المؤلفون: E Cuenca-león, R Corominas, N Fernàndez-castillo, V Volpini, M Del Toro, M Roig, A Macaya, B Cormand

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.ub.edu/geneticaclasses/brucormand/pdfs/43.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.376.558; http://www.ub.edu/geneticaclasses/brucormand/pdfs/43.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.376.558
http://www.ub.edu/geneticaclasses/brucormand/pdfs/43.pdf

المؤلفون: R. Corominas A, M. Ribasés A, E. Cuenca-león A, B. Corm, A. Macaya A

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.ub.edu/geneticaclasses/brucormand/pdfs/45.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.376.105; http://www.ub.edu/geneticaclasses/brucormand/pdfs/45.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.376.105
http://www.ub.edu/geneticaclasses/brucormand/pdfs/45.pdf

المؤلفون: Aarno Palotie, Petra Keski-Säntti, Maija Wessman, Mari A. Kaunisto, Matti Ilmavirta, Marja-Liisa Sumelahti, Salli Vepsäläinen, Marjo Eveliina Hiekkala, Paavo Häppölä, Eija Hämäläinen, Markus Färkkilä, Elisa Häppölä, Dennis Lal, E. Cuenca-Leon, Erkki Säkö, Hannele Havanka, Mikko Kallela, Padhraig Gormley, Ville Artto, Markku Nissilä, Pietari Vuola, Hanna Harno

المساهمون: Neurologian yksikkö, Clinicum, Institute for Molecular Medicine Finland, Helsinki Institute of Life Science HiLIFE, University of Helsinki, Department of Neurosciences, Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator, HUS Neurocenter, Complex Disease Genetics, Genomics of Neurological and Neuropsychiatric Disorders

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Aura, PROTEINS, FEBRILE SEIZURES PLUS, GENERALIZED EPILEPSY, VARIANTS, 3124 Neurology and psychiatry, 03 medical and health sciences, TYPE-2, 0302 clinical medicine, pathogenic variant, CHANNEL, ATP1A2, Internal medicine, medicine, Humans, Generalized epilepsy, ICHD-3 beta criteria, clinical characteristics, Exome sequencing, Finland, SPECTRUM, CONSEQUENCES, Genetic heterogeneity, business.industry, 3112 Neurosciences, General Medicine, Middle Aged, medicine.disease, Migraine with aura, 3. Good health, NAV1.1 Voltage-Gated Sodium Channel, 030104 developmental biology, Migraine, Mutation, ion channel, International Classification of Headache Disorders, Female, Neurology (clinical), Calcium Channels, medicine.symptom, Sodium-Potassium-Exchanging ATPase, business, exome sequencing, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::303866426aa32b7939ccbb7178d33b76
http://hdl.handle.net/10138/306611

المؤلفون: Alfons Macaya, Victor Volpini, M del Toro, Manuel Roig, E. Cuenca-Leon, Noèlia Fernàndez-Castillo, Roser Corominas, Bru Cormand

المصدر: Cephalalgia. 28:1039-1047

مصطلحات موضوعية: Adult, Male, Periodicity, Pediatrics, medicine.medical_specialty, Adolescent, CACNA1A gene, Migraine with Aura, Molecular Sequence Data, Mutation, Missense, Nerve Tissue Proteins, Genetic analysis, Sodium Channels, Benign paroxysmal torticollis, ATP1A2, medicine, Humans, Amino Acid Sequence, Child, Torticollis, Familial hemiplegic migraine, business.industry, Basilar-Type Migraine, General Medicine, Middle Aged, medicine.disease, Migraine with aura, Pedigree, NAV1.1 Voltage-Gated Sodium Channel, Spain, Child, Preschool, Vertigo, Hemiplegic migraine, Physical therapy, Female, Calcium Channels, sense organs, Neurology (clinical), Sodium-Potassium-Exchanging ATPase, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::516ee30362a7763bf91bda696b61b797
https://doi.org/10.1111/j.1468-2982.2008.01645.x

المؤلفون: Manuel Roig, Bru Cormand, Alfons Macaya, H. B. Ginjaar, Roser Corominas, E. Cuenca-Leon, Noèlia Fernàndez-Castillo, José Antonio Arranz, Lucas Brunso

المصدر: Neuropediatrics. 36:389-394

مصطلحات موضوعية: Male, Reflex, Startle, Spasm, medicine.medical_specialty, DNA Mutational Analysis, Coenzymes, Physiology, Neonatal onset, chemistry.chemical_compound, Internal medicine, Metalloproteins, medicine, Humans, Hyperekplexia, Carbon-Carbon Lyases, Hypouricemia, Molybdenum cofactor deficiency, Reflex, Abnormal, Gephyrin, biology, business.industry, Pteridines, Infant, Nuclear Proteins, Exons, General Medicine, medicine.disease, Startle reaction, Clonazepam, Endocrinology, chemistry, Pediatrics, Perinatology and Child Health, biology.protein, Neurology (clinical), medicine.symptom, Molybdenum cofactor, business, Molybdenum Cofactors, Spasms, Infantile, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f300cc4bff5e91b65f0f913578c065cf
https://doi.org/10.1055/s-2005-872877

المؤلفون: M. Ribasés, E. Cuenca-Leon, Alfons Macaya, Roser Corominas, Bru Cormand

المصدر: European Journal of Neurology. 16:413-415

مصطلحات موضوعية: Adult, Male, Migraine without Aura, Linkage disequilibrium, Genotype, Migraine Disorders, Migraine with Aura, Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, Linkage Disequilibrium, Gene Frequency, Humans, Medicine, Genetic Predisposition to Disease, Allele, Allele frequency, Genetics, Likelihood Functions, business.industry, Haplotype, Estrogen Receptor alpha, Sequence Analysis, DNA, Middle Aged, medicine.disease, Migraine with aura, Haplotypes, Neurology, Migraine, Case-Control Studies, Female, Neurology (clinical), medicine.symptom, Receptors, Progesterone, business, Estrogen receptor alpha

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f439f363b54e4849ea74a26245a7842
https://doi.org/10.1111/j.1468-1331.2008.02499.x

المؤلفون: Daniel I. Chasman, Stefan Schreiber, Paul M. Ridker, Salli Vepsäläinen, Antti-Pekka Sarin, Veikko Salomaa, Christopher Sivert Nielsen, Tobias Freilinger, Markus Schürks, John-Anker Zwart, Hartmut Göbel, Lydia Quaye, Cynthia Sandor, Nicholas Eriksson, Tõnu Esko, Hieab H.H. Adams, Thomas Meitinger, Andres Ingason, Lude Franke, Rainer Malik, Brenda W.J.H. Penninx, Verneri Anttila, Julie E. Buring, Thomas Hansen, Tobias Kurth, Tim D. Spector, Padhraig Gormley, Mikko Muona, Maija Wessman, Arpo Aromaa, E. Cuenca-Leon, Marjo-Riitta Järvelin, Mikko Kallela, Nicholas A. Furlotte, Linda M. Pedersen, George Davey Smith, Mitja I. Kurki, Aarno Palotie, Reedik Mägi, David P. Strachan, Hailiang Huang, Eija Hämäläinen, Caleb Webber, Nicholas G. Martin, Arn M. J. M. van den Maagdenberg, Zameel M. Cader, Mart Kals, Stacy Steinberg, Markus Färkkilä, Pamela A. F. Madden, Michel D. Ferrari, Grant W. Montgomery, Caroline Ran, Thomas Werge, Lannie Ligthart, Jouke-Jan Hottenga, Kari Stefansson, Tune H. Pers, Bertram Müller-Myhsok, Anine H. Stam, Susan M. Ring, Andres Metspalu, Terho Lehtimäki, Jes Olesen, Andrea Byrnes, Evelin Mihailov, Andrew Heath, Kauko Heikkilä, Jaakko Kaprio, David A. Hinds, Ville Artto, Jie Huang, Maria Gudlaug Hrafnsdottir, Dale R. Nyholt, Evie Stergiakouli, Benjamin M. Neale, Dorret I. Boomsma, Martin Dichgans, Guntram Borck, Kai-How Farh, Christian Kubisch, Cornelia M. van Duijn, André G. Uitterlinden, Albert Hofman, George McMahon, Audun Stubhaug, Kalle Pärn, Priit Palta, Lynn Cherkas, Mark J. Daly, Mari A. Kaunisto, Phil Lee, Ann-Louise Esserlind, Gisela M. Terwindt, Andrea Carmine Belin, Bendik S. Winsvold, Markku Koiranen, Johan G. Eriksson, Minna Männikkö, Olli T. Raitakari, Hreinn Stefansson, Anne Francke Christensen, Juho Wedenoja, Scott G. Gordon, M. Arfan Ikram, Elizabeth Loehrer, Lili Milani

المصدر: Nature Genetics. 48:1296-1296

مصطلحات موضوعية: 0301 basic medicine, Genetics, Published Erratum, MEDLINE, Biology, medicine.disease, Article, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Migraine, Meta-analysis, medicine, Susceptibility locus, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd10cb1827dd39f7c9ed5f61196a67ae
https://doi.org/10.1038/ng1016-1296c

المؤلفون: Alfons Macaya, E. Cuenca-Leon, Manuel Roig, María-Jesús Sobrido, Roser Corominas, M. Ribasés, Bru Cormand, J. López-González, Rogelio Leira, Bernat Narberhaus, Patricia Blanco-Arias

المصدر: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. (1)

مصطلحات موضوعية: Serotonin, Migraine Disorders, Population, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Cellular and Molecular Neuroscience, Genetic variation, Receptor, Serotonin, 5-HT2B, medicine, Genetic predisposition, Humans, Allele, education, Monoamine Oxidase, Genetics (clinical), Genetics, education.field_of_study, Haplotype, Epistasis, Genetic, medicine.disease, Migraine with aura, Psychiatry and Mental health, Migraine, Spain, Case-Control Studies, Dopa Decarboxylase, medicine.symptom, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ebd13adc4710a67d42836dbdb1becf8
https://pubmed.ncbi.nlm.nih.gov/19455600

المؤلفون: E. Cuenca-Leon, Timothy M. Thomson, Bru Cormand, Alfons Macaya

المصدر: Neuropediatrics. 33(6)

مصطلحات موضوعية: Adult, Genetic Markers, Male, Movement disorders, Adolescent, Choreoathetosis, Epilepsy, Genetic linkage, Chorea, Convulsion, medicine, Humans, Child, Athetosis, Genes, Dominant, Genetics, Neurologic Examination, business.industry, Chromosome Mapping, Infant, General Medicine, Paroxysmal dyskinesia, medicine.disease, Pedigree, PNKD, Phenotype, Dyskinesia, Haplotypes, Dystonic Disorders, Spain, Child, Preschool, Chromosomes, Human, Pair 2, Pediatrics, Perinatology and Child Health, Epilepsy, Generalized, Female, Neurology (clinical), medicine.symptom, business, Chromosomes, Human, Pair 16

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0e1147291457081b5bf6f538b63f11c
https://pubmed.ncbi.nlm.nih.gov/12571782

المؤلفون: E. Cuenca-Leon

المصدر: Neuropediatrics; Dec2002, Vol. 33 Issue 6, p288-293, 6p