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SpringerLink电子期刊(15)

在“SpringerLink电子期刊”中，命中：15条，耗时：小于0.01 秒

在所有数据库中总计命中：34条

1. Atxn2 Knockout and CAG42-Knock-in Cerebellum Shows Similarly Dysregulated Expression in Calcium Homeostasis Pathway

作者： Melanie Vanessa Halbach ; Suzana Gispert ; Tanja Stehning ; Ewa Damrath…

关键词：Atxn2 ; Itpr1 ; Rora ; Calcium ; Homeostasis ; Cerebellum ; Signaling

刊名：The Cerebellum

出版年：2017

2. GWAS and transcriptional analysis prioritize ITPR1 and CNTN4 for a serum uric acid 3p26 QTL in Mexican Americans

作者： Geetha Chittoor ; Jack W. Kent Jr ; Marcio Almeida ; Sobha Puppala…

关键词：Joint linkage/association approach ; CNTN4 ; ITPR1 ; Family ; based study

刊名：BMC Genomics

出版年：2016

3. Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene

作者： Masayuki Sasaki ; Chihiro Ohba ; Mizue Iai ; Shinichi Hirabayashi…

关键词：Spinocerebellar ataxia type 15/29 (SCA15/29) ; Infantile ; onset ; Whole ; exome sequencing (WES) ; Inositol 145 ; triphosphate receptor type 1 (ITPR1) ; ITPR1 ; related SCA

刊名：Journal of Neurology

出版年：2015

4. Antibodies to the inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) in cerebellar ataxia

作者：Sven Jarius (1)
Madeleine Scharf (2)
Nora Begemann (2)
Winfried St枚cker (2)
Christian Probst (2)
Irina I Serysheva (3)
Sigrun Nagel (4)
Francesc Graus (5)
Dimitri Psimaras (6)
Brigitte Wildemann (1)
Lars Komorowski (2)

1. Molecular Neuroimmunology ; Department of Neurology ; University of Heidelberg ; Im Neuenheimer Feld 400 ; 69120 ; Heidelberg ; Germany
2. Institute of Experimental Immunology ; affiliated to Euroimmun AG ; Seekamp 31 ; 23560 ; L眉beck ; Germany
3. Department of Biochemistry and Molecular Biology ; The University of Texas Medical School at Houston ; 6431 Fannin Street ; Houston ; TX ; 77030 ; USA
4. Leibniz Institute for Age Research/Fritz Lipmann Institute ; Beutenbergstra脽e 11 ; D-07745 ; Jena ; Germany
5. Institut d鈥?Investigaci贸 Biom猫dica August Pi i Sunyer (IDIBAPS) ; Villarroel 170 ; Barcelona ; 08036 ; Spain
6. Department of Neurology Mazarin ; H么pital Piti茅-Salp锚tri猫re ; University Ren茅 Descartes ; 47-83 ; Boulevard de l鈥橦么pital ; 75651 ; Paris ; Cedex 13 ; France

关键词：Anti ; Ca ; Anti ; Sj ; Autoantibodies ; Autoimmune cerebellar ataxia ; Inositol 145 ; trisphosphate receptor type 1 (ITPR1 ; IP3RI ; IP3R1 ; INSP3R1 ; ACV ; CLA4 ; PPP1R94 ; SCA15 ; SCA29) ; Purkinje cells ; Rho GTPase activating protein 26 (ARHGAP26 ; GTPase regulator associated with focal adhesion kinase pp125 ; GRAF ; GRAF1 ; Oligophrenin1 ; like protein ; OPHN1L)

刊名：Journal of Neuroinflammation

出版年：2014

5. 'Medusa head ataxia': the expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia. Part 1: Anti-mGluR1, anti-Homer-3, anti-Sj/ITPR1 and anti-CARP VIII

作者： S. Jarius ; B. Wildemann

关键词：Autoimmune cerebellar ataxia ; Cerebellitis ; Paraneoplastic cerebellar degeneration ; Autoantibodies ; Purkinje cells ; Metabotropic glutamate receptor 1 (mGluR1) antibodies ; Homer ; 3 antibodies ; Anti ; Sj ; Inositol 145 ; trisphosphate receptor 1 (ITPR1 ; I3PR) antibodies ; Carbonic anhydrase ; related protein VIII (CARP VIII) antibodies ; Protein kinase gamma (PKCγ) antibodies ; Anti ; Ca ; Rho GTPase ; activating protein 26 (ARHGAP26 ; GRAF) antibodies ; Glutamate receptor delta2 (GluRδ2) antibodies ; Anti ; Yo ; Cer

刊名：Journal of Neuroinflammation

出版年：2015

6. Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1

作者： Oliver P. Forman ; Luisa De Risio ; Kaspar Matiasek ; Simon Platt…

刊名：Mammalian Genome

出版年：2015

7. 'Medusa head ataxia': the expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia. Part 3: Anti-Yo/CDR2, anti-Nb/AP3B2, PCA-2, anti-Tr/DNER, other antibodies, diagnostic pitfalls, summary and outlook

作者： S. Jarius ; B. Wildemann

关键词：Autoimmune cerebellar ataxia ; Cerebellitis ; Paraneoplastic cerebellar degeneration ; Autoantibodies ; Purkinje cells ; Metabotropic glutamate receptor 1 (mGluR1) antibodies ; Homer ; 3 antibodies ; Anti ; Sj ; Inositol 145 ; trisphosphate receptor 1 (ITPR1 ; I3PR) antibodies ; Carbonic anhydrase ; related protein VIII (CARP VIII) antibodies ; Protein kinase gamma (PKCγ) antibodies ; Anti ; Ca ; Rho GTPase activating protein 26 (ARHGAP26 ; GRAF) antibodies ; Glutamate receptor delta2 (GluRδ2) antibodies ; Anti ; Yo ; Cer

刊名：Journal of Neuroinflammation

出版年：2015

8. 'Medusa head ataxia': the expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia. Part 2: Anti-PKC-gamma, anti-GluR-delta2, anti-Ca/ARHGAP26 and anti-VGCC

作者： S. Jarius ; B. Wildemann

关键词：Autoimmune cerebellar ataxia ; Cerebellitis ; Paraneoplastic cerebellar degeneration ; Autoantibodies ; Purkinje cells ; Metabotropic glutamate receptor 1 (mGluR1) antibodies ; Homer ; 3 antibodies ; Anti ; Sj ; Inositol 145 ; trisphosphate receptor 1 (ITPR1 ; I3PR) antibodies ; Carbonic anhydrase ; related protein VIII (CARP VIII) antibodies ; Protein kinase gamma (PKCγ) antibodies ; Anti ; Ca ; Rho GTPase activating protein 26 (ARHGAP26 ; GRAF) antibodies ; Glutamate receptor delta ; 2 (GluRδ2) antibodies ; Anti ; Yo ; Ce

刊名：Journal of Neuroinflammation

出版年：2015

9. Peripheral gene expression profile of mechanical hyperalgesia induced by repeated cold stress in SHRSP5/Dmcr rats

作者： Yasuko Kozaki ; Rena Umetsu ; Yukako Mizukami…

关键词：Repeated cold stress ; Mechanical hyperalgesia ; Peripheral pain mechanisms ; Pain ; related genes

刊名：The Journal of Physiological Sciences

出版年：2015

10. Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

作者：Lijia Huang (1)
Jodi Warman Chardon (2)
Melissa T Carter (3)
Kathie L Friend (4)
Tracy E Dudding (5) (6)
Jeremy Schwartzentruber (7)
Ruobing Zou (8)
Peter W Schofield (9)
Stuart Douglas (1)
Dennis E Bulman (10) (8)
Kym M Boycott (1) (2)

关键词：Congenital nonprogressive spinocerebellar ataxia ; Spinocerebellar ataxia type 29 ; Cerebellar atrophy ; ITPR1 ; Gene identification

刊名：Orphanet Journal of Rare Diseases

出版年：2012

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