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1دورية أكاديمية
المؤلفون: Claustre Pont-Sunyer, Alex Iranzo, Carles Gaig, Ana Fernández-Arcos, Dolores Vilas, Francesc Valldeoriola, Yaroslau Compta, Ruben Fernández-Santiago, Manel Fernández, Angels Bayés, Matilde Calopa, Pilar Casquero, Oriol de Fàbregues, Serge Jaumà, Victor Puente, Manel Salamero, Maria José Martí, Joan Santamaría, Eduard Tolosa
المصدر: PLoS ONE, Vol 10, Iss 7, p e0132368 (2015)
وصف الملف: electronic resource
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المؤلفون: Marc, Corral-Juan, Pilar, Casquero, Natalia, Giraldo-Restrepo, Steve, Laurie, Alicia, Martinez-Piñeiro, Raidili Cristina, Mateo-Montero, Lourdes, Ispierto, Dolores, Vilas, Eduardo, Tolosa, Victor, Volpini, Ramiro, Alvarez-Ramo, Ivelisse, Sánchez, Antoni, Matilla-Dueñas
المصدر: Brain communications. 4(2)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::e78c05d3c1481313abaa0e1c5ea6f960
https://pubmed.ncbi.nlm.nih.gov/35310830 -
3
المؤلفون: Dolores Vilas, Meritxell Santos-Montes, Eduardo Tolosa, Coro Paisán-Ruiz, Elena Sánchez, Lucía Argandoña, Pilar Casquero, Luis J. Azcona, Rubén Fernández-Santiago
المصدر: Journal of Parkinson's Disease. 7:459-463
مصطلحات موضوعية: Male, 0301 basic medicine, Levodopa, Parkinson's disease, Carboxy-Lyases, Disease, Bioinformatics, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Humans, Medicine, Genetic Predisposition to Disease, Genetic variability, Aged, business.industry, Parkinson Disease, medicine.disease, Action tremor, ACMSD gene, 030104 developmental biology, Increased risk, Mutation, Mutation (genetic algorithm), Neurology (clinical), business, 030217 neurology & neurosurgery, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4c1e6ce79642f780bbc8f897900296f
https://doi.org/10.3233/jpd-171146 -
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المؤلفون: Miquel Aguilar, Francisco Lomeña, Pilar Casquero, María José Martí, Dolores Vilas, Eduardo Tolosa, Ramiro Álvarez, Francesc Valldeoriola, Jorge Hernández-Vara, José Ríos, Víctor Puente, Claustre Pont-Sunyer, Oriol De Fabregues, Lourdes Ispierto, Yaroslau Compta, Serge Jaumà, Pilar Quílez, Jaume Campdelacreu, Matilde Calopa
المصدر: Parkinsonism & Related Disorders. 21:1170-1176
مصطلحات موضوعية: Adult, Genetic Markers, Male, Heterozygote, medicine.medical_specialty, Pathology, Ultrasonography, Doppler, Transcranial, Population, Substantia nigra, Protein Serine-Threonine Kinases, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Asymptomatic, Gastroenterology, Young Adult, G2019s mutation, Internal medicine, medicine, Humans, education, Aged, Dopamine transporter, Aged, 80 and over, Tomography, Emission-Computed, Single-Photon, Dopamine Plasma Membrane Transport Proteins, education.field_of_study, biology, business.industry, Echogenicity, Parkinson Disease, Middle Aged, LRRK2, Transcranial Doppler, Substantia Nigra, Neurology, Mutation, biology.protein, Female, Neurology (clinical), Geriatrics and Gerontology, medicine.symptom, business
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5
المؤلفون: Elena García-Arumí, Alicia Alonso-Jimenez, Eduard Gallardo, César Ramón-Carbajo, Jordi Díaz-Manera, Amaia Erdocia-Goñi, Pilar Casquero
المصدر: Revista de Neurología. 66:268
مصطلحات موضوعية: business.industry, Diagnostico diferencial, Medicine, Neurology (clinical), General Medicine, business, Humanities
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::da33a75d264526e6c77ed4dd64483022
https://doi.org/10.33588/rn.6608.2017503 -
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المؤلفون: Pilar Casquero, Pablo Villoslada, Jorge R. Oksenberg, Stephen L. Hauser, Lisa F. Barcellos, Xavier Montalban, Ann B. Begovich, Sergio E. Baranzini, Jordi Río, Mar Tintoré, Jaume Sastre-Garriga
المصدر: Journal of Neuroimmunology. 130:194-201
مصطلحات موضوعية: Adult, Male, Multiple Sclerosis, Genetic Linkage, Immunology, Population, Locus (genetics), Human leukocyte antigen, Biology, Cohort Studies, Disability Evaluation, Sex Factors, medicine, Humans, Immunology and Allergy, Genetic Predisposition to Disease, HLA-DR2 Antigen, Lymphocytes, Prospective Studies, Age of Onset, Allele, education, education.field_of_study, Multiple sclerosis, Haplotype, Age Factors, Interferon-beta, Middle Aged, medicine.disease, Neurology, Spain, Cohort, Chromosomes, Human, Pair 6, Female, Neurology (clinical), Age of onset
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المؤلفون: Xavier Montalban, Matías Torrent, Pilar Casquero, Pablo Villoslada
المصدر: Neuroepidemiology. 20:129-133
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Multiple Sclerosis, Disease onset, Epidemiology, Population, Prevalence, government.political_district, Catchment Area, Health, Humans, Medicine, education, education.field_of_study, Balearic islands, business.industry, Incidence, Multiple sclerosis, Incidence (epidemiology), Middle Aged, medicine.disease, Confidence interval, Spain, government, Female, Neurology (clinical), business, Demography
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المؤلفون: Jordi Rosell, H Kruyer, Victor Volpini, Antonia Gaona, Eduard Serra, Elisabet Ars, Xavier Estivill, Pilar Casquero, Conxi Lázaro
المصدر: The American Journal of Human Genetics. 62(4):834-841
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, DNA Mutational Analysis, Locus (genetics), Spinal neurofibromas, Frameshift mutation, Neurofibromatosis, Exon, Spinal neurofibromatosis, Café au lait spot, medicine, Genetics, Humans, Genetics(clinical), Child, Frameshift Mutation, neoplasms, Genetics (clinical), Neurofibromin 1, biology, Proteins, Middle Aged, medicine.disease, eye diseases, nervous system diseases, Pedigree, Spinal Cord, NF1, Phenotype/genotype correlation, Mutation testing, biology.protein, Female, medicine.symptom, Research Article
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المؤلفون: Isidre Ferrer, Francisco Ciruela, Virginia Nunes, Xavier Capdevila-Nortes, Pilar Casquero, Marisol Montolio, Raúl Estévez, Marjo S. van der Knaap, Sònia Sirisi, Tania López-Hernández, Víctor Fernández-Dueñas, Gert C. Scheper
المساهمون: Functional Genomics, Neuroscience Campus Amsterdam - Childhood White Matter Diseases, Pediatric surgery, NCA - Childhood White Matter Diseases, CCA - Oncogenesis, Other departments
المصدر: Human Molecular Genetics, 20(16), 3266-3277. Oxford University Press
López-Hernández, T, Sirisi, S, Capdevila-Nortes, X, Montolio, M, Fernandez-Duenas, V, Scheper, G C, van der Knaap, M S, Casquero, P, Ciruela, F, Ferrer, I, Nunes, V & Estevez, R 2011, ' Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts ', Human Molecular Genetics, vol. 20, no. 16, pp. 3266-3277 . https://doi.org/10.1093/hmg/ddr238
Human molecular genetics, 20(16), 3266-3277. Oxford University Pressمصطلحات موضوعية: Adult, Megalencephalic leukoencephalopathy with subcortical cysts, Cell Cycle Proteins, Biology, Transfection, medicine.disease_cause, Cell junction, Gene product, Fatal Outcome, Genetics, medicine, Animals, Humans, Missense mutation, Protein Structure, Quaternary, Molecular Biology, Genetics (clinical), Mutation, Cysts, Leukodystrophy, Brain, Membrane Proteins, Proteins, General Medicine, Middle Aged, medicine.disease, Rats, Cell biology, Hereditary Central Nervous System Demyelinating Diseases, Protein Transport, HEK293 Cells, Astrocytes, Female, Mutant Proteins, RNA Interference, HeLa Cells, Protein Binding
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7535b4e3cbc1ea5fd2499276fe1f476f
https://research.vu.nl/en/publications/14b9b35e-9490-41b5-a90a-086c4584500e -
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المؤلفون: Josep Lamarca, Pilar Casquero, Adolf Pou
المصدر: Annals of Neurology. 22:268-272
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Mononeuritis Multiplex, Neuritis, Macroglobulinemia, Waldenstrom macroglobulinemia, Sural nerve biopsy, medicine.disease, Cranial nerve involvement, Neurology, Immunology, Medicine, Immunohistochemistry, sense organs, Neurology (clinical), skin and connective tissue diseases, business
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