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1دورية أكاديمية
المصدر: Behavioral and Brain Functions, Vol 18, Iss 1, Pp 1-10 (2022)
مصطلحات موضوعية: Elovl5, Spino-cerebellar ataxia, SCA38, Motor deficits, Polyunsaturated fatty acids, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1744-9081
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2دورية أكاديمية
المؤلفون: Balbo, Ilaria, Montarolo, FrancescaAff1, Aff3, Genovese, Federica, Tempia, FilippoAff1, Aff2, Hoxha, EriolaAff1, Aff2, IDs12993022001944_cor5
المصدر: Behavioral and Brain Functions. 18(1)
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المؤلفون: Enza Ferrero, Eleonora Di Gregorio, Marta Ferrero, Erika Ortolan, Young-Ah Moon, Antonella Di Campli, Lisa Pavinato, Cecilia Mancini, Debasmita Tripathy, Marta Manes, Eriola Hoxha, Chiara Costanzi, Elisa Pozzi, Matteo Rossi Sebastiano, Nico Mitro, Filippo Tempia, Donatella Caruso, Barbara Borroni, Manuela Basso, Michele Sallese, Alfredo Brusco
مصطلحات موضوعية: ER/Golgi stress, fatty acid elongase, ELOVL, ataxia, SCA38, conformational disease, ER/Golgi stress, SCA38, fatty acid elongase, ataxia, Genetics, ELOVL, Genetics (clinical), conformational disease
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f91e8071f8c8ed9a156ba4239a4c896
https://hdl.handle.net/2318/1904432 -
4دورية أكاديمية
المؤلفون: Nesli-Ece Sen, Aleksandar Arsovic, David Meierhofer, Susanne Brodesser, Carola Oberschmidt, Júlia Canet-Pons, Zeynep-Ece Kaya, Melanie-Vanessa Halbach, Suzana Gispert, Konrad Sandhoff, Georg Auburger
المصدر: International Journal of Molecular Sciences, Vol 20, Iss 23, p 5854 (2019)
مصطلحات موضوعية: olivo-ponto-cerebellar atrophy (opca), amyotrophic lateral sclerosis (als), leukodystrophy, ceramide synthase (cers2/cers1), serine palmitoyltransferase 2 (sptlc2), neutral sphingomyelinase (smpd3), neutral ceramidase (asah2), fatty acid elongase (elovl1/4/5), sca34, sca38, acid sphingomyelinase (asmase, smpd1), Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Eriola Hoxha, Rebecca M. C. Gabriele, Ilaria Balbo, Francesco Ravera, Linda Masante, Vanessa Zambelli, Cristian Albergo, Nico Mitro, Donatella Caruso, Eleonora Di Gregorio, Alfredo Brusco, Barbara Borroni, Filippo Tempia
المصدر: Frontiers in Cellular Neuroscience, Vol 11 (2017)
مصطلحات موضوعية: ELOVL5, spinocerebellar ataxia type 38 (SCA38), hyposmia, motor deficit, Purkinje cell, dendrites, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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المؤلفون: Georg Auburger, Susanne Brodesser, Zeynep-Ece Kaya, Júlia Canet-Pons, Aleksandar Arsovic, Carola Oberschmidt, Nesli-Ece Sen, Suzana Gispert, Konrad Sandhoff, Melanie-Vanessa Halbach, David Meierhofer
المساهمون: İÜC, Cerrahpaşa Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü
المصدر: International Journal of Molecular Sciences, Vol 20, Iss 23, p 5854 (2019)
International Journal of Molecular Sciences
Volume 20
Issue 23مصطلحات موضوعية: acid sphingomyelinase (ASMase, leukodystrophy, amyotrophic lateral sclerosis (ALS), neutral sphingomyelinase (Smpd3), neutral ceramidase (asah2), serine palmitoyltransferase 2 (sptlc2), smpd1), lcsh:Chemistry, Myelin, chemistry.chemical_compound, fatty acid elongase (Elovl1/4/5), Sphingosine N-Acyltransferase, lcsh:QH301-705.5, Spectroscopy, Ataxin-2, Mice, Knockout, General Medicine, Computer Science Applications, Cell biology, Sphingomyelins, SCA38, medicine.anatomical_structure, Sphingomyelin Phosphodiesterase, amyotrophic lateral sclerosis (als), acid sphingomyelinase (asmase, SCA34, Knockout mouse, Spinocerebellar ataxia, sca34, lipids (amino acids, peptides, and proteins), Sphingomyelin, sca38, Ceramide, olivo-ponto-cerebellar atrophy (opca), Biology, Ceramides, Catalysis, Article, Inorganic Chemistry, ddc:570, medicine, Animals, Humans, Spinocerebellar Ataxias, serine palmitoyltransferase 2 (Sptlc2), ddc:610, Physical and Theoretical Chemistry, Eye Proteins, Molecular Biology, Smpd1), Sphingosine, fatty acid elongase (elovl1/4/5), Nervous tissue, Organic Chemistry, Membrane Proteins, olivo-ponto-cerebellar atrophy (OPCA), medicine.disease, Lipid Metabolism, ceramide synthase (cers2/cers1), Disease Models, Animal, chemistry, lcsh:Biology (General), lcsh:QD1-999, Ataxin, neutral sphingomyelinase (smpd3), neutral ceramidase (Asah2), ceramide synthase (CERS2/CERS1), Trinucleotide Repeat Expansion
وصف الملف: application/pdf; application/zip; application/octet-stream
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المؤلفون: Enrico Premi, Donatella Caruso, Chiara Costanzi, Marta Ferrero, Laura Orsi, Barbara Paghera, Barbara Borroni, Maria Pia Pasolini, Nico Mitro, Filippo Tempia, Antonella Alberici, Alessando Padovani, Alfredo Brusco, Marta Manes, Eleonora Di Gregorio, Claudia Pani, Loredana Boccone
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Ataxia, Neurology, Docosahexaenoic Acids, Fatty Acid Elongases, Cerebellum, Clinical trial, Docosahexaenoic acid (DHA), Spinocerebellar ataxia 38 (SCA38), Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Geriatrics and Gerontology, Neurology (clinical), Fluorodeoxyglucose F18, Internal medicine, medicine, Humans, Spinocerebellar Ataxias, business.industry, Electromyography, Extension study, Middle Aged, medicine.disease, Electric Stimulation, 030104 developmental biology, Docosahexaenoic acid, Positron-Emission Tomography, Spinocerebellar ataxia, Female, ELOVL5 gene, Open label, medicine.symptom, Radiopharmaceuticals, business, 030217 neurology & neurosurgery, Follow-Up Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::950ece7e482b4b0ff682a9b8ecfeefa9
http://hdl.handle.net/2318/1694891 -
8دورية أكاديمية
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المؤلفون: Laura Orsi, Chiara Costanzi, Donatella Caruso, Filippo Tempia, Nico Mitro, Marta Manes, Eleonora Di Gregorio, Barbara Borroni, Loredana Boccone, Lorenzo Pinessi, Alfredo Brusco, Alessandro Padovani, Giovanna Vaula
المصدر: Parkinsonism & Related Disorders
مصطلحات موضوعية: 0301 basic medicine, Male, Cerebellum, medicine.disease_cause, Gene, Ataxia, ELOVL5, Mutation, SCA38, 0302 clinical medicine, Age of Onset, chemistry.chemical_classification, Genetics, Aged, 80 and over, Middle Aged, Pedigree, medicine.anatomical_structure, Italy, Neurology, Cerebellar cortex, Spinocerebellar ataxia, Disease Progression, Female, medicine.symptom, Adult, Fatty Acid Elongases, Clinical Neurology, Biology, Article, 03 medical and health sciences, Cerebellar Cortex, Acetyltransferases, medicine, Humans, Spinocerebellar Ataxias, Aged, medicine.disease, Molecular biology, 030104 developmental biology, Enzyme, chemistry, Neurology (clinical), ELOVL5 gene, Geriatrics and Gerontology, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5dd7c96048d62f018bbf597a408389a
http://hdl.handle.net/2318/1569517 -
10دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.