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Antonio Martinez-Monseny
Researcher at Hospital Sant Joan de Déu Barcelona
Publications - 27
Citations - 280
Antonio Martinez-Monseny is an academic researcher from Hospital Sant Joan de Déu Barcelona. The author has contributed to research in topics: Medicine & Hypotonia. The author has an hindex of 7, co-authored 24 publications receiving 164 citations. Previous affiliations of Antonio Martinez-Monseny include University of Barcelona.
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Journal ArticleDOI
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG)
Antonio Martinez-Monseny,Mercè Bolasell,L. Callejón-Póo,Daniel Cuadras,V. Freniche,D. Itzep,S. Gassiot,P. Arango,Dídac Casas-Alba,E. de la Morena,Javier Corral,Raquel Montero,Celia Pérez-Cerdá,Belén Pérez,Rafael Artuch,Jaak Jaeken,Mercedes Serrano,Ramón Velázquez-Fragua,Oscar Jerez García,Luis González Gutiérrez-Solana,Alfons Macaya,Belén Pérez-Dueñas,Sergio Aguilera-Albesa,L. López,M.C. Miranda,F. Carratalá,Maria Eugenia Yoldi,Eduardo López-Laso,M.C. Sierra-Córcoles,I. Sebastián-García,E. Aísa,Ramón Cancho-Candela,M.L. Carrasco-Marina,María L. Couce,Susana Roldán,Jordi Muchart,Manuel B. Morales,N. Conde-Lorenzo +37 more
TL;DR: AZATAX was designed to establish whether acetazolamide is safe and improves cerebellar syndrome in PMM2‐CDG.
Journal ArticleDOI
Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy
Mercè Izquierdo-Serra,Antonio Martinez-Monseny,L. López,Julia Carrillo-Garcia,Albert Edo,Juan Darío Ortigoza-Escobar,Oscar Jerez García,Ramón Cancho-Candela,M.L. Carrasco-Marina,Luis González Gutiérrez-Solana,Daniel Cuadras,Jordi Muchart,Raquel Montero,Rafael Artuch,Celia Pérez-Cerdá,Belén Pérez,Belén Pérez-Dueñas,Alfons Macaya,José M. Fernández-Fernández,Mercedes Serrano +19 more
TL;DR: The hypothesis of abnormal CaV2.1 function due to aberrant N-glycosylation as a potential novel pathomechanism of SLE and ataxia in PMM2-CDG is explored by using whole-cell patch-clamp, N- sugarsylation blockade and mutagenesis.
Journal ArticleDOI
Mutation update for the SATB2 gene
Yuri A. Zarate,Katherine A. Bosanko,Aisling R. Caffrey,Jonathan A. Bernstein,Donna M. Martin,Marc S. Williams,Elizabeth Berry-Kravis,Paul R. Mark,Melanie A. Manning,Vikas Bhambhani,Marcelo Vargas,Andrea H. Seeley,Juvianee I. Estrada-Veras,Juvianee I. Estrada-Veras,Marieke F. van Dooren,Maria Schwab,Adeline Vanderver,Daniela Melis,Adnan Alsadah,Laurie S. Sadler,Hilde Van Esch,Bert Callewaert,Ann Oostra,Jane Maclean,Maria Lisa Dentici,Valeria Orlando,Mark H. Lipson,Steven Sparagana,Timothy James Maarup,Suzanne I. M. Alsters,Ariel Brautbar,Eliana Kovitch,Sakkubai Naidu,Melissa Lees,Douglas M. Smith,Lesley Turner,Víctor Raggio,Lucía Spangenberg,Sixto García-Miñaur,Elizabeth Roeder,Rebecca O. Littlejohn,Dorothy K. Grange,Jean P. Pfotenhauer,Marilyn C. Jones,Meena Balasubramanian,Antonio Martinez-Monseny,Lot Snijders Blok,Lot Snijders Blok,Ralitza H. Gavrilova,Jennifer L. Fish +49 more
TL;DR: A review of published pathogenic variants in the SATB2 gene to date and report 38 novel alterations found in 57 additional previously unreported individuals to help provide better guidance for the care of individuals diagnosed with SAS.
Journal ArticleDOI
Hyaline fibromatosis syndrome: Clinical update and phenotype–genotype correlations
Dídac Casas-Alba,Antonio Martinez-Monseny,Rosa Maria Pino-Ramirez,Laia Alsina,Esperanza Castejón,Sergi Navarro-Vilarrubí,Belén Pérez-Dueñas,Mercedes Serrano,Francesc Palau,Alfredo García-Alix +9 more
TL;DR: Evidence is provided to reinforce the previous hypothesis that missense mutations in exons 1–12 and mutations leading to a premature stop codon lead to the severe form of the disease, while missense pathogenic variants in exon 13–17 lead toThe mild form ofThe disease.
Journal ArticleDOI
From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.
Antonio Martinez-Monseny,Daniel Cuadras,Mercè Bolasell,Jordi Muchart,César Arjona,Mar Borregan,Adi Algrabli,Raquel Montero,Rafael Artuch,Ramón Velázquez-Fragua,Alfons Macaya,Celia Pérez-Cerdá,Belén Pérez-Dueñas,Belén Pérez,Mercedes Serrano +14 more
TL;DR: PMM2-CDG patients’ DFs are consistent and inform about clinical severity when no clear phenotype–genotype correlation is known, and a classification of DFs into major and minor with diagnostic risk implications is proposed.