-
1
المؤلفون: Carlos A. Matos, Adriana Marcelo, Wilfred F. A. den Dunnen, Gaëtan Despres, Fatich Mechmet, Luís Pereira de Almeida, Liliana Mendonça, Nathalie Cartier, Sandra Tomé, Clévio Nóbrega, Sandro Alves, Dominique Langui, Antonin Lamaziere
المساهمون: Molecular Neuroscience and Ageing Research (MOLAR)
المصدر: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Acta Neuropathologica, 138(5), 837-858. SPRINGER
Acta Neuropathologicaمصطلحات موضوعية: 0301 basic medicine, Male, SCA patients, Purkinje cell, Gene, DOMINANT CEREBELLAR-ATAXIA, Purkinje Cells, 0302 clinical medicine, REPEAT, RAT MODEL, Mutant ataxin-3, SCA animal models, MACHADO-JOSEPH-DISEASE, ABNORMALITIES, Neurodegeneration, 24-hydroxylase, NEURODEGENERATION, Brain, Machado-Joseph Disease, Middle Aged, 3. Good health, Cell biology, CYP46A1, medicine.anatomical_structure, Cholesterol, Spinocerebellar ataxia, Rat model, Female, medicine.symptom, Abnormalities, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, Transgene, Mice, Transgenic, Nerve Tissue Proteins, Neuropathology, Biology, Repeat, Neuroprotection, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, Cyp46A1, medicine, Autophagy, Cholesterol metabolism, Animals, Humans, Spinocerebellar Ataxias, medicine.disease, Dominant cerebellar-ataxia, GENE, 24-Cholesterol hydroxylase, MUTANT ATAXIN-3, Disease Models, Animal, 030104 developmental biology, 24-HYDROXYLASE, Neurology (clinical), 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bd3fa96c9557159a2c2e2f365c4deebTest
-
2
المؤلفون: Annie Sittler, Sandro Alves, Alexis Brice, Martine Barkats, Béatrice Dufresnois, Jean-Gabriel Dornbierer, Alexandre Janer, Christelle Tesson, Darren P. Baker, Morwena Latouche, Merle Ruberg, Martina Marinello, Giovanni Stevanin, Khalid Hamid El Hachimi, Alice Chort
المصدر: Brain. 136:1732-1745
مصطلحات موضوعية: Adult, Cerebellum, Pathology, medicine.medical_specialty, Ataxin 7, Purkinje cell, Mice, Transgenic, Nerve Tissue Proteins, Motor Activity, Mice, Promyelocytic leukemia protein, Gene knockin, medicine, Animals, Humans, Spinocerebellar Ataxias, Gene Knock-In Techniques, Rats, Wistar, Child, Receptor, Cells, Cultured, Aged, Ataxin-7, biology, Interferon-beta, medicine.disease, Rats, Cell biology, Mice, Inbred C57BL, medicine.anatomical_structure, Ataxin, Mutation, Spinocerebellar ataxia, biology.protein, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b9c34d96ef6d3b3cdd44c3bb260df1dTest
https://doi.org/10.1093/brain/awt061Test -
3
المؤلفون: Martina Marinello, Giovanni Stevanin, Khalid Hamid El Hachimi, Annie Sittler, Merle Ruberg, Martine Barkats, Alexis Brice, Maria-Grazia Biferi, Sandro Alves, Thibaut Marais, Nathalie Cartier, Denis Furling
المساهمون: Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-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)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut de Myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-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)-Centre National de la Recherche Scientifique (CNRS), École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL), Service MIRCEN (MIRCEN), Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), École pratique des hautes études (EPHE), Université Paris-Saclay-Institut de Biologie François JACOB (JACOB), 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), HAL UPMC, Gestionnaire, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Pierre et Marie Curie - Paris 6 (UPMC), Institut de Biologie François JACOB (JACOB), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay
المصدر: Molecular Neurodegeneration
Molecular Neurodegeneration, 2016, 11, pp.58. ⟨10.1186/s13024-016-0123-2⟩
Molecular Neurodegeneration, BioMed Central, 2016, 11, pp.58. ⟨10.1186/s13024-016-0123-2⟩مصطلحات موضوعية: 0301 basic medicine, Cerebellum, congenital, hereditary, and neonatal diseases and abnormalities, Ataxin 7, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Mutant, Clinical Neurology, RNA-binding protein, DNA-binding protein, Viral vector, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, medicine, Animals, Humans, Spinocerebellar Ataxias, SCA7 patients, Molecular Biology, Neuroinflammation, Ataxin-7, Neurons, biology, Lentivirus, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, RNA-Binding Proteins, Molecular biology, Phenotype, DNA-Binding Proteins, Mice, Inbred C57BL, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, RNA binding-proteins, biology.protein, Female, Ataxia, Neurology (clinical), Lentiviral vector, 030217 neurology & neurosurgery, SCA7 mouse model, Research Article
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::204f837e2215530a23517f3b46759167Test
https://hal.sorbonne-universite.fr/hal-01371536Test -
4
المؤلفون: Muriel Priault, Wilfred F. A. den Dunnen, Jean-Christophe Corvol, Alexis Brice, Khalid Hamid El Hachimi, Merle Ruberg, Martine Barkats, Fanny Charbonnier-Beaupel, Annie Sittler, Marie-Paule Muriel, Thibaut Marais, Florence Cormier-Dequaire, Khadija Tahiri, Alexandra Durr, Florian Beaumatin, Danielle Seilhean, Giovanni Stevanin, Martina Marinello, Sandro Alves
المساهمون: Molecular Neuroscience and Ageing Research (MOLAR)
المصدر: Acta Neuropathologica, 128(5), 705-722. SPRINGER
مصطلحات موضوعية: Autophagosome, Male, Mice, Trinucleotide Repeats, NEURODEGENERATIVE DISEASE, GENETIC MOUSE MODELS, Cell Line, Transformed, LAMP2, MACHADO-JOSEPH-DISEASE, TOR Serine-Threonine Kinases, Microfilament Proteins, Brain, Polyglutamine tract, Lysosome, SCA7 knock-in mouse, Cell biology, ALZHEIMERS-DISEASE, medicine.anatomical_structure, HUNTINGTONS-DISEASE, Small Ubiquitin-Related Modifier Proteins, Beclin-1, Female, Signal Transduction, Programmed cell death, Patients, Mice, Transgenic, Nerve Tissue Proteins, Biology, Pathology and Forensic Medicine, ATG12, Cellular and Molecular Neuroscience, medicine, Autophagy, Animals, Humans, Spinocerebellar Ataxias, BECLIN 1, PI3K/AKT/mTOR pathway, POLYGLUTAMINE, Ataxin-7, Membrane Proteins, MUTANT ATAXIN-7, Phosphate-Binding Proteins, Gene Expression Regulation, AGGREGATE-PRONE PROTEINS, Case-Control Studies, Leukocytes, Mononuclear, Ataxia, Neurology (clinical), Transcriptome, Apoptosis Regulatory Proteins, Carrier Proteins, Lysosomes
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0b4c82f94386243d3f8415fe0a1bc15Test
https://pubmed.ncbi.nlm.nih.gov/24859968Test