Publications:

Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement.

Genes

Vaisfeld, Alessandro A; Bruno, Giorgia G; Petracca, Martina M; Bentivoglio, Anna Rita AR; Servidei, Serenella S; Vita, Maria Gabriella MG; Bove, Francesco F; Straccia, Giulia G; Dato, Clemente C; Di Iorio, Giuseppe G; Sampaolo, Simone S; Peluso, Silvio S; De Rosa, Anna A; De Michele, Giuseppe G; Barghigiani, Melissa M; Galatolo, Daniele D; Tessa, Alessandra A; Santorelli, Filippo F; Chiurazzi, Pietro P; Melone, Mariarosa Anna Beatrice MAB

Publication Date: 2021-02-26

Variant appearance in text: VPS13A: R1471*

PubMed Link: 33652783

Variant Present in the following documents:

• Main text
• genes-12-00344.pdf

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A Case of Genetically Confirmed Chorea-Acanthocytosis: Brain [18F]FDG-PET and [18F]FP-CIT-PET Findings.

Annals Of Indian Academy Of Neurology

Lee, Jong-Mok JM; Hong, Chae Moon CM; Ryu, Ho-Sung HS

Publication Date: 2020

Variant appearance in text: VPS13A: 4411C>T; Arg1471Ter

PubMed Link: 32606538

Variant Present in the following documents:

• AIAN-23-369.pdf

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Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis.

Neurology. Genetics

Nishida, Yoshiaki Y; Nakamura, Masayuki M; Urata, Yuka Y; Kasamo, Kei K; Hiwatashi, Hanae H; Yokoyama, Izumi I; Mizobuchi, Masahiro M; Sakurai, Kotaro K; Osaki, Yasushi Y; Morita, Yukari Y; Watanabe, Masako M; Yoshida, Kenji K; Yamane, Kiyomi K; Miyakoshi, Natsuki N; Okiyama, Ryouichi R; Ueda, Takehiro T; Wakasugi, Noritaka N; Saitoh, Yuji Y; Sakamoto, Takashi T; Takahashi, Yuji Y; Shibano, Ken K; Tokuoka, Hideki H; Hara, Atsushi A; Monma, Kazunari K; Ogata, Katsuhisa K; Kakuda, Keita K; Mochizuki, Hideki H; Arai, Takeo T; Araki, Manabu M; Fujii, Takeshi T; Tsukita, Kazuto K; Sakamaki-Tsukita, Haruhi H; Sano, Akira A

Publication Date: 2019-06

Variant appearance in text: VPS13A: 4411C>T; R1471X

PubMed Link: 31192303

Variant Present in the following documents:

• Main text
• NG2018009811.pdf

View BVdb publication page