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المؤلفون: Marie Matignon, Olivier Benveniste, Agathe Masseau, Kim-Heang Ly, Didier Lacombe, Gérard Besson, François Maillot, Christian Lavigne, D. Amelin, Esther Noel, Foudil Lamari, Catherine Caillaud, Wladimir Mauhin, Hélène Maillard, Olivier Lidove, C. Montagner, Thierry Zenone, Marjolaine Willems, Vanessa Leguy-Seguin, Pauline D’Halluin, Bertrand Dussol, Fabien Labombarda, Claire Douillard
المساهمون: Groupe Hospitalier Diaconesses Croix Saint-Simon, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service de médecine interne [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Service de Biochimie Métabolique [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Service de biochimie métabolique [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Hôpital Jeanne de Flandres, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Aix Marseille Université (AMU), Centre d'Investigation Clinique [Hôpital de la Conception - APHM] (CIC), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), Assistance Publique - Hôpitaux de Marseille (APHM), Service de médecine interne et immunologie clinique (SOC 1) [CHU de Dijon], Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Le CHCB, Centre Hospitalier de la Côte Basque, CHU Strasbourg, Centre hospitalier de Valence, Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-IFR10, Groupe Henri Mondor-Albert Chenevier, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Hôpital Albert Chenevier, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire [Grenoble] (CHU), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de médecine interne [Nantes], Université de Nantes (UN)-Hôtel-Dieu-Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), CHU Bordeaux [Bordeaux], Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Claude Huriez [Lille], CHU Lille, Service de Département de médecine interne et immunologie clinique [CHU Pitié-Salpêtrière] (DMIIC), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Centre de Recherche en Myologie, Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier de la Côte Basque (CHCB)
المصدر: PLoS ONE
PLoS ONE, Public Library of Science, 2020, 15 (5), pp.e0233460. ⟨10.1371/journal.pone.0233460⟩
PLoS ONE, Vol 15, Iss 5, p e0233460 (2020)
PLoS ONE, 2020, 15 (5), pp.e0233460. ⟨10.1371/journal.pone.0233460⟩مصطلحات موضوعية: Hydrolases, 030232 urology & nephrology, Otology, 030204 cardiovascular system & hematology, Deafness, Pathology and Laboratory Medicine, Vascular Medicine, Biochemistry, Cornea, Cohort Studies, 0302 clinical medicine, Lysosomal storage disease, Medicine and Health Sciences, Renal Transplantation, Cornea verticillata, Prospective Studies, Registries, Hearing Disorders, Multidisciplinary, Proteinuria, Hypertrophic cardiomyopathy, Middle Aged, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Phenotype, 3. Good health, Enzymes, Stroke, Neurology, Medicine, Female, France, medicine.symptom, Anatomy, Cardiomyopathies, Research Article, Adult, medicine.medical_specialty, Glycoside Hydrolases, Science, Ocular Anatomy, Cerebrovascular Diseases, Cardiology, Surgical and Invasive Medical Procedures, Urinary System Procedures, 03 medical and health sciences, Young Adult, Signs and Symptoms, Ocular System, Diagnostic Medicine, Internal medicine, medicine, Genetics, Humans, Paresthesia, Acroparesthesia, Transplantation, business.industry, Biology and Life Sciences, Proteins, Human Genetics, Organ Transplantation, medicine.disease, Fabry disease, Human genetics, Otorhinolaryngology, Enzymology, Fabry Disease, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6548e833adef8aed2cbae0f87965da0Test
https://hal.sorbonne-universite.fr/hal-02871577/documentTest -
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المؤلفون: Christelle Corne, Laetitia Van Noolen, François Maillot, Patrice Faure, Lysiane Boulet, Gérard Besson
المصدر: Journal of inherited metabolic diseaseREFERENCES. 43(5)
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Population, Phenylalanine, 03 medical and health sciences, chemistry.chemical_compound, Kynurenic acid, Tandem Mass Spectrometry, Internal medicine, Phenylketonurias, Genetics, medicine, Humans, Prospective Studies, education, Genetics (clinical), 030304 developmental biology, 0303 health sciences, education.field_of_study, business.industry, 030305 genetics & heredity, Tryptophan, nutritional and metabolic diseases, Metabolism, medicine.disease, Endocrinology, chemistry, Inborn error of metabolism, Female, France, business, Kynurenine, Blood Chemical Analysis, Cohort study, Chromatography, Liquid
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9dd8b504534924f78c23dce3542ebd93Test
https://pubmed.ncbi.nlm.nih.gov/32392388Test -
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المؤلفون: Gérard Besson, Véronique Ducros, Lysiane Boulet, Patrice Faure, Christelle Corne
المصدر: Annales de biologie clinique. 76:150-156
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Phenylalanine hydroxylase, Population, Phenylalanine, 030105 genetics & heredity, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, Predictive Value of Tests, Reference Values, Tandem Mass Spectrometry, Phenylketonurias, Internal medicine, medicine, Humans, education, education.field_of_study, biology, business.industry, Tryptophan, General Medicine, Metabolism, Middle Aged, Tryptophan Metabolism, medicine.disease, Endocrinology, chemistry, Inborn error of metabolism, Case-Control Studies, Metabolome, biology.protein, Female, business, Blood Chemical Analysis, Kynurenine, Chromatography, Liquid
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d063a4cc7d1793a4751b3ab44e2271dTest
https://doi.org/10.1684/abc.2018.1334Test -
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المؤلفون: Heloise Pierdet, Claire Douillard, Dominique Roland, Fanny Duval, Yann Nadjar, Giovanni Castelnovo, Daniele Mandia, Philippe Giral, Jean-Michel Lecerf, Jonathan Curot, Annabelle Chaussenot, Gérard Besson, Foudil Lamari
المصدر: Journal of neurology. 266(8)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Cerebrotendineous xanthomatosis, Population, Cholic Acid, Cerebrotendinous Xanthomatosis, Gastroenterology, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, Chenodeoxycholic acid, medicine, Humans, 030212 general & internal medicine, Cognitive decline, Adverse effect, education, Retrospective Studies, education.field_of_study, business.industry, Cholestanol, Cholic acid, Xanthomatosis, Cerebrotendinous, Middle Aged, medicine.disease, Cholesterol, Treatment Outcome, Neurology, chemistry, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61cc4a920e3fe10a22418c105b2f29b3Test
https://pubmed.ncbi.nlm.nih.gov/31781930Test -
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المؤلفون: Helene-Farnase Jafari-Schluep, Gérard Besson, William Camu, Valerie Briolotti, Philippe Corcia, Véronique Mayeux
المصدر: Annals of Neurology. 53:815-818
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pathology, SOD1, Gene Expression, Gastroenterology, Genetic determinism, Central nervous system disease, Superoxide dismutase, Superoxide Dismutase-1, Degenerative disease, Internal medicine, Humans, Point Mutation, Medicine, Age of Onset, Amyotrophic lateral sclerosis, Aged, Aged, 80 and over, biology, Superoxide Dismutase, business.industry, Genetic Carrier Screening, Point mutation, Amyotrophic Lateral Sclerosis, Middle Aged, medicine.disease, Pedigree, Neurology, biology.protein, Female, Neurology (clinical), Age of onset, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c00968b5d5de1ceaf75c28b90030950Test
https://doi.org/10.1002/ana.10605Test -
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المؤلفون: Marc Hommel, Perret J, Valérie Fraix, Gérard Besson
المصدر: Cerebrovascular Diseases. 12:34-38
مصطلحات موضوعية: Male, Weakness, medicine.medical_specialty, Heart disease, Facial Muscles, Infarction, Motor Activity, Lesion, Risk Factors, Internal medicine, Diabetes mellitus, medicine, Humans, Prospective Studies, cardiovascular diseases, Prospective cohort study, Stroke, Aged, Aged, 80 and over, Muscle Weakness, business.industry, Brain, Middle Aged, medicine.disease, Stenosis, Neurology, cardiovascular system, Cardiology, Female, Neurology (clinical), medicine.symptom, Cardiology and Cardiovascular Medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2312e65002fe244dc715e7fe967ea1cfTest
https://doi.org/10.1159/000047678Test -
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المؤلفون: Marc Hommel, Gérard Besson, Perret J
المصدر: Cerebrovascular Diseases. 10:387-390
مصطلحات موضوعية: Male, medicine.medical_specialty, Heart Diseases, Age Distribution, Risk Factors, Internal medicine, Prevalence, medicine, Humans, Carotid Stenosis, Prospective Studies, cardiovascular diseases, Sex Distribution, Stroke, Vertebral Artery, Aged, Aged, 80 and over, business.industry, Cerebral Infarction, Middle Aged, medicine.disease, nervous system diseases, body regions, Lacunar Infarcts, Neurology, Basilar Artery, Multivariate Analysis, Cardiology, Physical therapy, Female, Neurology (clinical), Cardiology and Cardiovascular Medicine, business, Carotid Artery, Internal
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25a11e94c9805f5a891c4ef6a436ead1Test
https://doi.org/10.1159/000016095Test -
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المؤلفون: Candice Trocme, Athan Baillet, Vanessa Chanteperdrix, Pierre Casez, Catherine Garrel, Gérard Besson
المصدر: Neurochemical research. 35(10)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Antioxidant, medicine.medical_treatment, medicine.disease_cause, Biochemistry, Antioxidants, Superoxide dismutase, Lipid peroxidation, Cellular and Molecular Neuroscience, chemistry.chemical_compound, Sex Factors, Internal medicine, medicine, Humans, chemistry.chemical_classification, Glutathione Peroxidase, biology, Chemistry, Superoxide Dismutase, Glutathione peroxidase, Neurodegeneration, Amyotrophic Lateral Sclerosis, Age Factors, Parkinson Disease, General Medicine, Glutathione, Middle Aged, medicine.disease, Malondialdehyde, Trace Elements, Oxidative Stress, Endocrinology, Immunology, Multivariate Analysis, biology.protein, Female, Oxidative stress, Biomarkers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6d0387ce1fc4959f11d4f093e5e0655Test
https://pubmed.ncbi.nlm.nih.gov/20535556Test -
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المؤلفون: Jean-Michel Mallion, F. Tremel, Jean-Philippe Baguet, Gérard Besson, Lionel Mangin, Christelle Richardot
المصدر: Cerebrovascular diseases (Basel, Switzerland). 12(4)
مصطلحات موضوعية: medicine.medical_specialty, Ultrasonography, Doppler, Transcranial, media_common.quotation_subject, digestive system, Heart Septal Defects, Atrial, stomatognathic system, Internal medicine, medicine, Contrast (vision), Humans, Ischemic Cerebrovascular Accident, Stroke, media_common, business.industry, digestive, oral, and skin physiology, musculoskeletal system, medicine.disease, Transcranial Doppler, body regions, Neurology, Echocardiography, Cardiology, Patent foramen ovale, Neurology (clinical), Radiology, Cardiology and Cardiovascular Medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7608c868d53809938483c9e8eee6747Test
https://pubmed.ncbi.nlm.nih.gov/11721102Test -
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المؤلفون: J. E. F. Perret, I Clavier, Marc Hommel, B. Noelle, Gérard Besson
المصدر: Stroke. 25(10)
مصطلحات موضوعية: Male, medicine.medical_specialty, Time Factors, Cardiomegaly, Hemiplegia, Central nervous system disease, Diabetes Complications, Recurrence, Internal medicine, Activities of Daily Living, medicine, Diabetes Mellitus, Humans, Medical history, cardiovascular diseases, Survival rate, Stroke, Aged, Advanced and Specialized Nursing, medicine.diagnostic_test, Vascular disease, business.industry, Cerebral infarction, Smoking, Age Factors, Magnetic resonance imaging, Cerebral Infarction, medicine.disease, Prognosis, Surgery, Hospitalization, Survival Rate, Hemiparesis, Sensation Disorders, Female, Neurology (clinical), medicine.symptom, Cardiology and Cardiovascular Medicine, business, Follow-Up Studies, Forecasting
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f91d7bb1e2ee871f600bc75049d89153Test
https://pubmed.ncbi.nlm.nih.gov/8091445Test