Publications:

Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.

Frontiers In Immunology

Moeini Shad, Tannaz T; Yazdani, Reza R; Amirifar, Parisa P; Delavari, Samaneh S; Heidarzadeh Arani, Marzieh M; Mahdaviani, Seyed Alireza SA; Sadeghi-Shabestari, Mahnaz M; Aghamohammadi, Asghar A; Rezaei, Nima N; Abolhassani, Hassan H

Publication Date: 2021

Variant appearance in text: ATM: Leu970Arg

PubMed Link: 35095854

Variant Present in the following documents:

• DataSheet_1.pdf

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Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.

Annals Of Neurology

Schon, Katherine K; van Os, Nienke J H NJH; Oscroft, Nicholas N; Baxendale, Helen H; Scoffings, Daniel D; Ray, Julian J; Suri, Mohnish M; Whitehouse, William P WP; Mehta, Puja R PR; Everett, Natasha N; Bottolo, Leonardo L; van de Warrenburg, Bart P BP; Byrd, Philip J PJ; Weemaes, Corry C; Willemsen, Michel A MA; Tischkowitz, Marc M; Taylor, A Malcolm AM; Hensiek, Anke E AE

Publication Date: 2019-02

Variant appearance in text: ATM: 2909T>G; Leu970Arg

PubMed Link: 30549301

Variant Present in the following documents:

• ANA-85-170-s001.pdf

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Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.

British Journal Of Cancer

Reiman, A A; Srinivasan, V V; Barone, G G; Last, J I JI; Wootton, L L LL; Davies, E G EG; Verhagen, M M MM; Willemsen, M A MA; Weemaes, C M CM; Byrd, P J PJ; Izatt, L L; Easton, D F DF; Thompson, D J DJ; Taylor, A M AM

Publication Date: 2011-08-09

Variant appearance in text: ATM: 2909T>G; Leu970Arg

PubMed Link: 21792198

Variant Present in the following documents:

View BVdb publication page