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在“Elsevier电子期刊”中，命中：58条，耗时：小于0.01 秒

1.In-silico structural analysis of E509K mutation in LARGE and T192M mutation in Alpha Dystroglycan in the inhibition of glycosylation of Alpha Dystroglycan by LARGE

作者：Simanti Bhattacharya ^{simanti.bhattacharya@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Amit Das ^{amit.das.ku@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Angshuman Bagchi ; ^{angshu@klyuniv.ac.in" class="auth_mail" title="E-mail the corresponding author} ; ^{angshuman_bagchi@yahoo.com" class="auth_mail" title="E-mail the corresponding author}

关键词：DMD ; Duchenne Muscular Dystrophy ; α-DG ; Alpha Dystroglycan ; DAPC ; Dystrophin Associated Protein Complex ; MDDGC9 ; Muscular Dystrophy Dystroglycanopathy type C9 ; OMIM ; Online Mendelian Inheritance in Man ; EC ; Enzyme Commission number ; MDDGB6 ; Muscular Dystrophy Dystroglycanopathy type B6 ; GlcA ; glucuronic acid ; Xyl ; Xylosyl moety ; PDB ; Protein Data Bank ; WT ; Wild type ; MT ; Mutant

刊名：Computational Biology and Chemistry

出版年：2016

2.TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement

作者：Guja Astrea^a ; Ilaria Pezzini^a ; Ester Picillo^b ; Rosa Pasquariello^a ; Francesca Moro^a ; Manuela Ergoli^b ; Paola D'Ambrosio^b ; Adele D'Amico^c ; Luisa Politano^b ; Filippo Maria Santorelli^a ; ^{filippo3364@gmail.com" class="auth_mail" title="E-mail the corresponding author}

关键词：Congenital muscular dystrophy ; TMEM5 ; Polymicrogyria ; Cochlear dysplasia ; Limb-girdle muscle weakness

刊名：Neuromuscular Disorders

出版年：2016

3.Choline Kinase Beta-Related Muscular Dystrophy, Appearance of Muscle Involvement on Magnetic Resonance Imaging

作者：Christian De Goede ; FRCPCH FRCP Edin^a ; ^{Christian.degoede@lthtr.nhs.uk" class="auth_mail" title="E-mail the corresponding author} ; Teik Oh ; FRCR^b ; Jacob Joseph ; FRCPath^c ; Francesco Muntoni ; MD^d ; Caroline Sewry ; PhD ; FRCPath^d ; Rahul Phadke ; MD ; FRCPath^d

关键词：muscle MRI ; muscular dystrophy ; choline kinase beta ; mitochondria ; learning difficulties

刊名：Pediatric Neurology

出版年：2016

4.Differential diagnosis of ventriculomegaly and brainstem kinking on fetal MRI

作者：Tali Amir^a ; Andrea Poretti^a ; ^b ; Eugen Boltshauser^b ; Thierry A.G.M. Huisman^a ; ^{thuisma1@jhmi.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：Magnetic resonance imaging ; Fetal ; Cerebellum ; Brainstem ; Congenital muscular dystrophy ; Tubulinopathy ; Ventriculomegaly

刊名：Brain and Development

出版年：2016

5.Small molecules enhance functional O-mannosylation of Alpha-dystroglycan

作者：Fengping Lv^a ; ^&dagger ; ; Zhi-fang Li^b ; ^c ; ^&dagger ; ; Wenhao Hu^a ; ^{whu@chem.ecnu.edu.cn" class="auth_mail" title="E-mail the corresponding author} ; Xiaohua Wu^b ; ^c ; ^{xwu@mannanpharma.com" class="auth_mail" title="E-mail the corresponding author}

关键词：Dystroglycan ; Dystroglycanopathy ; O-Mannosylation ; Cell-based high-throughput screening

刊名：Bioorganic & Medicinal Chemistry

出版年：2015

6.Dystroglycanopathy with two novel POMT1 mutations in a Chinese boy with developmental delay and muscular dystrophy

作者：Yeow Kuan Chong^a ; Louis Che Kwan Ma^b ; Kit Lin Lo^c ; Clary Ka Lai Lee^d ; Chloe Miu Mak^a ; Amanda Nim Chi Kan^e ; Ching Wan Lam^f ; ^{ching-wanlam@pathology.hku.hk" class="auth_mail}

关键词：Dystroglycans ; Protein-O-mannosyltransferase ; Muscular dystrophies

刊名：European Journal of Paediatric Neurology

出版年：July 2014

7.Hypoglycosylation of dystroglycan due to T192M mutation: A molecular insight behind the fact

作者：Simanti Bhattacharya ; Amit Das ; Semanti Ghosh ; Rakhi Dasgupta ; Angshuman Bagchi

关键词：MD ; muscular dystrophy ; DG ; dystroglycan ; MDDGC9 ; muscular dystrophy dystroglycanopathy of limb girdle ; type C ; OMIM ; online mendelian inheritance in man ; 伪-DG ; alpha dystroglycan ; 尾-DG ; beta dystroglycan ; DGC ; dystrophin dystroglycan complex ; ECM ; extracellular matrix ; LARGE ; like-acetylglucosaminyltransferase ; LG 4&ndash ; 5 domain ; laminin G like domain 4 and 5 ; PDB ; protein data bank ; BLAST ; basic local alignment search tool ; WT ; wild type ; MT ; mutant

刊名：Gene

出版年：1 March, 2014

8.P88 - 2855: Deficient alpha-dystroglycan presenting with rhabdomyolysis

作者：A. Kuster ; G. Caillaux ; F. Leturcq ; N. Romero

刊名：European Journal of Paediatric Neurology

出版年：2015

9.Biochemical and biophysical changes underlie the mechanisms of basement membrane disruptions in a mouse model of dystroglycanopathy

作者：Peng Zhang^a ; Yuan Yang^a ; ^b ; Joseph Candiello^c ; Trista L. Thorn^a ; Noel Gray^a ; Willi M. Halfter^d ; Huaiyu Hu^a ; ^{huh@upstate.edu}

关键词：Basement membrane ; Dystroglycanopathy ; Retina ; Laminin ; Extracellular matrix ; POMGnT1

刊名：Matrix Biology

出版年：2013

10.Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy

作者：Amy C. Yang ; Bobby G. Ng ; Steven A. Moore ; Jeffrey Rush ; Charles J. Waechter ; Kimiyo M. Raymond ; Tobias Willer ; Kevin P. Campbell ; Hudson H. Freeze ; Lakshmi Mehta

关键词：CDG ; congenital disorder of glycosylation ; DPM ; dolichol-P-mannose synthase ; DLO ; dolichol-linked oligosaccharides ; ER ; endoplasmic reticulum ; CK ; creatine kinase ; MRI ; magnetic resonance imaging ; EEG ; electroencephalogram ; CGH ; comparative genomic hybrid

刊名：Molecular Genetics and Metabolism

出版年：2013

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