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

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-12 (2018)

مصطلحات موضوعية: Niemann-pick disease type C, Adult-onset, Epidemiology, Miglustat, Efficacy, Safety, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-018-0913-4Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/78eb2cb04dab43348fe7f8edcd6dfb27Test

المؤلفون: Lionel Martzolff, Inès Harzallah, Agathe Debliquis, Jocia Fenomanana

المصدر: Annales de Biologie Clinique. 78:463-464

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Sea-Blue Histiocyte Syndrome, business.industry, Anemia, Histiocytes, Niemann-Pick Disease, Type C, General Medicine, Middle Aged, medicine.disease, medicine.anatomical_structure, Bone Marrow, Weight Loss, Humans, Medicine, 'Sea-blue' histiocytes, Cognitive Dysfunction, Female, Bone marrow, Mobility Limitation, business, Niemann–Pick disease, Niemann-pick disease type

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db3a939d1655205b7164f978a94271fbTest
https://doi.org/10.1684/abc.2020.1569Test

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: Eric Guérin, Catherine Helias, Laurent Mauvieux, Lionel Martzolff, Estelle Zink, Isabelle Radford-Weiss, Bernard Drenou, Inès Harzallah, Georges Jung, Céline Tancredi, Alice Eischen, Valérie Rimelen, Ornella Cammarata, Laurent Dano, Eric Jeandidier, Catherine Gangneux, Anne Galoisy, Bruno Lioure, Carine Gervais

المصدر: Cancer genetics. 205(7-8)

مصطلحات موضوعية: Adult, Male, Cancer Research, Myeloid, Chromosomes, Human, Pair 21, Chromosomal translocation, Biology, Translocation, Genetic, Immunophenotyping, chemistry.chemical_compound, hemic and lymphatic diseases, Genetics, medicine, Humans, Molecular Biology, In Situ Hybridization, Fluorescence, medicine.diagnostic_test, Myeloid leukemia, Middle Aged, medicine.disease, Leukemia, Leukemia, Myeloid, Acute, medicine.anatomical_structure, RUNX1, chemistry, Immunology, Cancer research, Chromosomes, Human, Pair 5, Hyperploidy, Chromosomes, Human, Pair 7, Fluorescence in situ hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1425fd9f751adc2948744a5dfd9c224Test
https://pubmed.ncbi.nlm.nih.gov/22867997Test