نتائج البحث

المساهمون: Unité de Biologie Fonctionnelle et Adaptative (BFA (UMR_8251 / U1133)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Département de neurologie [Montpellier], Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), Boston Children's Hospital, Harvard Medical School [Boston] (HMS), Institut de Myologie, Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), Biruni University, Children's University Hospital Queen Fabiola [Bruxelles, Belgium], Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA, Partenaires INRAE, 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), Centre de référence des Maladies Neuromusculaires AOC, Groupe d'imagerie neurofonctionnelle (GIN), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Children's Hospital and Harvard Medical School, Institut d'Investigació Biomèdica de Bellvitge [Barcelone] (IDIBELL), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université de Montpellier (UM), 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), Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Mühendislik ve Doğa Bilimleri Fakültesi

المصدر: Annals of Neurology
Annals of Neurology, Wiley, 2020, 87 (2), pp.217-232. ⟨10.1002/ana.25660⟩
Annals of neurology, 87 (2
Annals of Neurology, 2020, 87 (2), pp.217-232. ⟨10.1002/ana.25660⟩
Ann Neurol

مصطلحات موضوعية: Male, TRANSCRIPTION COACTIVATOR, 0301 basic medicine, Pathology, animal diseases, [SDV]Life Sciences [q-bio], Cardiomyopathy, Muscle Proteins, medicine.disease_cause, SIGNAL COINTEGRATOR 1, 0302 clinical medicine, Fibroblasts -- physiology, Amyotrophic lateral sclerosis, Child, Cells, Cultured, Mutation, ABNORMALITIES, Cell Cycle -- physiology, Cell Cycle, PROLIFERATION, hemic and immune systems, Sciences bio-médicales et agricoles, Middle Aged, MUSCLE, Pedigree, 3. Good health, Phenotype, Neurology, Child, Preschool, Female, Transcription Factors -- genetics, medicine.symptom, tissues, D3, G1 phase, Adult, endocrine system, medicine.medical_specialty, Amino Acid Transport System y+, DISORDERS, Muscle Proteins -- genetics, Muscle, Skeletal -- pathology -- physiopathology, Article, 03 medical and health sciences, Muscular Diseases, Neurologie, medicine, Humans, Amino Acid Transport System y+ -- metabolism -- physiology, Muscle, Skeletal, Cell Cycle Protein, Myopathy, business.industry, Infant, Spinal muscular atrophy, Fibroblasts, medicine.disease, GENE, Congenital myopathy, eye diseases, MUSCULAR-DYSTROPHY, ADIPOGENESIS, 030104 developmental biology, Muscular Diseases -- genetics -- physiopathology, Neurology (clinical), business, 030217 neurology & neurosurgery, Transcription Factors

وصف الملف: 1 full-text file(s): application/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::881c9cf3fea17bc40c4af016cc68a5c5Test
https://doi.org/10.1002/ana.25660Test

5

Investigating ABCD1 mutations in a Taiwanese cohort with hereditary spastic paraplegia phenotype

المؤلفون: Cheng-Tsung Hsiao, Cheng-Ta Chou, Yu-Shuen Tsai, Ying-Tsen Chou, Shao-Lun Hsu, Yi-Chu Liao, Yi-Chung Lee, Ying-Hao Chen

المصدر: Parkinsonismrelated disorders. 92

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::068a6292946b48fdc575b31b5d3e722dTest
https://pubmed.ncbi.nlm.nih.gov/34649108Test

6

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)

المؤلفون: Rhea Yy Tan, Hugh S. Markus, Kathryn Urankar, Clare Bailey, Stefan Gräf, Anna M. Drazyk, Nicola Giffin

المصدر: Practical neurology. 21(5)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2402d93002e0c5334c8c27fbef63b10cTest
https://pubmed.ncbi.nlm.nih.gov/34433685Test

7

Glioblastoma in neurofibromatosis 1 patients without IDH1, BRAF V600E, and TERT promoter mutations

المؤلفون: Mika Watanabe, Yasuhiro Suzuki, Hiroshi Uenohara, Yukihiko Sonoda, Teiji Tominaga, Masayuki Kanamori, Ryuta Saito, Shoji Mashiyama, Akifumi Mayama, Toshihiro Kumabe, Hiroyoshi Suzuki, Ichiyo Shibahara

المصدر: Brain Tumor Pathology. 35:10-18

مصطلحات موضوعية: Adult, Male, Proto-Oncogene Proteins B-raf, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, Pathology, medicine.medical_specialty, Neurofibromatosis 1, IDH1, Gene mutation, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Telomerase reverse transcriptase, Neurofibromatosis, Promoter Regions, Genetic, Telomerase, neoplasms, Retrospective Studies, Mutation, Neurofibromin 1, Brain Neoplasms, business.industry, General Medicine, Middle Aged, medicine.disease, Isocitrate Dehydrogenase, nervous system diseases, Epithelioid Glioblastoma, Isocitrate dehydrogenase, Oncology, Giant cell, 030220 oncology & carcinogenesis, Cancer research, Neurology (clinical), Glioblastoma, business, 030217 neurology & neurosurgery, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec2148ee91dde4fac407812be7f46cb6Test
https://doi.org/10.1007/s10014-017-0302-zTest

8

Reduced H3K27me3 levels in diffuse gliomas: association with 1p/19q codeletion and difference from H3K27me3 loss in malignant peripheral nerve sheath tumors

المؤلفون: Kiyotaka Nagahama, Kuniaki Saito, Nobuyoshi Sasaki, Motoo Nagane, Keiichi Kobayashi, Junji Shibahara, Shohei Iijima, Saki Shimizu, Ayumi Sumiishi, Akimasa Hayashi, Keiichiro Kitahama

المصدر: Brain tumor pathology. 38(1)

مصطلحات موضوعية: Adult, Male, Cancer Research, Pathology, medicine.medical_specialty, Jumonji Domain-Containing Histone Demethylases, macromolecular substances, 1p/19q Codeletion, Nerve Sheath Neoplasms, 03 medical and health sciences, Histone H3, Diffuse Glioma, 0302 clinical medicine, medicine, Peripheral Nerve Sheath Tumors, Humans, ATRX, Aged, business.industry, Brain Neoplasms, General Medicine, Glioma, Middle Aged, Immunohistochemistry, Isocitrate Dehydrogenase, Staining, Oncology, Chromosomes, Human, Pair 1, 030220 oncology & carcinogenesis, Mutation, Female, Neurology (clinical), Chromosome Deletion, business, Chromosomes, Human, Pair 19, 030217 neurology & neurosurgery, Immunostaining

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecd852b2ab969c8942cac9154a36b9e2Test
https://pubmed.ncbi.nlm.nih.gov/32989606Test

9

Clinical and genetic characterization of adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation

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

10

Different neuroinflammatory profile in amyotrophic lateral sclerosis and frontotemporal dementia is linked to the clinical phase

المصدر: Journal of Neurology, Neurosurgery & Psychiatry
Journal of neurology, neurosurgery, and psychiatry 90(1), 4-10 (2018). doi:10.1136/jnnp-2018-318868

مصطلحات موضوعية: blood [Frontotemporal Dementia], Male, Pathology, amyotrophic lateral sclerosis, Neurology, cerebrospinal fluid [Frontotemporal Dementia], immunology [Amyotrophic Lateral Sclerosis], frontotemporal dementia, neuroinflammation, blood [Amyotrophic Lateral Sclerosis], cerebrospinal fluid [Glial Fibrillary Acidic Protein], chitotriosidase, 0302 clinical medicine, Cerebrospinal fluid, blood [Chitinase-3-Like Protein 1], blood [Glial Fibrillary Acidic Protein], immunology [Hexosaminidases], Amyotrophic lateral sclerosis, GFAP, CHI3L1 protein, human, Middle Aged, Psychiatry and Mental health, Hexosaminidases, Frontotemporal Dementia, Mutation (genetic algorithm), CHIT1, cerebrospinal fluid [Amyotrophic Lateral Sclerosis], Female, medicine.symptom, Frontotemporal dementia, Adult, Heterozygote, medicine.medical_specialty, cerebrospinal fluid [Chitinase-3-Like Protein 1], Asymptomatic, cerebrospinal fluid, 03 medical and health sciences, Glial Fibrillary Acidic Protein, medicine, Humans, ddc:610, Chitinase-3-Like Protein 1, Neuroinflammation, Aged, blood [Hexosaminidases], immunology [Frontotemporal Dementia], GFAP protein, human, business.industry, Amyotrophic Lateral Sclerosis, cerebrospinal fluid [Hexosaminidases], medicine.disease, immunology [Glial Fibrillary Acidic Protein], Case-Control Studies, Asymptomatic Diseases, Mutation, Surgery, Neurology (clinical), business, immunology [Chitinase-3-Like Protein 1], 030217 neurology & neurosurgery

وصف الملف: Print-Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::201c39b3ad87d66ae56567d51fade169Test
https://lirias.kuleuven.be/handle/123456789/629500Test

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