المؤلفون: Huasheng Huang, Hong Chen, Liming Cao

المصدر: BMC Neurology, Vol 21, Iss 1, Pp 1-6 (2021)
BMC Neurology

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Heterozygote, Ataxia, Magnetic Resonance Spectroscopy, Mutation, Missense, Pyramidal Tracts, Corpus callosum, Colony-stimulating factor 1 receptor, lcsh:RC346-429, 030218 nuclear medicine & medical imaging, Corpus Callosum, White matter, Leukoencephalopathy, 03 medical and health sciences, 0302 clinical medicine, Magnetic resonance imaging, Leukoencephalopathies, Case report, Medicine, Humans, Cognitive decline, lcsh:Neurology. Diseases of the nervous system, medicine.diagnostic_test, business.industry, Progressive leukoencephalopathy, Parkinsonism, Siblings, Brain, General Medicine, medicine.disease, White Matter, medicine.anatomical_structure, Receptors, Granulocyte-Macrophage Colony-Stimulating Factor, Mutation, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf570972fa4f6ff706c6da6ef98da7caTest
https://doaj.org/article/cd730216f2f941ed9eac93fd7b10b1efTest

المؤلفون: Osamu Onodera, Toshitaka Kawarai, Toshiki Mizuno, Kunihiro Yoshida, Shu-ichi Ikeda, Masatoyo Nishizawa, Takuya Konno, Zbigniew K. Wszolek, Hiroaki Nozaki, Mari Tada, Takeshi Ikeuchi

المصدر: European Journal of Neurology

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, Pyramidal Tracts, Penetrance, Corpus callosum, medicine.disease_cause, Corpus Callosum, Leukoencephalopathy, 0302 clinical medicine, Leukoencephalopathies, adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia, Age of Onset, Aged, 80 and over, Mutation, Sex Characteristics, Movement Disorders, pigmented orthochromatic leukodystrophy, Middle Aged, Magnetic Resonance Imaging, White Matter, hereditary diffuse leukoencephalopathy with spheroids, 3. Good health, medicine.anatomical_structure, Neurology, Receptors, Granulocyte-Macrophage Colony-Stimulating Factor, Female, Original Article, Neuroglia, Adult, medicine.medical_specialty, Heterozygote, leukoencephalopathy, Adolescent, Colony stimulating factor 1 receptor, White matter, 03 medical and health sciences, Young Adult, medicine, Humans, Aged, adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, Pyramidal tracts, business.industry, Original Articles, medicine.disease, Axons, 030104 developmental biology, Hereditary diffuse leukoencephalopathy with spheroids, Neurology (clinical), business, 030217 neurology & neurosurgery, colony stimulating factor 1 receptor

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f132a68ca674f0c1f200583a890a4249Test
http://repo.lib.tokushima-u.ac.jp/115100Test

المؤلفون: Mélanie Pagès, David T.W. Jones, Pascale Varlet, Carole Colin, Romain Appay, Dominique Figarella-Branger

المساهمون: Institut de neurophysiopathologie (INP), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'Anatomie Pathologique-Neuropathologique [AP-HM Hôpital La Timone], Hôpital de la Timone [CHU - APHM] (TIMONE)

المصدر: Acta Neuropathologica Communications
Acta Neuropathologica Communications, BioMed Central part of Springer Science, 2020, 8 (1), pp.95. ⟨10.1186/s40478-020-00978-7⟩
Acta Neuropathologica Communications, 2020, 8 (1), pp.95. ⟨10.1186/s40478-020-00978-7⟩
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-7 (2020)

مصطلحات موضوعية: Proto-Oncogene Proteins B-raf, Adult, medicine.medical_specialty, Pathology, Neurology, Class I Phosphatidylinositol 3-Kinases, [SDV]Life Sciences [q-bio], Oligodendroglioma, Misnomer, Case Report, DLGNT, Supratentorial, lcsh:RC346-429, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, BRAFV600E mutation, 0302 clinical medicine, Glioneuronal tumor, Meningeal Neoplasms, medicine, 1p Deletion, Humans, lcsh:Neurology. Diseases of the nervous system, 030304 developmental biology, DNA-methylation profiling, 0303 health sciences, Brain Neoplasms, business.industry, Intraspinal Tumor, PIK3CA E545A, 3. Good health, BRAF V600E, Chromosomes, Human, Pair 1, Mutation, Female, Neurology (clinical), Chromosome Deletion, Who classification, business, Chromosomes, Human, Pair 19, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec201c6129c8f9d228f6f5e436919d16Test
https://doi.org/10.1186/s40478-020-00978-7Test

المؤلفون: Yu Yang, Zhengqi Lu, Ai-Ming Wu, Jianfang Li, Xueqiang Hu, Yaqing Shu, Wei Qiu, Ling Long, Jian Bao, Siyuan Liao, Jiezheng Yang

المصدر: BMC Neurology

مصطلحات موضوعية: Adult, 0301 basic medicine, medicine.medical_specialty, Pathology, Neurology, Clinical Neurology, Receptor, Macrophage Colony-Stimulating Factor, Case Report, Degeneration (medical), Colony-stimulating factor 1 receptor, Leukoencephalopathy, Colony stimulating factor 1 receptor, 03 medical and health sciences, 0302 clinical medicine, Leukoencephalopathies, Peripapillary retinal nerve fiber layer, Hereditary diffuse leukoencephalopathy with axonal spheroids, medicine, Humans, Axonal spheroids, Cerebral white matter, business.industry, Optic Nerve, General Medicine, medicine.disease, Magnetic Resonance Imaging, White Matter, 030104 developmental biology, Diffuse leukoencephalopathy, Mutation, Optic nerve, Female, Neurology (clinical), Atrophy, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20faf9b2316def6bec20bf4778b21bb0Test
https://doi.org/10.1186/s12883-016-0694-0Test

المؤلفون: Keiko Taguchi, Ryuta Saito, Teiji Tominaga, Masayuki Kanamori, Masayuki Yamamoto, Hiroshi Kitamura, Toshihiro Kumabe, Ichiyo Shibahara, Hiroyoshi Suzuki, Tatsuhiro Shibata, Hozumi Motohashi, Shohei Murakami, Mina Dodo, Yukihiko Sonoda, Yoji Yamashita, Tsuyoshi Higa, Mika Watanabe

المصدر: Neuro-Oncology. 17:555-565

مصطلحات موضوعية: Adult, Male, Cancer Research, Pathology, medicine.medical_specialty, IDH1, Adolescent, NF-E2-Related Factor 2, Gene Expression, Biology, Young Adult, Radioresistance, Glioma, medicine, Humans, Child, Aged, Aged, 80 and over, Kelch-Like ECH-Associated Protein 1, Brain Neoplasms, GCLM, Intracellular Signaling Peptides and Proteins, RNA-Binding Proteins, Middle Aged, respiratory system, Prognosis, medicine.disease, KEAP1, Phenotype, Isocitrate Dehydrogenase, GCLC, Isocitrate dehydrogenase, Oncology, Basic and Translational Investigations, Mutation, Cancer research, Female, Neurology (clinical), Glioblastoma, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29f3ba29e61ee16b88b27eaa4f34b663Test
https://doi.org/10.1093/neuonc/nou282Test

المؤلفون: Yasar Karatas, Bahadır Feyzioğlu, Fatih Keskin, Hasan Esen, Erdal Kalkan, Sıddıka Fındık, Bülent Kaya, Fatih Erdi

المصدر: Turkish neurosurgery. 28(1)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, IDH1, Proliferative index, 03 medical and health sciences, Thioredoxins, Thioredoxin Reductase 1, medicine, Biomarkers, Tumor, Humans, Aged, business.industry, Brain Neoplasms, Middle Aged, Isocitrate Dehydrogenase, Reverse transcription polymerase chain reaction, Repressor Proteins, 030104 developmental biology, Isocitrate dehydrogenase, Ki-67 Antigen, Apoptosis, Mutation, Disease Progression, Immunohistochemistry, Surgery, Female, Neurology (clinical), Thioredoxin, business, Glioblastoma

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fccce5244c0444226a6f7991be2cd655Test
https://pubmed.ncbi.nlm.nih.gov/28345125Test

المؤلفون: German Reyes-Botero, Caroline Dehais, Ahmed Idbaih, Nadine Martin-Duverneuil, Marion Lahutte, Catherine Carpentier, Eric Letouzé, Olivier Chinot, Hugues Loiseau, Jerome Honnorat, Carole Ramirez, Elisabeth Moyal, Dominique Figarella-Branger, François Ducray, Christine Desenclos, Henri Sevestre, Philippe Menei, Sophie Michalak, Edmond Al Nader, Joel Godard, Gabriel Viennet, Antoine Carpentier, Sandrine Eimer, Phong Dam-Hieu, Isabelle Quintin-Roué, Jean-Sebastien Guillamo, Emmanuelle Lechapt-Zalcman, Jean-Louis Kemeny, Pierre Verrelle, Thierry Faillot, Claude Gaultier, Marie Christine Tortel, Christo Christov, Caroline Le Guerinel, Marie-Hélène Aubriot-Lorton, Francois Ghiringhelli, François Berger, Catherine Lacroix, Fabrice Parker, François Dubois, Claude-Alain Maurage, Edouard-Marcel Gueye, Francois Labrousse, Anne Jouvet, Luc Bauchet, Valérie Rigau, Patrick Beauchesne, Jean-Michel Vignaud, Mario Campone, Delphine Loussouarn, Denys Fontaine, Fanny Vandenbos, Chantal Campello, Pascal Roger, Melanie Fesneau, Anne Heitzmann, Jean-Yves Delattre, Selma Elouadhani, Karima Mokhtari, Marc Polivka, Damien Ricard, Pierre-Marie Levillain, Michel Wager, Philippe Colin, Marie-Danièle Diebold, Dan Chiforeanu, Elodie Vauleon, Olivier Langlois, Annie Laquerriere, Marie Janette Motsuo Fotso, Michel Peoc'h, Marie Andraud, Servane Mouton, Marie-Pierre Chenard, Georges Noel, Nicolas Desse, Raoulin Soulard, Alexandra Amiel-Benouaich, Emmanuelle Uro-Coste, Frederic Dhermain

المصدر: Neuro-Oncology. 16:662-670

مصطلحات موضوعية: Adult, Male, Cancer Research, Pathology, medicine.medical_specialty, Oligodendroglioma, Gene Expression, Biology, Polymorphism, Single Nucleotide, Genomic Instability, Young Adult, Gene expression, medicine, Humans, Oligodendroglial Tumor, Aged, Neovascularization, Pathologic, medicine.diagnostic_test, Brain Neoplasms, Magnetic resonance imaging, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Isocitrate Dehydrogenase, Gene expression profiling, Isocitrate dehydrogenase, Oncology, Frontal lobe, Chromosomes, Human, Pair 1, Basic and Translational Investigations, Mutation, Female, Neurology (clinical), Chromosome Deletion, Chromosomes, Human, Pair 9, Chromosomes, Human, Pair 19, SNP array

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::defe96486668f249d9fb406ee9a42b55Test
https://doi.org/10.1093/neuonc/not235Test

المؤلفون: Christian R. Andres, Frédéric Bilan, Béatrice Parfait, Agathe Paubel, Patrick Vourc'h, Alain Kitzis, Patrick François, Cécilia Rousselot, Ilyess Zemmoura, Joëlle Cohen, Fabrice Parker

المصدر: Neuro-Oncology. 16:250-255

مصطلحات موضوعية: Adult, Male, Ependymoma, Cancer Research, Pathology, medicine.medical_specialty, Protein Conformation, Spinal Cord Neoplasm, Biology, Frameshift mutation, Loss of heterozygosity, NF2 Gene Mutation, Germline mutation, medicine, Humans, Spinal Cord Neoplasms, Neurofibromatosis, Genes, Dominant, Neurofibromin 2, Exons, medicine.disease, Magnetic Resonance Imaging, Neurofibromin 1, Pedigree, Oncology, Mutation, Basic and Translational Investigations, biology.protein, Female, Neurology (clinical), Chromosome Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::901f0902aa772e2244df089c30edd197Test
https://doi.org/10.1093/neuonc/not165Test

المؤلفون: Haihui Jiang, Song Lin, Zhiming Zhou, Wenqing Jia, Xiangli Cui, Xiaohui Ren, Junmei Wang

المصدر: Neuro-Oncology. 15:775-782

مصطلحات موضوعية: Adult, Male, Oncology, Cancer Research, medicine.medical_specialty, Pathology, IDH1, Adolescent, Oligodendroglioma, 1p/19q Codeletion, Astrocytoma, Biology, Young Adult, Glioma, Internal medicine, medicine, Humans, Anaplastic Oligoastrocytoma, Survival rate, In Situ Hybridization, Fluorescence, Aged, Brain Neoplasms, Middle Aged, Prognosis, medicine.disease, Combined Modality Therapy, Isocitrate Dehydrogenase, Survival Rate, Chromosomes, Human, Pair 1, Mutation, Female, Neurology (clinical), Chromosome Deletion, Neoplasm Grading, Neoplasm Recurrence, Local, Chromosomes, Human, Pair 19, Follow-Up Studies, Anaplastic astrocytoma

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cad3618deee40b3cfa499aba16d48daTest
https://doi.org/10.1093/neuonc/not027Test

المؤلفون: Constanze Gallenmüller, Mona Mustafa, Rebecca Schüle, Tobias B. Haack, Martin Schulze, Daniela Di Bella, Michel Koenig, Thomas Klopstock, Marc Sturm, Michael A. Gonzalez, Elisa Sarto, Dagmar Timmann, Stefania Magri, Alexandra Durr, Matthis Synofzik, Peter Bauer, Ludger Schöls, Martial Mallaret, Christine Tranchant, Stephan Züchner, Mathieu Anheim, Katrien Smets, Tine Deconinck, Wahiba Hamza, Lorenzo Nanetti, Franco Taroni, Peter De Jonghe, Claudia Stendel, Caterina Mariotti, Jonathan Baets

المساهمون: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Strasbourg, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), 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), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg (UNISTRA), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2016, 139 (5), pp.1378-1393. ⟨10.1093/brain/aww079⟩
Brain 139(5), 1378-1393 (2016). doi:10.1093/brain/aww079
Brain-A Journal of Neurology, Oxford University Press (OUP), 2016, 139 (5), pp.1378-1393. ⟨10.1093/brain/aww079⟩
Brain 139, 1378-1393 (2016)
Brain

مصطلحات موضوعية: 0301 basic medicine, Male, Cerebellum, Pathology, Medizin, diagnostic imaging [Cerebellar Ataxia], Disease, medicine.disease_cause, 0302 clinical medicine, physiopathology [Heredodegenerative Disorders, Nervous System], diagnosis [Heredodegenerative Disorders, Nervous System], genetics, SYNE1 protein, human, genetics [Nerve Tissue Proteins], Mutation, medicine.diagnostic_test, genetics [Cerebellar Ataxia], Muscles, Brain, High-Throughput Nucleotide Sequencing, Nuclear Proteins, genetics [Nuclear Proteins], Middle Aged, Nesprin 1, Phenotype, Magnetic Resonance Imaging, 3. Good health, diagnosis [Cerebellar Ataxia], medicine.anatomical_structure, motor neuron disease, Heredodegenerative Disorders, Nervous System, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], medicine.symptom, physiopathology [Cerebellar Ataxia], metabolism [Nuclear Proteins], Adult, medicine.medical_specialty, Ataxia, genetics [Heredodegenerative Disorders, Nervous System], Cerebellar Ataxia, Hereditary spastic paraplegia, Mutation, Missense, Genes, Recessive, Neuroimaging, Nerve Tissue Proteins, metabolism [Muscles], physiology [Evoked Potentials, Motor], 03 medical and health sciences, Young Adult, medicine, Humans, ddc:610, hereditary spastic paraplegia, Letters to the Editor, diagnostic imaging [Heredodegenerative Disorders, Nervous System], Aged, Muscle biopsy, metabolism [Nerve Tissue Proteins], Cerebellar ataxia, business.industry, ataxia, Genetics, Hereditary Spastic Paraplegia, Motor Neuron Disease, medicine.disease, Evoked Potentials, Motor, Cytoskeletal Proteins, 030104 developmental biology, metabolism [Brain], Positron-Emission Tomography, Human medicine, Neurology (clinical), business, 030217 neurology & neurosurgery, [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___::dd01ed14b728cef943e57533c6fe04faTest
https://hal.science/hal-01871789Test