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1Academic Journal
المؤلفون: Martens, Ann Kristin, Erwig, Michelle, Patzig, Julia, Fledrich, Robert, Füchtbauer, Ernst Martin, Werner, Hauke B.
المصدر: Martens , A K , Erwig , M , Patzig , J , Fledrich , R , Füchtbauer , E M & Werner , H B 2023 , ' Targeted inactivation of the Septin2 and Septin9 genes in myelinating Schwann cells of mice ' , Cytoskeleton , vol. 80 , no. 7-8 , pp. 290-302 . https://doi.org/10.1002/cm.21736
مصطلحات موضوعية: Charcot–Marie–Tooth (CMT) disease, hereditary neuralgic amyotrophy (HNA), myelin outfoldings, myelin sheath, Schwann cell, Septin 2, Septin 9, tomaculae
وصف الملف: application/pdf
الاتاحة: https://pure.au.dk/portal/en/publications/00b7f53f-672a-43db-8345-a8efe5718531
https://doi.org/10.1002/cm.21736
https://pure.au.dk/ws/files/401955638/Cytoskeleton_-_2022_-_Martens_-_Targeted_inactivation_of_the_Septin2_and_Septin9_genes_in_myelinating_Schwann_cells_of_mice.pdf
http://www.scopus.com/inward/record.url?scp=85142630549&partnerID=8YFLogxK -
2Academic JournalImbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot–Marie–Tooth disease 4H
المؤلفون: El-Bazzal, Lara, Ghata, Adeline, Esteve, Clothilde, Gadacha, Jihane, Quintana, Patrice, Castro, Christel, Roeckel-Trévisiol, Nathalie, Lembo, Frédérique, Lenfant, Nicolas, Mégarbané, André, Borg, Jean-Paul, Lévy, Nicolas, Bartoli, Marc, Poitelon, Yannick, Roubertoux, Pierre L., Delague, Valérie, Bernard-Marissal, Nathalie
المساهمون: Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche en Cancérologie de Marseille (CRCM), Aix Marseille Université (AMU)-Institut Paoli-Calmettes (IPC), 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)-Centre National de la Recherche Scientifique (CNRS), Institut Paoli-Calmettes (IPC), Fédération nationale des Centres de lutte contre le Cancer (FNCLCC), Lebanese American University (LAU), Albany Medical College, This research work was supported by the French Associationagainst Myopathies (Association Française contre les Myopathies)grants: # MNH-Decrypt, # TRIM-RD and # MoTharD)
المصدر: ISSN: 0006-8950.
مصطلحات موضوعية: NRG1/ERBB2/3, niacin treatment, Charcot-Marie-Tooth, myelin outfoldings, endocytic trafficking, [SDV]Life Sciences [q-bio], [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Relation: info:eu-repo/semantics/altIdentifier/pmid/36314052; hal-03977684; https://amu.hal.science/hal-03977684; https://amu.hal.science/hal-03977684/document; https://amu.hal.science/hal-03977684/file/El-bazzal_FRABIN_2022.pdf; PUBMED: 36314052
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3Academic Journal
المؤلفون: Michelle S Erwig, Julia Patzig, Anna M Steyer, Payam Dibaj, Mareike Heilmann, Ingo Heilmann, Ramona B Jung, Kathrin Kusch, Wiebke Möbius, Olaf Jahn, Klaus-Armin Nave, Hauke B Werner
المصدر: eLife, Vol 8 (2019)
مصطلحات موضوعية: oligodendrocyte, myelin pathology, myelin outfoldings / redundant myelin, focused ion beam scanning electron microscopy (FIB-SEM), septin filament, anillin (ANLN), Medicine, Science, Biology (General), QH301-705.5
وصف الملف: electronic resource
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4Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot–Marie–Tooth disease 4H
المؤلفون: Lara, El-Bazzal, Adeline, Ghata, Clothilde, Estève, Jihane, Gadacha, Patrice, Quintana, Christel, Castro, Nathalie, Roeckel-Trévisiol, Frédérique, Lembo, Nicolas, Lenfant, André, Mégarbané, Jean-Paul, Borg, Nicolas, Lévy, Marc, Bartoli, Yannick, Poitelon, Pierre L, Roubertoux, Valérie, Delague, Nathalie, Bernard-Marissal
المساهمون: Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche en Cancérologie de Marseille (CRCM), Aix Marseille Université (AMU)-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)-Centre National de la Recherche Scientifique (CNRS), Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC), Lebanese American University (LAU), Albany Medical College, This research work was supported by the French Associationagainst Myopathies (Association Française contre les Myopathies)grants: # MNH-Decrypt, # TRIM-RD and # MoTharD)
المصدر: Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2022, ⟨10.1093/brain/awac402⟩مصطلحات موضوعية: Charcot-Marie-Tooth, [SDV.GEN]Life Sciences [q-bio]/Genetics, niacin treatment, [SDV]Life Sciences [q-bio], endocytic trafficking, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, NRG1/ERBB2/3, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, myelin outfoldings
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5
المؤلفون: Anna E. Mammel, Alec F. Condon, Katherine C. Delgado, Andrea L. Chin, Yingming Wang, Fred L. Robinson, Sue A. Aicher, Jo Q. Hill, Lev M. Fedorov
المصدر: Hum Mol Genet
مصطلحات موضوعية: Endosome, Wild type, Schwann cell, General Medicine, Myelin outfoldings, GTPase, Biology, Protein Tyrosine Phosphatases, Non-Receptor, Axons, Cell biology, Mice, medicine.anatomical_structure, Charcot-Marie-Tooth Disease, Peripheral nervous system, Peripheral Nervous System, Genetics, medicine, Animals, Rab, General Article, Schwann Cells, Axon, Molecular Biology, Genetics (clinical), Myelin Sheath
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6
المؤلفون: Gaëtan Chicanne, Francesca Bianchi, Linda Sawade, Ivan de Curtis, Ubaldo Del Carro, Yesim Parman, Marta Guerrero-Valero, Roberta Di Guardo, Davide Pareyson, Valeria Alberizzi, Bernard Payrastre, Federica Grandi, Silvia Cipriani, Angelo Schenone, Alessandra Bolino, Volker Haucke
المساهمون: Guerrero-Valero, M., Grandi, F., Cipriani, S., Alberizzi, V., Di Guardo, R., Chicanne, G., Sawade, L., Bianchi, F., Del Carro, U., De Curtis, I., Pareyson, D., Parman, Y., Schenone, A., Haucke, V., Payrastre, B., Bolino, A.
المصدر: Proc Natl Acad Sci U S A
مصطلحات موضوعية: Charcot-Marie-Tooth neuropathies, Schwann cells, myelin, myotubularin, phosphoinositides, Animals, Charcot-Marie-Tooth Disease, Mechanistic Target of Rapamycin Complex 1, Mice, Mice, Knockout, Myelin Sheath, Myosin Type II, Phosphatidylinositol Phosphates, Protein Tyrosine Phosphatases, Non-Receptor, rhoA GTP-Binding Protein, Signal Transduction, RHOA, Myotubularin, Knockout, mTORC1, Myelin, Myosin, medicine, Non-Receptor, Cytoskeleton, Multidisciplinary, biology, Chemistry, Myelin outfoldings, Biological Sciences, Cell biology, medicine.anatomical_structure, biology.protein, Signal transduction, Protein Tyrosine Phosphatases
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7
المؤلفون: Olaf Jahn, Mareike Heilmann, Anna M. Steyer, Julia Patzig, Ingo Heilmann, Michelle S Erwig, Kathrin Kusch, Ramona B. Jung, Wiebke Möbius, Payam Dibaj, Hauke B. Werner, Klaus-Armin Nave
المصدر: eLife
eLife, Vol 8 (2019)مصطلحات موضوعية: Central Nervous System, Protein Folding, Mouse, QH301-705.5, myelin outfoldings / redundant myelin, Science, Central nervous system, septin filament, Septin, General Biochemistry, Genetics and Molecular Biology, ANLN, Mice, 03 medical and health sciences, Myelin, Contractile Proteins, 0302 clinical medicine, medicine, Animals, myelin pathology, Axon, Biology (General), Cytoskeleton, Myelin Sheath, 030304 developmental biology, 0303 health sciences, General Immunology and Microbiology, Chemistry, General Neuroscience, focused ion beam scanning electron microscopy (FIB-SEM), General Medicine, Myelin outfoldings, anillin (ANLN), Oligodendrocyte, Cell biology, mouse, neuroscience, oligodendrocyte, medicine.anatomical_structure, nervous system, Medicine, Research Advance, Septins, 030217 neurology & neurosurgery, Neuroscience
وصف الملف: application/pdf
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8
المؤلفون: Andrea L. Chin, Yingming Wang, Sue A. Aicher, Fred L. Robinson, Katherine C. Delgado, Lev M. Fedorov, Anna E. Mammel, Jo Q. Hill, Alec F. Condon
مصطلحات موضوعية: Myelin, medicine.anatomical_structure, nervous system, Endosome, Peripheral nervous system, medicine, Wild type, Schwann cell, Myelin outfoldings, Rab, Axon, Biology, Cell biology
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9
المؤلفون: Roberta Noseda, Stefano C. Previtali, Chiara Brombin, Marta Pellegatta, Françoise Piguet, Valeria Alberizzi, Cristina Rivellini, Marta Guerrero-Valero, Alessandra Bolino, Carla Taveggia, Alessandro Nonis, Patrizia D'Adamo
المصدر: EMBO Molecular Medicine
مصطلحات موضوعية: 0301 basic medicine, Schwann cell, Vimentin, Charcot–Marie–Tooth neuropathies, ADAM17 Protein, Biology, Niacin, Mice, 03 medical and health sciences, Myelin, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Neuregulin 1, medicine, Animals, nicotinic acid, Protein kinase B, Research Articles, Mice, Knockout, Myelin outfoldings, animal models, Disease Models, Animal, myelin, Neuroprotective Agents, Treatment Outcome, 030104 developmental biology, medicine.anatomical_structure, Vitamin B Complex, Immunology, Cancer research, biology.protein, Molecular Medicine, Genetics, Gene Therapy & Genetic Disease, Signal transduction, Amyloid precursor protein secretase, 030217 neurology & neurosurgery, Research Article, Neuroscience
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10
المؤلفون: Dennis P. McDaniel, Christina M. Marion, Regina C. Armstrong
المصدر: Experimental neurology. 321
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Traumatic brain injury, White matter, 03 medical and health sciences, Myelin, Mice, 0302 clinical medicine, Atrophy, Developmental Neuroscience, Brain Injuries, Traumatic, medicine, Animals, Axon, Neuroinflammation, Armadillo Domain Proteins, Mice, Knockout, business.industry, Myelin outfoldings, medicine.disease, White Matter, Axons, Astrogliosis, Mice, Inbred C57BL, Cytoskeletal Proteins, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, nervous system, Neurology, business, 030217 neurology & neurosurgery, Demyelinating Diseases
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11
المؤلفون: Danielle C. Robinson, Aubree A. Larson, Alec F. Condon, Anna E. Mammel, Anne M. Logan, Fred L. Robinson, Eric J. Schmidt
المصدر: ASN NEURO
ASN Neuro, Vol 10 (2018)مصطلحات موضوعية: 0301 basic medicine, Scaffold protein, Mutant, Mice, Phosphatidylinositol 3-Kinases, 0302 clinical medicine, Ganglia, Spinal, Nerve Growth Factor, Vacuolar protein sorting, Neurons, Kinase, General Neuroscience, myelination, Myelin outfoldings, Protein Tyrosine Phosphatases, Non-Receptor, Phenotype, Sciatic Nerve, Schwann cell, Cell biology, myotubularin, medicine.anatomical_structure, Female, Class I Phosphatidylinositol 3-Kinases, Green Fluorescent Proteins, Mice, Transgenic, Biology, lcsh:RC321-571, 03 medical and health sciences, medicine, Animals, Humans, phosphatidylinositide 3-phosphatase, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Original Paper, phosphatidylinositide 3-kinase, Myelin Basic Protein, medicine.disease, Embryo, Mammalian, Class III Phosphatidylinositol 3-Kinases, Coculture Techniques, Mice, Inbred C57BL, 030104 developmental biology, Peripheral neuropathy, Gene Expression Regulation, endosomal trafficking, Neurology (clinical), Schwann Cells, 030217 neurology & neurosurgery, Demyelinating Diseases
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12
المؤلفون: Peter Young, Ned Mantei, Ueli Suter, Klaus V. Toyka, Philipp Berger, Suzana Atanasoski, Sonja Bonneick, Matthias Boentert, Carsten Wessig
المصدر: Human Molecular Genetics, 14 (23)
Human molecular geneticsمصطلحات موضوعية: Pathology, medicine.medical_specialty, Locus (genetics), Biology, 03 medical and health sciences, Exon, Myelin, Mice, Mice, Neurologic Mutants, 0302 clinical medicine, Degenerative disease, Charcot-Marie-Tooth Disease, Genetics, medicine, Animals, Humans, Peripheral Nerves, Allele, Molecular Biology, Genetics (clinical), Alleles, Myelin Sheath, 030304 developmental biology, Sequence Deletion, 0303 health sciences, Homozygote, General Medicine, Myelin outfoldings, Anatomy, medicine.disease, Protein Tyrosine Phosphatases, Non-Receptor, Immunohistochemistry, Stop codon, Electrophysiology, Disease Models, Animal, medicine.anatomical_structure, Codon, Nonsense, Chromosomal region, Protein Tyrosine Phosphatases, 030217 neurology & neurosurgery
وصف الملف: application/application/pdf
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13
المؤلفون: Emilia Bellone, Antonia Alberti, Roberto Marotta, Valeria Prada, Giulia Ursino, Marina Grandis, Angelo Schenone, Paola Mandich, Mario Passalacqua, Ilaria Callegari, Simona Capponi
المصدر: Neuropathology. 35:254-259
مصطلحات موضوعية: Pes cavus, Mutation, Pathology, medicine.medical_specialty, medicine.diagnostic_test, Myelin protein zero, Sural nerve, General Medicine, Myelin outfoldings, Biology, medicine.disease, medicine.disease_cause, Phenotype, Pathology and Forensic Medicine, Biopsy, medicine, Neurology (clinical), Pathological
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14
المؤلفون: Mikael Simons, Dick Verkleij, Liesbeth H.P. Hekking, Nicolas Snaidero, Cliff Mathisen, Sandra Goebbels, David A. Lyons, Julia M. Edgar, Klaus-Armin Nave, Wiebke Möbius, Doron Merkler, Tim Czopka
المصدر: Cell
Cell, Vol. 156, No 1-2 (2014) pp. 277-290مصطلحات موضوعية: Central Nervous System, Central nervous system, ddc:616.07, Biology, Article, General Biochemistry, Genetics and Molecular Biology, law.invention, Mice, 03 medical and health sciences, Myelin, 0302 clinical medicine, Live cell imaging, law, medicine, Animals, Axon, Cells, Cultured, Myelin Sheath, Zebrafish, 030304 developmental biology, 0303 health sciences, Biochemistry, Genetics and Molecular Biology(all), Myelin outfoldings, Anatomy, Axons, Cell biology, Oligodendroglia, medicine.anatomical_structure, nervous system, Cytoplasm, Neuroglia, Electron microscope, 030217 neurology & neurosurgery
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15
المؤلفون: Yumiko Kutoku, Akiko Abe, Makiko Hayashi, Yoshihide Sunada, Hirotake Nishimura, Kiyoshi Hayasaka, Tatsufumi Murakami
المصدر: Journal of the Neurological Sciences. 334:176-179
مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Mild phenotype, Biology, medicine.disease_cause, Tooth disease, Sural Nerve, Charcot-Marie-Tooth Disease, medicine, Humans, Myelin Sheath, Mutation, Nerve biopsy, medicine.diagnostic_test, Myelin outfoldings, Cranial neuropathy, Protein Tyrosine Phosphatases, Non-Receptor, Phenotype, Neurology, Nerve conduction study, Sensory neuropathy, Female, Neurology (clinical), Tibial Nerve, Neuroscience
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16
المؤلفون: Daniela Salomon, Anya Vainshtein, Elena Kartvelishvily, Takashi Momoi, Helena Sabanay, Yael Eshed-Eisenbach, Katya Rechav, Galia Maik-Rachline, Neev Golan, Ivo Spiegel, Elior Peles, Shahar Frechter
المصدر: Journal of Neuroscience. 33:10950-10961
مصطلحات موضوعية: Genetically modified mouse, Mice, 129 Strain, Transgene, Immunoglobulins, Mice, Transgenic, Biology, Nerve Fibers, Myelinated, Nerve conduction velocity, Mice, Myelin, Charcot-Marie-Tooth Disease, medicine, Animals, Axon, Myelin Sheath, Mice, Knockout, Cell adhesion molecule, General Neuroscience, Articles, Myelin outfoldings, Cell biology, medicine.anatomical_structure, nervous system, Peripheral nervous system, Cell Adhesion Molecules, Neuroscience, Gene Deletion
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17
المؤلفون: Toshihiko Hanada, Stefano C. Previtali, Alessandra Biffi, Annalisa Bolis, Alessandra Bolino, Athar H. Chishti, Angela Bachi, Carla Taveggia, Ilaria Visigalli, Angelo Quattrini, Silvia Coviello
المصدر: Journal of Neuroscience. 29:8858-8870
مصطلحات موضوعية: Cells, Knockout, Animals, COS Cells, Carrier Proteins, Cell Membrane, Cells, Cultured, Chlorocebus aethiops, Coculture Techniques, Discs Large Homolog 1 Protein, Down-Regulation, Exocytosis, HeLa Cells, Homeostasis, Humans, Membrane Proteins, Mice, Mice, Knockout, Myelin Sheath, Nerve Fibers, Myelinated, Nerve Tissue Proteins, Protein Tyrosine Phosphatases, Non-Receptor, Rats, SAP90-PSD95 Associated Proteins, Schwann Cells, Schwann cell, Exocyst, Biology, Myelin, Nerve Fibers, medicine, Non-Receptor, Cultured, General Neuroscience, Articles, Myelin outfoldings, Cell biology, Vesicular transport protein, medicine.anatomical_structure, nervous system, DLG1, biology.protein, Myelinated, Kinesin, Protein Tyrosine Phosphatases
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18
المؤلفون: M. Casarotto, Sergio Ferrari, Vincent Timmerman, P. De Jonghe, Laura Bertolasi, T Deconinck, Gian Maria Fabrizi, Nicolo' Rizzuto, Tiziana Cavallaro, Federica Taioli
المصدر: Neurology
مصطلحات موضوعية: Proband, Charcot-Marie-Tooth, Pathology, medicine.medical_specialty, Molecular Sequence Data, Neural Conduction, medicine.disease_cause, FGD4 gene, Young Adult, Degenerative disease, CMT4H, neuropathy, mutation, Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth disease type 4H, Humans, Medicine, Amino Acid Sequence, Child, Mutation, Nerve biopsy, Base Sequence, medicine.diagnostic_test, Genetic heterogeneity, business.industry, Microfilament Proteins, Peroneal muscular atrophy, Myelin outfoldings, medicine.disease, Pedigree, Female, Human medicine, Neurology (clinical), business, Neuroscience
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المصدر: Proceedings of the National Academy of Sciences. 105:4916-4921
مصطلحات موضوعية: Myotubularin, Phosphatase, Biology, Nerve conduction velocity, Mice, chemistry.chemical_compound, Myelin, Nerve Fibers, Charcot-Marie-Tooth Disease, medicine, Animals, Peripheral Nerves, Phosphatidylinositol, Multidisciplinary, Node of Ranvier, Myelin outfoldings, Anatomy, Biological Sciences, Protein Tyrosine Phosphatases, Non-Receptor, medicine.disease, Cell biology, Enzyme Activation, Peripheral neuropathy, medicine.anatomical_structure, chemistry, Gene Deletion
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المؤلفون: Matthias Boentert, Peter Young, Klaus V. Toyka, Carsten Wessig, Kristian Tersar, Ueli Suter, Sonja Bonneick, Philipp Berger
المصدر: Human Molecular Genetics, 16 (24)
مصطلحات موضوعية: medicine.medical_specialty, Ratón, Biology, Nerve conduction velocity, Mice, Myelin, chemistry.chemical_compound, Charcot-Marie-Tooth Disease, Internal medicine, Genetics, medicine, Animals, Neurons, Afferent, Phosphatidylinositol, Molecular Biology, Genetics (clinical), Mice, Knockout, Motor Neurons, Behavior, Animal, General Medicine, Anatomy, Myelin outfoldings, Protein Tyrosine Phosphatases, Non-Receptor, Sciatic Nerve, Compound muscle action potential, Electrophysiology, Mice, Inbred C57BL, Disease Models, Animal, medicine.anatomical_structure, Endocrinology, chemistry, DLG1, biology.protein, Sciatic nerve
وصف الملف: application/application/pdf