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在“Elsevier电子期刊”中，命中：95条，耗时：0.0619651 秒

在所有数据库中总计命中：222条

1.Early cardiac involvement in an infantile Sandhoff disease case with novel mutations

作者：Hsiu-Fen Lee^a ; ^c ; ¹ ; ^{leehf@hotmail.com.tw} ; Ching-Shiang Chi^b ; ^c ; ^{chi-cs@hotmail.com} ; Chi-Ren Tsai^a ; ^d ; ¹ ; ^{n20248@vghtc.gov.tw}

关键词：Metabolic cardiomyopathy ; Infantile Sandhoff disease ; HEXB gene mutation ; Cardiac manifestations ; Neurological features

刊名：Brain and Development

出版年：2017

2.AAV-mediated gene delivery attenuates neuroinflammation in feline Sandhoff disease

作者：Allison M. Bradbury^a ; ^b ; ^&dagger ; ; ^{brada@upenn.edu} ; Tiffany A. Peterson^a ; ^&Dagger ; ; Amanda L. Gross^a ; Stephen Z. Wells^c ; Victoria J. McCurdy^a ; ^b ; ^§ ; ; Karen G. Wolfe^b ; John C. Dennis^b ; Brandon L. Brunson^b ; Heather Gray-Edwards^a ; Ashley N. Randle^a ; Aime K. Johnson^c ; Edward E. Morrison^b ; Nancy R. Cox^a ; ^d ; Henry J. Baker^a ; Miguel Sena-Esteves^e ; Douglas R. Martin^a ; ^b

关键词：AAV ; adeno-associated virus ; CNS ; central nervous system ; DCN ; deep cerebellar nuclei ; GFAP ; glial fibrillary acidic protein ; Hex ; β-N-acetylhexosaminidase ; Iba1 ; ionized calcium-binding protein 1 ; ICV ; intracerebroventricular ; IL-1β ; interleukin 1 beta ; MHC-II ; major histocompatibility complex II ; MIP-1α ; macrophage inflammatory protein-1 alpha ; PBMC ; peripheral blood mononuclear cell ; SD ; Sandhoff disease ; Sphk1 ; sphingosine kinase 1 ; TGFβ1 ; transforming growth factor beta 1 ; TNF-α ; tumor necr

刊名：Neuroscience

出版年：2017

3.TSPO in a murine model of Sandhoff disease: presymptomatic marker of neurodegeneration and disease pathophysiology

作者：Meredith K. Loth^a ; ¹ ; Judy Choi^a ; ¹ ; Jennifer L. McGlothan^a ; Mikhail V. Pletnikov^c ; Martin G. Pomper^b ; Tomá ; s R. Guilarte^a ; ^b ; ^{trg2113@cumc.columbia.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：Translocator protein 18 ; kDa ; TSPO ; Sandhoff disease ; Biomarker ; Microglia ; Astrocytes ; Neurodegeneration

刊名：Neurobiology of Disease

出版年：2016

4.Cardiovascular manifestations of feline Sandhoff disease after intravenous AAV gene therapy

作者：Lauren E Ellis^a ; Randolph Winter^b ; Heather L Gray-Edwards^a ; Stacy Maitland^c ; ^d ; Ashley E Randle^a ; Robert Edwards^e ; Miguel Sena-Esteves^c ; ^d ; Douglas R Martin^a ; Raymond Y Wang^f

刊名：Molecular Genetics and Metabolism

出版年：2017

5.Bi-phasic gliosis drives neuropathology in a Sandhoff disease mouse model

作者：Alexander W.M. Hooper^a ; ¹ ; ^{hooperaw@Mcmaster.ca" class="auth_mail" title="E-mail the corresponding author} ; Suleiman A. Igdoura^a ; ^b ; ¹ ; ^{igdoura@Mcmaster.ca" class="auth_mail" title="E-mail the corresponding author}

关键词：AMPAR ; α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor ; CNS ; central nervous system ; DKO ; double knockout ; GFAP ; glial fibrillary acidic protein ; IL-6 ; interleukin-6 ; NF-L ; neurofilament-L ; PBMC ; peripheral blood mononuclear cells ; PSD-95 ; post-synaptic density protein-95 ; SD ; Sandhoff disease ; TSD ; Tay-Sachs disease ; TNFα ; tumour necrosis factor-alpha ; WT ; wild-type

刊名：Journal of Neuroimmunology

出版年：2016

6.Canine GM2-gangliosidosis (Sandhoff disease) caused by a 3 base pair deletion in the HEXB gene

刊名：Molecular Genetics and Metabolism

出版年：2017

7.Circadian profiling in two mouse models of lysosomal storage disorders; Niemann Pick type-C and Sandhoff disease

作者：Katie Richardson^a ; ¹ ; Achilleas Livieratos^a ; ¹ ; Richard Dumbill^a ; Steven Hughes^b ; Gauri Ang^a ; David A. Smith^c ; Lauren Morris^c ; Laurence A. Brown^b ; Stuart N. Peirson^b ; Frances M. Platt^c ; Kay E. Davies^a ; ^{kay.davies@dpag.ox.ac.uk" class="auth_mail" title="E-mail the corresponding author} ; Peter L. Oliver^a ; ^{peter.oliver@dpag.ox.ac.uk" class="auth_mail" title="E-mail the corresponding author}

关键词：Lysosome storage disorder ; Ataxia ; Mouse mutant ; Circadian

刊名：Behavioural Brain Research

出版年：2016

8.Combined replacement effects of human modified β-hexosaminidase B and GM2 activator protein on GM2 gangliosidoses fibroblasts

作者：Keisuke Kitakaze^a ; Chikako Tasaki^a ; Youichi Tajima^b ; Takatsugu Hirokawa^c ; Daisuke Tsuji^a ; Hitoshi Sakuraba^d ; Kohji Itoh^a ; ^{kitoh@tokushima-u.ac.jp" class="auth_mail" title="E-mail the corresponding author}

关键词：CI-M6PR ; cation-independent M6P receptor ; CM ; conditioned medium ; ERT ; enzyme replacement therapy ; GM2 ; GM2 ganglioside ; GM2A ; GM2 activator protein ; Hex ; β-hexosaminidase ; LAMP-1 ; lysosomal associated membrane protein 1 ; LSD ; lysosomal storage disease ; M6P ; mannose-6-phosphate ; modB ; modified HexB ; SD ; Sandhoff disease ; TSD ; Tay-Sachs disease

刊名：Biochemistry and Biophysics Reports

出版年：2016

9.Mucopolysaccharidosis-like phenotype in feline Sandhoff disease and partial correction after AAV gene therapy

作者：Heather L. Gray-Edwards^a ; ^{grayhea@auburn.edu" class="auth_mail" title="E-mail the corresponding author} ; Brandon L. Brunson^b ; Merrilee Holland^c ; Adrien-Maxence Hespel^c ; Allison M. Bradbury^a ; ^b ; ¹ ; Victoria J. McCurdy^a ; ^b ; ² ; Patricia M. Beadlescomb^a ; ^b ; Ashley N. Randle^a ; Nouha Salibi^d ; ^e ; Thomas S. Denney^e ; ^f ; Ronald J. Beyers^e ; Aime K. Johnson^c ; Meredith L. Voyles^c ; Ronald D. Montgomery^c ; Diane U. Wilson^a ; ^c ; Judith A. Hudson^c ; Nancy R. Cox^a ; ^g ; Henry J. Baker^a ; ^g ; Miguel Sena-Esteves^h ; Douglas R. Martin^a ; ^b

关键词：Sandhoff disease ; Lysosomal storage disease ; Gene therapy ; Bone ; Heart ; GM2 gangliosidosis

刊名：Molecular Genetics and Metabolism

出版年：2015

10.Accumulated α-synuclein affects the progression of GM2 gangliosidoses

作者：Kyoko Suzuki^a ; Akira Yamaguchi^b ; ^{yamaguchiakira@mac.com" class="auth_mail" title="E-mail the corresponding author} ; Shoji Yamanaka^b ; Seiichi Kanzaki^b ; Masato Kawashima^b ; Takashi Togo^a ; Omi Katsuse^a ; Noriko Koumitsu^c ; Naoya Aoki^a ; Eizo Iseki^d ; Kenji Kosaka^a ; Kayoko Yamaguchi^b ; Makoto Hashimoto^e ; Ichiro Aoki^b ; Yoshio Hirayasu^a

关键词：Sandhoff disease ; GM2 gangliosidoses ; Alpha-synuclein ; Manganese superoxide dismutase 2 ; Autophagy ; Reactive oxygen species

刊名：Experimental Neurology

出版年：2016

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