Výsledky vyhledávání - "David Dacruz"

Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy

Autor: Paloma Cabanas, Pilar Caamaño, Jacobo Limeres, Alejandro Brea-Fernández, David Dacruz-Álvarez, Lourdes Loidi

Publikováno v: Journal of Human Genetics. 64:1133-1136

Cyclophilins are a type of peptidyl-prolyl cis-trans isomerases. CWC27, one of the known human cyclophilins, is recruited by the spliceosome for the pre-mRNA splicing process. Biallelic deleterious variants in CWC27 lead to a spectrum of overlapping

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5cca984fa931da7cb41da1c045bc134
https://doi.org/10.1038/s10038-019-0664-7

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Copy number variation analysis of patients with intellectual disability from North-West Spain

Autor: Laura Pérez-Gay, Raquel Cruz, Francisco Barros, Luz Míguez, Carmen Gómez-Lado, Manuel Castro-Gago, David Dacruz, Inés Quintela, Angel Carracedo, Jesús Eirís

Publikováno v: Gene. 626:189-199

Intellectual disability (ID) is a complex and phenotypically heterogeneous neurodevelopmental disorder characterized by significant deficits in cognitive and adaptive skills, debuting during the developmental period. In the last decade, microarray-ba

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3ecd9e2fcc91270192cc36184723539
https://doi.org/10.1016/j.gene.2017.05.032

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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Autor: Yoshihisa Takiyama, Stefanie Brock, Jennifer Hirst, Niklas Dahl, Radka Kremlikova Pourova, Andrea Martinuzzi, Seth Perlman, Helene Verhelst, Omnia Fathy El-Rashidy, Nour Elkhateeb, Sarah I. Sheikh, Jamal Ghoumid, Erin Carmody, Georgia Xiromerisiou, Diego Miguel, James T. Bennett, Barbara Brechmann, William O. Walker, David Dacruz-Álvarez, Mathieu Anheim, Dana M. Jensen, Stefan Kölker, Uzma Shamshad, Darius Ebrahimi-Fakhari, Grace Yoon, Katharina Vill, David Bearden, Adel A. Mahmoud, Sheela Nampoothiri, Devorah Segal, Antje Wiesener, Shenela Lakhani, Joseph G. Gleeson, Chirag Patel, Angelica D'Amore, Abdelrahim Abdrabou Sadek, Marvin Ziegler, Mustafa Sahin, Toni S. Pearson, Julian Teinert, Kira A. Dies, Christopher J. Yuskaitis, Catherine L. Salussolia, Lubov Blumkin, Jonathan Baets, Laura Robelin, Daniel Ebrahimi-Fakhari, Parham Habibzadeh, Anju Shukla, Peter O. Bauer, Saskia Bulk, Afshin Saffari, Elizabeth Lim-Melia, Michael C. Kruer, Christian Beetz, Andreas Ziegler, Pankaj B. Agrawal, Thomas Bourinaris, Filippo M. Santorelli, Mireille Guillot, Abdullah Alamri, Mohammad Ali Faghihi, Kathrin Eberhardt, Thomas Smol, Henry Houlden, Nur Aydinli, Constanze Heine, Soroor Inaloo, Anaita Udwadia-Hegde, Alejandro Brea-Fernández, Yasemin Alanay, Rachana Dubey Gupta, Ayse Aksoy, Agathe Roubertie, Jens Volkmann, Basil T. Darras, Hendrik Langen, Mauricio R. Delgado, Jan Ulrich Schlump, Gregory Geisel, Anna Jansen, Somayeh Bakhtiari, Steven P. Miller, Miriam Wimmer, Maha S. Zaki, Premsai Nagabhyrava, Robert Behne, Hossein Darvish

Publikováno v: Brain

Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to prototypical yet poorly understood forms of childhood-onset and complex hereditary spastic paraplegia: SPG47 (AP4B1), SPG50 (AP4M1), SP

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e16bcaf88226cde8fedce925b8e3ea36
https://pubmed.ncbi.nlm.nih.gov/33294911

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Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders

Autor: Angel Carracedo, Jesús Eirís, Alejandro Brea-Fernández, David Dacruz, Francisco Barros

Publikováno v: American journal of medical genetics. Part A. 179(2)

Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and Genitopatellar syndrome (GTPTS) are very rare conditions caused by KAT6B truncating variants. Because of both syndromes often share common features the associated phenotypes are usually grouped

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f23078d856ab0f03b57e2a5fa875b176
https://pubmed.ncbi.nlm.nih.gov/30569622

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Frequency, symptoms, risk factors, and outcomes of autoimmune encephalitis after herpes simplex encephalitis: a prospective observational study and retrospective analysis

Autor: Simone Mattozzi, Pere Soler-Palacín, Manuel Toledo, Laia Alsina, Gemma Aznar-Laín, Cristóbal Carnero, Teresa Bermejo, Virginia Pomar, Eloy Rodríguez-Rodríguez, Lucía Martín-Viota, Carmen Torres-Torres, David Dacruz-Álvarez, Laura Toledo-Bravo, Juan C Portillo-Cuenca, Verónica González-Álvarez, Elisa Fernández-Cooke, Eloy Martinez-Heras, Maria Concepción Miranda-Herrero, Maria Angeles Marcos, Dulce Campos, Olaf Neth, Verónica Delgadillo-Chilavert, Ana Zabalza, Alexandru Vlagea, Silvana Sarria-Estrada, Myrna R. Rosenfeld, Robert Guerri, María Lorenzo-Ruiz, Laura Abraira, Alfonso Amado-Puentes, Carmen Montejo, Beatriz Muñoz-Cabello, Marcos Madruga, Maria Elena Erro, Anna Felipe, Germán Morís, Luis Monros-Giménez, Claudia Fortuny, Luisa Arrabal, Noemí Nuñez-Enamorado, Albert Saiz, Andrea Campo, Jordi Muchart, Antonio Hedrera-Fernández, Josep Dalmau, Juan C García-Monco, Itxaso Martí-Carrera, David Conejo-Moreno, Eduardo López-Laso, María Poyato, Gabriela Secondi, Thaís Armangue, Eulàlia Turón, Sergio Aguilera-Albesa, Antia Moreira, Miguel Tomás, Ignacio Málaga-Diéguez, Sabas Boyero-Durán, Teresa Gili, Xavier Martínez-Lacasa, Sara Llufriu, Luis Querol, Luis Bataller, Luis Prieto, Íñigo Corral-Corral, Antoni Noguera-Julian, Marianna Spatola, Marc Carceles-Cordon, Àngela Deyà, Leticia Martín Gil, Lorena Monge, Eugenia Martinez-Hernandez, Antonio Arjona-Padillo, Joaquín A. Fernández-Ramos, Marta Dapena, Juan Navarro-Morón, Ana Camacho, Francesc Graus, Concepción Sierra, María J. López, María-Jesús Martínez-González, Jordi Estela-Herrero, Verónica Cantarín-Extremera, S Guillén, Paula Bellas-Lamas, Izascun Arratibel, Helena Ariño, Víctor Soto-Insuga, Manel Juan

Publikováno v: LANCET NEUROLOGY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
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

BACKGROUND: Herpes simplex encephalitis can trigger autoimmune encephalitis that leads to neurological worsening. We aimed to assess the frequency, symptoms, risk factors, and outcomes of this complication. METHODS: We did a prospective observational

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fabf730fd9775265ff1029b31bd1c2f
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=8151

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Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene

Autor: Miguel A. Martín, David Dacruz-Alvarez, Pintos-Martínez E, Andrés Beiras-Iglesias, Francisco Martínez-Azorín, Joaquín Arenas, Manuel Castro-Gago

Publikováno v: Braindevelopment. 38(1)

Choline kinase beta gene ( CHKB ) mutations have been identified in Megaconial Congenital Muscular Dystrophy (MDCMC) patients, a very rare inborn error of metabolism with 21 cases reported worldwide. We report the case of a Spanish boy of Caucasian o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2a35df456467f3141ff8b70a08c1904
https://pubmed.ncbi.nlm.nih.gov/26006750

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Leucodistrofia hipomielinizante de tipo 6. Claves clínicas y de neuroimagen en la detección de un nuevo caso

Autor: Jesús Eirís-Puñal, Carmen Gómez-Lado, Francisco Barros-Angueira, E Otero-Dominguez, David Dacruz, P Fuentes-Pita

Publikováno v: Revista de Neurología. 67:339

Introduction. Hypomyelinating leukodystrophy-6 is a rare and early onset neurodegenerative disease which entails a clinical pattern of pyramidal-extrapyramidal and cerebellar involvement and it comes with a neuroimaging consisting of hypomielination,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b03151bca0c5f836742122f4047fea20
https://doi.org/10.33588/rn.6709.2018264

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Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion

Autor: Francisco Martínez-Azorín, Miguel A. Martín, David Dacruz-Alvarez, Pintos-Martínez E, Aitor Delmiro, Manuel Castro-Gago, Joaquín Arenas, Andrés Beiras-Iglesias

Publikováno v: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 18(6)

Background Choline kinase beta gene (CHKB) mutations have been identified in Megaconial Congenital Muscular Dystrophy (MDCMC) patients, but never in patients with an additional combined deficiency of complexes I, III and IV and mitochondrial DNA (mtD

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30653160e8d377638707d599f1ea7158
https://pubmed.ncbi.nlm.nih.gov/24997086

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