words) [view diff] exact match in snippet view article find links to article

muscular dystrophy Marathon Pharmaceuticals Rare pediatric Brineura Batten disease BioMarin Pharmaceutical Tropical disease benznidazole Chagas disease

Major facilitator superfamily (5,029 words) [view diff] exact match in snippet view article find links to article

Gardiner RM, Mole SE (August 1997). "Spectrum of mutations in the Batten disease gene, CLN3". American Journal of Human Genetics. 61 (2): 310–6. doi:10