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Public Health Genomics and Precision Health Knowledge Base (v6.2)

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HuGE Navigator|HuGE Literature Finder|PHGKB

HuGE Literature Finder

Records 1-6

Query Trace: Neurodegenerative Diseases and JPH3[orginal query]

A study of Huntington disease-like syndromes in black South African patients reveals a single SCA2 mutation and a unique distribution of normal alleles across five repeat loci. Journal of the neurological sciences 2018 Jul 390 200-204. Baine Fiona K, Peerbhai Nabeelah, Krause Aman Similar articles in PubMed
Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2015 Oct 168 (7): 573-85. Krause Amanda, Mitchell Claire, Essop Fahmida, Tager Susan, Temlett James, Stevanin Giovanni, Ross Christopher, Rudnicki Dobrila, Margolis Russe Similar articles in PubMed
Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype. Journal of human genetics 2006 51 (8): 645-51. Costa Maria do Carmo, Teixeira-Castro Andreia, Constante Marco, Magalhães Marina, Magalhães Paula, Cerqueira Joana, Vale José, Passão Vitorina, Barbosa Célia, Robalo Conceição, Coutinho Paula, Barros José, Santos Manuela M, Sequeiros Jorge, Maciel Patríc Similar articles in PubMed
JP-3 gene polymorphism in a healthy population of Serbia and Montenegro. Journal of genetics 2005 Apr 84 (1): 69-71. Keckarevi? M, Savi? D, Romac Similar articles in PubMed
Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. Brain : a journal of neurology 2003 Jul 126 (Pt 7): 1599-603. Stevanin Giovanni, Fujigasaki Hiroto, Lebre Anne-Sophie, Camuzat Agnes, Jeannequin Cecile, Dode Catherine, Takahashi Junko, San Chankranira, Bellance Robert, Brice Alexis, Durr Alexand Similar articles in PubMed
Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene. Neurologia i neurochirurgia polska 0 42 (3): 203-9. Su?ek-Piatkowska Anna, Krysa Wioletta, Zdzienicka Elzbieta, Szirkowiec Walentyna, Hoffman-Zacharska Dorota, Rajkiewicz Marta, Fidzia?ska Elzbieta, Kowalska Grazyna, Zaremba Jac Similar articles in PubMed

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