Výsledky vyhledávání - "José Ignacio Lao-Villadóniga"

Association of adrenergic receptor gene polymorphisms with different fibromyalgia syndrome domains

Autor: Gilberto Vargas-Alarcón, Maite Vallejo, José-Ignacio Lao-Villadóniga, Angélica Vargas, José Manuel Fragoso, Ferran Garcia-Fructuoso, Manuel Martínez-Lavín, David Cruz-Robles, Aline Martinez

Publikováno v: Arthritis & Rheumatism. 60:2169-2173

Objective Fibromyalgia (FM) patients have signs of relentless sympathetic hyperactivity associated with hyporeactivity to stress. Adrenergic receptors (ARs) are parts of the sympathetic nervous system that are fundamental for maintenance of homeostas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ad04a161af9685e30863544d94ad525
https://doi.org/10.1002/art.24655

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Relación entre genotipos del gen catecol O-metiltransferasa y la gravedad de la fibromialgia

Autor: José Ignacio Lao-Villadóniga, Ferran Garcia-Fructuoso, Cristina Santos, Katrin Beyer

Publikováno v: Reumatología Clínica. 2:168-172

Fundamento y objetivo: Determinar la posible relacion entre los genotipos Val158Met del gen catecol O-metiltransferasa (COMT) y la severidad del sindrome de fibromialgia (FM). Pacientes y metodos: El estudio incluyo 110 pacientes de edades comprendid

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::30710950970379d879ed898ca87ad2b1
https://doi.org/10.1016/s1699-258x(06)73042-x

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Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease

Autor: Katrin Beyer, José Ignacio Lao-Villadóniga, Juan Antonio Moriana, Christine Klein, Camino-León R, Rafael Artuch, Thomas Opladen, Eduardo Martínez-Gual, Araceli Sánchez-Raya, M. E. Mateos-Gonzalez, Eduardo López-Laso, Juan José Ochoa-Sepúlveda, Juan Luis Pérez-Navero, Aida Ormazabal

Publikováno v: Journal of neurology. 258(12)

Segawa disease is a rare dystonia due to autosomal dominant guanosine triphosphate cyclohydrolase I (adGTPCH) deficiency, affecting dopamine and serotonin biosynthesis. Recently, the clinical phenotype was expanded to include psychiatric manifestatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9b800e6ae71969d40646136a3b9b36a
https://pubmed.ncbi.nlm.nih.gov/21556877

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Segawa syndrome due to mutation Q89X in the GCH1 gene: a possible founder effect in Córdoba (southern Spain)

Autor: José Ignacio Lao-Villadóniga, Rafael Artuch, Francisco Javier Gascón-Jiménez, Juan José Ochoa-Sepúlveda, Aida Ormazabal, Katrin Beyer, Eduardo López-Laso, Camino-León R, Juan José Ochoa-Amor, M. E. Mateos-Gonzalez, Enrique Bescansa-Heredero, Juan Luis Pérez-Navero

Publikováno v: Journal of neurology. 256(11)

Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency is an inborn error of neurotransmitter metabolism, with a prevalence of 0.5 per million, caused by mutations/deletions in the GCH1 gene. The finding of the mutation Q89X in the GCH

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ccca5bd8d21bf539f5b974c3ed82d1f
https://pubmed.ncbi.nlm.nih.gov/19533203

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Catechol-O-methyltransferase gene haplotypes in Mexican and Spanish patients with fibromyalgia

Autor: Maite Vallejo, Rashidi Springall, Fernando Davalos Hernandez, David Cruz-Robles, Manuel Ramos-Kuri, Manuel Martínez-Lavín, José Manuel Fragoso, Angélica Vargas, José Ignacio Lao-Villadóniga, Ferran Garcia-Fructuoso, Rafael Bojalil, Gilberto Vargas-Alarcón, Alfonso Vargas

Publikováno v: Arthritis Research & Therapy

Autonomic dysfunction is frequent in patients with fibromyalgia (FM). Heart rate variability analyses have demonstrated signs of ongoing sympathetic hyperactivity. Catecholamines are sympathetic neurotransmitters. Catechol-O-methyltransferase (COMT),

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7fa83f39246f47ae0739809b10bd2ce
https://pubmed.ncbi.nlm.nih.gov/17961261

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Dopa-responsive infantile hypokinetic rigid syndrome due to dominant guanosine triphosphate cyclohydrolase 1 deficiency

Autor: María Elena Mateos, Aida Ormazabal, Rafael Artuch, José Ignacio Lao-Villadóniga, Juan Luis Pérez-Navero, Rafael Camino, Juan José Ochoa, Eduardo López-Laso

Publikováno v: Journal of the neurological sciences. 256(1-2)

We report on a GTP cyclohydrolase 1 mutation-confirmed heterozygous case presenting with an infantile hypokinetic rigid syndrome and delay in attainment of motor milestones starting from the first year of life. He had a family history of dopa-respons

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa0d61a51c543fb027ed259cb3a60db0
https://pubmed.ncbi.nlm.nih.gov/17368676

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[Relationship between COMT gene genotypes and severity of fibromyalgia]

Autor: Ferran, Josep García-Fructuoso, José, Ignacio Lao-Villadóniga, Katrin, Beyer, Cristina, Santos

Publikováno v: Reumatologia clinica. 2(4)

To determine the possible relationship between Val158Met genotypes of the COMT gene and the severity of fibromyalgia (FM) syndrome.The study included 110 patients aged between 45 and 55 years old diagnosed with FM (ACR, 1990) and 110 samples from con

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f6ff10438f4afccb7c7cbb532c0a9f20
https://pubmed.ncbi.nlm.nih.gov/21794324

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