المؤلفون: Helen Leonard, Peter Jacoby, Mercedes Pineda, Ami Bebbington, Alison Anderson, B. Ben Zeev, John Christodoulou, Gavin Ho, Eric Smeets, Alan K. Percy, David Ravine, Nadia Bahi-Buisson

المساهمون: RS: GROW - School for Oncology and Reproduction, Genetica & Celbiologie

المصدر: Journal of Medical Genetics, 47(4), 242-248. BMJ Publishing Group

مصطلحات موضوعية: Adult, Adolescent, Databases, Factual, Methyl-CpG-Binding Protein 2, Population, Rett syndrome, Biology, Severity of Illness Index, Article, MECP2, Degenerative disease, Genotype-phenotype distinction, Genotype, Severity of illness, Genetics, medicine, Rett Syndrome, Humans, education, Child, Genetics (clinical), education.field_of_study, Chi-Square Distribution, Infant, Middle Aged, medicine.disease, Phenotype, Child, Preschool, Multivariate Analysis, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d94e88d50df262eefa181566612e12a3Test
https://cris.maastrichtuniversity.nl/en/publications/605107cd-562f-4cf5-b284-e9eaaf88cfd6Test

المؤلفون: C Esteves, Roser Urreizti, Aurelio A. Moya-García, Almudena Pino-Angeles, A Baldellou, Laura Vilarinho, Antonia Ribes, Mónica Cozar, Francisca Sánchez-Jiménez, Jose R. Arribas, Daniel Grinberg, Anne Langkilde, Mercedes Pineda, Brian Fowler, Verónica González, Rafael Artuch, Susana Balcells, Belén Pérez-Dueñas, M. A. Vilaseca, U Fanhoe

المصدر: Clinical genetics. 78(5)

مصطلحات موضوعية: Adult, Male, Models, Molecular, medicine.medical_specialty, Hyperhomocysteinemia, Adolescent, Methylenetetrahydrofolate reductase deficiency, Nonsense mutation, Homocystinuria, Biology, Reductase, Mefolinate, Central nervous system disease, Structure modelling, Fatal Outcome, Internal medicine, Genetics, medicine, Missense mutation, NMD, Humans, Genetics (clinical), Methylenetetrahydrofolate Reductase (NADPH2), Tetrahydrofolates, Infant, medicine.disease, Doenças Genéticas, Treatment, Betaine, Endocrinology, Methylenetetrahydrofolate reductase, Child, Preschool, MTHFR, biology.protein, Deficiency, Thermodynamics, Female, Mutations

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84ac3a40867186854e3290f4c189cd73Test
https://pubmed.ncbi.nlm.nih.gov/20236116Test

المؤلفون: Anna López-Sala, Antonia Ribes, M. A. Vilaseca, L. Ozaez, Jaime Campistol, Angela Arias, M. Lluch, Angela Sempere, Carmen Fons, Rafael Artuch, J. Garcia-Villoria, A. Mas, Mercedes Pineda, P Póo

المصدر: Molecular genetics and metabolism. 99(3)

مصطلحات موضوعية: medicine.medical_specialty, Magnetic Resonance Spectroscopy, Endocrinology, Diabetes and Metabolism, Creatine, Blood–brain barrier, Biochemistry, Cell Line, Creatine ethyl ester, chemistry.chemical_compound, Endocrinology, In vivo, Internal medicine, Genetics, medicine, Humans, Fibroblast, Molecular Biology, Brain, Membrane Transport Proteins, Fibroblasts, Guanidinoacetate N-methyltransferase, medicine.anatomical_structure, Treatment Outcome, chemistry, Mental Retardation, X-Linked, Creatine Monohydrate, Arginine:glycine amidinotransferase, hormones, hormone substitutes, and hormone antagonists

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0800b885777f93ec6dbb3c3b513b4f61Test
https://pubmed.ncbi.nlm.nih.gov/19955008Test

المؤلفون: Julio Montoya, Ester López-Gallardo, María Teresa García-Silva, Eduardo Ruiz-Pesini, Aida Ormazabal, Paz Briones, Ana Martinez-Aragón, Maria del Mar O’Callaghan, Mercedes Serrano, Rafael Artuch, Mercedes Pineda, Elena Martín-Hernández, Alberto Blázquez, Pilar Quijada, Miguel A. Martín

المصدر: Mitochondrion. 10(5)

مصطلحات موضوعية: Adult, medicine.medical_specialty, Biogenic Amines, Adolescent, Kearns-Sayre Syndrome, Biology, Basal Ganglia, White matter, Kearns–Sayre syndrome, chemistry.chemical_compound, Young Adult, Cerebrospinal fluid, Internal medicine, Cerebellum, Basal ganglia, medicine, Humans, Child, Molecular Biology, Cerebrum, Tetrahydrofolates, Cerebrospinal Fluid, Homovanillic acid, Brain, Proteins, Homovanillic Acid, Cell Biology, medicine.disease, Magnetic Resonance Imaging, Hyperintensity, Radiography, Endocrinology, medicine.anatomical_structure, chemistry, Molecular Medicine, Choroid plexus, Brainstem, Brain Stem

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9960a21c2b330edec6b8a6b46d6426eaTest
https://pubmed.ncbi.nlm.nih.gov/20388557Test

المؤلفون: Maria Antonia Vilaseca, Carmen Fons, José Antonio Arranz, Mercedes Serrano, Mercedes Pineda, Belén Pérez-Dueñas, Empar Murgui, Lilian Gómez-López, Johannes Häberle, Jaume Campistol, Angels García-Cazorla, Rafael Artuch, Fernando Jara, Paz Briones, Cecilia Martins

المصدر: Journal of Child Neurology

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Urea cycle disorder, Adolescent, Carbamoyl-Phosphate Synthase I Deficiency Disease, Glutamine, Late onset, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Medicine, Attention deficit hyperactivity disorder, Humans, Language disorder, Age of Onset, Child, Urea Cycle Disorders, Inborn, Retrospective Studies, 0303 health sciences, Citrullinemia, business.industry, Mental Disorders, 030305 genetics & heredity, medicine.disease, 3. Good health, Ornithine Carbamoyltransferase Deficiency Disease, Quaternary Ammonium Compounds, Endocrinology, Treatment Outcome, Urea cycle, Child, Preschool, Pediatrics, Perinatology and Child Health, Delirium, Autism, Female, Neurology (clinical), Age of onset, medicine.symptom, business, 030217 neurology & neurosurgery, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92c4662bb6941d875b838c50831050c5Test
https://pubmed.ncbi.nlm.nih.gov/19684305Test

المؤلفون: Juliette Nectoux, R De Filippis, Judith Armstrong, Z Krumina, E Gak, A Spanhol-Rosseto, Alessandra Renieri, Francesca Mari, T Bienvenu, Rosangela Artuso, D Rondinella, R Rubinsztajn, Francesca Ariani, Anne Moncla, Brigitte Chabrol, M.A. Mencarelli, Laurent Villard, Mercedes Pineda, Ana Roche, Nadia Bahi-Buisson

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Microcephaly, business.industry, Methyl-CpG-Binding Protein 2, CDKL5, Rett syndrome, Forkhead Transcription Factors, Nerve Tissue Proteins, medicine.disease, Hypotonia, MECP2, FOXG1, Epilepsy, Neurodevelopmental disorder, Child, Preschool, Mutation, Genetics, medicine, Rett Syndrome, Humans, Female, medicine.symptom, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21171ddc90ba564dbf722a4f1ae3d693Test
http://hdl.handle.net/11391/1231747Test

المؤلفون: P Póo, U. Moog, Georg F. Hoffmann, Angels García-Cazorla, Mercedes Pineda, Mercedes Serrano, Nicole I. Wolf, Jaime Campistol, Belén Pérez-Dueñas

المساهمون: Pediatric surgery, NCA - Childhood White Matter Diseases

المصدر: Garcia-Cazorla, A, Wolf, N I, Serrano, M, Moog, U, Perez-Duenas, B, Poo, P, Pineda, M, Campistol, J & Hoffmann, G F 2009, ' Mental retardation and inborn errors of metabolism ', Journal of Inherited Metabolic Disease, vol. 32, no. 5, pp. 597-608 . https://doi.org/10.1007/s10545-009-0922-5Test
Journal of Inherited Metabolic Disease, 32(5), 597-608. Springer Netherlands

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Newborn screening, business.industry, Infant, Newborn, Ethnic populations, Cerebellar dysfunction, medicine.disease, Human genetics, Recurrence risk, Developmental disorder, Epilepsy, Neonatal Screening, Intellectual Disability, Practice Guidelines as Topic, Genetics, Humans, Medicine, In patient, business, Psychiatry, Algorithms, Metabolism, Inborn Errors, Genetics (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2714a4a2f2144ec66c207b7365c2efefTest
https://research.vumc.nl/en/publications/4f27ea37-e712-4f4f-9db6-e8540f4aab2aTest

المؤلفون: Mercedes Pineda, Sofia T. Duarte, Pere Sala-Castellvi, Andrés Nascimento, Rafael Garesse, Julio Montoya, Angels García-Cazorla, Rafael Artuch, Ines Carrilho, Aida Ormazabal, Paz Briones, Mercedes Serrano

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
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مصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, Mitochondrial Diseases, Mitochondrial disease, Dopamine Agents, Hypomimia, Respiratory chain, Biology, Diagnosis, Differential, Levodopa, Consanguinity, Electron Transport Complex III, Cerebrospinal fluid, Hypokinesia, Internal medicine, medicine, Humans, Lactic Acid, Molecular Biology, Dystonia, Neurotransmitter Agents, Alanine, Electron Transport Complex I, Electron Transport Complex II, Infant, Newborn, Brain, Infant, Homovanillic Acid, Cell Biology, Hydroxyindoleacetic Acid, medicine.disease, Pterins, Radiography, Endocrinology, Treatment Outcome, Child, Preschool, Molecular Medicine, Female, medicine.symptom, Differential diagnosis, Myoclonus

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69756a73c30e73d6621a18a951f736d7Test
https://pubmed.ncbi.nlm.nih.gov/18558519Test

المؤلفون: Mercedes Pineda, M. Baquero, A. R-Palmero, M.S. van der Knaap, A. Aracil, G.C. Scheper, Maria del Mar O’Callaghan

المساهمون: Neuroscience Campus Amsterdam 2008, Other departments, Pediatric surgery

المصدر: Pineda, M, Palmero, A, Baquero, M, O'Callaghan, M, Aracil, A, van der Knaap, M S & Scheper, G C 2008, ' Vanishing white matter disease associated with progressive macrocephaly ', Neuropediatrics, vol. 39, no. 1, pp. 29-32 . https://doi.org/10.1055/s-2008-1076738Test
Neuropediatrics, 39(1), 29-32. Hippokrates Verlag GmbH

مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Adolescent, Cerebellar Ataxia, Eukaryotic Initiation Factor-2, Disease, White matter, Central nervous system disease, Leukoencephalopathy, SDG 3 - Good Health and Well-being, medicine, Humans, Megalencephaly, Child, medicine.diagnostic_test, business.industry, Macrocephaly, Brain, Magnetic resonance imaging, General Medicine, Prognosis, medicine.disease, Magnetic Resonance Imaging, Hereditary Central Nervous System Demyelinating Diseases, Phenotype, medicine.anatomical_structure, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Age of onset, medicine.symptom, Tomography, X-Ray Computed, business, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61d5b18b3189f29f4f830e226e64706dTest
https://research.vumc.nl/en/publications/35307337-c1df-4eb2-b35f-16eeaf958db7Test

المؤلفون: Joaquín Arenas, Edward V. Quadros, María Teresa García-Silva, A. Nascimento, Mercedes Pineda, Jeffrey M. Sequeira, Angeles Garcia-Cazorla, Rafael Artuch, Nenad Blau, Paz Briones, Aida Ormazabal, Vincent Ramaekers, Julio Montoya

المساهمون: University of Zurich, Garcia-Cazorla, A

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Mitochondrial Diseases, Ataxia, Adolescent, Mitochondrial disease, Encephalopathy, 610 Medicine & health, Folic Acid Deficiency, Gastroenterology, Mitochondrial myopathy, Internal medicine, medicine, Humans, Child, Stroke, Tetrahydrofolates, business.industry, Autoantibody, Brain, Infant, medicine.disease, Endocrinology, 2728 Neurology (clinical), 10036 Medical Clinic, Child, Preschool, Lactic acidosis, Female, Choroid plexus, Neurology (clinical), medicine.symptom, business

وصف الملف: Garcia-Cazorla_Neurology_2008-1.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5478faaa72c7a747976a53edbee6102eTest
https://www.zora.uzh.ch/id/eprint/4323Test/