Human Genome Epidemiology Literature Finder
Records 1 - 9 (of 9 Records) |
Query Trace: JPH3[original query] |
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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 |
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 |
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 |
Association of gene polymorphisms with chronic kidney disease in Japanese individuals. International journal of molecular medicine 2009 Oct 24 (4): 539-47. Yoshida Tetsuro, Kato Kimihiko, Yokoi Kiyoshi, Oguri Mitsutoshi, Watanabe Sachiro, Metoki Norifumi, Yoshida Hidemi, Satoh Kei, Aoyagi Yukitoshi, Nozawa Yoshinori, Yamada Yoshi |
GWAS of 972 autologous stem cell recipients with multiple myeloma identifies 11 genetic variants associated with chemotherapy-induced oral mucositis. Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer 2015 Mar 23 (3): 841-9. Coleman Elizabeth Ann, Lee Jeannette Y, Erickson Stephen W, Goodwin Julia A, Sanathkumar Naveen, Raj Vinay R, Zhou Daohong, McKelvey Kent D, Apewokin Senu, Stephens Owen, Enderlin Carol A, Vangsted Annette Juul, Reed Patty J, Anaissie Elias |
Genome-wide Association Study of Autism Spectrum Disorder in the East Asian Populations.
Autism research : official journal of the International Society for Autism Research 2015 Aug . Liu Xiaoxi, Shimada Takafumi, Otowa Takeshi, Wu Yu-Yu, Kawamura Yoshiya, Tochigi Mamoru, Iwata Yasuhide, Umekage Tadashi, Toyota Tomoko, Maekawa Motoko, Iwayama Yoshimi, Suzuki Katsuaki, Kakiuchi Chihiro, Kuwabara Hitoshi, Kano Yukiko, Nishida Hisami, Sugiyama Toshiro, Kato Nobumasa, Chen Chia-Hsiang, Mori Norio, Yamada Kazuo, Yoshikawa Takeo, Kasai Kiyoto, Tokunaga Katsushi, Sasaki Tsukasa, Gau Susan Shur-F |
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 |
Clinical and Molecular Findings of Intermediate Allele Carriers in the HTT Gene from the Mexican Mestizo Population. Neuro-degenerative diseases 2022 Aug . Ramírez-García Miguel Ángel, Dávila-Ortiz de Montellano David José, Martínez-Ruano Leticia, Ochoa-Morales Adriana, Romero-Hidalgo Sandra, Zenteno Juan Carlos, Yescas-Gómez Pet |
Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder. Movement disorders : official journal of the Movement Disorder Society 2022 10 38 (1): 155-157. Steel Dora, Vezyroglou Aikaterini, Barwick Katy, Smith Martin, Vogt Julie, Gibbon Frances M, Cross J Helen, Kurian Manju |
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- Page last updated:Mar 25, 2024
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