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9 results for Martínez-Monseny,+Antonio+F.

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ArticlesPeer ReviewedFull Text
MECP2-Related Disorders in Males
Author / Creator:Pascual-Alonso, Ainhoa ; Martínez-Monseny, Antonio F. ; Xiol, Clara ; Armstrong, Judith
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2021-09, Vol.22 (17), p.9610
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Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies
Author / Creator:Brooks, Daniel ; Burke, Elizabeth ; Lee, Sukyeong ; Eble, Tanya N. ; O’Leary, Melanie ; Osei-Owusu, Ikeoluwa ; Rehm, Heidi L. ; Dhar, Shweta U. ; Emrick, Lisa ; Bick, David ; Nehrebecky, Michelle ; Macnamara, Ellen ; Casas-Alba, Dídac ; Armstrong, Judith ; Prat, Carolina ; Martínez-Monseny, Antonio F. ; Palau, Francesc ; Liu, Pengfei ; Adams, David ; Lalani, Seema ; Rosenfeld, Jill A. ; Burrage, Lindsay C.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2024-03, Vol.143 (3), p.279-291
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Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)
Author / Creator:de Diego, Víctor ; Martínez-Monseny, Antonio F. ; Muchart, Jordi ; Cuadras, Daniel ; Montero, Raquel ; Artuch, Rafael ; Pérez-Cerdá, Celia ; Pérez, Belén ; Pérez-Dueñas, Belén ; Poretti, Andrea ; Serrano, Mercedes
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2017-09, Vol.40 (5), p.753-754
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Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)
Author / Creator:de Diego, Víctor ; Martínez-Monseny, Antonio F. ; Muchart, Jordi ; Cuadras, Daniel ; Montero, Raquel ; Artuch, Rafael ; Pérez-Cerdá, Celia ; Pérez, Belén ; Pérez-Dueñas, Belén ; Poretti, Andrea ; Serrano, Mercedes
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2017-09, Vol.40 (5), p.709-713
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Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy
Author / Creator:Izquierdo-Serra, Mercè ; Martínez-Monseny, Antonio ; López, Laura ; Carrillo-García, Julia ; Edo, Albert ; Ortigoza-Escobar, Juan ; García, Óscar ; Cancho-Candela, Ramón ; Carrasco-Marina, M ; Gutiérrez-Solana, Luis ; Cuadras, Daniel ; Muchart, Jordi ; Montero, Raquel ; Artuch, Rafael ; Pérez-Cerdá, Celia ; Pérez, Belén ; Pérez-Dueñas, Belén ; Macaya, Alfons ; Fernández-Fernández, José ; Serrano, Mercedes
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2018-02, Vol.19 (2), p.619
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CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings
Author / Creator:Martínez-Monseny, Antonio F. ; Edo, Albert ; Casas-Alba, Dídac ; Izquierdo-Serra, Mercè ; Bolasell, Mercè ; Conejo, David ; Martorell, Loreto ; Muchart, Jordi ; Carrera, Laura ; Ortez, Carlos I. ; Nascimento, Andrés ; Oliva, Baldo ; Fernández-Fernández, José M. ; Serrano, Mercedes
Publisher:Basel: MDPI AG
Journal title:International journal of molecular sciences, 2021-05, Vol.22 (10), p.5180
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MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables
Author / Creator:Vega-Hanna, Lourdes ; Casas-Alba, Dídac ; Balsells, Sol ; Bolasell, Mercè ; Rubio, Patricia ; García-García, Ana ; García-García, Oscar ; O’Callaghan, Mar ; Pascual-Alonso, Ainhoa ; Armstrong, Judith ; Martinez-Monseny, Antonio F.
Publisher:Switzerland: MDPI AG
Journal title:Diagnostics (Basel), 2025-01, Vol.15 (1), p.10
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A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)
Author / Creator:Serrano, Natalia Lourdes ; De Diego, Victor ; Cuadras, Daniel ; Martinez Monseny, Antonio F. ; Velázquez-Fragua, Ramón ; López, Laura ; Felipe, Ana ; Gutiérrez-Solana, Luis G. ; Macaya, Alfons ; Pérez-Dueñas, Belén ; Serrano, Mercedes
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2017-09, Vol.12 (1), p.155-155, Article 155
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Targeting the Gut Microbiome in Prader-Willi Syndrome
Author / Creator:Ramon-Krauel, Marta ; Amat-Bou, Montse ; Serrano, Mercedes ; Martinez-Monseny, Antonio F. ; Lerin, Carles
Publisher:Basel: MDPI AG
Journal title:Journal of clinical medicine, 2021-11, Vol.10 (22), p.5328
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MECP2-Related Disorders in Males

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Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies

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Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

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Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

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Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

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CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings

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MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables

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A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)

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Targeting the Gut Microbiome in Prader-Willi Syndrome

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