المؤلفون: Alba Tristán‐Noguero, Irene Fernández‐Carasa, Carles Calatayud, Cristina Bermejo‐Casadesús, Meritxell Pons‐Espinal, Arianna Colini Baldeschi, Leticia Campa, Francesc Artigas, Analia Bortolozzi, Rosario Domingo‐Jiménez, Salvador Ibáñez, Mercè Pineda, Rafael Artuch, Ángel Raya, Àngels García‐Cazorla, Antonella Consiglio

المصدر: EMBO Molecular Medicine, Vol 15, Iss 3, Pp 1-15 (2023)

مصطلحات موضوعية: dopamine, iPSC, L‐Dopa, Parkinsonism, tyrosine hydroxylase deficiency, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

URL الوصول: https://doaj.org/article/e22ef144c32047569cfc1dd967018c9c

المؤلفون: María José Sánchez-Soler, Vanesa López-González, María Juliana Ballesta-Martínez, Jorge Gálvez- Pradillo, Rosario Domingo-Jiménez, Virgina Pérez-Fernández, Encarna Guillén-Navarro

المصدر: Anales de Pediatría (English Edition), Vol 92, Iss 4, Pp 200-207 (2020)

مصطلحات موضوعية: Técnicas de reproducción asistida, Desarrollo psicomotor, Subfertilidad, Transferencia de embrión congelado, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2341287920300296; https://doaj.org/toc/2341-2879

URL الوصول: https://doaj.org/article/a98ad128edea45f7b7f5372dedbe33c9

المؤلفون: Alejandro Ruiz-Riquelme, Sofía Sánchez-Iglesias, Alberto Rábano, Encarna Guillén-Navarro, Rosario Domingo-Jiménez, Adriana Ramos, Isaac Rosa, Ana Senra, Peter Nilsson, Ángel García, David Araújo-Vilar, Jesús R. Requena

المصدر: Neurobiology of Disease, Vol 83, Iss , Pp 44-53 (2015)

مصطلحات موضوعية: Seipin, BSCL2, Neurodegeneration, Lipodystrophy, Intranuclear inclusions, Progressive encephalopathy, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996115300279; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/0eeb5282a371446a80ac9d94445bca0a

المؤلفون: Sofía Sánchez-Iglesias, Alexander Unruh-Pinheiro, Cristina Guillín-Amarelle, Blanca González-Méndez, Alejandro Ruiz-Riquelme, Blanca Leticia Rodríguez-Cañete, Silvia Rodríguez-García, Encarnación Guillén-Navarro, Rosario Domingo-Jiménez, David Araújo-Vilar

المصدر: PLoS ONE, Vol 11, Iss 7, p e0158874 (2016)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4938205?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/f1ab8f95bec942f2a420271d3e3b8676

المؤلفون: Sofía Sánchez-Iglesias, Antía Fernández-Pombo, Silvia Cobelo-Gómez, Álvaro Hermida-Ameijeiras, Helena Alarcón-Martínez, Rosario Domingo-Jiménez, Alejandro Iván Ruíz Riquelme, Jesús R. Requena, David Araújo-Vilar

المصدر: Journal of Clinical Medicine, Vol 10, Iss 1435, p 1435 (2021)

مصطلحات موضوعية: Celia’s encephalopathy, PELD, seipin, BSCL2, congenital generalized lipodystrophy, neurodegeneration, Medicine

Relation: https://www.mdpi.com/2077-0383/10/7/1435; https://doaj.org/toc/2077-0383; https://doaj.org/article/577fad1a527e439e8de1aa7add3f7c97

الاتاحة: https://doi.org/10.3390/jcm10071435
https://doaj.org/article/577fad1a527e439e8de1aa7add3f7c97

المؤلفون: Alba Tristán-Noguero, Irene Fernández-Carasa, Carles Calatayud, Cristina Bermejo-Casadesús, Leticia Campa, Francesc Artigas, Rosario Domingo-Jiménez, Salvador Ibáñez, Mercè Pineda, Rafael Artuch, Ángel Raya, Àngels García-Cazorla, Antonella Consiglio

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e96a114a0eb0153f2809ee6ccfd0b606
https://doi.org/10.1101/2022.02.24.481741

المؤلفون: Chiara Alfonsi, Christian Stephan-Otto, Elisenda Cortès-Saladelafont, Natalia Juliá Palacios, Inés Podzamczer-Valls, Nuria Gutiérrez Cruz, María Rosario Domingo Jiménez, Salvador Ibáñez Micó, Miguel Tomás Vila, Kathrin Jeltsch, Oya Kuseyri Hübschmann, Thomas Opladen, Ramón Velázquez Fragua, Teresa Gómez, Oscar Alcoverro Fortuny, Inmaculada García Jiménez, Eduardo López Laso, Ana Roche Martínez, Jordi Muchart López, Àngels Garcia-Cazorla

المصدر: Neuroradiology
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

مصطلحات موضوعية: Monoamines, Inherited neurotransmitter disorders, Neurotransmitter Agents, amino acids, neuroimaging, Brain, Brain volumetric study, Neuroimaging, monoamines, brain volumetric study, volumetric deficit, Magnetic Resonance Imaging, Humans, Amino acids, Radiology, Nuclear Medicine and imaging, Neurology (clinical), Volumetric deficit, Succinate-Semialdehyde Dehydrogenase, Cardiology and Cardiovascular Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0092aa4fe206f265d43455c6ac0bdecd
https://hdl.handle.net/11573/1670737

المؤلفون: Martínez-Salcedo E, Lourdes Ceán-Cabrera, Elena Martínez-Cayuelas, Rosario Domingo-Jiménez, Alarcón-Martínez H, Salvador Ibáñez-Micó

المصدر: Anales de Pediatría (English Edition), Vol 86, Iss 6, Pp 329-336 (2017)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Health Knowledge, Attitudes, Practice, Autism Spectrum Disorder, education, Terapéutica, Computer-assisted web interviewing, Autistic spectrum, Psiquiatría infantil, Pediatrics, RJ1-570, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Conocimiento, 030225 pediatrics, Management of Technology and Innovation, Statistical significance, Child and adolescent psychiatry, Medical Staff, Hospital, Medicine, Humans, 0501 psychology and cognitive sciences, Young adult, Psychiatry, Child, business.industry, 05 social sciences, Trastorno autístico, Pediatría, Encuesta de salud, Middle Aged, medicine.disease, Comorbidity, Hospitals, Autism spectrum disorder, Spain, Autism, Female, Clinical Competence, business, 050104 developmental & child psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf556dece9557734ded2b808fd0db806
http://www.sciencedirect.com/science/article/pii/S2341287917300789

المؤلفون: Angels García-Cazorla, Melissa Crocker, Miguel Garrido-Pumar, Antonio Rodríguez-Núñez, Rosario Domingo-Jiménez, Julián Álvarez-Escudero, Ana I. Castro, Pablo Aguiar, Álvaro Ruibal, Antía Fernández-Pombo, Rebecca J. Brown, David Araújo-Vilar, Sofía Sánchez-Iglesias, Mar O'Callaghan, Alejandra Darling

المصدر: Neurogenetics

مصطلحات موضوعية: 0301 basic medicine, DNA, Complementary, BSCL2, Encephalopathy, Bioinformatics, Article, Congenital generalized lipodystrophy, 03 medical and health sciences, Cellular and Molecular Neuroscience, Exon, 0302 clinical medicine, Fatal Outcome, Lipodystrophy, Congenital Generalized, GTP-Binding Protein gamma Subunits, Genetics, medicine, Humans, Child, Index case, Genetics (clinical), Brain Diseases, business.industry, Homozygote, Genetic Variation, Neurodegenerative Diseases, Exons, Sequence Analysis, DNA, Fibroblasts, medicine.disease, Alternative Splicing, 030104 developmental biology, Phenotype, Child, Preschool, Myoclonic epilepsy, Female, Lipodystrophy, business, Asymptomatic carrier, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c78324c059181ab3aedec5b42e06f6ff
https://europepmc.org/articles/PMC7288395/

المؤلفون: Andrea Campo, Rosa Navarrete, Mónica Ruiz-Pons, Lucía Martín‐Viota, Celia Medrano, M. Luz Couce, M. Luisa Girós, Luis González-Gutiérrez-Solana, Ignacio Arroyo, M. Jesús Ecay, M. Rosario Domingo‐Jiménez, Celia Pérez-Cerdá, Inmaculada García-Jiménez, Rocío Calvo, Loreto Hierro, Ana I. Vega, Magdalena Ugarte, Susana Roldán, Belén Pérez, M. Teresa García-Silva, Francisco Mártinez‐Bugallo, Dirk Lefeber, J. Cabrera, Miguel Tomás, Mercedes Serrano Gimare, Elena Martín-Hernández, Samuel I. Pascual, Laura Toledo, Isidro Vitoria-Miñana, Mercedes Martínez-Pardo

المصدر: Clinical Genetics, 95, 5, pp. 615-626
CLINICAL GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Clinical Genetics, 95, 615-626
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Glycan, congenital, hereditary, and neonatal diseases and abnormalities, Glycosylation, Adolescent, non-PMM2-CDG, 030105 genetics & heredity, Bioinformatics, Genetic analysis, 03 medical and health sciences, chemistry.chemical_compound, Congenital Disorders of Glycosylation, All institutes and research themes of the Radboud University Medical Center, PGM1, Genetics, medicine, Humans, Child, Genetics (clinical), chemistry.chemical_classification, biology, business.industry, serum transferrin, Infant, DPAGT1, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Hypotonia, 030104 developmental biology, chemistry, Phosphotransferases (Phosphomutases), Spain, Child, Preschool, biology.protein, next-generation sequencing, Female, medicine.symptom, Glycoprotein, business, Phosphomannomutase, congenital disorders of glycosylation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d246b2c5b6da0c6a3a3f9035627572c8
https://hdl.handle.net/2066/203306

المؤلفون: Isaac Rosa, Adriana Ramos, Sofía Sánchez-Iglesias, Encarna Guillén-Navarro, David Araújo-Vilar, Alejandro Ruiz-Riquelme, Ángel García, Ana Senra, Rosario Domingo-Jiménez, Peter Nilsson, Alberto Rábano, Jesús R. Requena

المصدر: Neurobiology of Disease, Vol 83, Iss, Pp 44-53 (2015)

مصطلحات موضوعية: Adult, Male, Proteomics, Heterozygote, Lipodystrophy, BSCL2, Mutant, Biology, Protein aggregation, Endoplasmic Reticulum, medicine.disease_cause, Seipin, lcsh:RC321-571, Protein Aggregates, GTP-Binding Protein gamma Subunits, Adipocytes, medicine, Humans, Intranuclear inclusions, Proteostasis Deficiencies, Neurodegeneration, Child, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Aged, Progressive encephalopathy, Genetics, Brain Diseases, Mutation, Wild type, Brain, Heterozygote advantage, medicine.disease, Molecular biology, Neurology, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::509921b8cd7a687da52696c1cd3ad6a6
http://www.sciencedirect.com/science/article/pii/S0969996115300279

المؤلفون: Mercedes Liñares-Paz, Miguel Garrido-Pumar, Julián Álvarez-Escudero, Blanca González-Méndez, Rosario Domingo-Jiménez, Salvador Ibáñez-Micó, M.A. Martinez-Olmos, María González-Rodríguez, Silvia Rodríguez-García, David Araújo-Vilar, Concepción López-Soler, Cristina Guillín-Amarelle, Álvaro Ruibal, Sofía Sánchez-Iglesias, Antonio Rodríguez-Núñez, Pablo Aguiar

مصطلحات موضوعية: 0301 basic medicine, Leptin, medicine.medical_specialty, Lipodystrophy, BSCL2, Encephalopathy, Gastroenterology, Seipin, Article, 03 medical and health sciences, Metreleptin, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, Cell Line, Tumor, GTP-Binding Protein gamma Subunits, Genetics, medicine, Humans, Child, Genetics (clinical), chemistry.chemical_classification, Brain Diseases, business.industry, Syndrome, medicine.disease, Diet, 030104 developmental biology, chemistry, Docosahexaenoic acid, Fatty Acids, Unsaturated, Female, business, 030217 neurology & neurosurgery, Polyunsaturated fatty acid

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93021fe1f76f0504cd8810a542270ba0
https://europepmc.org/articles/PMC5839047/

المؤلفون: L. Rodriguez-Revenga, María-Socorro Pérez-Poyato, M. Mar García González, Mercé Pineda Marfa, Montserrat Milá Recansens, Ramón Velázquez Fragua, Antonio Martínez-Bermejo, Rafael Camino León, Rosario Domingo Jiménez, Victoria Cusí Sánchez, Raquel Montero Sánchez, Isidre Ferrer Abizanda

المصدر: Journal of Inherited Metabolic Disease. 34:1083-1093

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pathology, Batten disease, Adolescent, DNA Mutational Analysis, Young Adult, Cognition, Neuronal Ceroid-Lipofuscinoses, Internal medicine, Genotype, Genetics, medicine, Humans, Missense mutation, Cognitive decline, Child, Genetics (clinical), Psychomotor learning, business.industry, Mental Disorders, medicine.disease, Genetics, Population, Phenotype, Molecular Diagnostic Techniques, CLN3, Spain, Disease Progression, Female, Neuronal ceroid lipofuscinosis, Age of onset, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6ac52028d4580dc24da4c3126680207
https://doi.org/10.1007/s10545-011-9323-7

المؤلفون: Encarna Guillén-Navarro, Rosario Domingo-Jiménez

المصدر: Anales de Pediatría Continuada. 9:98-105

مصطلحات موضوعية: business.industry, Pediatrics, Perinatology and Child Health, Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9fa80bad82af11ca9b6884f2cb8f9e55
https://doi.org/10.1016/s1696-2818(11)70014-2

المؤلفون: Salvador Ibáñez-Micó, Inmacula Vives-Piñera, Rocío Díaz-Córcoles, María Juliana Ballesta-Martínez, Rosario Domingo-Jiménez

المصدر: Revista de Neurología. 69:433

مصطلحات موضوعية: business.industry, Medicine, Neurology (clinical), General Medicine, business, Humanities

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d941ea8a9c2c134e0f76428541b3b703
https://doi.org/10.33588/rn.6910.2019221

المؤلفون: Elena, Martínez-Cayuelas, Eduardo, Martínez-Salcedo, Helena, Alarcón-Martínez, Alberto, Puche-Mira, Rosario, Domingo-Jiménez, Pedro, de Mingo-Casado, Cristina, Serrano-García

المصدر: Revista de neurologia. 60(7)

مصطلحات موضوعية: Male, Neurologic Examination, Asia, Braces, Electromyography, Neural Conduction, Spinal Muscular Atrophies of Childhood, Magnetic Resonance Imaging, Age Distribution, Early Diagnosis, Spinal Cord, Arm, Disease Progression, Humans, Female, Sex Distribution, Child, Neck

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::92a798c3e8ffa62c6e9dd99384e73556
https://pubmed.ncbi.nlm.nih.gov/25806480

المؤلفون: Elena, Martínez-Cayuelas, Rosario, Domingo-Jiménez, Juan F, Pascual-Gázquez, Eduardo, Martínez-Salcedo, Helena, Alarcón-Martínez, Mar, Bermúdez-Cortés, José L, Fuster-Soler, Virginia, Pérez-Fernández

المصدر: Revista de neurologia. 60(3)

مصطلحات موضوعية: Male, Transplantation Conditioning, Adolescent, Headache, Hematopoietic Stem Cell Transplantation, Brain, Infant, Kaplan-Meier Estimate, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Combined Modality Therapy, Leukemia, Myeloid, Acute, Meninges, Leukemic Infiltration, Seizures, Child, Preschool, Antineoplastic Combined Chemotherapy Protocols, Consciousness Disorders, Humans, Female, Survivors, Cranial Irradiation, Nervous System Diseases, Child, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::e2d9b6578a5c78d1eb58168850423283
https://pubmed.ncbi.nlm.nih.gov/25624086

المؤلفون: Rosario Domingo-Jiménez, María Juliana Ballesta-Martínez, Adriana Ramos, Miguel Garrido-Pumar, Encarna Guillén-Navarro, Lourdes Loidi, Berta Victoria, Alejandro Ruiz-Riquelme, Andrés Beiras, Jesús R. Requena, Pablo Aguiar, Vanesa López-González, Blanca González-Méndez, Alberto Rábano, David Araújo-Vilar, Álvaro Ruibal, Sofía Sánchez-Iglesias

المصدر: Journal of medical genetics. 50(6)

مصطلحات موضوعية: Male, medicine.medical_specialty, Genotype, BSCL2, RNA Splicing, Biology, Compound heterozygosity, medicine.disease_cause, Seipin, Exon, Fatal Outcome, Lipodystrophy, Congenital Generalized, Molecular genetics, GTP-Binding Protein gamma Subunits, Genetics, medicine, Humans, Child, Genetics (clinical), Mutation, Reverse Transcriptase Polymerase Chain Reaction, Neurodegeneration, Exons, medicine.disease, Molecular biology, Phenotype, RNA splicing, Female, HeLa Cells

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51cfad6a330c775c0410c958562da92d
https://pubmed.ncbi.nlm.nih.gov/23564749

المؤلفون: Encarna Guillén-Navarro, Enrique Galán-Gómez, Carlos Alcalde-Martín, María Rosario Domingo-Jiménez, Ramón Cancho-Candela, Olga Alonso-Luengo, María L. Couce

المساهمون: Universidade de Santiago de Compostela. Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia, e Pediatría

المصدر: Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
instname
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Adult, medicine.medical_specialty, Skeletal survey, Ear infection, Iduronate Sulfatase, Disease, Mucopolysaccharidosis type II, X Chromosome Inactivation, Internal medicine, medicine, Humans, Genetics(clinical), Pharmacology (medical), Genetics (clinical), Mucopolysaccharidosis II, Glycosaminoglycans, Anamnesis, Medicine(all), Coarse facial features, business.industry, Research, Iduronate-2-sulfatase, Hunter syndrome, General Medicine, Middle Aged, medicine.disease, Heterozygotes, Cross-Sectional Studies, Immunology, Carriers, Female, X- inactivation, business, Iduronate 2-sulfatase

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bd218bbc7fe3a8121d435b8790d9c30
http://hdl.handle.net/10347/21601

المؤلفون: Alberto Puche Mira, Helena Alarcón Martínez, Eduardo Martinez Salcedo, Rosario Domingo Jiménez, Salvador Ibáñez Micó, Carlos Casas Fernández

المصدر: JIMD Reports ISBN: 9783642257513

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Pediatrics, Ohtahara syndrome, Ataxia, business.industry, Biotinidase deficiency, Biotin deficiency, medicine.disease, Article, Epilepsy, chemistry.chemical_compound, Biotin, chemistry, medicine, Biotinidase activity, medicine.symptom, business, Psychomotor delay

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e91a88142c27a616aca8628605a5652a
https://doi.org/10.1007/8904_2011_74