Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Míriam Guitart"'
Lack of Postprandial Peak in Brain-Derived Neurotrophic Factor in Adults with Prader-Willi Syndrome.
Autor:
Marta Bueno, Susanna Esteba-Castillo, Ramon Novell, Olga Giménez-Palop, Ramon Coronas, Elisabeth Gabau, Raquel Corripio, Neus Baena, Marina Viñas-Jornet, Míriam Guitart, David Torrents-Rodas, Joan Deus, Jesús Pujol, Mercedes Rigla, Assumpta Caixàs
Publikováno v:
PLoS ONE, Vol 11, Iss 9, p e0163468 (2016)
Prader-Willi syndrome (PWS) is characterized by severe hyperphagia. Brain-derived neurotrophic factor (BDNF) and leptin are reciprocally involved in energy homeostasis.To analyze the role of BDNF and leptin in satiety in genetic subtypes of PWS.Exper
Externí odkaz:
https://doaj.org/article/9e477da975734f6eb221bbaf889472d6
Autor:
Neus Baena, David Monk, Cinthia Aguilera, Mario F. Fraga, Agustín F. Fernández, Elisabeth Gabau, Raquel Corripio, Nuria Capdevila, Juan Pablo Trujillo, Anna Ruiz, Miriam Guitart
Publikováno v:
Clinical Epigenetics, Vol 16, Iss 1, Pp 1-11 (2024)
Abstract Background Temple syndrome (TS14) is a rare imprinting disorder caused by maternal UPD14, imprinting defects or paternal microdeletions which lead to an increase in the maternal expressed genes and a silencing the paternally expressed genes
Externí odkaz:
https://doaj.org/article/af22d34ee914432088d10b491ca50764
Autor:
Emma Garcia-Grau, Judith Lleberia, Laura Costa, Miriam Guitart, Marc Yeste, Jordi Benet, María José Amengual, Jordi Ribas-Maynou
Publikováno v:
Biology, Vol 12, Iss 1, p 70 (2022)
Semen quality has a direct relation to male fertility. Whether sperm variables in humans have decreased over the last years is still uncertain, with some studies showing a decline and others reporting no changes. In this regard, previous research has
Externí odkaz:
https://doaj.org/article/bfd7c924d02245b894ccbe1419f8b593
Autor:
Cinthia Aguilera, Stefan Hümmer, Marc Masanas, Elisabeth Gabau, Miriam Guitart, A. Arockia Jeyaprakash, Miguel F. Segura, Anna Santamaria, Anna Ruiz
Publikováno v:
Frontiers in Neuroscience, Vol 15 (2021)
KIF1A is a microtubule-dependent motor protein responsible for fast anterograde transport of synaptic vesicle precursors in neurons. Pathogenic variants in KIF1A have been associated with a wide spectrum of neurological disorders. Here, we report a p
Externí odkaz:
https://doaj.org/article/a076fd12eddd46a3a646d90898b8af95
Autor:
Cinthia Aguilera, Elisabeth Gabau, Ariadna Ramirez-Mallafré, Carme Brun-Gasca, Jana Dominguez-Carral, Veronica Delgadillo, Steve Laurie, Sophia Derdak, Natàlia Padilla, Xavier de la Cruz, Núria Capdevila, Nino Spataro, Neus Baena, Miriam Guitart, Anna Ruiz
Publikováno v:
PLoS ONE, Vol 16, Iss 10 (2021)
Angelman syndrome (AS) is a neurogenetic disorder characterized by severe developmental delay with absence of speech, happy disposition, frequent laughter, hyperactivity, stereotypies, ataxia and seizures with specific EEG abnormalities. There is a 1
Externí odkaz:
https://doaj.org/article/58f010521b1a422bb267dbbed268f859
Autor:
Cinthia Aguilera, Marina Viñas-Jornet, Neus Baena, Elisabeth Gabau, Concepción Fernández, Nuria Capdevila, Sanja Cirkovic, Adrijan Sarajlija, Marijana Miskovic, Danijela Radivojevic, Anna Ruiz, Miriam Guitart
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-7 (2017)
Abstract Background Patients with Angelman syndrome (AS) are affected by severe intellectual disability with absence of speech, distinctive dysmorphic craniofacial features, ataxia and a characteristic behavioral phenotype. AS is caused by the lack o
Externí odkaz:
https://doaj.org/article/78683611a3034c6699fa4b8a10379abe
Autor:
Alex Martin-Trujillo, Enrique Vidal, Ana Monteagudo-Sánchez, Marta Sanchez-Delgado, Sebastian Moran, Jose Ramon Hernandez Mora, Holger Heyn, Miriam Guitart, Manel Esteller, David Monk
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-12 (2017)
Altered genomic imprinting is frequently reported in cancer. Here, the authors analyze copy number and methylation in cancer cell lines and primary tumors to show that imprinted methylation profiles represent the accumulation of copy number alteratio
Externí odkaz:
https://doaj.org/article/0ced9395b01e4ea4b12aeea8da2c0e0e
Akademický článek
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Publikováno v:
Anales de Pediatría, Vol 89, Iss 1, Pp 62-63 (2018)
Externí odkaz:
https://doaj.org/article/f5dcb107a5f94de0a6154e629cb8c99d
Publikováno v:
Anales de Pediatría (English Edition), Vol 89, Iss 1, Pp 62-63 (2018)
Externí odkaz:
https://doaj.org/article/aabf910b488d49048c4ac7611a967cce