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在“Elsevier”中，命中：40条，耗时：0.0479762 秒

1.Autophagy and polyglutamine diseases

作者：Maria Jimenez-Sanchez¹ ; Frances Thomson¹ ; Eszter Zavodszky¹ ; David C. Rubinsztein ; ^{dcr1000@hermes.cam.ac.uk}

关键词：HD ; Huntington's disease ; SCA ; spinocerebellar ataxia ; DRPLA ; Denatorubral-pallidoluysian atrophy ; SBMA ; spinal and bulbar muscular atropy ; Htt ; Huntingtin ; UPS ; ubiquitin&ndash ; proteasome system ; HDL-2 ; Huntington's disease-like 2 ; IBs ; inclusion bodies

刊名：Progress in Neurobiology

出版年：2012

2.DRPLA transgenic mouse substrains carrying single copy of full-length mutant human DRPLA gene with variable sizes of expanded CAG repeats exhibit CAG repeat length- and age-dependent changes in behavioral abnormalities and gene expression profiles

作者：Kazushi Suzuki^a ; ¹ ; Jiayi Zhou^a ; ¹ ; ² ; Toshiya Sato^b ; Keizo Takao^e ; ^f ; ^g ; Tsuyoshi Miyagawa^e ; ^f ; ^g ; Mutsuo Oyake^c ; ³ ; Mitunori Yamada^d ; Hitoshi Takahashi^d ; Yuji Takahashi^a ; Jun Goto^a ; Shoji Tsuji^a ; ^{tsuji@m.u-tokyo.ac.jp}

关键词：ANOVA ; analysis of variance ; CDK ; cyclin-dependent kinase ; CREB ; cAMP response element-binding protein ; DRPLA ; dentatorubral-pallidoluysian atrophy ; GO ; gene ontology ; KO ; knock-out ; MAPK ; mitogen-activated protein kinase ; MJD ; Machado&ndash ; Joseph diseas

刊名：Neurobiology of Disease

出版年：2012

3.The ataxia–oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4

作者：Clements ; Paula M. ; Breslin ; Claire ; Deeks ; Emma D. ; Byrd ; Philip J. ; Ju ; Limei ; Bieganowski ; Pawel ; et. al.

关键词：Ataxia&ndash ; oculomotor apraxia 1 ; Single-strand break ; Double-strand break

刊名：DNA Repair

出版年：2004

4.Ataxia–telangiectasia, an evolving phenotype

作者：Chun ; Helen H. ; Gatti ; Richard A.

关键词：Ataxia&ndash ; telangiectasia ; ATM gene ; Variants ; Radiosensitivity ; Diagnosis

刊名：DNA Repair

出版年：2004

5.TREATMENT WITH A CATALYTIC ANTIOXIDANT CORRECTS THE NEUROBEHAVIORAL DEFECT IN ATAXIA–TELANGIECTASIA MICE

作者：Browne ; Susan E. ; Roberts II ; L. Jackson ; Dennery ; Phyllis A. ; Doctrow ; Susan R. ; Beal ; M. Flint ; et. al.

关键词：Ataxia&ndash ; telangiectasia ; Oxidative stress ; Antioxidant ; Superoxide dismutase ; Catalase ; Salen-manganese antioxidant ; Thymoma ; Free radicals

刊名：Free Radical Biology and Medicine

出版年：2004

6.The inhibition of poly(ADP–ribose) polymerase enhances growth rates of ataxia telangiectasia cells

作者：Marecki ; John C. ; McCord ; Joe M.

关键词：Poly(ADP&ndash ; ribose) polymerase ; PARP-1 ; Ataxia telangiectasia ; ATM ; NAD ; ATP ; 3-amino benzamide ; 1 ; 5-dihydroisoquinoline

刊名：Archives of Biochemistry and Biophysics

出版年：2002

7.Lower urinary tract dysfunction in Machado–Joseph disease: a study of 11 clinical-urodynamic observations

作者：Sakakibara ; Ryuji ; Uchiyama ; Tomoyuki ; Arai ; Kimihito ; Yamanishi ; Tomonori ; Hattori ; Takamichi

关键词：Machado&ndash ; Joseph Disease ; Lower urinary tract dysfunction ; Detrusor overactivity ; Impaired bladder sensation ; Neurogenic sphincter EMG

刊名：Journal of the Neurological Sciences

出版年：2004

8.Memory loss and ataxia after hyperemesis gravidarum: a case of Wernicke–Korsakoff syndrome

作者：Accetta ; Solange G. ; Abeche ; Alberto M. ; Buchabqui ; Jorge A. ; Hammes ; Luciano ; Pratti ; Raquel ; et. al.

关键词：Hyperemesis gravidarum ; Vomiting ; Wernicke&ndash ; Korsakoff encephalopathy ; Thiamin deficiency

刊名：European Journal of Obstetrics and Gynecology and Reproductive Biology

出版年：2002

9.The molecular pathogenesis of Friedreich ataxia

作者：Puccio ; Hé ; lè ; ne ; K&oelig ; nig ; Michel

关键词：Friedreich ataxia ; Molecular pathogenesis ; Iron&ndash ; sulfur proteins

刊名：Clinical Neuroscience Research

出版年：2001

10.Alteration of the ATM gene occurs in gastric cancer cell lines and primary tumors associated with cellular response to DNA damage

作者：Zhang ; Lian ; Jia ; Guang ; Li ; Wen-Mei ; Guo ; Rui-Fang ; Cui ; Jian-Tao ; Yang ; Lin ; Lu ; You-Yong

关键词：ATM ; ataxia telangiectasia mutated ; DHPLC ; denaturing high-performance liquid chromatography ; AT ; ataxia telangietasia ; Gastric cancer ; ATM gene ; Mutation ; Cell cycle ; Apoptosis ; p53 ; Ionizing radiation

刊名：Mutation Research/Genetic Toxicology and Environmental Mutagenesis

出版年：2004

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