Unexpected complexity in the molecular diagnosis of spastic paraplegia 11

Autor: Irene Mademont‐Soler, Susanna Esteba‐Castillo, Aida Jiménez‐Xifra, Berta Alemany, Núria Ribas‐Vidal, Maria Cutillas, Mònica Coll, Mel·lina Pinsach, Sara Pagans, Mireia Alcalde, Marina Viñas‐Jornet, Mercedes Montero‐Vale, Marta deCastro‐Miró, Jairo Rodríguez, Lluís Armengol, Xavier Queralt, María Obón

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 12, Iss 6, Pp n/a-n/a (2024)

Abstract Background Spastic paraplegia 11 (SPG11) is the most prevalent form of autosomal recessive hereditary spastic paraplegia, resulting from biallelic pathogenic variants in the SPG11 gene (MIM *610844). Methods The proband is a 36‐year‐old

Externí odkaz: https://doaj.org/article/f8ae4d4c2eb84f83b89a1dd3212e22d2

GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms

Autor: Xavier Queralt, Dolors Casellas-Vidal, Dan Diego-Álvarez, Alberto Trujillo, Maria Del Mar García-González, Núria Espuña-Capote, Josep Perapoch, Anna Maroto, María Obón, María Dolores Ruiz, Irene Mademont-Soler

Publikováno v: American Journal of Medical Genetics Part A. 185:476-485

GLYT1 encephalopathy is a form of glycine encephalopathy caused by disturbance of glycine transport. The phenotypic spectrum of the disease has not yet been completely described, as only four unrelated families with the disorder have been reported to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9845b3945bc19347451e8d0c3270045
https://doi.org/10.1002/ajmg.a.61996

Front Cover

Autor: Ainhoa Pascual‐Alonso, Laura Blasco, Silvia Vidal, Esther Gean, Patricia Rubio, Mar O'Callaghan, Antonio F. Martínez‐Monseny, Alba Aina Castells, Clara Xiol, Vicenç Català, Nuria Brandi, Paola Pacheco, Carlota Ros, Miguel Campo, Encarna Guillén, Salva Ibañez, María J. Sánchez, Pablo Lapunzina, Julián Nevado, Fernando Santos, Elisabet Lloveras, Juan D. Ortigoza‐Escobar, María I. Tejada, Hiart Maortua, Francisco Martínez, Carmen Orellana, Mónica Roselló, María A. Mesas, María Obón, Alberto Plaja, Joaquín A. Fernández‐Ramos, Eduardo Tizzano, Rosario Marín, José L. Peña‐Segura, Soledad Alcántara, Judith Armstrong

Publikováno v: Clinical Genetics. 97

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::202e2ec403763de4affe42e483322c72
https://doi.org/10.1111/cge.13733

Molecular characterization of Spanish patients with MECP2 duplication syndrome

Autor: Antonio Martinez-Monseny, Clara Xiol, María Aurora Mesas, Alberto Plaja, Carlota Ros, Judith Armstrong, Pablo Lapunzina, Soledad Alcántara, José Luís Peña‐Segura, Maria Sanchez, Vicenç Català, Mónica Roselló, Patricia Rubio, Alba-Aina Castells, Rosario Marín, Mar O'Callaghan, Eduardo F. Tizzano, Francisco Martínez, Carmen Orellana, Joaquín A. Fernández-Ramos, María Obón, Silvia Vidal, Salva Ibañez, Esther Gean, Encarna Guillén, Maria Isabel Tejada, Elisabet Lloveras, Paola Pacheco, Nuria Brandi, Laura Blasco, Fernando Santos, Ainhoa Pascual-Alonso, Miguel Del Campo, Juan Darío Ortigoza-Escobar, Hiart Maortua, Julián Nevado

Publikováno v: CLINICAL GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

MECP2 duplication syndrome (MDS) is an X-linked neurodevelopmental disorder characterized by a severe to profound intellectual disability, early onset hypotonia and diverse psycho-motor and behavioural features. To date, fewer than 200 cases have bee

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c9703b07125f4ea2756a632ae65fce6
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17395

Heterozygous

Autor: David, Genis, Sara, Ortega-Cubero, Hector, San Nicolás, Jordi, Corral, Josep, Gardenyes, Laura, de Jorge, Eva, López, Berta, Campos, Elena, Lorenzo, Raúl, Tonda, Sergi, Beltran, Montserrat, Negre, María, Obón, Brigitte, Beltran, Laura, Fàbregas, Berta, Alemany, Fabián, Márquez, Lluís, Ramió-Torrentà, Jordi, Gich, Víctor, Volpini, Pau, Pastor

Publikováno v: Neurology. 91(21)

To describe a new spinocerebellar ataxia (SCA48) characterized by early cerebellar cognitive-affective syndrome (CCAS) and late-onset SCA.This is a descriptive study of a family that has been followed for more than a decade with periodic neurologic a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::dfc68e0bd58449e10d4063db9bde738c
https://pubmed.ncbi.nlm.nih.gov/30381368