نتائج البحث - "beta-III spectrin"

1

Dissertation/ Thesis

المساهمون: Jackson, Mandy, Skehel, Paul

مصطلحات موضوعية: ataxia, SCA5, cerebellum, adeno-associated virus, Purkinje cells, neuronal culture, beta-III spectrin, neurodegeneration, KN62, mibefradil, CaMKII, calcium, dendritic tree, mouse model, electrophysiology, intrinsic firing properties, input resistance, cell excitability, Purkinje cell culture, posterior cerebellum

URL الوصول: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.738814

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2

Academic Journal

Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia

المؤلفون: Nicita, Francesco, Nardella, Marta, Bellacchio, Emanuele, Alfieri, Paolo, Terrone, Gaetano, Piccini, Giorgia, Graziola, Federica, Pignata, Claudio, Capuano, Alessandro, Bertini, Enrico, Zanni, Ginevra

المساهمون: Nicita, Francesco, Nardella, Marta, Bellacchio, Emanuele, Alfieri, Paolo, Terrone, Gaetano, Piccini, Giorgia, Graziola, Federica, Pignata, Claudio, Capuano, Alessandro, Bertini, Enrico, Zanni, Ginevra

مصطلحات موضوعية: SCA5, SCAR14, SPTBN2, beta-III spectrin, congenital ataxia, spinocerebellar ataxia

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000474933200008; volume:96; issue:2; firstpage:169; lastpage:175; numberofpages:7; journal:CLINICAL GENETICS; http://hdl.handle.net/11588/752322; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85067381916; https://www.ncbi.nlm.nih.gov/pubmed/?term=Heterozygous+missense+variants+of+SPTBN2+are+a+frequent+cause+of+congenital+cerebellar+ataxia

الاتاحة: http://hdl.handle.net/11588/752322
https://doi.org/10.1111/cge.13562
https://www.ncbi.nlm.nih.gov/pubmed/?term=Heterozygous+missense+variants+of+SPTBN2+are+a+frequent+cause+of+congenital+cerebellar+ataxia

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3

Academic Journal

Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation

المؤلفون: Forman Oliver P, De Risio Luisa, Stewart Jennifer, Mellersh Cathryn S, Beltran Elsa

المصدر: BMC Genetics, Vol 13, Iss 1, p 55 (2012)

مصطلحات موضوعية: Beta-III spectrin, Beagle dogs, Cerebellar cortical degeneration, Spinocerebellar ataxia type 5, Genome-wide mRNA sequencing, Cerebellum, mRNA-seq, SPTBN2, Canine, Next generation sequencing, Genetics, QH426-470

Relation: http://www.biomedcentral.com/1471-2156/13/55; https://doaj.org/toc/1471-2156; https://doaj.org/article/b69fb2375a8c4df7aa894747cdf61207

الاتاحة: https://doi.org/10.1186/1471-2156-13-55
https://doaj.org/article/b69fb2375a8c4df7aa894747cdf61207

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Full Text Finder

4

Academic Journal

Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation

المؤلفون: Forman, Oliver P, De Risio, Luisa, Stewart, Jennifer, Mellersh, Cathryn S, Beltran, Elsa

مصطلحات موضوعية: Beta-III spectrin, Beagle dogs, Cerebellar cortical degeneration, Spinocerebellar ataxia type 5, Genome-wide mRNA sequencing, Cerebellum, mRNA-seq, SPTBN2, Canine, Next generation sequencing

Relation: http://www.biomedcentral.com/1471-2156/13/55

الاتاحة: http://www.biomedcentral.com/1471-2156/13/55

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5

Climbing fibers in spinocerebellar ataxia

المصدر: Neurobiology of Disease. 88:96-106

مصطلحات موضوعية: BETA-III SPECTRIN, M-AAA PROTEASE, Common pathology, LONG-TERM DEPRESSION, Mouse models, CEREBELLAR PURKINJE-CELLS, Synaptic plasticity, CALCIUM TRANSIENTS, SYNAPTIC PLASTICITY, Climbing fibers, NMDA RECEPTOR, CAG TRINUCLEOTIDE REPEAT, Spinocerebellar ataxia, Glutamate, MUTATIONS CAUSE, COMPLEX SPIKE

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dris___01423::4f7f63b77bc92475b9d043c080866b75
https://research.rug.nl/en/publications/dd3cbf40-a385-4df1-a27a-32cbe2fccef8

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6

Climbing fibers in spinocerebellar ataxia: A mechanism for the loss of motor control

المؤلفون: Dineke S. Verbeek, Cleo J. L. M. Smeets

المصدر: Neurobiology of Disease, Vol 88, Iss, Pp 96-106 (2016)
Neurobiology of Disease

مصطلحات موضوعية: 0301 basic medicine, Cerebellum, Movement disorders, BETA-III SPECTRIN, Biology, Mouse models, CALCIUM TRANSIENTS, Synaptic plasticity, lcsh:RC321-571, 03 medical and health sciences, Nerve Fibers, 0302 clinical medicine, medicine, Animals, Humans, Spinocerebellar Ataxias, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Movement Disorders, Mechanism (biology), M-AAA PROTEASE, Common pathology, LONG-TERM DEPRESSION, Motor control, Climbing fiber, CEREBELLAR PURKINJE-CELLS, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Neurology, Climbing, NMDA RECEPTOR, Mutation (genetic algorithm), Climbing fibers, Spinocerebellar ataxia, CAG TRINUCLEOTIDE REPEAT, MUTATIONS CAUSE, medicine.symptom, Glutamate, COMPLEX SPIKE, Neuroscience, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac65e985e42d35f3e14665d6fc7b8028
http://www.sciencedirect.com/science/article/pii/S0969996116300092

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7

Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia

المؤلفون: Ginevra Zanni, Francesco Nicita, Federica Graziola, Giorgia Piccini, Claudio Pignata, Paolo Alfieri, Marta Nardella, Enrico Bertini, Alessandro Capuano, Emanuele Bellacchio, Gaetano Terrone

المساهمون: Nicita, Francesco, Nardella, Marta, Bellacchio, Emanuele, Alfieri, Paolo, Terrone, Gaetano, Piccini, Giorgia, Graziola, Federica, Pignata, Claudio, Capuano, Alessandro, Bertini, Enrico, Zanni, Ginevra

المصدر: Clinical genetics. 96(2)

مصطلحات موضوعية: 0301 basic medicine, Models, Molecular, Heterozygote, Ataxia, Adolescent, Cerebellar Ataxia, Mutation, Missense, 030105 genetics & heredity, beta-III spectrin, Compound heterozygosity, 03 medical and health sciences, spinocerebellar ataxia, SCA5, Genetics, medicine, Missense mutation, Humans, Spectrin, Genetic Predisposition to Disease, Global developmental delay, Amino Acid Sequence, congenital ataxia, Child, Genetics (clinical), Loss function, Alleles, Genetic Association Studies, Cerebellar ataxia, business.industry, SCAR14, Computational Biology, High-Throughput Nucleotide Sequencing, Infant, medicine.disease, Pedigree, SPTBN2, 030104 developmental biology, Phenotype, Child, Preschool, Spinocerebellar ataxia, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd4e0cf7bcf73f69d0160a4469bec2c5
https://pubmed.ncbi.nlm.nih.gov/31066025

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8

Academic Journal

Climbing fibers in spinocerebellar ataxia:A mechanism for the loss of motor control

المؤلفون: Smeets, C. J. L. M., Verbeek, D. S.

المصدر: Smeets , C J L M & Verbeek , D S 2016 , ' Climbing fibers in spinocerebellar ataxia : A mechanism for the loss of motor control ' , Neurobiology of Disease , vol. 88 , pp. 96-106 . https://doi.org/10.1016/j.nbd.2016.01.009

مصطلحات موضوعية: Spinocerebellar ataxia, Climbing fibers, Synaptic plasticity, Glutamate, Common pathology, Mouse models, LONG-TERM DEPRESSION, CEREBELLAR PURKINJE-CELLS, BETA-III SPECTRIN, CAG TRINUCLEOTIDE REPEAT, M-AAA PROTEASE, MUTATIONS CAUSE, CALCIUM TRANSIENTS, NMDA RECEPTOR, COMPLEX SPIKE