Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Mercè, Bolasell"'
Autor:
Mercedes Serrano, Maria Elias, Marta Llorens, Mercè Bolasell, Helena Vall-Roqué, Laia Villalta
Publikováno v:
Trials, Vol 25, Iss 1, Pp 1-12 (2024)
Abstract Background Children with genetic conditions are at increased risk for mental health and neurodevelopmental problems, often accompanied by significant parental distress. Genetic and family factors can impact children and parents’ mental hea
Externí odkaz:
https://doaj.org/article/2d4e46f09ece48eda450aa2d1a4b7ae5
Autor:
Florencia Epifani, Susana María Pujol Serra, Marta Llorens, Sol Balcells, Gregorio Nolasco, Mercè Bolasell, Sergio Aguilera-Albesa, Ramon Cancho Candela, José Luis Cuevas Cervera, Verónica García Sánchez, Oscar Garcia, María Concepción Miranda-Herrero, Pedro J. Moreno-Lozano, Bernabé Robles, Susana Roldán Aparicio, Ramón Velázquez Fragua, Mercedes Serrano
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-12 (2023)
Abstract Phosphomannomutase deficiency (PMM2-CDG) leads to cerebellar atrophy with ataxia, dysmetria, and intellectual deficits. Despite advances in therapy, the cognitive and adaptive profile remains unknown. Our study explores the adaptive profile
Externí odkaz:
https://doaj.org/article/0568809a129f48fbad0bdc994d49c60e
Akademický článek
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Autor:
Antonio F. Martínez-Monseny, Albert Edo, Dídac Casas-Alba, Mercè Izquierdo-Serra, Mercè Bolasell, David Conejo, Loreto Martorell, Jordi Muchart, Laura Carrera, Carlos I. Ortez, Andrés Nascimento, Baldo Oliva, José M. Fernández-Fernández, Mercedes Serrano
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 10, p 5180 (2021)
The CACNA1A gene encodes the pore-forming α1A subunit of the voltage-gated CaV2.1 Ca2+ channel, essential in neurotransmission, especially in Purkinje cells. Mutations in CACNA1A result in great clinical heterogeneity with progressive symptoms, paro
Externí odkaz:
https://doaj.org/article/557b2a1eecf64bdeb4c9274c77b0e7cf
Autor:
Gerarda Cappuccio, Margherita Lucia De Bernardi, Alessia Morlando, Cristina Peduto, Iris Scala, Michele Pinelli, Emanuele Bellacchio, Flavio Gioele Gallo, Adriano Magli, Carmen Plaitano, Mercedes Serrano, Leticia Pías, Jaume Català, Mercè Bolasell, Annalaura Torella, Vincenzo Nigro, Ginevra Zanni, Nicola Brunetti‐Pierri
Hemizygous missense variants in the RPL10 gene encoding a ribosomal unit are responsible for an X-linked syndrome presenting with intellectual disability (ID), autism spectrum disorder, epilepsy, dysmorphic features, and multiple congenital anomalies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ab01ab99ab727567d667d3fd8bd6946
http://hdl.handle.net/11588/893570
http://hdl.handle.net/11588/893570
Autor:
Jordi Muchart, Dídac Casas-Alba, Alfredo García-Alix, Antonio Martinez-Monseny, Federico Ramos, César Arjona, Mercè Bolasell, Paula Casano, Loreto Martorell, Mercedes Serrano, Francesc Palau
Publikováno v:
American Journal of Medical Genetics Part A. 182:20-24
Okur-Chung neurodevelopmental syndrome (OCNS, MIM#617062) is a rare autosomal dominant syndrome related to CSNK2A1 mutations. It is characterized by intellectual disability, hypotonia, feeding and speech difficulties, dysmorphic features, and multisy
Autor:
E. Aísa, V. Freniche, Oscar Jerez García, Belén Pérez-Dueñas, N. Conde-Lorenzo, Celia Pérez-Cerdá, M.C. Miranda, Mercè Bolasell, Jordi Muchart, Manuel B. Morales, D. Itzep, F. Carratalá, I. Sebastián-García, Maria Eugenia Yoldi, E. de la Morena, S. Gassiot, L. López, María L. Couce, Jaak Jaeken, Sergio Aguilera-Albesa, Rafael Artuch, Raquel Montero, P. Arango, Luis González Gutiérrez-Solana, Dídac Casas-Alba, Daniel Cuadras, Mercedes Serrano, Susana Roldán, M.L. Carrasco-Marina, Antonio Martinez-Monseny, Alfons Macaya, Belén Pérez, Eduardo López-Laso, Javier Corral, L. Callejón-Póo, Ramón Velázquez-Fragua, M.C. Sierra-Córcoles, Ramón Cancho-Candela
Publikováno v:
Annals of Neurology. 85:740-751
Objective: Phosphomannomutase deficiency (PMM2 congenital disorder of glycosylation [PMM2-CDG]) causes cerebellar syndrome and strokelike episodes (SLEs). SLEs are also described in patients with gain-of-function mutations in the CaV2.1 channel, for
Autor:
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, Oscar, Garcia
Publikováno v:
Journal of Medical Genetics. 56:236-245
IntroductionPhosphomannomutase-2 deficiency (PMM2-CDG) is associated with a recognisable facial pattern. There are no early severity predictors for this disorder and no phenotype–genotype correlation. We performed a detailed dysmorphology evaluatio
Autor:
Cdg Spanish-Consortium, D. Itzep, Daniel Cuadras, Belén Pérez-Dueñas, Luis González Gutiérrez-Solana, Antonio Martinez-Monseny, Mercè Bolasell, Ramón Velázquez-Fragua, Alfons Macaya, Mercedes Serrano
Publikováno v:
Neuropediatrics. 49:408-413
Phosphomannomutase deficiency (PMM2-CDG) causes a cerebellar syndrome that has been evaluated using the International Cooperative Ataxia Rating Scale (ICARS). However, no particular dysarthria tests have been used. Speech ICARS subscore subjectively
Autor:
L. Carrera, Jordi Muchart, José M. Fernández-Fernández, Mercè Izquierdo-Serra, Loreto Martorell, Mercedes Serrano, Dídac Casas-Alba, Carlos Ortez, Mercè Bolasell, Andrés Nascimento, David Conejo, Antonio Martinez-Monseny, Albert Edo, Baldo Oliva
Publikováno v:
International Journal of Molecular Sciences
Dipòsit Digital de la UB
Universidad de Barcelona
Volume 22
Issue 10
International Journal of Molecular Sciences, Vol 22, Iss 5180, p 5180 (2021)
Dipòsit Digital de la UB
Universidad de Barcelona
Volume 22
Issue 10
International Journal of Molecular Sciences, Vol 22, Iss 5180, p 5180 (2021)
The CACNA1A gene encodes the pore-forming α1A subunit of the voltage-gated CaV2.1 Ca2+ channel, essential in neurotransmission, especially in Purkinje cells. Mutations in CACNA1A result in great clinical heterogeneity with progressive symptoms, paro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::720a7114d30688d11c0b07cf7d18ba8b
http://hdl.handle.net/10230/47763
http://hdl.handle.net/10230/47763