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Ataxia telangiectasia in Turkey: multisystem involvement of 91 patients

Acar, Manolya
Piskin, Sanem
Sutcu, Murat
Somer, Ayper
Salman, Nuran
Tatli, Burak
Akturk, Hacer
Altinoglu, Umut
Ozmen, Meral

Publication date

January 2017

DOI

10.1007/s12519-017-0011-z

Publisher

Springer Science and Business Media LLC

Journal

World Journal of Pediatrics

Abstract

Background: Ataxia telangiectasia (AT) is a genetically based multisystemic disorder. We aimed to make a comprehensive evaluation of multisystem involvement in AT by describing clinical features and outcome of 91 patients

Extracted data

Related items

[From gene to disease; ataxia telangiectasia]

Broeks, A.
Veer, L.J. van 't
Ottenheim, C.
Hiel, J.A.P.
Kleijer, W.J.
Weemaes, C.M.R.

January 2003

Ataxia telangiectasia (AT) is an autosomal recessive disorder characterised by cerebellar ataxia, te...

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

Schon, Katherine
van Os, Nienke JH
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January 2013

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Broeks, A.
Veer, L.J. van 't
Ottenheim, C.
Hiel, J.A.P.
Kleijer, W.J.
Weemaes, C.M.R.

January 2003

Ataxia telangiectasia (AT) is an autosomal recessive disorder characterised by cerebellar ataxia, te...

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

Schon, Katherine
van Os, Nienke JH
Oscroft, Nicholas
Baxendale, Helen
Scoffings, Daniel
Ray, Julian
Suri, Mohnish
Whitehouse, William P
Mehta, Puja R
Everett, Natasha
Bottolo, Leonardo
van de Warrenburg, Bart P
Byrd, Philip J
Weemaes, Corry
Willemsen, Michel A
Tischkowitz, Marc
Taylor, A Malcolm
Hensiek, Anke E

February 2019

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V.I. Fomichev

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Ataxia-telangiectasia is a rare genetic disorder with multisystem manifestations. Major symptoms inc...

Ataxia-telengiectasia: A case report

Uysalol, Metin
Pasli, Ezgi
Eker, Nursah
Incioglu, Ahmet

January 2007

Ataxia-telengiectasia (AT) is a rare multisystemic autosomal-recessive disease characterized with oc...

Ataxia-Telangiectasia Clinical and Laboratory Features: Single Center Results

Sasihuseyinoglu A.S.
Yllmaz M.
Bisgin A.
Dogruel D.
Altintas D.U.
Duyuler G.
Serbes M.

January 2018

Ataxia-telangiectasia (A-T) is characterized by progressive cerebellar ataxia, oculocutaneous telang...

Ataxia-telangiectasia: recommendations for multidisciplinary treatment

Os, N.J.H. van
Haaxma, C.A.
Flier, M. van der
Merkus, P.J.F.M.
Deuren, M. van
Groot, I.J.M. de
Loeffen, J.L.
Warrenburg, B.P.C. van de
Willemsen, M.A.A.P.

January 2017

Ataxia-telangiectasia is a rare, neurodegenerative, and multisystem disease, characterized by cerebe...

Case Reports A case of ataxia telangiectasia

S Jeyabalan
Savithri Dias

August 2014

Ataxia telangiectasia (AT) is an autosomal recessive, complex, multisystem disorder characterized by...

Ataxia telangiectasia: A case report and review of the literature

Yaman, Mehmet
Oruç, Serdar
Acar, Murat
Demirkıran, M. Kemal

January 2005

Ataksi Telenjiektazi nadir görülen, otozomal resesif geçişli nörodejeneratif bir hastalıktır. Klini...

Ataxia-telangiectasia : epidemiological survey in latin america

Dantas, Ellen Oliveira
Loekmanwidjaja, Jessica
Mazzucchelli, Juliana Themudo Lessa
Aranda, Carolina S.
Serrano, Maria Edith González
Bezrodnik, Liliana
Moreira, Ileana
Ferreira, Janaira Fernandes Severo
Dantas, Vera M.
Sales, Valéria Soraya de Farias
Fernandez, Carmen C.
Vilela, Maria Marluce dos Santos
Mota, Isabella Prado
Franco, Jose
Orellana, Julio C.
Kokron, Cristina M.
Regairaz, Lorena
Cabanillas, Diana
Costa-Carvalho, Beatriz Tavares

March 2020

Ataxia-telangiectasia (AT) is a rare neurodegenerative disorder characterized by ataxia, telangiecta...

Ataxia telangiectasia and secondary diseases

PATIROĞLU, Türkan
Unal, Ekrem
Baz, Hüseyin
GUNGOR, Hatice Eke

March 2012

Aim: Ataxia telangiectasia is a rare autosomal recessive neurodegenerative disorder. In this retrosp...

ATAXIA-TELANGIECTASIA

John Kerrison, MD, Retina Consultants of Charleston

Ataxia-telangiectasia (A-T) is characterized byoculocutaneous telangiectasia, progressive cerebellar...

[Ataxia telangiectasia. Diagnosis and follow-up in 4 cases]

Monterrubio Ledezma, C.E.
Corona Rivera, A.
Corona Rivera, J.R.
Rodríguez Casillas, L.J.
Hernández Rocha, J.
Barros Nunez, P.
Bobadilla Morales L

January 2013

Ataxia telangiectasia (AT) is a chromosomal instability syndrome with autosomal recessive inheritanc...

Ataxia telangiectasia. Diagnosis and monitoring in a series of four cases [Ataxia telangiectasia. Diagnóstico y seguimiento en una serie de cuatro casos]

Monterrubio Ledezma, C.E.
Corona Rivera, A.
Corona Rivera, J.R.
Rodriguez Casillas, L.J.
Rocha, J.H.
Nunez, P.B.
Bobadilla Morales, L.

January 2013

Ataxia telangiectasia (AT) is a chromosomal instability syndrome with autosomal recessive inheritanc...

Ataxia telangiectasia: a review

Cynthia Rothblum-Oviatt
Jennifer Wright
Maureen A. Lefton-Greif
Sharon A. McGrath-Morrow
Thomas O. Crawford
Howard M. Lederman

November 2016

Abstract Definition of the disease Ataxia telangiectasia (A-T) is an autosomal recessive disorder pr...

Clinical and Laboratory Features of Ataxia Telangiectasia

J Gordon Millichap

August 2007

Clinical and immunological features of ataxia-telangiectasia (AT) in 104 Iranian patients were evalu...

[From gene to disease; ataxia telangiectasia]

Broeks, A.
Veer, L.J. van 't
Ottenheim, C.
Hiel, J.A.P.
Kleijer, W.J.
Weemaes, C.M.R.

January 2003

Ataxia telangiectasia (AT) is an autosomal recessive disorder characterised by cerebellar ataxia, te...

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

Schon, Katherine
van Os, Nienke JH
Oscroft, Nicholas
Baxendale, Helen
Scoffings, Daniel
Ray, Julian
Suri, Mohnish
Whitehouse, William P
Mehta, Puja R
Everett, Natasha
Bottolo, Leonardo
van de Warrenburg, Bart P
Byrd, Philip J
Weemaes, Corry
Willemsen, Michel A
Tischkowitz, Marc
Taylor, A Malcolm
Hensiek, Anke E

February 2019

Abstract Objective Variant Ataxia-Telangiectasia is caused by mutations that allow some retained AT...

ATAXIA-TELANGIECTASIA (LOUIS-BAR SYNDROME): REPORT OF A CASE

O.Y. Bogacheva
V.I. Fomichev

December 2019

Ataxia-telangiectasia is a rare genetic disorder with multisystem manifestations. Major symptoms inc...