المؤلفون: Magalie Barth, Claire Sechter, Anne-Frédérique Dessein, Marie-Christine Minot-Myhié, Gilbert Briand, Claire Douillard, Arnaud Lacour, Delphine Lamireau, Christine Vianey-Saban, Marie Joncquel-Chevalier Curt, Monique Fontaine, Karine Mention-Mulliez, Joseph Vamecq, Niels Gregersen, Isabelle Redonnet-Vernhet, Pascale de Lonlay, Alice Kuster, Cécile Acquaviva, Dries Dobbelaere

المساهمون: Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National de la Recherche Agronomique (INRA), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: Dessein, A-F, Fontaine, M, Joncquel-Chevalier Curt, M, Briand, G, Sechter, C, Mention-Mulliez, K, Dobbelaere, D, Douillard, C, Lacour, A, Redonnet-Vernhet, I, Lamireau, D, Barth, M, Minot-Myhié, M-C, Kuster, A, de Lonlay, P, Gregersen, N, Acquaviva, C, Vianey-Saban, C & Vamecq, J 2017, ' Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants ', Clinica chimica acta; international journal of clinical chemistry, vol. 471, pp. 101-106 . https://doi.org/10.1016/j.cca.2017.05.026Test
Clinica Chimica Acta
Clinica Chimica Acta, Elsevier, 2017, 471, pp.101-106. ⟨10.1016/j.cca.2017.05.026⟩

مصطلحات موضوعية: 0301 basic medicine, Male, ACADS pathogenic mutation, [SDV]Life Sciences [q-bio], Clinical Biochemistry, Palmitic Acid, Dehydrogenase, SCAD functional, Compound heterozygosity, SCAD GENE, Biochemistry, Acyl-CoA Dehydrogenase, chemistry.chemical_compound, POPULATION, chemistry.chemical_classification, NEWBORN BLOOD SPOTS, ACADS Short-chain acyl-CoA dehydrogenase [SCAD], education.field_of_study, In situ fluxomic assessment, General Medicine, Mitochondria, DEFICIENCY, Phenotype, Child, Preschool, Female, Oxidation-Reduction, impairment, Genotype, Population, ACADS susceptibility variants (c.511C \textgreater T, SCAD deficiency, Biology, FREQUENCY, Polymorphism, Single Nucleotide, ACADS, 03 medical and health sciences, Biosynthesis, Journal Article, Humans, Genetic Predisposition to Disease, education, Gene, COMMON, Biochemistry (medical), Infant, Newborn, Fatty acid, Infant, Molecular biology, of protein function, Metabolic Flux Analysis, 030104 developmental biology, Enzyme, chemistry, and c.625G \textgreater A)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b7e1f694689d47fbb9ea3ffac5ba347Test
https://pubmed.ncbi.nlm.nih.gov/28532786Test

المؤلفون: Andoni Echaniz-Laguna, Stéphane Kremer, Béatrice Lannes, Christine Tranchant, L. Ballonzoli, Izzie Jacques Namer, Jean-Baptiste Chanson, Frédéric Blanc, Patrick Vermersch, Jérôme De Seze, Arnaud Lacour

المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 84:392-397

مصطلحات موضوعية: Central Nervous System, Male, Pathology, medicine.medical_specialty, Magnetic Resonance Spectroscopy, Neuromuscular disease, Central nervous system, Neuropsychological Tests, Creatine, Cohort Studies, White matter, Disability Evaluation, Young Adult, chemistry.chemical_compound, Gene duplication, Fractional anisotropy, Image Processing, Computer-Assisted, medicine, Humans, Prospective Studies, Aged, Brain Chemistry, Neurologic Examination, Aspartic Acid, business.industry, Fornix, Brain, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Psychiatry and Mental health, Diffusion Magnetic Resonance Imaging, medicine.anatomical_structure, Spinal Cord, chemistry, Tandem Repeat Sequences, Peripheral nervous system, Mutation, Female, Surgery, Neurology (clinical), Cognition Disorders, business, Myelin Proteins

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d24e58f92b64891ae7851d457621fc34Test
https://doi.org/10.1136/jnnp-2012-303725Test

المؤلفون: Julie Fulcrand, Aurore Gouraud, Marine Auffret, Arnaud Lacour, Sophie Gautier

المصدر: Therapies. 68:329-331

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Duloxetine Hydrochloride, medicine.disease, Gastroenterology, chemistry.chemical_compound, Microscopic colitis, chemistry, Internal medicine, medicine, Duloxetine, Pharmacology (medical), Microscopic pathology, Colitis, business, Adverse drug reaction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2092d8616df1b9c7833482766affab11Test
https://doi.org/10.2515/therapie/2013052Test

المؤلفون: Vincent Mouly, Isabelle Marty, Julien Fauré, Renée Krivosic, Nathalie Roux-Buisson, Joël Lunardi, Arnaud Lacour, Julie Brocard, Nicole Monnier, Paul D. Allen, Anne-Sophie Wozny, Marine Cacheux, Muriel Sébastien, Kamel Mamchaoui, John Rendu, Ariane Blum

المساهمون: INSERM U836, équipe 4, Muscles et pathologies, Grenoble Institut des Neurosciences (GIN), Université Joseph Fourier - Grenoble 1 (UJF)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Joseph Fourier - Grenoble 1 (UJF)-Institut National de la Santé et de la Recherche Médicale (INSERM), Thérapie des maladies du muscle strié, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Joseph Fourier - Grenoble 1 (UJF), Laboratoire de biochimie et génétique moléculaire, CHU Grenoble, Département Anesthésie-Réanimation, Hôpital Roger Salengro, CHRU de Lille, Hôpital Roger Salengro, CHRU de Lille, Lille, France, Department of Molecular Biosciences, Department of Molecular Biosciences [Oslo], Faculty of Mathematics and Natural Sciences [Oslo], University of Oslo (UiO)-University of Oslo (UiO)-Faculty of Mathematics and Natural Sciences [Oslo], University of Oslo (UiO)-University of Oslo (UiO), Département de neurologie [Lille], Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Roux-Buisson, Nathalie, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Neurologie, Hôpital Roger Salengro

المصدر: Journal of Neuromuscular Diseases
Journal of Neuromuscular Diseases, 2015, 202 (4), pp.421-432. ⟨10.3233/JND-150073⟩
Journal of Neuromuscular Diseases, IOS Press, 2015, 202 (4), pp.421-432. ⟨10.3233/JND-150073⟩

مصطلحات موضوعية: Research Report, medicine.medical_specialty, [SDV]Life Sciences [q-bio], chemistry.chemical_element, Biology, Calcium, medicine.disease_cause, Malignant hyperthermia, Calcium imaging, Central Core Disease, Internal medicine, medicine, RYR1, Mutation, Ryanodine receptor, Calcium channel, Muscle weakness, medicine.disease, musculoskeletal system, [SDV] Life Sciences [q-bio], Endocrinology, Neurology, Biochemistry, chemistry, Neurology (clinical), medicine.symptom, tissues, calcium release

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c81e70ca60002847a7b4f2e57ddcaa9Test
https://www.hal.inserm.fr/inserm-01216714Test

المؤلفون: Vincent Huin, Kathy Dupont, Francis Vasseur, Nicolas Sergeant, Arnaud Lacour, Patrick Devos, Hélène Hofmann-Radvanyi, Luc Buée, Claire-Marie Dhaenens, Susanna Schraen-Maschke, Bernard Sablonnière

المساهمون: Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U837 (JPArc), Université Lille Nord de France (COMUE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Santé Publique : épidémiologie et qualité des soins (EA 2694), Faculté de Médecine Henri Warembourg - Université de Lille-Centre d'Etudes et de Recherche en Informatique Médicale [Lille] (CERIM), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), HUIN, Vincent

المصدر: Journal of Neurology
Journal of Neurology, 2013, 260 (4), pp.998-1003. ⟨10.1007/s00415-012-6740-y⟩

مصطلحات موضوعية: musculoskeletal diseases, Adult, Male, Candidate gene, congenital, hereditary, and neonatal diseases and abnormalities, Genotype, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Single-nucleotide polymorphism, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Biology, Protein Serine-Threonine Kinases, MBNL1 gene variants, Myotonic dystrophy, Polymorphism, Single Nucleotide, chemistry.chemical_compound, Young Adult, Gene Frequency, medicine, MBNL1, Humans, Myotonic Dystrophy, Genetic Predisposition to Disease, Gene, Allele frequency, Disease severity, Genetic Association Studies, Genetics, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, RNA-Binding Proteins, Middle Aged, medicine.disease, Phenotype, Neurology, chemistry, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Case-Control Studies, Regression Analysis, Female, Neurology (clinical), Trinucleotide Repeat Expansion, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::445e7394e0436ac1b4f610d7e88d4827Test
https://pubmed.ncbi.nlm.nih.gov/23161457Test

المؤلفون: Dries Dobbelaere, Jérôme De Seze, Jean-Marie Cuisset, Vincent Deramecourt, Anne-Catherine Lepoutre, Arnaud Lacour, Marilyne Cabaret, Brian Fowler, Tanya Stojkovic, Hélène Zéphir, Olivier Outteryck, S. Delalande, Patrick Vermersch

المصدر: Neurology. 79(4)

مصطلحات موضوعية: Adult, medicine.medical_specialty, Homocystinuria, Cobalamin, 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase, Leukoencephalopathy, chemistry.chemical_compound, Leukoencephalopathies, Internal medicine, medicine, Humans, Methionine synthase, Amino Acid Metabolism, Inborn Errors, biology, business.industry, Brain, medicine.disease, Adenosylcobalamin, Endocrinology, chemistry, Methylmalonic aciduria, Hypomethioninemia, Methylcobalamin, biology.protein, Female, Neurology (clinical), business, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8caf3754538f153152e72fa996d598cdTest
https://pubmed.ncbi.nlm.nih.gov/22786600Test

المؤلفون: Zoltan Lukacs, Pascal Laforêt, Karen Lindhardt Madsen, Nicolai Preisler, Regitze Sølling Hansen, Mette Cathrine Ørngreen, John Vissing, Arnaud Lacour

المصدر: Molecular genetics and metabolism. 107(3)

مصطلحات موضوعية: Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Physical Exertion, Glycogenolysis, Carbohydrate metabolism, Biochemistry, chemistry.chemical_compound, Endocrinology, Oxygen Consumption, Internal medicine, Glycogen storage disease type II, Heart rate, Genetics, medicine, Glycogen storage disease, Humans, Exercise physiology, Age of Onset, Infusions, Intravenous, Muscle, Skeletal, Molecular Biology, Exercise, Muscle Weakness, Glycogen, Chemistry, Glycogen Storage Disease Type II, Fatty Acids, Skeletal muscle, Muscle weakness, Calorimetry, Indirect, alpha-Glucosidases, medicine.disease, medicine.anatomical_structure, Glucose, Case-Control Studies, Isotope Labeling, Female, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddba42ce8d7318b31c7145150f0a1f56Test
https://pubmed.ncbi.nlm.nih.gov/22981821Test

المؤلفون: Patrick Vermersch, Brian Fowler, S. Delalande, Tanya Stojkovic, Arnaud Lacour, Olivier Outteryck, Jérôme De Seze

المصدر: Neurology. 78:P01.124-P01.124

مصطلحات موضوعية: Cerebral atrophy, medicine.medical_specialty, Hyperhomocysteinemia, Homocysteine, business.industry, Methylmalonic acid, Homocystinuria, medicine.disease, Gastroenterology, Cobalamin, Metabolism disorder, Leukoencephalopathy, chemistry.chemical_compound, chemistry, Internal medicine, medicine, Neurology (clinical), business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::66c9a382fea27ca3cbd4f29886230374Test
https://doi.org/10.1212/wnl.78.1_meetingabstracts.p01.124Test