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1دورية أكاديمية
المؤلفون: Schwartz, Mathias, Sternberg, Damien, Whalen, Sandra, Afenjar, Alexandra, Isapof, Arnaud, Chabrol, Brigitte, Portnoï, Marie-France, Heide, Solveig, Keren, Boris, Chantot-Bastaraud, Sandra, Siffroi, Jean-Pierre
المساهمون: CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Maladies génétiques d'expression pédiatrique (U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), 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), CHU Pitié-Salpêtrière AP-HP, Hôpital de la Timone CHU - APHM (TIMONE)
المصدر: ISSN: 1552-4825.
مصطلحات موضوعية: choline acetyl-transferase, compound heterozygoty, single nucleotide polymorphisms array, vesicular acetyl-choline transporter, MESH: Amino Acid Sequence, MESH: Choline O-Acetyltransferase, MESH: Mutation, MESH: Myasthenic Syndromes, Congenital, MESH: Oligonucleotide Array Sequence Analysis, MESH: Phenotype, MESH: Polymorphism, Single Nucleotide, MESH: Vesicular Acetylcholine Transport Proteins, MESH: Chromosome Deletion, MESH: Chromosomes, Human, Pair 10, MESH: Female, MESH: Genes, Recessive, MESH: Genetic Association Studies, MESH: Humans, MESH: In Situ Hybridization, Fluorescence, MESH: Infant, MESH: Male, [SDV]Life Sciences [q-bio], [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29130637; inserm-03851530; https://inserm.hal.science/inserm-03851530Test; https://inserm.hal.science/inserm-03851530/documentTest; https://inserm.hal.science/inserm-03851530/file/American%20J%20of%20Med%20Genetics%20Pt%20A%20-%202017%20-%20Schwartz%20-%20How%20chromosomal%20deletions%20can%20unmask%20recessive%20mutations%20Deletions%20in.pdfTest; PUBMED: 29130637; WOS: 000417872600019
الإتاحة: https://doi.org/10.1002/ajmg.a.38515Test
https://inserm.hal.science/inserm-03851530Test
https://inserm.hal.science/inserm-03851530/documentTest
https://inserm.hal.science/inserm-03851530/file/American%20J%20of%20Med%20Genetics%20Pt%20A%20-%202017%20-%20Schwartz%20-%20How%20chromosomal%20deletions%20can%20unmask%20recessive%20mutations%20Deletions%20in.pdfTest -
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المؤلفون: Jean-Pierre Siffroi, Solveig Heide, Alexandra Afenjar, Damien Sternberg, Arnaud Isapof, Mathias Schwartz, Sandra Whalen, Marie-France Portnoï, Boris Keren, Sandra Chantot-Bastaraud, Brigitte Chabrol
المساهمون: Service de génétique et embryologie médicales [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), 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), Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique [CHU Pitié Salpêtrière], 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 Neuropédiatrie [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Hôpital de la Timone [CHU - APHM] (TIMONE), Service de Génétique médicale [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Couvet, Sandrine, UF de Génétique chromosomique [CHU Trousseau], Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], UF Neurométabolique Bioclinique et Génétique [CHU Pitié-Salpêtrière]
المصدر: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, 2018, 176 (1), pp.151-155. ⟨10.1002/ajmg.a.38515⟩مصطلحات موضوعية: Male, 0301 basic medicine, choline acetyl-transferase, [SDV]Life Sciences [q-bio], Vesicular Acetylcholine Transport Proteins, MESH: Amino Acid Sequence, single nucleotide polymorphisms array, Congenital myasthenia, 0302 clinical medicine, MESH: In Situ Hybridization, Fluorescence, In Situ Hybridization, Fluorescence, Genetics (clinical), MESH: Genetic Association Studies, Oligonucleotide Array Sequence Analysis, MESH: Choline O-Acetyltransferase, Genetics, MESH: Polymorphism, Single Nucleotide, Congenital myasthenic syndrome, MESH: Infant, Choline acetyltransferase, Phenotype, [SDV] Life Sciences [q-bio], Female, Chromosome Deletion, compound heterozygoty, MESH: Myasthenic Syndromes, Congenital, vesicular acetyl-choline transporter, MESH: Mutation, MESH: Chromosome Deletion, Genes, Recessive, Locus (genetics), Single-nucleotide polymorphism, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Biology, MESH: Phenotype, Polymorphism, Single Nucleotide, DNA sequencing, Choline O-Acetyltransferase, 03 medical and health sciences, medicine, Humans, Amino Acid Sequence, Gene, MESH: Genes, Recessive, Genetic Association Studies, Myasthenic Syndromes, Congenital, MESH: Humans, MESH: Vesicular Acetylcholine Transport Proteins, Chromosomes, Human, Pair 10, Infant, medicine.disease, MESH: Male, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MESH: Chromosomes, Human, Pair 10, MESH: Oligonucleotide Array Sequence Analysis, Mutation, MESH: Female, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d3b0c2dd902139a6e400d91b29aabb5Test
https://doi.org/10.1002/ajmg.a.38515Test -
3دورية أكاديمية
المؤلفون: Henriques, Alexandre, Pitzer, Claudia, Dupuis, Luc, Schneider, Armin
المساهمون: SYGNIS Bioscience, Laboratoire de signalisation moléculaire et neurodégénerescence, Université Louis Pasteur - Strasbourg I-IFR37-Institut National de la Santé et de la Recherche Médicale (INSERM)
المصدر: ISSN: 1471-2202.
مصطلحات موضوعية: MESH: Animals, Newborn, MESH: Disease Models, Animal, MESH: Granulocyte Colony-Stimulating Factor, MESH: Lumbar Vertebrae, MESH: Mice, Transgenic, MESH: Motor Neurons, MESH: Receptors, Granulocyte Colony-Stimulating Factor, MESH: Sciatic Nerve, MESH: Spinal Cord, MESH: Apoptosis, MESH: Axons, MESH: Axotomy, MESH: Brain, MESH: Cell Count, MESH: Cell Size, MESH: Cell Survival, MESH: Choline O-Acetyltransferase, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/20178614; inserm-00663774; https://inserm.hal.science/inserm-00663774Test; https://inserm.hal.science/inserm-00663774/documentTest; https://inserm.hal.science/inserm-00663774/file/1471-2202-11-25.pdfTest; PUBMED: 20178614
الإتاحة: https://doi.org/10.1186/1471-2202-11-25Test
https://inserm.hal.science/inserm-00663774Test
https://inserm.hal.science/inserm-00663774/documentTest
https://inserm.hal.science/inserm-00663774/file/1471-2202-11-25.pdfTest -
4دورية أكاديمية
المؤلفون: Boissard, Romuald, Gervasoni, Damien, Schmidt, Markus H, Barbagli, Bruno, Fort, Patrice, Luppi, Pierre-Hervé
المساهمون: 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)
المصدر: ISSN: 0953-816X.
مصطلحات موضوعية: MESH: Animals, MESH: Bicuculline, MESH: Electromyography, MESH: Excitatory Amino Acid Agonists, MESH: Excitatory Amino Acid Antagonists, MESH: GABA Antagonists, MESH: Immunohistochemistry, MESH: Kai, MESH: Carbachol, MESH: Choline O-Acetyltransferase, MESH: Cholinergic Agonists, MESH: Efferent Pathways, MESH: Electroencephalography, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/12453060; hal-00113896; https://hal.science/hal-00113896Test; https://hal.science/hal-00113896/documentTest; https://hal.science/hal-00113896/file/Boissard12DG.pdfTest; PUBMED: 12453060
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5دورية أكاديمية
المؤلفون: Schwartz, Mathias, Sternberg, Damien, Whalen, Sandra, Afenjar, Alexandra, Isapof, Arnaud, Chabrol, Brigitte, Portnoï, Marie-France, Heide, Solveig, Keren, Boris, Chantot-Bastaraud, Sandra, Siffroi, Jean-Pierre
المساهمون: Service de génétique et embryologie médicales CHU Trousseau, CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), 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), Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique CHU Pitié Salpêtrière, 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 Neuropédiatrie CHU Trousseau, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau APHP, Hôpital de la Timone CHU - APHM (TIMONE), Service de Génétique médicale CHU Pitié-Salpêtrière, CHU Pitié-Salpêtrière AP-HP
المصدر: ISSN: 1552-4825.
مصطلحات موضوعية: choline acetyl-transferase, compound heterozygoty, single nucleotide polymorphisms array, vesicular acetyl-choline transporter, MESH: Amino Acid Sequence, MESH: Choline O-Acetyltransferase, MESH: Male, MESH: Mutation, MESH: Myasthenic Syndromes, Congenital, MESH: Oligonucleotide Array Sequence Analysis, MESH: Phenotype, MESH: Polymorphism, Single Nucleotide, MESH: Vesicular Acetylcholine Transport Proteins, MESH: Chromosome Deletion, MESH: Chromosomes, Human, Pair 10, MESH: Female, MESH: Genes, Recessive, MESH: Genetic Association Studies, MESH: Humans, MESH: In Situ Hybridization, Fluorescence, MESH: Infant, [SDV]Life Sciences [q-bio], [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29130637; inserm-03867699; https://www.hal.inserm.fr/inserm-03867699Test; PUBMED: 29130637
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6دورية أكاديمية
المؤلفون: Dauphin, François, Richard, Jean W, Seylaz, Jacques, Quirion, Rémi, Hamel, Edith
المساهمون: Montreal Neurological Institute and Hospital, McGill University = Université McGill Montréal, Canada, Douglas Hospital Research Centre, Department of Psychiatry Montréal, McGill University Health Center Montreal (MUHC)
المصدر: ISSN: 0271-678X.
مصطلحات موضوعية: Cerebrovascular innervation, Sphenopalatine ganglion, Choline acetyltransferase, Acetylcholine, Cerebral blood vessels, MESH: Acetylcholine, MESH: Animals, MESH: Pia Mater, MESH: Rats, Inbred Strains, MESH: Tissue Distribution, MESH: Brain, MESH: Cerebral Arteries, MESH: Choline O-Acetyltransferase, MESH: Choroid Plexus, MESH: Circle of Willis, MESH: Frontal Lobe, MESH: Ganglionectomy, MESH: Male, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.SP]Life Sciences [q-bio]/Pharmaceutical sciences, [SDV.BA]Life Sciences [q-bio]/Animal biology, [SDV.BC]Life Sciences [q-bio]/Cellular Biology
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/1997497; hal-02135296; https://hal-normandie-univ.archives-ouvertes.fr/hal-02135296Test; PUBMED: 1997497
الإتاحة: https://doi.org/10.1038/jcbfm.1991.57Test
https://hal-normandie-univ.archives-ouvertes.fr/hal-02135296Test -
7دورية أكاديمية
المساهمون: Univ. Bordeaux, CNRS, EPHE, INCIA, UMR 5287
المصدر: ISSN: 0270-6474.
مصطلحات موضوعية: axial, coordination, in vitro, locomotion, posture, spinal cord, MESH: Animals, Newborn, MESH: Membrane Potentials, MESH: Motor Neurons, MESH: Nerve Net, MESH: Organic Chemicals, MESH: Patch-Clamp Techniques, MESH: Periodicity, MESH: Rats, MESH: Serotonin, MESH: Spinal Cord, MESH: Synaptic Transmission, MESH: Aspartic Acid, MESH: Choline O-Acetyltransferase, MESH: Excitatory Amino Acid Agents, MESH: Female, MESH: In Vitro Techniques, MESH: Locomotion, MESH: Lumbosacral Region, MESH: Male, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25878284; hal-03136601; https://hal.archives-ouvertes.fr/hal-03136601Test; PUBMED: 25878284; PUBMEDCENTRAL: PMC6605171
الإتاحة: https://doi.org/10.1523/JNEUROSCI.4145-14.2015Test
https://hal.archives-ouvertes.fr/hal-03136601Test -
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المساهمون: Univ. Bordeaux, CNRS, EPHE, INCIA, UMR 5287
المصدر: Journal of Neuroscience
Journal of Neuroscience, Society for Neuroscience, 2015, 35 (15), pp.6117-6130. ⟨10.1523/JNEUROSCI.4145-14.2015⟩مصطلحات موضوعية: Male, Neural substrate of locomotor central pattern generators in mammals, Periodicity, Patch-Clamp Techniques, coordination, MESH: Periodicity, Synaptic Transmission, MESH: Aspartic Acid, MESH: Animals, Newborn, Membrane Potentials, MESH: Spinal Cord, MESH: Animals, Organic Chemicals, posture, Motor Neurons, MESH: Choline O-Acetyltransferase, General Neuroscience, musculoskeletal, neural, and ocular physiology, axial, in vitro, Anatomy, Articles, Motor coordination, locomotion, medicine.anatomical_structure, Excitatory postsynaptic potential, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], MESH: Motor Neurons, Serotonin, MESH: Rats, MESH: Locomotion, Neurotransmission, Biology, In Vitro Techniques, Inhibitory postsynaptic potential, MESH: Lumbosacral Region, Choline O-Acetyltransferase, Bursting, Lumbar, MESH: Patch-Clamp Techniques, medicine, MESH: Synaptic Transmission, Animals, MESH: Membrane Potentials, Excitatory Amino Acid Agents, MESH: In Vitro Techniques, Aspartic Acid, Lumbosacral Region, MESH: Organic Chemicals, spinal cord, Spinal cord, MESH: Male, Rats, Animals, Newborn, MESH: Nerve Net, MESH: Serotonin, Nerve Net, Neuroscience, MESH: Female, MESH: Excitatory Amino Acid Agents
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d57e4cc060e9b8c25f24b478f76c2efTest
https://hal.archives-ouvertes.fr/hal-03136601Test -
9
المؤلفون: Laurent Lemaire, Peter Keane, Jacqueline Fournier, Jean Vion-Dury, Sylviane Confort-Gouny, Yann Le Fur, Christian Ponthus, Patrick J. Cozzone
المساهمون: Micro et Nanomédecines Translationnelles (MINT), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Service d'Oncologie Médicale [CHRU Besançon], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Centre de résonance magnétique biologique et médicale (CRMBM), Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS)
المصدر: Investigative Radiology
Investigative Radiology, Lippincott, Williams & Wilkins, 2002, 37 (6), pp.321-327. ⟨10.1097/00004424-200206000-00003⟩
Investigative Radiology, 2002, 37 (6), pp.321-327. ⟨10.1097/00004424-200206000-00003⟩مصطلحات موضوعية: Male, Time Factors, [SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging, Pyridines, MESH: Rats, Sprague-Dawley, MESH: Magnetic Resonance Imaging, Rats, Sprague-Dawley, chemistry.chemical_compound, 0302 clinical medicine, Hippocampus (mythology), MESH: Animals, Enzyme Inhibitors, MESH: Choline O-Acetyltransferase, 0303 health sciences, medicine.diagnostic_test, Brain, MESH: Naphthalenes, MESH: Neuroprotective Agents, General Medicine, Magnetic Resonance Imaging, Vincristine Injection, Neuroprotective Agents, MESH: Enzyme Inhibitors, Vincristine, Anesthesia, medicine.drug, MESH: Rats, MESH: Vincristine, Naphthalenes, Neuroprotection, Choline O-Acetyltransferase, MESH: Brain, 03 medical and health sciences, [SDV.SP.MED]Life Sciences [q-bio]/Pharmaceutical sciences/Medication, Alzheimer Disease, medicine, Animals, Radiology, Nuclear Medicine and imaging, Xaliproden, 030304 developmental biology, business.industry, MESH: Pyridines, MESH: Time Factors, Magnetic resonance imaging, Rat brain, Mr imaging, MESH: Male, Rats, Disease Models, Animal, chemistry, MESH: Disease Models, Animal, business, MESH: Alzheimer Disease, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::579c91fe030a4a22f1d2b17f4a1d60a3Test
https://doi.org/10.1097/00004424-200206000-00003Test -
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المساهمون: Institut of Physiology, Czech Academy of Sciences [Prague] (CAS), Laboratoire de neurobiologie cellulaire et moléculaire (NBCM), Centre National de la Recherche Scientifique (CNRS), Institut de Neurobiologie Alfred Fessard (INAF)
المصدر: Brain Research Bulletin
Brain Research Bulletin, Elsevier, 2001, 54 (4), pp.363-73. ⟨10.1016/S0361-9230(00)00452-4⟩مصطلحات موضوعية: MESH: Vesicular Transport Proteins, Transcription, Genetic, Vesicular Acetylcholine Transport Proteins, Anti-Inflammatory Agents, Vesicular Transport Proteins, Retinoic acid, Dexamethasone, Choline, MESH: Membrane Transport Proteins, chemistry.chemical_compound, 0302 clinical medicine, MESH: Bucladesine, Gene expression, MESH: Nerve Tissue Proteins, MESH: Choline O-Acetyltransferase, 0303 health sciences, General Neuroscience, MESH: Choline, Choline acetyltransferase, Phenotype, MESH: Dexamethasone, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Acetylcholine, medicine.drug, MESH: Hybridomas, Nerve Tissue Proteins, Tretinoin, MESH: Carrier Proteins, Biology, MESH: Phenotype, Cell Line, Choline O-Acetyltransferase, 03 medical and health sciences, Keratolytic Agents, MESH: Keratolytic Agents, Vesicular acetylcholine transporter, medicine, RNA, Messenger, Cholinergic neuron, MESH: RNA, Messenger, 030304 developmental biology, Messenger RNA, Hybridomas, MESH: Tretinoin, MESH: Vesicular Acetylcholine Transport Proteins, MESH: Acetylcholine, MESH: Transcription, Genetic, Membrane Transport Proteins, Molecular biology, MESH: Cell Line, Bucladesine, chemistry, MESH: Anti-Inflammatory Agents, Cholinergic, Carrier Proteins, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98abdd7cc5cbc22c4e7a8f37cd8ca1e4Test
https://doi.org/10.1016/s0361-9230Test(00)00452-4