Novel Variants in ATM Causing Mild Ataxia-Telangiectasia: From Benchside to Bedside and Back Again

Autores
Perez Maturo, Josefina; Gonzalez Cid, Marcela Beatriz; Zavala, Lucía; Rodríguez Quiroga, Sergio Alejandro; Kauffman, Marcelo Andres
Año de publicación
2020
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Ataxia-telangiectasia (A-T) is one of the most frequent recessive ataxias worldwide. The disease results from biallelic pathogenic variants in ATM gene, coding for a high-molecular-weight protein kinase involved in double-strand breaks (DSBs) repair. It is usually characterized by childhood-onset cerebellar ataxia, oculocutaneous telangiectasia and early mortality [1]. Its molecular diagnosis is challenging because of the unusually large sequence of ATM, the extensive allelic heterogeneity with more than 600 reported pathogenic variants[2] and the increasing recognition...
Fil: Perez Maturo, Josefina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Universidad Austral. Facultad de Ciencias Biomédicas. Instituto de Investigaciones en Medicina Traslacional. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones en Medicina Traslacional; Argentina
Fil: Gonzalez Cid, Marcela Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
Fil: Zavala, Lucía. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Rodríguez Quiroga, Sergio Alejandro. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; Argentina
Fil: Kauffman, Marcelo Andres. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Materia
ATAXIA TELANGIECTASIA
AUTOSOMAL RECESSIVE ATAXIAS
MILD PHENOTYPE
NGS ATAXIA PANEL
CEREBELLAR ATAXIA
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/160852
Acceder
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network_name_str CONICET Digital (CONICET)
spelling Novel Variants in ATM Causing Mild Ataxia-Telangiectasia: From Benchside to Bedside and Back AgainPerez Maturo, JosefinaGonzalez Cid, Marcela BeatrizZavala, LucíaRodríguez Quiroga, Sergio AlejandroKauffman, Marcelo AndresATAXIA TELANGIECTASIAAUTOSOMAL RECESSIVE ATAXIASMILD PHENOTYPENGS ATAXIA PANELCEREBELLAR ATAXIAhttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Ataxia-telangiectasia (A-T) is one of the most frequent recessive ataxias worldwide. The disease results from biallelic pathogenic variants in ATM gene, coding for a high-molecular-weight protein kinase involved in double-strand breaks (DSBs) repair. It is usually characterized by childhood-onset cerebellar ataxia, oculocutaneous telangiectasia and early mortality [1]. Its molecular diagnosis is challenging because of the unusually large sequence of ATM, the extensive allelic heterogeneity with more than 600 reported pathogenic variants[2] and the increasing recognition...Fil: Perez Maturo, Josefina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Universidad Austral. Facultad de Ciencias Biomédicas. Instituto de Investigaciones en Medicina Traslacional. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones en Medicina Traslacional; ArgentinaFil: Gonzalez Cid, Marcela Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; ArgentinaFil: Zavala, Lucía. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Rodríguez Quiroga, Sergio Alejandro. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; ArgentinaFil: Kauffman, Marcelo Andres. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaWiley Blackwell Publishing, Inc2020-07info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/160852Perez Maturo, Josefina; Gonzalez Cid, Marcela Beatriz; Zavala, Lucía; Rodríguez Quiroga, Sergio Alejandro; Kauffman, Marcelo Andres; Novel Variants in ATM Causing Mild Ataxia-Telangiectasia: From Benchside to Bedside and Back Again; Wiley Blackwell Publishing, Inc; Movement Disorders; 7; 6; 7-2020; 727-7292330-1619CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1002/mdc3.13013info:eu-repo/semantics/altIdentifier/doi/10.1002/mdc3.13013info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T10:03:28Zoai:ri.conicet.gov.ar:11336/160852instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-03 10:03:28.502CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Novel Variants in ATM Causing Mild Ataxia-Telangiectasia: From Benchside to Bedside and Back Again
title Novel Variants in ATM Causing Mild Ataxia-Telangiectasia: From Benchside to Bedside and Back Again
spellingShingle Novel Variants in ATM Causing Mild Ataxia-Telangiectasia: From Benchside to Bedside and Back Again
Perez Maturo, Josefina
ATAXIA TELANGIECTASIA
AUTOSOMAL RECESSIVE ATAXIAS
MILD PHENOTYPE
NGS ATAXIA PANEL
CEREBELLAR ATAXIA
title_short Novel Variants in ATM Causing Mild Ataxia-Telangiectasia: From Benchside to Bedside and Back Again
title_full Novel Variants in ATM Causing Mild Ataxia-Telangiectasia: From Benchside to Bedside and Back Again
title_fullStr Novel Variants in ATM Causing Mild Ataxia-Telangiectasia: From Benchside to Bedside and Back Again
title_full_unstemmed Novel Variants in ATM Causing Mild Ataxia-Telangiectasia: From Benchside to Bedside and Back Again
title_sort Novel Variants in ATM Causing Mild Ataxia-Telangiectasia: From Benchside to Bedside and Back Again
dc.creator.none.fl_str_mv Perez Maturo, Josefina
Gonzalez Cid, Marcela Beatriz
Zavala, Lucía
Rodríguez Quiroga, Sergio Alejandro
Kauffman, Marcelo Andres
author Perez Maturo, Josefina
author_facet Perez Maturo, Josefina
Gonzalez Cid, Marcela Beatriz
Zavala, Lucía
Rodríguez Quiroga, Sergio Alejandro
Kauffman, Marcelo Andres
author_role author
author2 Gonzalez Cid, Marcela Beatriz
Zavala, Lucía
Rodríguez Quiroga, Sergio Alejandro
Kauffman, Marcelo Andres
author2_role author
author
author
author
dc.subject.none.fl_str_mv ATAXIA TELANGIECTASIA
AUTOSOMAL RECESSIVE ATAXIAS
MILD PHENOTYPE
NGS ATAXIA PANEL
CEREBELLAR ATAXIA
topic ATAXIA TELANGIECTASIA
AUTOSOMAL RECESSIVE ATAXIAS
MILD PHENOTYPE
NGS ATAXIA PANEL
CEREBELLAR ATAXIA
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Ataxia-telangiectasia (A-T) is one of the most frequent recessive ataxias worldwide. The disease results from biallelic pathogenic variants in ATM gene, coding for a high-molecular-weight protein kinase involved in double-strand breaks (DSBs) repair. It is usually characterized by childhood-onset cerebellar ataxia, oculocutaneous telangiectasia and early mortality [1]. Its molecular diagnosis is challenging because of the unusually large sequence of ATM, the extensive allelic heterogeneity with more than 600 reported pathogenic variants[2] and the increasing recognition...
Fil: Perez Maturo, Josefina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Universidad Austral. Facultad de Ciencias Biomédicas. Instituto de Investigaciones en Medicina Traslacional. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones en Medicina Traslacional; Argentina
Fil: Gonzalez Cid, Marcela Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
Fil: Zavala, Lucía. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Rodríguez Quiroga, Sergio Alejandro. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; Argentina
Fil: Kauffman, Marcelo Andres. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
description Ataxia-telangiectasia (A-T) is one of the most frequent recessive ataxias worldwide. The disease results from biallelic pathogenic variants in ATM gene, coding for a high-molecular-weight protein kinase involved in double-strand breaks (DSBs) repair. It is usually characterized by childhood-onset cerebellar ataxia, oculocutaneous telangiectasia and early mortality [1]. Its molecular diagnosis is challenging because of the unusually large sequence of ATM, the extensive allelic heterogeneity with more than 600 reported pathogenic variants[2] and the increasing recognition...
publishDate 2020
dc.date.none.fl_str_mv 2020-07
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/160852
Perez Maturo, Josefina; Gonzalez Cid, Marcela Beatriz; Zavala, Lucía; Rodríguez Quiroga, Sergio Alejandro; Kauffman, Marcelo Andres; Novel Variants in ATM Causing Mild Ataxia-Telangiectasia: From Benchside to Bedside and Back Again; Wiley Blackwell Publishing, Inc; Movement Disorders; 7; 6; 7-2020; 727-729
2330-1619
CONICET Digital
CONICET
url http://hdl.handle.net/11336/160852
identifier_str_mv Perez Maturo, Josefina; Gonzalez Cid, Marcela Beatriz; Zavala, Lucía; Rodríguez Quiroga, Sergio Alejandro; Kauffman, Marcelo Andres; Novel Variants in ATM Causing Mild Ataxia-Telangiectasia: From Benchside to Bedside and Back Again; Wiley Blackwell Publishing, Inc; Movement Disorders; 7; 6; 7-2020; 727-729
2330-1619
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1002/mdc3.13013
info:eu-repo/semantics/altIdentifier/doi/10.1002/mdc3.13013
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Wiley Blackwell Publishing, Inc
publisher.none.fl_str_mv Wiley Blackwell Publishing, Inc
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
_version_ 1842269801503784960
score 13.13397

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