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在“Elsevier电子期刊”中，命中：65条，耗时：小于0.01 秒

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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.Gallus gallus orthologous to human alpha-dystroglycanopathies candidate genes: Gene expression and characterization during chicken embryogenesis

作者：Adriana Izquierdo-Lahuerta^a ; ^{adriana.izquierdo@urjc.es" class="auth_mail" title="E-mail the corresponding author} ; Oscar de Luis^a ; Francisco Gó ; mez-Esquer^b ; Jesú ; s Cruces^c ; Antonio Coloma^a

关键词：POMT1 ; Dystroglycanopathies ; Chicken ; Walker-Warburg syndrome

刊名：Biochemical and Biophysical Research Communications

出版年：2016

3.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

4.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

5.212th ENMC International Workshop:: Animal models of congenital muscular dystrophies, Naarden, The Netherlands, 29-31 May 2015

作者：M. Saunier^a ; C.G. Bö ; nnemann^b ; ¹ ; M. Durbeej^c ; ¹ ; V. Allamand^a ; ¹ ; ^{v.allamand@institut-myologie.org" class="auth_mail" title="E-mail the corresponding author} ; on behalf of the CMD Animal Model ConsortiumValé ; rie Allamand^d ; Paolo Bonaldo^e ; Carsten Bö ; nnemann^f ; Susan Brown^g ; Dean Burkin^h ; Kevin P. Campbellⁱ ; Madeleine Durbeej-Hjalt^j ; Mahasweta Girgenrath^k ; Yoram Nevo^l ; Markus Ruegg^m ; Margot Saunierⁿ ; Tatsushi Toda^o ; Raffaella Willmann^p

刊名：Neuromuscular Disorders

出版年：2016

6.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

7.Molecular diagnosis of congenital muscular dystrophies with defective glycosylation of alpha-dystroglycan using next-generation sequencing technology

作者：Byung Chan Lim^a ; ¹ ; Seungbok Lee^b ; ^c ; ¹ ; Jong-Yeon Shin^b ; Hee Hwang^a ; Ki Joong Kim^a ; Yong Seung Hwang^a ; Jeong-Sun Seo^b ; ^c ; ^d ; ^f ; Jong-Il Kim^b ; ^c ; ^e ; ^f ; ^{jongil@snu.ac.kr} ; Jong Hee Chae^a ; ^{chaeped1@snu.ac.kr}

关键词：Targeted resequencing ; Congenital muscular dystrophy ; Alpha-dystroglycan

刊名：Neuromuscular Disorders

出版年：2013

8.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

9.Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations

作者：Patricia Hafner^a ; ^b ; ¹ ; Ulrike Bonati^a ; ^b ; ¹ ; ^{ulrike.bonati@ukbb.ch" class="auth_mail} ; Arne Fischmann^c ; Jacques Schneider^d ; Stephan Frank^e ; Deborah J. Morris-Rosendahl^f ; Anamaria Dumea^g ; Karl Heinimann^g ; Dirk Fischer^a ; ^b ; ^{dirk.fischer@ukbb.ch" class="auth_mail}

关键词：CMP ; POMT1 ; POMT2 ; Alpha-dystroglycanopathies ; Quantitativ muscle MRI

刊名：Neuromuscular Disorders

出版年：April, 2014

10.Limb-girdle muscular dystrophy type 2I is not rare in Taiwan

作者：Wen-Chen Liang ; Yukiko K. Hayashi ; Megumu Ogawa ; Chien-Hua Wang ; Wan-Ting Huang ; Ichizo Nishino ; Yuh-Jyh Jong

关键词：Alpha-dystroglycan ; Alpha-dystroglycanopathy ; Limb-girdle muscular dystrophy type 2I ; FKRP ; Dilated cardiomyopathy ; Glycosylation defect ; Laminin binding ; Muscle imaging

刊名：Neuromuscular Disorders

出版年：2013

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