CUBILLA M.A.; PAPAZOGLU MG; ASTEGGIANO C. G.

DYSTROGLYCANOPATHIES: GENETIC BASES OF MUSCULAR DYSTROPHIES DUE TO ALTERATION IN THE O-GLYCOSYLATION OF α-DYSTROGLYCAN

Journal of Inborn Errors of Metabolism and Screening; Año: 2023

CAINO S; M.A. CUBILLA; ALBA R; OBREGON MG; FANO V; GOMEZ A; ZECCHINI L; LAPUNZINA P.; AZA-CARMONA M; HEATH KE; ASTEGGIANO C.G

Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients

Genes; Año: 2022

G.M. PAPAZOGLU; S.M. SILVERA RUIZ; R. SALINAS; M.I. PEREIRA; M.A. CUBILLA; F. PESAOLA; S. GHIONE; N. RAMADÁN; I. MARTINEZ-DUNCKER; ASTEGGIANO CG

Platelet Membrane Glycoprofiling in a PMM2-CDG Patient

Journal of Inborn Errors of Metabolism & Screening; Lugar: Rio Grande do Sud; Año: 2021

MARNE SALAZAR; NORIKO MIYAKE; SEBASTI
AN SILVA; BENJAMÍN SOLAR; GABRIELA M. PAPAZOGLU; CARLA G. ASTEGGIANO; NAOMICHI MATSUMOTO

COG1-congenital disorders of glycosylation: Milder presentation and review

CLINICAL GENETICS; Lugar: Londres; Año: 2021

GABRIELA MAGALI PAPAZOGLU; MARISA CUBILLA; MARCELA PEREYRA; RAQUEL DODELSON DE KREMER; BELÉN PÉREZ; LUISA STURIALE; CARLA GABRIELA ASTEGGIANO

Mass Spectrometry Glycophenotype Characterization of ALG2-CDG Argentinean Patients with a New Genetic Variant in Homozygosis.

GLYCOCONJUGATE JOURNAL; Lugar: Berlin; Año: 2021

BOBBY G. NG; ERIK A. EKLUND; SERGEY A. SHIRYAEV; YIN Y. DONG; MARY ALICE ABBOTT; CARLA ASTEGGIANO; MICHAEL J. BAMSHAD......; HUDSON H. FREEZE

?Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis and treatment suggestions?

JOURNAL OF INHERITED METABOLIC DISEASE; Lugar: Berlin; Año: 2020

ASTEGGIANO, CARLA GABRIELA; PAPAZOGLU MAGALI ; BISTUÉ MILLÓN MARÍA BEATRIZ; PERALTA MARÍA FERNANDA; AZAR NYDIA BEATRIZ; SPÉCOLA NORMA; GUELBERT NORBERTO BERNARDO; SULDRUP NIELS; PEREYRA MARCELA; DODELSON DE KREMER, RAQUEL

Ten Years of Screening for Congenital Disorders of Glycosylation in Argentina: Case Studies and Pitfalls

PEDIATRIC RESEARCH; Lugar: The Woodlands, Texas; Año: 2018

MARIA BEATRÍZ BISTUÉ MILLÓN; CYNTIA A AMOROSI; MAGALÍ PAPAZOGLU; MYRIAM SIRAVEGNA; GRACIELA ELSO-BERBERIAN ; ASTEGGIANO CARLA GABRIELA

New insights on Na+/Ca2+ exchangers and protein glycosylation in human cells.

Trends in Cell and Molecular Biology; Año: 2017

BOBBY G. NG; CARLA G. ASTEGGIANO; MARTIN KIRCHER; KATI J. BUCKINGHAM; KIMIYO RAYMOND; DEBORAH A. NICKERSON; JAY SHENDURE; MICHEL J. BAMSHAD; MATTHIAS ENSSLEN; HUDSON H. FREEZE

Encephalophaty Caused by Novel Mutation in the CMP-Sialic Acid Transporter, SLC35A1

American journal of Medical Genetics: Part A; Año: 2017

DR. FRANCISCO CAMMARATA-SCALISI,; MÓNICA COZAR,DANIEL GRINBERG,; DRA. SUSANA BALCELLS; DRA. CARLA G. ASTEGGIANO...

Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses

ARCHIVOS ARGENTINOS DE PEDIATRIA; Lugar: Buenos Aires; Año: 2015

DELGADO M.A.; MARTINEZ-DOMENECH G.; SARRIÓN P.; URREIZTI R.; ZECCHINI L.; ROBLEDO H.H.; SEGURA F.; DODELSON DE KREMER R.; BALCELLS S. ; GRINBERG D. ; ASTEGGIANO C.G.

A broad spectrum of genomic changes in ext1/ext2-cdg patients with a severe phenotype of multiple osteocondromatosis in Latin American countries.

Scientific Reports; Lugar: Londres; Año: 2014

P. SARRION, A. SANGORRIN, R. URREIZTI, A. DELGADO, R. ARTUCH, L... CARLA G. ASTEGGIANO, S. BALCELLS & D. GRINBERG

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

Scientific Reports; Año: 2013 p. 1 - 7

DAISY RYMEN, ROMAIN PEANNE, M.B. BISTUÉ MILLON, CARLA ASTEGGIANO, GERT MATTHIJS1*

MAN1B1 Deficiency: An Unexpected CDG-II

PLOS GENETICS; Lugar: San Francisco; Año: 2013 p. 1 - 13

MARÍA ANDREA DELGADO; PATRICIA SARRIÓN; NYDIA AZAR; LORENA ZECCHINI; HECTOR HUGO ROBLEDO; FLORENCIO SEGURA; SUSANA BALCELLS; DANIEL GRINBERG; RAQUEL DODELSON DE KREMER; CARLA GABRIELA ASTEGGIANO.

A novel nonsense mutation of EXT1 gene in an Argentinian patient with Multiple Hereditary Exostoses.

JOURNAL OF BONE AND JOINT SURGERY; Año: 2012 vol. 94 p. 761 - 766

MONICA COZAR; ROSER URREIZTI; LAURA VILARINHO; CAROLA GROSSO; RAQUEL DODELSON DE KREMER; CARLA GABRIELA ASTEGGIANO; JAIME DALMAU; ANA MARIA GARCIA; MARIA ANTONIA VILASECA; DANIEL GRINBERG AND SUSANA BALCELLS

Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.

HUMAN MUTATION; Año: 2011 vol. 32 p. 835 - 842

M.B. BISTUE´ MILLO´ N, M.A. DELGADO, N.B. AZAR, N. GUELBERT, L. STURIALE, D. GAROZZO, G. MATTHIJS, J. JAEKEN, RAQUEL DODELSON DE KREMER, AND C.G. ASTEGGIANO

Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?

JOURNAL OF INHERITED METABOLIC DISEASE; Lugar: Berlín; Año: 2011 vol. June p. 65 - 72

IVY JENNES, ELENA PEDRINI, MONIA ZUNTINI, MARINA MORDENTI, SAHILA BALKASSMI, CARLA G. ASTEGGIANO, BRETT CASEY, BERT BAKKER, LUCA SANGIORGI AND WIM WUYTS.

Multiple Osteochondromas: mutation update and description of the Multiple Osteochondromas Mutation Database (MOdb).

HUMAN MUTATION; Año: 2009 vol. 30 p. 1 - 8

ROSER URREIZTI; CARLA ASTEGGIANO; MARIA ANTONIA VILASECA; EMILI CORBELLA; XAVIER PINTO; DANIEL GRINBERG AND SUSANA BALCELLS.

A CBS haplotype and a polymorphism at the MSR gene are associated with cardiovascular disease in a Spanish case-control study.

CLINICAL BIOCHEMISTRY; Año: 2007 vol. 40 p. 864 - 868

URREIZTI, R.; ASTEGGIANO, C.; COZAR, M.; FRANK, N.; VILASECA, MA.; GRINBERG, D.; BALCELLS, S.

Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations

HUMAN MUTATION; Año: 2006 vol. 27 p. 211 - 219

ROSER URREIZTI; CARLA ASTEGGIANO; MARTA BERMUDEZ; ALFONSO CÓRDOBA; [....] MARIA ANTONIA VILASECA; SUSANA BALCELLS; DANIEL GRINBERG

The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America

EUROPEAN JOURNAL OF HUMAN GENETICS; Año: 2006 vol. 54 p. 305 - 313

BERBERIAN, GRACIELA; ASTEGGIANO, CARLA; PHAM COUNG; ROBERTS, SHIRLEY AND BEAUGÉ, LUIS.

Mg ATP and phosphoinositides activate Na+/Ca2+ exchange in bovine brain vesicles. Comparation with other Na+/Ca2+ exchangers.

JOURNAL OF APPLIED PHYSIOLOGY; Año: 2002 p. 677 - 684

GRACIELA BERBERIAN, CARLA ASTEGGIANO, CUONG PHAM.

ATP stimulation of Na+/Ca2+ exchanger in bovine brain membrane vesicles is similar to that of the heart and independent of ion strength of assay or preparation.

ANNALS OF THE NEW YORK ACADEMY OF SCIENCES.; Año: 2002 vol. 976 p. 418 - 420

CARLA ASTEGGIANO, GRACIELA BERBERIAN AND LUIS BEAUGE

Phosphatidyl inositol-4,5-bisphosphate bound to bovine cardiac Na1/Ca21 exchanger displays a MgATP regulation similar to that of the exchange fluxes

EUROPEAN JOURNAL OF BIOCHEMISTRY; Año: 2001 vol. 268 p. 437 - 442

FRANK F1, SARTORI MJ, ASTEGGIANO C, LIN S, DE FABRO SP, FRETES RE

The effect of placental subfractions on Trypanosoma cruzi.

EXPERIMENTAL AND MOLECULAR PATHOLOGY.; Lugar: Amsterdam; Año: 2000 vol. 69 p. 144 - 151