Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: CACNB4[original query] |
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A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy. Neurobiology of disease 2008 Dec 32 (3): 349-54. Ohmori Iori, Ouchida Mamoru, Miki Takafumi, Mimaki Nobuyoshi, Kiyonaka Shigeki, Nishiki Teiichi, Tomizawa Kazuhito, Mori Yasuo, Matsui Hide |
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. Journal of the neurological sciences 2010 Apr 291 (1-2): 30-6. Mantuano Elide, Romano Silvia, Veneziano Liana, Gellera Cinzia, Castellotti Barbara, Caimi Sara, Testa Daniela, Estienne Margherita, Zorzi Giovanna, Bugiani Marianna, Rajabally Yusuf A, Barcina Maria J Garcìa, Servidei Serena, Panico Aurora, Frontali Marina, Mariotti Cateri |
A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
Breast cancer research : BCR 2013 15 (5): R81. Chung Suyoun, Low Siew-Kee, Zembutsu Hitoshi, Takahashi Atsushi, Kubo Michiaki, Sasa Mitsunori, Nakamura Yusu |
Genetic Variants Associated with Episodic Ataxia in Korea. Scientific reports 2017 10 7 (1): 13855. Choi Kwang-Dong, Kim Ji-Soo, Kim Hyo-Jung, Jung Ileok, Jeong Seong-Hae, Lee Seung-Han, Kim Dong Uk, Kim Sang-Ho, Choi Seo Young, Shin Jin-Hong, Kim Dae-Seong, Park Kyung-Pil, Kim Hyang-Sook, Choi Jae-Hw |
A Genome-Wide Association Study of Idiopathic Dilated Cardiomyopathy in African Americans.
Journal of personalized medicine 2018 Feb 8 (1): . Xu Huichun, Dorn Gerald W, Shetty Amol, Parihar Ankita, Dave Tushar, Robinson Shawn W, Gottlieb Stephen S, Donahue Mark P, Tomaselli Gordon F, Kraus William E, Mitchell Braxton D, Liggett Stephen |
Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy. Genetics in medicine : official journal of the American College of Medical Genetics 2019 5 21 (11): 2496-2503. Heyne Henrike O, Artomov Mykyta, Battke Florian, Bianchini Claudia, Smith Douglas R, Liebmann Nora, Tadigotla Vasisht, Stanley Christine M, Lal Dennis, Rehm Heidi, Lerche Holger, Daly Mark J, Helbig Ingo, Biskup Saskia, Weber Yvonne G, Lemke Johannes |
Whole-Exome Sequencing Identifies Novel SCN1A and CACNB4 Genes Mutations in the Cohort of Saudi Patients With Epilepsy. Frontiers in pediatrics 2022 7 10 919996. Naseer Muhammad Imran, Abdulkareem Angham Abdulrhman, Rasool Mahmood, Algahtani Hussein, Muthaffar Osama Yousef, Pushparaj Peter Nates |
Widening the spectrum of spinocerebellar ataxia autosomal recessive type 10 (SCAR10). BMJ case reports 2022 3 15 (3): . Ásbjörnsdóttir Birna, Henriksen Otto Mølby, Lindquist Suzanne, Møller Lisbeth Birk, Sidaros Annette, Nielsen Jørgen Er |
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- Page last updated:Apr 22, 2024
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