Zobrazeno 1 - 10
of 63
pro vyhledávání: '"Amalia Martinez-Mir"'
Autor:
Francisco Arias-Aragón, Enriqueta Tristán-Clavijo, Irene Martínez-Gallego, Estefanía Robles-Lanuza, Heriberto Coatl-Cuaya, Celia Martín-Cuevas, Ana C. Sánchez-Hidalgo, Antonio Rodríguez-Moreno, Amalia Martinez-Mir, Francisco G. Scholl
Publikováno v:
iScience, Vol 26, Iss 6, Pp 106868- (2023)
Summary: Alzheimer’s disease (AD) is characterized by memory impairments and age-dependent synapse loss. Experimental and clinical studies have shown decreased expression of the glutamatergic protein Neuroligin-1 (Nlgn1) in AD. However, the consequ
Externí odkaz:
https://doaj.org/article/5233b3de08fc4b01a50dadad8bc24dfc
Autor:
Rafael J. Camacho-Garcia, Mª. Inmaculada Planelles, Mar Margalef, Maria L. Pecero, Rafael Martínez-Leal, Francisco Aguilera, Elisabet Vilella, Amalia Martinez-Mir, Francisco G. Scholl
Publikováno v:
Neurobiology of Disease, Vol 47, Iss 1, Pp 135-143 (2012)
The identification of mutations in genes encoding proteins of the synaptic neurexin–neuroligin pathway in different neurodevelopmental disorders, including autism and mental retardation, has suggested the presence of a shared underlying mechanism.
Externí odkaz:
https://doaj.org/article/730507e8eb704a70a5e757f9093d8352
Autor:
Rufino Mondéjar, Francisca Solano, Rocío Rubio, Mercedes Delgado, Angel Pérez-Sempere, Antonio González-Meneses, Teresa Vendrell, Guillermo Izquierdo, Amalia Martinez-Mir, Miguel Lucas
Publikováno v:
PLoS ONE, Vol 9, Iss 1, p e86286 (2014)
OBJECTIVE: To study the molecular genetic and clinical features of cerebral cavernous malformations (CCM) in a cohort of Spanish patients. METHODS: We analyzed the CCM1, CCM2, and CCM3 genes by MLPA and direct sequencing of exons and intronic boundar
Externí odkaz:
https://doaj.org/article/fe074f3ba900410ea1adf5b2ed1a79b0
Autor:
Francisco Arias-Aragón, Francisco G. Scholl, M Teresa Romero-Barragán, Amalia Martinez-Mir, Celia Martín-Cuevas, Ana C. Sánchez-Hidalgo, José M. Delgado-García
Publikováno v:
idUS. Depósito de Investigación de la Universidad de Sevilla
instname
Digital.CSIC. Repositorio Institucional del CSIC
instname
Digital.CSIC. Repositorio Institucional del CSIC
Presenilins (PS) form the active subunit of the gamma-secretase complex, which mediates the proteolytic clearance of a broad variety of type-I plasma membrane proteins. Loss-of-function mutations in PSEN1/2 genes are the leading cause of familial Alz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3316d02386a8949c29d1136f3321cd66
Autor:
Amalia Martinez-Mir, Miguel Lucas, Gemma Iglesias, Alfons Macaya, Antonio Castellano, Francisco G. Scholl, Enriqueta Tristán-Clavijo, Ana M. Rojas
Publikováno v:
Movement Disorders. 31:1743-1748
Background Episodic ataxia type 1 is a rare autosomal dominant neurological disorder caused by mutations in the KCNA1 gene that encodes the α subunit of voltage-gated potassium channel Kv1.1. The functional consequences of identified mutations on ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9b0b196f7bc9e188b20597eba259bdfb
https://doi.org/10.1002/mds.26737
https://doi.org/10.1002/mds.26737
Autor:
Eftichia Duketis, Amaia Hervás, Giovanni Malerba, Thomas Bourgeron, Richard Delorme, Barbara Franke, Elisabetta Trabetti, Rafaela Caballero-Andaluz, Marion Benabou, Bru Cormand, Francisco G. Scholl, Christine M. Freitag, Nanda Rommelse, Afsheen Yousaf, Amalia Martinez-Mir, Elena Bacchelli, Agatino Battaglia, Marta Ribasés, Claudio Toma, Bàrbara Torrico, Elena Maestrini, Jan K. Buitelaar, Andreas G. Chiocchetti
Publikováno v:
Autism Research. 10:202-211
Common variants contribute significantly to the genetics of autism spectrum disorder (ASD), although the identification of individual risk polymorphisms remains still elusive due to their small effect sizes and limited sample sizes available for asso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::18c5ca1b178b4bbe7411b09c73a18290
https://doi.org/10.1002/aur.1662
https://doi.org/10.1002/aur.1662
Autor:
Rufino Mondejar, Francisca Solano, Guillermo Izquierdo, Amalia Martinez-Mir, Miguel Lucas, Mercedes Delgado
Publikováno v:
Genes & Genomics. 38:879-889
Cerebral cavernous malformations (CCM) are vascular lesions, which occur sporadically or following an autosomal dominant inheritance pattern with variable expression and incomplete penetrance. Three genes have been associated with the disease (CCM1,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c7ec1a71c2bfc186762f54bce503d338
https://doi.org/10.1007/s13258-016-0435-1
https://doi.org/10.1007/s13258-016-0435-1
Autor:
Alejandro Gil-Gálvez, Carmen Paradas, L. Villarreal-Pérez, Nigel G. Laing, Estela Area-Gomez, Emilia Servián-Morilla, G. García-Martín, Amalia Martinez-Mir, Pilar Carbonell-Corvillo, E. Rivas-Infante, Enriqueta Tristán-Clavijo, M.I. Chamorro-Muñoz, Antonio Miranda-Vizuete, M. Cabrera-Serrano
Publikováno v:
Neuromuscular disorders : NMD. 28(10)
MYH7 gene mutations are associated with wide clinical and genetic heterogeneity. We report a novel founder mutation in MYH7 in Southern Spain (Andalucía). We studied two index patients and 24 family members from two apparently independent families b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b0e4fc707846bb5851a0f41b7a40865
https://pubmed.ncbi.nlm.nih.gov/30166250
https://pubmed.ncbi.nlm.nih.gov/30166250
Autor:
Rafael J. Camacho-Garcia, Juan A. Paez-Gomez, Fabiola Mavillard, Emilia Servián-Morilla, Estefanía Robles-Lanuza, Francisco G. Scholl, Amalia Martinez-Mir, Ana C. Sanchez-Hidalgo, Carlos A. Saura
Publikováno v:
The Journal of neuroscience : the official journal of the Society for Neuroscience. 38(4)
Proteolytic processing of synaptic adhesion components can accommodate the function of synapses to activity-dependent changes. The adhesion system formed by neurexins (Nrxns) and neuroligins (Nlgns) bidirectionally orchestrate the function of presyna
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06de6b167f7be47e1108b6a32a13cd76
https://pubmed.ncbi.nlm.nih.gov/29229705
https://pubmed.ncbi.nlm.nih.gov/29229705
Autor:
Francisca Solano, García-Moreno Jm, Amalia Martinez-Mir, Miguel Lucas, Rocio Rubio, Rufino Mondejar, Juan J. Ríos-Martín, Mercedes Delgado, Begona Garcia-Bravo
Publikováno v:
Journal of Clinical Neurology (Seoul, Korea)
Digital.CSIC. Repositorio Institucional del CSIC
instname
Digital.CSIC. Repositorio Institucional del CSIC
instname
[Background] Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by a hoarse voice, variable scarring, and infiltration of the skin and mucosa. This disease is associated with mutations of the gene encoding extracellular matr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a519061dcd54d2a58455246dc529d2f
http://europepmc.org/articles/PMC3896652
http://europepmc.org/articles/PMC3896652