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Peña-Longobardo, Luz María [Author]; Aranda-Reneo, Isaac [Author]; Oliva-Moreno, Juan [Author]; Litzkendorf, Svenja [Author]; Durand-Zaleski, Isabelle [Author]; Tizzano, Eduardo [Author]; López-Bastida, Julio [Author]

The economic impact and health-related quality of life of spinal muscular atrophy. An analysis across europe

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Hannover: Gottfried Wilhelm Leibniz Universität Hannover, 2020 ; Hannover: Technische Informationsbibliothek (TIB), 2020

Published in: International Journal of Environmental Research and Public Health ; 17 (2020), Nr. 16, 5640
Peña-Longobardo, Luz María [Author]; Aranda-Reneo, Isaac [Author]; Oliva-Moreno, Juan [Author]; Litzkendorf, Svenja [Author]; Durand-Zaleski, Isabelle [Author]; Tizzano, Eduardo [Author]; López-Bastida, Julio [Author]

The economic impact and health-related quality of life of spinal muscular atrophy. An analysis across europe - [published Version]

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Basel : MDPI, 2020

Published in: International Journal of Environmental Research and Public Health 17 (2020), Nr. 16 ; International Journal of Environmental Research and Public Health
Finkel, Richard S. [Author]; Day, John W. [Author]; DeVivo, Darryl C. [Author]; Kirschner, Janbernd [Author]; Mercuri, Eugenio [Author]; Muntoni, Francesco [Author]; Shieh, Perry B. [Author]; Tizzano, Eduardo F. [Author]; Desguerre, Isabelle [Author]; Quijano‐Roy, Susana [Author]; Saito, Kayoko [Author]; Droege, Marcus [Author]; Dabbous, Omar [Author]; Khan, Farid [Author]; Renault, Lydie [Author]; Anderson, Frederick A. [Author]; Servais, Laurent [Author]

RESTORE: a prospective multinational registry of patients with genetically confirmed spinal muscular atrophy - rationale and study design

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Amsterdam: IOS Press, 2020

Published in: Journal of neuromuscular diseases ; 7, 2 (2020), 145-152
Tizzano, Eduardo F.

La atrofia muscular espinal en el nuevo escenario terapéutico

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Elsevier BV, 2018

Published in: Revista Médica Clínica Las Condes, 29 (2018) 5, Seite 512-520
Tizzano, Eduardo F.; Buchwald, Manuel

Recent advances in cystic fibrosis research

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Elsevier BV, 1993

Published in: The Journal of Pediatrics, 122 (1993) 6, Seite 985-988
Tizzano, Eduardo F.; Buchwald, Manuel

Cystic fibrosis: Beyond the gene to therapy

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Elsevier BV, 1992

Published in: The Journal of Pediatrics, 120 (1992) 3, Seite 337-349
Serra-Juhe, Clara; Tizzano, Eduardo F.

Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors

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Springer Science and Business Media LLC, 2019

Published in: European Journal of Human Genetics, 27 (2019) 12, Seite 1774-1782
Tizzano, Eduardo F.; Cabot, Carmen; Baiget, Montserrat

Cell-Specific Survival Motor Neuron Gene Expression during Human Development of the Central Nervous System

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Elsevier BV, 1998

Published in: The American Journal of Pathology, 153 (1998) 2, Seite 355-361
Tizzano, Eduardo F.; Chitayat, David; Buchwald, Manuel

Cell-specific localization of CFTR mRNA shows developmentally regulated expression in human fetal tissues

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Oxford University Press (OUP), 1993

Published in: Human Molecular Genetics, 2 (1993) 3, Seite 219-224
Cattinari, Maria Grazia; de Lemus, Mencía; Tizzano, Eduardo

RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy

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Springer Science and Business Media LLC, 2024

Published in: Orphanet Journal of Rare Diseases, 19 (2024) 1
Martínez-Hernández, Rebeca; Bernal, Sara; Alias, Laura; Tizzano, Eduardo F.

Abnormalities in Early Markers of Muscle Involvement Support a Delay in Myogenesis in Spinal Muscular Atrophy

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Oxford University Press (OUP), 2014

Published in: Journal of Neuropathology & Experimental Neurology, 73 (2014) 6, Seite 559-567
Cuscó, Ivon; Barceló, María J.; Baiget, Montserrat; Tizzano, Eduardo F.

Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying theSMN1gene : SMA CARRIER TESTING

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Hindawi Limited, 2002

Published in: Human Mutation, 20 (2002) 6, Seite 452-459
Nadal, Marta; Anton, Rosa; Dorca‐Arévalo, Jonatan; Estébanez‐Perpiñá, Eva; Tizzano, Eduardo F.; Fuentes‐Prior, Pablo

Structure and function analysis of Sam68 and hnRNP A1 synergy in the exclusion of exon 7 from SMN2 transcripts

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Wiley, 2023

Published in: Protein Science, 32 (2023) 4
Milligan, John N.; Blasco-Pérez, Laura; Costa-Roger, Mar; Codina-Solà, Marta; Tizzano, Eduardo F.

Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows

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MDPI AG, 2022

Published in: Genes, 13 (2022) 9, Seite 1657
Costa-Roger, Mar; Blasco-Pérez, Laura; Cuscó, Ivon; Tizzano, Eduardo F.

The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy

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MDPI AG, 2021

Published in: International Journal of Molecular Sciences, 22 (2021) 16, Seite 9029
Calucho, Maite; Gartner, Silvia; Barranco, Paula; Fernández-Álvarez, Paula; Pérez, Raquel García; Tizzano, Eduardo F.

Validation of nasospheroids to assay CFTR functionality and modulator responses in cystic fibrosis

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Springer Science and Business Media LLC, 2021

Published in: Scientific Reports, 11 (2021) 1
Valenzuela, Irene; Codina, Marta; Fernández‐Álvarez, Paula; Mur, Pilar; Valle, Laura; Tizzano, Eduardo F.; Cuscó, Ivon

Expanding the phenotype of cerebellar‐facial‐dental syndrome: Two siblings with a novel variant in BRF1

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Wiley, 2020

Published in: American Journal of Medical Genetics Part A, 182 (2020) 11, Seite 2742-2745
Cueto-González, Anna M.; Fernández-Cancio, Mónica; Fernández-Alvarez, Paula; García-Arumí, Elena; Tizzano, Eduardo F.

Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient

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Springer Science and Business Media LLC, 2020

Published in: Human Genome Variation, 7 (2020) 1
Peña, Luis; Pico, Miguel; Rosatelli, Cristina; Meloni, Antonella; del Río, Elisabeth; Tizzano, Eduardo F.; Baiget, Montserrat

UGT1A1 Genotype in a White Boy With Crigler‐Najjar Syndrome Type 2

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Wiley, 2012

Published in: Journal of Pediatric Gastroenterology and Nutrition, 55 (2012) 5
Paré, Laia; Paez, David; Salazar, Juliana; Del Rio, Elisabeth; Tizzano, Eduardo; Marcuello, Eugenio; Baiget, Montserrat

Absence of large intragenic rearrangements in the DPYD gene in a large cohort of colorectal cancer patients treated with 5‐FU‐based chemotherapy

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Wiley, 2010

Published in: British Journal of Clinical Pharmacology, 70 (2010) 2, Seite 268-272

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