Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Susanna Esteba-Castillo"'
Autor:
Irene Mademont‐Soler, Susanna Esteba‐Castillo, Aida Jiménez‐Xifra, Berta Alemany, Núria Ribas‐Vidal, Maria Cutillas, Mònica Coll, Mel·lina Pinsach, Sara Pagans, Mireia Alcalde, Marina Viñas‐Jornet, Mercedes Montero‐Vale, Marta deCastro‐Miró, Jairo Rodríguez, Lluís Armengol, Xavier Queralt, María Obón
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 6, Pp n/a-n/a (2024)
Abstract Background Spastic paraplegia 11 (SPG11) is the most prevalent form of autosomal recessive hereditary spastic paraplegia, resulting from biallelic pathogenic variants in the SPG11 gene (MIM *610844). Methods The proband is a 36‐year‐old
Externí odkaz:
https://doaj.org/article/f8ae4d4c2eb84f83b89a1dd3212e22d2
Autor:
Alberto Fernández, Federico Ramírez-Toraño, Ricardo Bruña, Pilar Zuluaga, Susanna Esteba-Castillo, Daniel Abásolo, Fernando Moldenhauer, Elizabeth Shumbayawonda, Fernando Maestú, Javier García-Alba
Publikováno v:
Frontiers in Aging Neuroscience, Vol 14 (2022)
BackgroundDown syndrome (DS) is considered the most frequent cause of early-onset Alzheimer’s disease (AD), and the typical pathophysiological signs are present in almost all individuals with DS by the age of 40. Despite of this evidence, the inves
Externí odkaz:
https://doaj.org/article/8bd9a605534144c8a81bbf44f8d4dfdb
Publikováno v:
Drugs in Context, Vol 9, Pp 1-12 (2020)
Background: We evaluated Gamalate® B6 (GB6) in patients with borderline intellectual functioning (BIF) or mild intellectual development disability (IDD). Patients and methods: This was a prospective phase IV observational pilot study in 30 patien
Externí odkaz:
https://doaj.org/article/5611cb40cea040dc89ff58ae88ffb085
Autor:
Jesus Pujol, Raquel Fenoll, Núria Ribas-Vidal, Gerard Martínez-Vilavella, Laura Blanco-Hinojo, Javier García-Alba, Joan Deus, Ramón Novell, Susanna Esteba-Castillo
Publikováno v:
NeuroImage: Clinical, Vol 18, Iss , Pp 160-166 (2018)
Background: We longitudinally assessed Down syndrome individuals at the age of risk of developing dementia to measure changes in brain anatomy and their relationship to cognitive impairment progression. Methods: Forty-two Down syndrome individuals we
Externí odkaz:
https://doaj.org/article/88823cc2ac1048e7ba579c953f413f85
Autor:
Laura Blanco-Hinojo, Jesus Pujol, Susanna Esteba-Castillo, Gerard Martínez-Vilavella, Olga Giménez-Palop, Elisabeth Gabau, Laia Casamitjana, Joan Deus, Ramón Novell, Assumpta Caixàs
Publikováno v:
NeuroImage: Clinical, Vol 21, Iss , Pp - (2019)
Objective: To investigate, based on a putative abnormal neural processing of disgusting signals in Prader Willi syndrome (PWS) patients, the brain response to visual representations of disgusting food in PWS using functional MRI (fMRI). Methods: Twen
Externí odkaz:
https://doaj.org/article/19d392d922f143959decad17c8ee4d8d
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
Publikováno v:
International Journal of Environmental Research and Public Health; Volume 20; Issue 6; Pages: 5096
Scientia
Scientia
Global deterioration scale; Down syndrome; Alzheimer’s disease Escala de deteriorament global; Síndrome de Down; Malaltia d'Alzheimer Escala de deterioro global; Síndrome de Down; Enfermedad de Alzheimer The aim of this study is to adapt and vali
Autor:
Sara Gámez, Jesus Cobo, Meritxell Fernández-Lafitte, Ramón Coronas, Isabel Parra, Joan Carles Oliva, Aida Àlvarez, Susanna Esteba-Castillo, Olga Giménez-Palop, Raquel Corripio, Diego J. Palao, Assumpta Caixàs
Publikováno v:
Scientia
Journal of Clinical Medicine
Volume 12
Issue 3
Pages: 1155
Journal of Clinical Medicine
Volume 12
Issue 3
Pages: 1155
D2:D4; Prader–Willi syndrome; Epigenetic D2:D4; Síndrome de Prader-Willi; Epigenètica D2:D4; Síndrome de Prader-Willi; Epigenética Prader-Willi syndrome (PWS) is a genetic disorder produced by a lack of expression of paternally derived genes in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::071ee93caf3032bf7a4727baee8ff651
https://ddd.uab.cat/record/273346
https://ddd.uab.cat/record/273346
Autor:
Susanna Esteba-Castillo, Emili Rodríguez-Hildago, Miguel Ángel Castellanos, Ramon Novell, Javier García-Alba, Fernando Moldenhauer, Lucía Vaquero
Publikováno v:
Journal of Applied Research in Intellectual Disabilities. 35:495-505
BACKGROUND Despite presenting higher risk of dementia, mild cognitive impairment (MCI) is not well defined in Down syndrome population. OBJECTIVE We aimed to describe cognitive and neuropsychological patterns associated with MCI in Down syndrome indi
Autor:
Laia Casamitjana, Laura Blanco-Hinojo, Olga Giménez-Palop, Jesús Pujol, Gerard Martínez-Vilavella, Susanna Esteba-Castillo, Rocío Pareja, Valentín Freijo, Laura Vigil, Joan Deus, Assumpta Caixàs
Publikováno v:
Journal of Clinical Medicine; Volume 11; Issue 7; Pages: 1831
Altres ajuts: Fundació Parc Taulí CIR2020/022 We compared body composition, biochemical parameters, motor function, and brain neural activation in 27 adults with Prader-Willi syndrome and growth-hormone deficiency versus age-and sex-matched control