Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 4 (of 4 Records) |
Query Trace: Chorea-acanthocytosis[original query] |
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Comprehensive analysis of the genes responsible for neuroacanthocytosis in mood disorder and schizophrenia. Neuroscience research 2010 Dec . Shimo H, Nakamura M, Tomiyasu A, Ichiba M, Ueno SI, Sano A |
Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic. PloS one 2015 10 (4): e0125861. Schiessl-Weyer Jasmin, Roa Pedro, Laccone Franco, Kluge Britta, Tichy Alexander, De Almeida Ribeiro Euripedes, Prohaska Rainer, Stoeter Peter, Siegl Claudia, Salzer Ulri |
Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis. Neurology. Genetics 2019 6 5 (3): e332. Nishida Yoshiaki, Nakamura Masayuki, Urata Yuka, Kasamo Kei, Hiwatashi Hanae, Yokoyama Izumi, Mizobuchi Masahiro, Sakurai Kotaro, Osaki Yasushi, Morita Yukari, Watanabe Masako, Yoshida Kenji, Yamane Kiyomi, Miyakoshi Natsuki, Okiyama Ryouichi, Ueda Takehiro, Wakasugi Noritaka, Saitoh Yuji, Sakamoto Takashi, Takahashi Yuji, Shibano Ken, Tokuoka Hideki, Hara Atsushi, Monma Kazunari, Ogata Katsuhisa, Kakuda Keita, Mochizuki Hideki, Arai Takeo, Araki Manabu, Fujii Takeshi, Tsukita Kazuto, Sakamaki-Tsukita Haruhi, Sano Aki |
Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations. Neurology. Genetics 2020 6 6 (3): e426. Niemelä Valter, Salih Ammar, Solea Daniela, Lindvall Björn, Weinberg Jan, Miltenberger Gabriel, Granberg Tobias, Tzovla Aikaterini, Nordin Love, Danfors Torsten, Savitcheva Irina, Dahl Niklas, Paucar Mart |
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