Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Niccolò Emanuele Mencacci"'
Publikováno v:
Current neurology and neuroscience reportsPapers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance. 21(3)
Since the advent of next-generation sequencing, the number of genes associated with dystonia has been growing exponentially. We provide here a comprehensive review of the latest genetic discoveries in the field of dystonia and discuss how the growing
Autor:
Leonardo Collado-Torres, Oluwadamilola Ojo, Huw Morris, Andy Thomason, Isabel Gonzalez-Aramburu, Mie Rizig, Sara Bandrés Ciga, Patrick Lewis, María Teresa Periñán, Pau Pastor, Nicholas Wood, Kerrin Small, John Quinn, PAOLA FORABOSCO, Rubén Fernández-Santiago, Astrid Daniela Adarmes Gómez, Juan Carlos Martinez Castrillo, Sonja Scholz, Victoria Alvarez, Niccolò Emanuele Mencacci, Michael Weale, Thomas Gasser, Kari Majamaa, Adolfo Mínguez-Castellanos, Jose Bras, J. Raphael Gibbs, Monica Diez-Fairen, Ruth Lovering, Jon Infante, Juan A. Botía, Rita Guerreiro, John Hardy, Mario Ezquerra, Valentina Escott-Price, Arianna Tucci, Kin Ying Mok, Kerri J Kinghorn, Manuel Menéndez González, Janet Hoenicka, Njideka Okubadejo, Regina Reynolds, Alexis Brice, Ignacio Alvarez, Adaikalavan Ramasamy, Pille Taba, David Zhang, Lydia Vela-Desojo
Publikováno v:
Nature Communications
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Guelfi, S, D’sa, K, Botía, J A, Vandrovcova, J, Reynolds, R H, Zhang, D, Trabzuni, D, Collado-torres, L, Thomason, A, Quijada Leyton, P, Gagliano Taliun, S A, Nalls, M A, Small, K S, Smith, C, Ramasamy, A, Hardy, J, Weale, M E & Ryten, M 2020, ' Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information ', Nature Communications, vol. 11, no. 1 . https://doi.org/10.1038/s41467-020-14483-x
Nature communications, vol 11, iss 1
Digital.CSIC. Repositorio Institucional del CSIC
instname
Nature Communications 11, 1041 (2020).
UCrea Repositorio Abierto de la Universidad de Cantabria
Nature communications
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Guelfi, S, D’sa, K, Botía, J A, Vandrovcova, J, Reynolds, R H, Zhang, D, Trabzuni, D, Collado-torres, L, Thomason, A, Quijada Leyton, P, Gagliano Taliun, S A, Nalls, M A, Small, K S, Smith, C, Ramasamy, A, Hardy, J, Weale, M E & Ryten, M 2020, ' Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information ', Nature Communications, vol. 11, no. 1 . https://doi.org/10.1038/s41467-020-14483-x
Nature communications, vol 11, iss 1
Digital.CSIC. Repositorio Institucional del CSIC
instname
Nature Communications 11, 1041 (2020).
UCrea Repositorio Abierto de la Universidad de Cantabria
Nature communications
International Parkinson’s Disease Genomics Consortium (IPDGC), UK Brain Expression Consortium (UKBEC).
Genome-wide association studies have generated an increasing number of common genetic variants associated with neurological and psychiatric
Genome-wide association studies have generated an increasing number of common genetic variants associated with neurological and psychiatric
Autor:
Cristina Tejera-Parrado, Jean-christophe Corvol, Huw Morris, Rauan Kaiyrzhanov, Sebastian Schreglmann, Mie Rizig, Sara Bandrés Ciga, Francisco Javier Barrero Hernández, Patrick Lewis, Nicholas Wood, Claudia Schulte, John Quinn, Astrid Daniela Adarmes Gómez, Juan Carlos Martinez Castrillo, Berta María Pascual Sedano, Victoria Alvarez, Niccolò Emanuele Mencacci, Thomas Gasser, Ziv Gan-Or, Luis Bonet-Ponce, Adolfo Mínguez-Castellanos, Jose Bras, J. Raphael Gibbs, Monica Diez-Fairen, Viorica Chelban, Ruth Lovering, Jon Infante, Oriol Dols Icardo, Hirotaka Iwaki, Rita Guerreiro, John Hardy, Mario Ezquerra, Kin Ying Mok, Kerri J Kinghorn, Beatriz De la Casa-Fages, Peter Heutink, Manuel Menéndez González, Francisco Escamilla Sevilla, Sara Saez-Atienzar, Alexis Brice, Ignacio Alvarez, Pille Taba
Publikováno v:
Movement
Movement disorders : official journal of the Movement Disorder Society, vol 34, iss 4
Movement disorders : official journal of the Movement Disorder Society, vol 34, iss 4
Background PD is a complex polygenic disorder. In recent years, several genes from the endocytic membrane-trafficking pathway have been suggested to contribute to disease etiology. However, a systematic analysis of pathway-specific genetic risk facto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcc57b205c12177e309814c86ba6bcec
http://livrepository.liverpool.ac.uk/3031818/1/Bandres-Ciga_et_al-2019-Movement_Disorders.pdf
http://livrepository.liverpool.ac.uk/3031818/1/Bandres-Ciga_et_al-2019-Movement_Disorders.pdf