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: 7867C>T; R2623*

PubMed Link: 33652783

Variant Present in the following documents:

• Main text
• genes-12-00344-s001.pdf
• genes-12-00344.pdf

View BVdb publication page

---

Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations.

Neurology. Genetics

Niemelä, Valter V; Salih, Ammar A; Solea, Daniela D; Lindvall, Björn B; Weinberg, Jan J; Miltenberger, Gabriel G; Granberg, Tobias T; Tzovla, Aikaterini A; Nordin, Love L; Danfors, Torsten T; Savitcheva, Irina I; Dahl, Niklas N; Paucar, Martin M

Publication Date: 2020-06

Variant appearance in text: VPS13A: 7867C>T; Arg2623X

PubMed Link: 32494755

Variant Present in the following documents:

• NG2019012112.pdf

View BVdb publication page

---

Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Nature Communications

Subramanian, Deepak N DN; Zethoven, Magnus M; McInerny, Simone S; Morgan, James A JA; Rowley, Simone M SM; Lee, Jue Er Amanda JEA; Li, Na N; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG

Publication Date: 2020-04-02

Variant appearance in text: VPS13A: 7867C>T; Arg2623Ter

PubMed Link: 32242007

Variant Present in the following documents:

• 41467_2020_15461_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

---

Identification of Novel KMT2B Variants in Chinese Dystonia Patients via Whole-Exome Sequencing.

Frontiers In Neurology

Ma, Jun J; Wang, Lin L; Yang, Yingmai Y; Li, Shanglin S; Wan, Xinhua X

Publication Date: 2019

Variant appearance in text: VPS13A: 7867C>T

PubMed Link: 31338059

Variant Present in the following documents:

• Main text
• fneur-10-00729.pdf

View BVdb publication page

---

Late Emergence of Parkinsonian Phenotype and Abnormal Dopamine Transporter Scan in Chorea-Acanthocytosis.

Movement Disorders Clinical Practice

Nagy, Anna A; Noyce, Alastair A; Velayos-Baeza, Antonio A; Lees, Andrew J AJ; Warner, Thomas T TT; Ling, Helen H

Publication Date: 2015-06

Variant appearance in text: VPS13A: 7867C>T; R2623X

PubMed Link: 30713892

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Nature Genetics

Jin, Sheng Chih SC; Homsy, Jason J; Zaidi, Samir S; Lu, Qiongshi Q; Morton, Sarah S; DePalma, Steven R SR; Zeng, Xue X; Qi, Hongjian H; Chang, Weni W; Sierant, Michael C MC; Hung, Wei-Chien WC; Haider, Shozeb S; Zhang, Junhui J; Knight, James J; Bjornson, Robert D RD; Castaldi, Christopher C; Tikhonoa, Irina R IR; Bilguvar, Kaya K; Mane, Shrikant M SM; Sanders, Stephan J SJ; Mital, Seema S; Russell, Mark W MW; Gaynor, J William JW; Deanfield, John J; Giardini, Alessandro A; Porter, George A GA; Srivastava, Deepak D; Lo, Cecelia W CW; Shen, Yufeng Y; Watkins, W Scott WS; Yandell, Mark M; Yost, H Joseph HJ; Tristani-Firouzi, Martin M; Newburger, Jane W JW; Roberts, Amy E AE; Kim, Richard R; Zhao, Hongyu H; Kaltman, Jonathan R JR; Goldmuntz, Elizabeth E; Chung, Wendy K WK; Seidman, Jonathan G JG; Gelb, Bruce D BD; Seidman, Christine E CE; Lifton, Richard P RP; Brueckner, Martina M

Publication Date: 2017-11

Variant appearance in text: VPS13A: R2623X

PubMed Link: 28991257

Variant Present in the following documents:

• NIHMS906719-supplement-supp_datasets.xlsx, sheet 7

View BVdb publication page

---

A new molecular link between defective autophagy and erythroid abnormalities in chorea-acanthocytosis.

Blood

Lupo, Francesca F; Tibaldi, Elena E; Matte, Alessandro A; Sharma, Alok K AK; Brunati, Anna Maria AM; Alper, Seth L SL; Zancanaro, Carlo C; Benati, Donatella D; Siciliano, Angela A; Bertoldi, Mariarita M; Zonta, Francesca F; Storch, Alexander A; Walker, Ruth H RH; Danek, Adrian A; Bader, Benedikt B; Hermann, Andreas A; De Franceschi, Lucia L

Publication Date: 2016-12-22

Variant appearance in text: VPS13A: 7867C>T

PubMed Link: 27742708

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred.

Archives Of Neurology

Velayos-Baeza, Antonio A; Holinski-Feder, Elke E; Neitzel, Birgit B; Bader, Benedikt B; Critchley, Edmund M R EM; Monaco, Anthony P AP; Danek, Adrian A; Walker, Ruth H RH

Publication Date: 2011-10

Variant appearance in text: VPS13A: 7867C>T; R2623X

PubMed Link: 21987550

Variant Present in the following documents:

• Main text

View BVdb publication page

---