المؤلفون: Patrick Aubourg, Jean-Marie Cuisset, Philippe Latour, Kouider Beladgham, Jimmy Perrot, Lucie Guyant-Marechal, Bruno Francou, Laurent Kremer, Naziha Baaloul, Alain Verloes, Andoni Echaniz-Laguna

المصدر: neurogenetics. 21:29-37

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Weakness, Pes cavus, Adolescent, Encephalopathy, Consanguinity, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Genetics, medicine, Humans, Child, Genetics (clinical), Retrospective Studies, Giant axonal neuropathy, business.industry, Gigaxonin, Brain, medicine.disease, Cytoskeletal Proteins, 030104 developmental biology, medicine.anatomical_structure, Giant Axonal Neuropathy, Child, Preschool, Peripheral nervous system, Mutation, Female, medicine.symptom, business, Polyneuropathy, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf73fbd55646164395f49a904066a0d8Test
https://doi.org/10.1007/s10048-019-00596-zTest

المؤلفون: Menelaos, Pipis, Andrea, Cortese, James M, Polke, Roy, Poh, Jana, Vandrovcova, Matilde, Laura, Mariola, Skorupinska, Arnaud, Jacquier, Raul, Juntas-Morales, Philippe, Latour, Philippe, Petiot, Guilhem, Sole, Yves, Fromes, Sachit, Shah, Julian, Blake, Byung-Ok, Choi, Ki Wha, Chung, Tanya, Stojkovic, Alexander M, Rossor, Mary M, Reilly

المصدر: Journal of neurology, neurosurgery, and psychiatry. 93(1)

مصطلحات موضوعية: Adult, Male, Neurons, Heterozygote, Genotype, Intermediate Filaments, Exons, Middle Aged, Magnetic Resonance Imaging, Pedigree, Young Adult, Phenotype, Sural Nerve, Charcot-Marie-Tooth Disease, Neurofilament Proteins, Mutation, Humans, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::b6314bf96300301ac4d50a4c6aece36aTest
https://pubmed.ncbi.nlm.nih.gov/34518332Test

المؤلفون: Valérie Castellani, Edwige Belotti, Alexander J. Abrams, Laurent Schaeffer, Claude Alain Maurage, Tanya Stojkovic, Arnaud Jacquier, Philippe Latour, Guilhem Solé, Cécile Delorme, Marianne Giroux, Odile Dubourg, Adriana P. Rebelo, Stephan Züchner, Raoul Juntas-Morales

المصدر: Acta Neuropathologica Communications, Vol 5, Iss 1, Pp 1-15 (2017)
Acta Neuropathologica Communications

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Mutant, Apoptosis, Caspase 3, Chick Embryo, Biology, medicine.disease_cause, Protein Aggregation, Pathological, lcsh:RC346-429, Pathology and Forensic Medicine, Mice, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Neurofilament Proteins, Cell Line, Tumor, medicine, Animals, Humans, Family, Amyotrophic lateral sclerosis, Gene, lcsh:Neurology. Diseases of the nervous system, Aged, Neurons, Genetics, Mutation, Research, Translation (biology), Middle Aged, Spinal cord, medicine.disease, 3. Good health, Cell biology, 030104 developmental biology, medicine.anatomical_structure, Aggresome, Spinal Cord, Female, Neurology (clinical), 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::506d8757f7a752494ad9a2686584abb9Test
http://link.springer.com/article/10.1186/s40478-017-0457-1Test

المؤلفون: Dominique Bonneau, Mariame Selma Kane, Pascal Reynier, Julien Cassereau, Philippe Codron, Philippe Latour, Andoni Echaniz-Laguna, Arnaud Chevrollier, Christophe Verny, Guy Lenaers, Vincent Procaccio

المساهمون: Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: J Peripher Nerv Syst
J Peripher Nerv Syst, 2016, 21 (4), pp.365-369. ⟨10.1111/jns.12192⟩

مصطلحات موضوعية: Adult, 0301 basic medicine, Cells, Neural Conduction, MFN2, GTPase, Biology, Mitochondrial Dynamics, Asymptomatic, DNA sequencing, Imaging, GTP Phosphohydrolases, Mitochondrial Proteins, 03 medical and health sciences, Mitofusin-2, 0302 clinical medicine, Charcot-Marie-Tooth Disease, fibroblasts, medicine, Humans, Nonparametric, Gene, Genetics, Cultured, General Neuroscience, Statistics, Heterozygote advantage, 030104 developmental biology, mitochondrial fusion, Mutation, Three-Dimensional, Female, Neurology (clinical), medicine.symptom, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0c836f20bb79c17c8909efbf65ff81dTest
https://doi.org/10.1111/jns.12192Test

المؤلفون: Nathalie Bonello-Palot, Chiara Pisciotta, Mario Sabatelli, Rita Horvath, Stefano C. Previtali, Alessandro Geroldi, Esra Battaloglu, Julian Blake, André Mégarbané, Raquel Guimarães-Costa, Matilde Laura, Alberto A. Zambon, Angelo Schenone, Lucio Santoro, Sabrina Sacconi, Philippe Latour, Yesim Parman, Michael E. Shy, Chiara Gemelli, Irene Tramacere, Sarah Leonard-Louis, Mounia Bellatache, Nicolas Lévy, Steven S. Scherer, Byung Ok Choi, Aldo Quattrone, S. Attarian, Tatsufumi Murakami, Lois Dankwa, Paola Valentino, David N. Herrmann, Marco Luigetti, Mary M. Reilly, Stefania Magri, Fiore Manganelli, Davide Pareyson, Meriem Tazir, Chelsea Bacon, Guilhem Solé, Alessandra Bolino, Tanya Stojkovic, Giulia Ricci

المساهمون: Pareyson, D., Stojkovic, T., Reilly, M. M., Leonard-Louis, S., Laura, M., Blake, J., Parman, Y., Battaloglu, E., Tazir, M., Bellatache, M., Bonello-Palot, N., Levy, N., Sacconi, S., Guimaraes-Costa, R., Attarian, S., Latour, P., Sole, G., Megarbane, A., Horvath, R., Ricci, G., Choi, B. -O., Schenone, A., Gemelli, C., Geroldi, A., Sabatelli, M., Luigetti, M., Santoro, L., Manganelli, F., Quattrone, A., Valentino, P., Murakami, T., Scherer, S. S., Dankwa, L., Shy, M. E., Bacon, C. J., Herrmann, D. N., Zambon, A., Tramacere, I., Pisciotta, C., Magri, S., Previtali, S. C., Bolino, A., CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université (SU), Service de Neurologie, CHU Mustapha, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Nice, Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Filière Neuromusculaire (FILNEMUS), Centre de Biologie et Pathologie Est (CBPE), Hospices Civils de Lyon (HCL)-Centre National de Référence des Légionelles, Centre de référence des maladies rares neuromusculaires Aquitaine-Grand Sud Ouest, CHU Bordeaux [Bordeaux], Unité de génétique médicale, Université Saint-Joseph de Beyrouth (USJ)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Jérôme Lejeune, CHU Trousseau [APHP], University of Pisa - Università di Pisa, Department of Neuroscience, Ophtalmology and Genetics, Genova, Università cattolica del Sacro Cuore [Roma] (Unicatt), Department of Neuroscience, Catholic University, Roma, University of Naples Federico II, Institute of Bioimaging and Molecular Physiology [Germaneto], National Research Council [Italy] (CNR), Istituto di Ricerche Farmacologiche 'Mario Negri', 20156 Milan, Human Inherited Neuropathies Unit, San Raffaele Scientific Institute-INSPE-Institute for Experimental Neurology, Dulbecco Telethon Institute, San Raffaele Scientific Institute, Bonello-Palot, Nathalie [0000-0002-8657-1271], Previtali, Stefano C [0000-0003-2546-4357], Bolino, Alessandra [0000-0002-8980-4878], Apollo - University of Cambridge Repository, Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Nice Sophia Antipolis (1965 - 2019) (UNS), Università cattolica del Sacro Cuore = Catholic University of the Sacred Heart [Roma] (Unicatt), University of Naples Federico II = Università degli studi di Napoli Federico II

المصدر: Annals of Neurology
Annals of Neurology, 2019, 86 (1), pp.55-67. ⟨10.1002/ana.25500⟩
Ann Neurol

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Cord, Adolescent, Myotubularin, Glaucoma, Disease, Article, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Internal medicine, medicine, Humans, Young adult, Child, Loss function, Retrospective Studies, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, hereditary neuropathies, Retrospective cohort study, Middle Aged, Protein Tyrosine Phosphatases, Non-Receptor, medicine.disease, Phenotype, 3. Good health, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Neurology, Child, Preschool, Mutation, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; application/octet-stream; image/jpeg

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::336a02204041cbb41783b5eb0bfbc465Test
http://hdl.handle.net/11588/756025Test

المؤلفون: Hélène Beauvais-Dzugan, Franck Sturtz, Anne-Sophie Lia, Justine Lerat, Philippe Latour, Caroline Espil, Corinne Magdelaine, Paco Derouault, Karima Ghorab

المساهمون: Maintenance Myélinique et Neuropathies Périphériques (MMNP), Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Service d'Oto-rhino-laryngologie (ORL) et chirurgie cervico-faciale [CHU Limoges], CHU Limoges, Service de Biochimie et Génétique Moléculaire [CHU Limoges], Service de Pédiatrie, Bordeaux (Pellegrin-Enfants), Service de Neurologie [CHU Limoges], Service de Neurologie [Lyon], CHU Lyon

المصدر: Journal of the Peripheral Nervous System
Journal of the Peripheral Nervous System, Wiley-Blackwell, 2018, 24 (1), pp.139-144. ⟨10.1111/jns.12310⟩

مصطلحات موضوعية: Charcot-Marie-Tooth, Neurofilament, Hearing Loss, Sensorineural, Neurofilament light, [SDV]Life Sciences [q-bio], Biology, Deafness, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Neurofilament Proteins, medicine, Humans, Intermediate filament, Aged, Genetics, General Neuroscience, High-Throughput Nucleotide Sequencing, medicine.disease, Neuropathy, NEFL, Review Literature as Topic, Peripheral neuropathy, Radial growth, 030220 oncology & carcinogenesis, Female, Sensorineural hearing loss, Neurology (clinical), Motor neuropathy, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e588b50d172dcb5ec7a3f273ffa63f8Test
https://hal.archives-ouvertes.fr/hal-03271683Test

المؤلفون: Foudil Lamari, Bénédicte Héron, Caroline Tilikete, Elsa Kaphan, Marie T. Vanier, Chloé Laurencin, Philippe Latour, Ana Lucia Hütter-Moncada, Bertrand Audoin, Emmanuel Roze, Cyril Goizet, Yann Nadjar, Thierry Dubard De Gaillarbois, Christine Tranchant, Mathieu Anheim, Adrian Degardin, Vincent Deramecourt, Pascal Cintas, Lionel Martzolff, Xavier Ayrignac

المساهمون: CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Department of Pediatrics, Helios Clinic Sangerhausen, Sangerhausen, Neurologic/Cardiologic Diseases Unit, Lyon East Biochemistry/Molecular Biology Department, CBPE,Hospices Civils de Lyon, Lyon, Department of Neurology, Montpellier CHU, Gui De Chauliac Hospital, Montpellier, Clinical Neurosciences, Timone CHU, Marseille Hospital, Marseille, Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institute of Genetics and Molecular and Cellular Biology (IGBMC), INSERM-U964, Strasbourg University, Illkirch, Strasbourg Federation of Translational Medicine (FMTS), Strasbourg University, Strasbourg, Service Médecine physique et de réadaptation [CHU Toulouse], Pôle Neurosciences [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle Santé publique et médecine publique [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Department of Neurology and Movement Disorders, Roger Salengro Hospital, Lille, Centre de Référence Neurogénétique, Service de Génétique, Hôpital Pellegrin, University Hospital of Bordeaux, Laboratoire MRGM, INSERM U1211, University of Bordeaux, Bordeaux, Department of Neurology, Pierre-Wertheimer Hospital, Civilian Hospices of Lyon, Lyon, Department of Internal Medicine, Hôpital Emile Muller, Mulhouse and South Alsace Regional Hospital Group, Mulhouse, Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL), Integrative Multisensory Perception, Action and Cognition (IMPACT), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Department of Neurology, Hautepierre Hospital, Strasbourg, AP-HM, CHU Timone, Pole de Neurosciences Cliniques, Department of Neurology, Marseille, France., Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Centre d'Exploration Métabolique par Résonance Magnétique [Hôpital de la Timone - APHM] (CEMEREM), Hôpital de la Timone [CHU - APHM] (TIMONE)-Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Lille Neurosciences & Cognition - U 1172 (LilNCog), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), St André Clinic, Reims, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), GRC Neurométabolisme, Sorbonne Université (SU), INSERM U820, Lyon, Laboratoire Gillet-Mérieux, CBPE, Hospices Civils de Lyon, Lyon, Reference Centre for Lysosomal Diseases (CRML), Department of Pediatric Neurology, Paris, CHU Trousseau [APHP], Department of Neurology, Reference Center for Lysosomal Diseases (CRLM), UF Neuro-Genetics and Metabolism, Hôpital Pitié-Salpêtrière, Paris, Centre d'Exploration Métabolique par Résonance Magnétique [Hôpital de la Timone - AP-HM] (CEMEREM), RANJEVA, Jean-Philippe

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 2018, 13 (1), pp.175. ⟨10.1186/s13023-018-0913-4⟩
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-12 (2018)

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, Epidemiology, lcsh:Medicine, Disease, 0302 clinical medicine, Niemann-pick disease type C, Miglustat, Pharmacology (medical), Enzyme Inhibitors, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, Dystonia, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, medicine.diagnostic_test, Niemann-Pick Disease, Type C, General Medicine, Middle Aged, Cohort, Female, France, medicine.symptom, Safety, medicine.drug, Adult, medicine.medical_specialty, 1-Deoxynojirimycin, Adolescent, Efficacy, Physical examination, Young Adult, 03 medical and health sciences, medicine, Humans, Aged, Retrospective Studies, Niemann–Pick disease, type C, Cerebellar ataxia, business.industry, Research, lcsh:R, medicine.disease, Adult-onset, 030104 developmental biology, business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21ed8e58753cf19833ffa71c89eb78cdTest
https://amu.hal.science/hal-03541909Test

المؤلفون: Anthony, Fourier, Maité, Formaglio, Mathilde, Sauvée, Armand, Perret-Liaudet, Philippe, Latour, Muriel, Bost, Isabelle, Quadrio

المصدر: Dementia and geriatric cognitive disorders. 46(3-4)

مصطلحات موضوعية: Adult, Aged, 80 and over, Male, DNA Repeat Expansion, C9orf72 Protein, Frontotemporal Dementia, Humans, Female, France, Middle Aged, Correlation of Data, Aged

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::27b8e4e8958aa0631e24f48eb1dd73baTest
https://pubmed.ncbi.nlm.nih.gov/30261505Test

المؤلفون: Jimmy Perrot, Tanya Stojkovic, Guenaelle Piguet-Lacroix, Marion Masingue, Robert-Yves Carlier, Philippe Latour

المصدر: Neurogenetics. 19(2)

مصطلحات موضوعية: 0301 basic medicine, Adult, Genes, Recessive, Nerve Tissue Proteins, Biology, 03 medical and health sciences, Cellular and Molecular Neuroscience, Consanguinity, Young Adult, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Exome Sequencing, Genetics, Coding region, Humans, Gene, Genetics (clinical), Exome sequencing, Genetic heterogeneity, Siblings, Alternative splicing, Homozygote, Intron, Disease gene identification, Stop codon, Pedigree, 030104 developmental biology, Codon, Nonsense, Female, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5084be1a87b6133ef0b040d4c8fae405Test
https://pubmed.ncbi.nlm.nih.gov/29396836Test

المؤلفون: Magali Pettazzoni, Alain Fouilhoux, Philippe Latour, Séverine Ruet, Christine Vianey-Saban, Roseline Froissart, David Cheillan, Thierry Levade, Cécile Pagan, Nathalie Guffon, Marie T. Vanier, Monique Piraud, Dominique P. Germain

المساهمون: Centre de Biologie et Pathologie Est (CBPE), Hospices Civils de Lyon (HCL)-Centre National de Référence des Légionelles, Laboratoire de Biologie Tissulaire et d'ingénierie Thérapeutique UMR 5305 (LBTI), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Métabolomique et maladies métaboliques, Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), Fondation Mérieux, Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologies appliquées (END-ICAP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherches en Cancérologie de Toulouse (CRCT), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), 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), Centre National de la Recherche Scientifique (CNRS)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL)

المصدر: PLoS ONE
PLoS ONE, Public Library of Science, 2017, 12 (7), ⟨10.1371/journal.pone.0181700⟩
PLoS ONE, Vol 12, Iss 7, p e0181700 (2017)

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, Embryology, Amniotic fluid, Physiology, [SDV]Life Sciences [q-bio], lcsh:Medicine, Gangliosidosis, Biochemistry, Tandem Mass Spectrometry, Prenatal Diagnosis, Medicine and Health Sciences, lcsh:Science, Chromatography, High Pressure Liquid, ComputingMilieux_MISCELLANEOUS, Multidisciplinary, Niemann-Pick Disease, Type C, Inherited Metabolic Disorders, 3. Good health, Body Fluids, Gaucher's disease, Blood, Genetic Diseases, Female, Anatomy, Cellular Structures and Organelles, Niemann–Pick disease, Research Article, Adult, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Sensitivity and Specificity, Blood Plasma, 03 medical and health sciences, Autosomal Recessive Diseases, Diagnostic Medicine, Hydrops fetalis, Sphingolipidoses, medicine, Humans, Clinical Genetics, Sphingolipids, Fetuses, business.industry, Inborn Errors of Metabolism, lcsh:R, Infant, Newborn, nutritional and metabolic diseases, Biology and Life Sciences, Cell Biology, medicine.disease, Amniotic Fluid, Sphingolipid, Fabry disease, 030104 developmental biology, Metabolic Disorders, Fabry Disease, lcsh:Q, business, Lysosomes, Biomarkers, Gaucher's Disease, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::511ac2ca5c91f16e72442e54bb02b0a6Test
https://hal.archives-ouvertes.fr/hal-01835521Test