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在“Elsevier电子期刊”中，命中：33条，耗时：小于0.01 秒

1.Optical coherence tomography findings in a patient with type 1 sialidosis

作者：Hannah M. Kersten^a ; Richard H. Roxburgh^b ; Helen V. Danesh-Meyer^a ; David O. Hutchinson^b ; ^{DHutch@adhb.govt.nz" class="auth_mail" title="E-mail the corresponding author}

关键词：Cherry-red spot ; Myoclonus ; Optical coherence tomography ; Retina ; Sialidosis

刊名：Journal of Clinical Neuroscience

出版年：2016

2.Macular cherry red spot is an important diagnostic marker in children with myoclonic epilepsies

作者：Minal V. Kekatpure^a ; ¹ ; K.P. Vinayan^a ; ^{vinayankp@aims.amrita.edu} ; Sheela Nampoothiri^b ; Gopal Pillai^c ; Anand Kumar^d

关键词：Cherry red spot ; Symptomatic myoclonus ; Gangliosidosis ; Sialidosis

刊名：International Journal of Epilepsy

出版年：2016

3.Chaperone mediated gene therapy for type I sialidosis

作者：Ida Annunziata ; Huimin Hu ; Elida Gomero ; Alessandra d'Azzo

刊名：Molecular Genetics and Metabolism

出版年：2016

4.Histological, biochemical, and genetic characterization of early-onset fulminating sialidosis type 2 in a Korean neonate with hydrops fetalis

作者：Beom Hee Lee ; Yoo-Mi Kim ; Joo Hyun Kim ; Gu-Hwan Kim ; Byong Sop Lee ; Chong Jai Kim ; Hyun Ju Yoo ; Han-Wook Yoo

关键词：Hydrops fetalis ; Sialidosis ; Placental biopsy

刊名：Brain and Development

出版年：February, 2014

5.Variable phenotype and severity of sialidosis expressed in two siblings presenting with ataxia and macular cherry-red spots

作者：Wladimir Bocca Vieira de Rezende Pinto ; Paulo Victor Sgobbi de Souza ; Jos¨¦ Luiz Pedroso ; Orl ; o G.P. Barsottini

关键词：Clinical variability ; Macular cherry-red spots ; Neuraminidase deficiency ; Sialidosis

刊名：Journal of Clinical Neuroscience

出版年：2013

6.Functional neuroimages of cortical myoclonus altered by levetiracetam in a patient with sialidosis

作者：Kuan-Fei Chen^a ; ^e ; ^f ; Szu-Chia Lai^c ; Yu-Chin Wu^b ; ^g ; Chin-Song Lu^c ; Ming-Kuei Lu^a ; ^d ; Chon-Haw Tsai^a ; ^d ; ^e ; ^{windymovement@yahoo.com.tw}

关键词：Levetiracetam ; Myoclonus ; Sialidosis

刊名：Journal of Clinical Neuroscience

出版年：2013

7.The therapeutic potential of pharmacological chaperones and proteosomal inhibitors, Celastrol and MG132 in the treatment of sialidosis

作者：Erin M. O'Leary ; Suleiman A. Igdoura

关键词：Sialidosis ; MG 132 ; Celastrol ; Gangliosides ; Lysosomal Storage Disorder ; Enzyme enhancement treatment

刊名：Molecular Genetics and Metabolism

出版年：2012

8.Chaperone-mediated gene therapy with recombinant AAV-PPCA in a new mouse model of type I sialidosis

作者：Erik J. Bonten ; Gouri Yogalingam ; Huimin Hu ; Elida Gomero ; Diantha van de Vlekkert ; Aless ; ra d'Azzo

关键词：BMEF ; bone marrow extracellular fluid ; ERT ; enzyme replacement therapy ; FACE ; fluorophore-assisted carbohydrate electrophoresis ; GS ; galactosialidosis ; IHC ; immunohistochemistry ; KO ; knockout ; KO/TG ; knockout&ndash ; transgenic ; LSD ; lysosomal storage disea

刊名：Biochimica et Biophysica Acta (BBA)/Molecular Basis of Disease

出版年：2013

9.A novel insulin receptor-signaling platform and its link to insulin resistance and type 2 diabetes

作者：Farah Alghamdi¹ ; ^{farah_gg@hotmail.com" class="auth_mail} ; Merry Guo² ; ^{merry.guo11@gmail.com" class="auth_mail} ; Samar Abdulkhalek³ ; ^{samarma@hotmail.com" class="auth_mail} ; Nicola Crawford⁴ ; ^{nicola.crawford@medportal.ca" class="auth_mail} ; Schammim Ray Amith⁵ ; ^{amith@ualberta.ca" class="auth_mail} ; Myron R. Szewczuk ; ^{szewczuk@queensu.ca" class="auth_mail}

关键词：IR ; insulin receptor ; IRS1 ; insulin receptor substrate-1 ; IGF-R ; insulin growth factor receptor ; EGF ; epidermal growth factor ; MMP ; matrix metalloproteinase ; RTK ; receptor tyrosine kinase ; NGF ; nerve growth factor ; Neu1 ; mammalian neuraminidase-1 ; 4-MUNANA ; [2&prime ; -(4-methylumbelliferyl)-伪-d-N-acetylneuraminic acid] ; DANA ; 2-deoxy-2 ; 3-didehydro-N-acetylneuraminic acid ; IC50 ; the concentration of a drug that is required for 50% inhibition in vitro ; TLR ; Toll-like receptor ; GPCR ; G-protein-coup

刊名：Cellular Signalling

出版年：June, 2014

10.Characterization of severe action myoclonus in sialidoses

作者：Laura Canafoglia^a ; ^{canafoglia@istituto-besta.it} ; Silvana Franceschetti^a ; Graziella Uziel^b ; Claudia Ciano^a ; Vidmer Scaioli^a ; Renzo Guerrini^c ; Elisa Visani^a ; Ferruccio Panzica^a

关键词：Sialidosis ; Unverricht– ; Lundborg disease ; Progressive myoclonus epilepsy ; Cortical rhythmic myoclonus ; Spectral analysis ; EEG– ; EMG coherence

刊名：Epilepsy Research

出版年：2011

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