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18 p, 6.7 MB |
Identification of sixteen novel candidate genes for late onset Parkinson's disease
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Gialluisi, Alessandro (IRCCS Istituto Neurologico Mediterraneo Neuromed) ;
Reccia, Mafalda Giovanna (IRCCS Istituto Neurologico Mediterraneo Neuromed) ;
Modugno, Nicola (IRCCS Istituto Neurologico Mediterraneo Neuromed) ;
Nutile, Teresa (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ;
Lombardi, Alessia (IRCCS Istituto Neurologico Mediterraneo Neuromed) ;
Di Giovannantonio, Luca Giovanni (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ;
Pietracupa, Sara (IRCCS Istituto Neurologico Mediterraneo Neuromed) ;
Ruggiero, Daniela (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ;
Scala, Simona (IRCCS Istituto Neurologico Mediterraneo Neuromed) ;
Gambardella, Stefano (Department of Biomolecular Science. University of Urbino Carlo Bò) ;
Noyce, Alastair J. ;
Kaiyrzhanov, Rauan ;
Middlehurst, Ben ;
Kia, Demis A. ;
Tan, Manuela ;
Houlden, Henry ;
Morris, Huw R. ;
Plun-Favreau, Helen ;
Holmans, Peter ;
Hardy, John ;
Trabzuni, Daniah ;
Quinn, John ;
Bubb, Vivien ;
Mok, Kin Y. ;
Kinghorn, Kerri J. ;
Billingsley, Kimberley ;
Wood, Nicholas W.. ;
Lewis, Patrick ;
Schreglmann, Sebastian ;
Lovering, Rruth ;
R'Bibo, Lea ;
Manzoni, Claudia ;
Rizig, Mie ;
Ryten, Mina ;
Guelfi, Sebastian ;
Escott-Price, Valentina ;
Chelban, Viorica ;
Foltynie, Thomas ;
Williams, Nigel ;
Morrison, Karen E. ;
Clarke, Carl ;
Brice, Alexis ;
Danjou, Fabrice ;
Lesage, Suzanne ;
Corvol, Jean-Christophe ;
Martinez Rande, Maria (INSERM UMR 1220) ;
Schulte, Claudia ;
Brockmann, Kathrin ;
Simón-Sánchez, Javier ;
Heutink, Peter ;
Rizzu, Patrizia ;
Sharma, Manu ;
Gasser, Thomas ;
Cookson, Mark R. ;
Bandres-Ciga, Sara ;
Blauwendraat, Cornelis ;
Craig, David W. ;
Narendra, Derek ;
Faghri, Faraz ;
Gibbs, J.Raphael ;
Hernandez, Dena G. ;
Van Keuren-Jensen, Kendall ;
Shulman, Joshua M. ;
Iwaki, Hirotaka ;
Leonard, Hampton L. ;
Nalls, Mike A. ;
Robak, Laurie ;
Bras, Jose ;
Guerreiro, Rita ;
Lubbe, Steven ;
Finkbeiner, Steven ;
Mencacci, Niccolo E. ;
Lungu, Codrin ;
Singleton, Andrew B. ;
Scholz, Sonja ;
Reed, Xylena ;
Alcalay, Roy N. ;
Gan-Or, Zin ;
Rouleau, Guy A. ;
Krohn, Lynne ;
van Hilten, Jacobus J. ;
Marinus, Johan ;
Adarmes-Gómez, A.D ;
Aguilar Barberà, Miquel ;
Alvarez, Ignacio (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Alvarez, Victoria ;
Barrero, Francisco Javier ;
Bergareche Yarza, Jesús Alberto ;
Bernal-Bernal, Inmaculada ;
Blázquez Estrada, Marta ;
Bonilla-Toribio, Marta ;
Botía, Juan A. ;
Boungiorno, María Teresa ;
Buiza-Rueda, Dolores ;
Carrillo, Fátima ;
Carrión-Claro, M ;
Cerdan, Debora ;
Clarimón, Jordi ;
Compta, Yaroslau ;
Diez-Fairen, Monica ;
Dols Icardo, Oriol ;
Duarte, Jacinto ;
Duran, Raquel ;
Escamilla Sevilla, Francisco ;
Ezquerra, Mario ;
Feliz, Cici ;
Fernández, Manel ;
Fernández-Santiago, Rubén ;
Garcia, Ciara ;
García-Ruiz, Pedro ;
Gómez-Garre, Pilar ;
Gomez Heredia, Maria Jose ;
Gonzalez-Aramburu, Isabel ;
Gorostidi Pagola, Ana ;
Hoenicka, Janet ;
Infante, Jon ;
Jesús, Silvia ;
Jiménez-Escrig, Adriano (Hospital General de Segovia) ;
Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ;
Labrador-Espinosa, Miguel A. ;
Lopez-Sendon, Jose Luis ;
López de Munain Arregui, Adolfo ;
Macias, Daniel ;
Martínez Torres, Irene ;
Marín, Juan ;
Marti, Maria Jose ;
Martínez-Castrillo, Juan Carlos ;
Méndez-del-Barrio, Carlota ;
Menéndez González, Manuel ;
Mata, Marina ;
Mínguez, Adolfo ;
Mir, Pablo ;
Mondragon Rezola, Elisabet ;
Muñoz, Esteban ;
Pagonabarraga Mora, Javier (Institut d'Investigació Biomèdica Sant Pau) ;
Pastor, Pau ;
Perez Errazquin, Francisco ;
Periñán-Tocino, Teresa ;
Ruiz-Martínez, Javier ;
Ruz, Clara ;
Sanchez Rodriguez, Antonio ;
Sierra, María ;
Suarez-Sanmartin, Esther ;
Tabernero, Cesar ;
Tartari, Juan Pablo ;
Tejera-Parrado, Cristina ;
Tolosa, Eduard ;
Valldeoriola, Francesc ;
Vargas-González, Laura ;
Vela, Lydia ;
Vives, Francisco ;
Zimprich, Alexander ;
Pihlstrom, Lasse ;
Toft, Mathias ;
Koks, Sulev ;
Taba, Pille ;
Hassin-Baer, Sharon ;
Majamaa, Kari ;
Siitonen, Ari ;
Okubadejo, Njideka U. ;
Ojo, Oluwadamilola O. ;
Kaiyrzhanov, Rauan ;
Shashkin, Chingiz ;
Zharkynbekova, Nazira ;
Akhmetzhanov, Vadim ;
Aitkulova, Akbota ;
Zholdybayeva, Elena ;
Zharmukhanov, Zharkyn ;
Kaishybayeva, Gulnaz ;
Karimova, Altynay ;
Sadykova, Dinara ;
Iacoviello, Licia (University of Insubria (Itàlia)) ;
Gianfrancesco, F. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ;
Acampora, D. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ;
D'Esposito, M. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ;
Simeone, A. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ;
Ciullo, M. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso") ;
Esposito, T. (National Research Council. Institute of Genetics and Biophysics "Adriano Buzzati-Traverso")
Background: Parkinson's disease (PD) is a neurodegenerative movement disorder affecting 1-5% of the general population for which neither effective cure nor early diagnostic tools are available that could tackle the pathology in the early phase. [...]
2021 -  10.1186/s13024-021-00455-2
Molecular neurodegeneration, Vol. 16 Núm. 1 (december 2021) , p. 35
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9 p, 583.0 KB |
Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder) : Seven Novel Patients and a Review
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Tenorio, Jair (Hospital Universitario La Paz (Madrid)) ;
Morte, Beatriz (The SIDE Consortium: Spanish Intellectual Disability Exome Consortium) ;
Nevado, Julián (Hospital Universitario La Paz (Madrid)) ;
Martinez-Glez, Víctor (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ;
Santos-Simarro, Fernando (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ;
García-Miñaúr, Sixto (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ;
Palomares-Bralo, María (Hospital Universitario La Paz (Madrid)) ;
Pacio-Míguez, Marta (Hospital Universitario La Paz (Madrid)) ;
Gómez, Beatriz (Spanish Intellectual Disability Exome Consortium) ;
Arias, Pedro (Hospital Universitario La Paz (Madrid)) ;
Alcochea, Alba (Spanish Federation for Rare Diseases) ;
Carrión, Juan (Spanish Federation for Rare Diseases) ;
Arias, Patricia (Spanish Federation for Rare Diseases) ;
Almoguera, Berta (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
López-Grondona, Fermina (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
Lorda-Sanchez, Isabel (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
Galán-Gómez, Enrique (Hospital Materno Infantil de Badajoz) ;
Valenzuela, Irene (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Méndez Perez, María Pilar (Hospital Materno Infantil de Badajoz) ;
Cusco, Ivon (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Barros, Francisco (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Pié, Juan (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Ramos, Sergio (Hospital Universitario La Paz (Madrid)) ;
Ramos, Feliciano J. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Kuechler, Alma (University Hospital Essen (Alemanya)) ;
Tizzano, Eduardo F (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Ayuso, Carmen (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
Kaiser, Frank J. (University Hospital Essen (Alemanya)) ;
Pérez-Jurado, Luis Alberto (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Carracedo, Ángel (Universidade de Santiago de Compostela) ;
Lapunzina, Pablo (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ;
Universitat Autònoma de Barcelona
Schuurs-Hoeijmakers syndrome (SHMS) or PACS1 Neurodevelopmental disorder is a rare disorder characterized by intellectual disability, abnormal craniofacial features and congenital malformations. SHMS is an autosomal dominant hereditary disease caused by pathogenic variants in the PACS1 gene. [...]
2021 - 10.3390/genes12050738
Genes, Vol. 12 (may 2021)
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14 p, 2.3 MB |
eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics
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Bosio, Mattia (Barcelona Supercomputing Center) ;
Drechsel, Oliver (Robert Koch Institute) ;
Rahman, Rubayte (The Netherlands Cancer Institute (Amsterdam, Països Baixos)) ;
Muyas, Francesc (Universitat Pompeu Fabra) ;
Rabionet, Raquel (Institut de Recerca Sant Joan de Déu) ;
Bezdan, Daniela (Universitat Pompeu Fabra) ;
Domenech Salgado, Laura (Universitat Pompeu Fabra) ;
Hor, Hyun (University Hospital Zurich (Suïssa)) ;
Schott, Jean-Jacques (Service de Cardiologie. L'institut du thorax. CHU Nantes) ;
Munell Casadesus, Francina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Estivill, Xavier (Women's Health Dexeus) ;
Ossowski, Stephan (Institute of Medical Genetics and Applied Genomics. University of Tübingen) ;
Universitat Autònoma de Barcelona
Mendelian diseases have shown to be an and efficient model for connecting genotypes to phenotypes and for elucidating the function of genes. Whole-exome sequencing (WES) accelerated the study of rare Mendelian diseases in families, allowing for directly pinpointing rare causal mutations in genic regions without the need for linkage analysis. [...]
2019 - 10.1002/humu.23772
Human mutation, Vol. 40 Núm. 7 (july 2019) , p. 865-878
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