Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Neurogenètica"'
Autor:
Elena Hernández-Hernández, Sandra Ledesma-Corvi, Fernando Yáñez-Gómez, Celia Garau, Laura Gálvez-Melero, Andrea Bagán, Carmen Escolano, M. Julia García-Fuster
In searching for novel targets to design antidepressants, among the characterized imidazoline receptors (IR), I2 receptors are an innovative therapeutical approach since they are dysregulated in major depressive disorder and by classical antidepressa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa6faa6e54902bda8a87c14aaf9e4dce
http://hdl.handle.net/2445/197543
http://hdl.handle.net/2445/197543
Autor:
Rita Horvath, Reza Maroofian, Juliane S Müller, Yavuz Oktay, Mahmut Aslan, Ashwati Nair, Uluç Yiş, Emily O'Heir, Elmasnur Yilmaz, Ana Töpf, Henry Houlden, Steven Laurie, Bilge Özgör, Sergi Beltran, Pinar Edem, K. Polavarapu, Fei Gao, Serdal Güngör, Nur Arslan, Andreas Roos, Hanns Lochmüller, Leslie Matalonga, Katherine Schon, Alysia Kern Lovgren, Angela Lochmüller, Patrick F. Chinnery, Nóra Zs Szabó, Denisa Hathazi, Ida Paramonov, Aliz Rieger, Ahmet Yaramis, Ece Sonmezler, Semra Hız Kurul, Ipek Kalafatcilar, Burcu Ekinci
Publikováno v:
Brain
Consanguineous marriages have a prevalence rate of 24% in Turkey. These carry an increased risk of autosomal recessive genetic conditions, leading to severe disability or premature death, with a significant health and economic burden. A definitive mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a5e400847ded38fef658522e2ef5a88
https://avesis.deu.edu.tr/publication/details/de485db7-555e-4eea-9a2b-8423075ec9c4/oai
https://avesis.deu.edu.tr/publication/details/de485db7-555e-4eea-9a2b-8423075ec9c4/oai
Autor:
Jorgina Satrústegui, Laura Domínguez, Clàudia Serrano, Paula Martínez-Valero, Alexander Vallmitjana, Francesc Palau, Azahara Civera-Tregón, Raul Benitez, Janet Hoenicka
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
Neurobiology of Disease, Vol 152, Iss, Pp 105300-(2021)
UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)
instname
Neurobiology of Disease, Vol 152, Iss, Pp 105300-(2021)
UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)
Ganglioside-induced differentiation associated protein 1 (GDAP1) gene encodes a protein of the mitochondrial outer membrane and of the mitochondrial membrane contacts with the endoplasmic reticulum (MAMs) and lysosomes. Since mutations in GDAP1 cause
Autor:
Serdal Güngör, Ahmet Yaramis, Ece Sonmezler, Steven Laurie, Uluç Yiş, Ayşe İpek Polat, Elmasnur Yilmaz, Yavuz Oktay, Semra Hiz, Aysenur Yaramis, Sergi Beltran, Pinar Edem, Hanns Lochmüller, Rita Horvath, Ana Töpf
Publikováno v:
Neurology: Genetics
Objective: this study presents the neurologic phenotypes of 2 brothers with a novel homozygous COL4A1 mutation that was identified in a large Turkish consanguineous cohort of neurogenetic diseases. Methods: whole-exome sequencing and bioinformatic an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab35767fe3363ad0088bb26608d0eb74
http://hdl.handle.net/10230/44436
http://hdl.handle.net/10230/44436
Autor:
Vilor Tejedor, Natalia, Operto, Grégory, Evans, Tavia E., Falcon, Carles, Crous Bou, Marta, Minguillón, Carolina, Cacciaglia, Raffaele, Milà Alomà, Marta, Grau Rivera, Oriol, Suárez Calvet, Marc, Garrido Martín, Diego, Morán, Sebastián, Esteller, Manel, Adams, Hieab H., Molinuevo, José Luis, Guigó, Roderic, Gispert, Juan Domingo, ALFA Study
Publikováno v:
Brain Structure and Function, 225(8), 2331-2345. Springer-Verlag
Brain Structure & Function
Dipòsit Digital de la UB
Universidad de Barcelona
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Brain Structure & Function
Dipòsit Digital de la UB
Universidad de Barcelona
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Background Current evidence supports the involvement of brain-derived neurotrophic factor (BDNF) Val66Met polymorphism, and the ε4 allele of APOE gene in hippocampal-dependent functions. Previous studies on the association of Val66Met with whole hip
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff98ce49021b8351e1d8fb54fa144636
https://pure.eur.nl/en/publications/0a9e2dab-414c-4734-89cf-0506b01df736
https://pure.eur.nl/en/publications/0a9e2dab-414c-4734-89cf-0506b01df736
Autor:
Cornelia M. van Duijn, Meike W. Vernooij, Jordi Sunyer, Juan R. González, Hieab H.H. Adams, Alejandro Cáceres, Gennady V. Roshchupkin, Silvia Alemany, Wiro J. Niessen, Natalia Vilor-Tejedor, Mohammad Arfan Ikram
Publikováno v:
Neuroinformatics, 17(4), 583-592. Humana Press
Multivariate methods have the potential to better capture complex relationships that may exist between different biological levels. Multiple Factor Analysis (MFA) is one of the most popular methods to obtain factor scores and measures of discrepancy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e91e68002a56757d792f35946d34fae
http://hdl.handle.net/10230/43542
http://hdl.handle.net/10230/43542
Autor:
Sowmyalakshmi Rasika, Jean-Louis Benifla, Anne-Lise Delezoide, Homa Adle-Biassette, Gabor G. Kovacs, Eleonora Aronica, Philippe Manivet, Sara Cipriani, Pierre Gressens, Catherine Verney, Jeannette Nardelli, Ivan Milenkovic, Suonavy Khung, Isidre Ferrer, Nicolas Deriot
Publikováno v:
Cipriani, S, Ferrer, I, Aronica, E, Kovacs, G G, Verney, C, Nardelli, J, Khung, S, Delezoide, A-L, Milenkovic, I, Rasika, S, Manivet, P, Benifla, J-L, Deriot, N, Gressens, P & Adle-Biassette, H 2018, ' Hippocampal Radial Glial Subtypes and Their Neurogenic Potential in Human Fetuses and Healthy and Alzheimer's Disease Adults ', Cerebral cortex (New York, N.Y. : 1991) . https://doi.org/10.1093/cercor/bhy096
Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname
Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname
Neuropathological conditions might affect adult granulogenesis in the adult human dentate gyrus. However, radial glial cells (RGCs) have not been well characterized during human development and aging. We have previously described progenitor and neuro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::403c05b37f9d90eb8d629238b04b4cc7
https://kclpure.kcl.ac.uk/en/publications/b6c9cacc-f9fc-412b-af88-a8ca440faeff
https://kclpure.kcl.ac.uk/en/publications/b6c9cacc-f9fc-412b-af88-a8ca440faeff
Autor:
Marcé Grau, Anna
Publikováno v:
TDX (Tesis Doctorals en Xarxa)
TDR. Tesis Doctorales en Red
instname
TDR. Tesis Doctorales en Red
instname
Les encefalopaties epilèptiques són una condició on les anomalies epileptiformes es postulen com a contribuïdores d'una alteració progressiva de la funció cerebral. Aquest treball se centra específicament en les Encefalopaties Epilèptiques d'
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::dfc9ebe0e6f5641f142cbb66716da395
http://hdl.handle.net/10803/664252
http://hdl.handle.net/10803/664252
Autor:
De Bolòs Sánchez, Anna
Publikováno v:
Repositorio Abierto de la UdL
Universitad de Lleida
Universitad de Lleida
En aquest Treball de Final de Grau s’ha realitzat una proposta de projecte de Recerca seguint el model de MEMORIA CIENTÍFICO-TÉCNICA DE PROYECTOS INDIVIDUALES (TIPO A o B) de la convocatòria Retos del Ministerio de Economía, Industria y Competi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d6c947bbe0fdb3dd2fe4412f93fd0bba
http://hdl.handle.net/10459.1/62817
http://hdl.handle.net/10459.1/62817
Autor:
Josep A. Planell, Alba-Aina Castells, Elisabeth Engel, Oscar Castaño, Miguel A. Mateos-Timoneda, Soledad Alcántara, Zaida Álvarez
Publikováno v:
Recercat. Dipósit de la Recerca de Catalunya
Universitat Jaume I
UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)
Universitat Jaume I
UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)
Regenerative medicine strategies to promote recovery following traumatic brain injuries are currently focused on the use of biomaterials as delivery systems for cells or bioactive molecules. This study shows that cell-free biomimetic scaffolds consis