Literature DB >> 23390185

Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene.

G Tasca1, F Moro, C Aiello, D Cassandrini, C Fiorillo, E Bertini, C Bruno, F M Santorelli, E Ricci.   

Abstract

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Year:  2013        PMID： 23390185     DOI： 10.1212/WNL.0b013e3182840cbc

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  9 in total

Review 1.  Limb-girdle muscular dystrophies - international collaborations for translational research.

Authors:  Rachel Thompson; Volker Straub
Journal:  Nat Rev Neurol       Date:  2016-04-01       Impact factor: 42.937

2.  Third International Workshop for Glycosylation Defects in Muscular Dystrophies, 18-19 April 2013, Charlotte, USA.

Authors:  Anthony Blaeser; Susan Sparks; Susan C Brown; Kevin Campbell; Qi Lu
Journal:  Brain Pathol       Date:  2014-03-03       Impact factor: 6.508

3.  ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.

Authors:  Francesca Magri; Irene Colombo; Roberto Del Bo; Stefano Previtali; Roberta Brusa; Patrizia Ciscato; Marina Scarlato; Dario Ronchi; Maria Grazia D'Angelo; Stefania Corti; Maurizio Moggio; Nereo Bresolin; Giacomo Pietro Comi
Journal:  BMC Neurol       Date:  2015-09-24       Impact factor: 2.474

4.  Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement.

Authors:  Ozge Ceyhan-Birsoy; Beril Talim; Lindsay C Swanson; Mert Karakaya; Michelle A Graff; Alan H Beggs; Haluk Topaloglu
Journal:  J Neuromuscul Dis       Date:  2015

Review 5.  Mammalian O-mannosylation pathway: glycan structures, enzymes, and protein substrates.

Authors:  Jeremy L Praissman; Lance Wells
Journal:  Biochemistry       Date:  2014-05-07       Impact factor: 3.162

6.  Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.

Authors:  Katherine Johnson; Marta Bertoli; Lauren Phillips; Ana Töpf; Peter Van den Bergh; John Vissing; Nanna Witting; Shahriar Nafissi; Shirin Jamal-Omidi; Anna Łusakowska; Anna Kostera-Pruszczyk; Anna Potulska-Chromik; Nicolas Deconinck; Carina Wallgren-Pettersson; Sonja Strang-Karlsson; Jaume Colomer; Kristl G Claeys; Willem De Ridder; Jonathan Baets; Maja von der Hagen; Roberto Fernández-Torrón; Miren Zulaica Ijurco; Juan Bautista Espinal Valencia; Andreas Hahn; Hacer Durmus; Tracey Willis; Liwen Xu; Elise Valkanas; Thomas E Mullen; Monkol Lek; Daniel G MacArthur; Volker Straub
Journal:  Skelet Muscle       Date:  2018-07-30       Impact factor: 4.912

Review 7.  The ties that bind: functional clusters in limb-girdle muscular dystrophy.

Authors:  Elisabeth R Barton; Christina A Pacak; Whitney L Stoppel; Peter B Kang
Journal:  Skelet Muscle       Date:  2020-07-29       Impact factor: 4.912

Review 8.  A Journey with LGMD: From Protein Abnormalities to Patient Impact.

Authors:  Dimitra G Georganopoulou; Vasilis G Moisiadis; Firhan A Malik; Ali Mohajer; Tanya M Dashevsky; Shirley T Wuu; Chih-Kao Hu
Journal:  Protein J       Date:  2021-06-10       Impact factor: 2.371

9.  Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.

Authors:  Giorgio Tasca; Adele D'Amico; Mauro Monforte; Aleksandra Nadaj-Pakleza; Marc Vialle; Fabiana Fattori; John Vissing; Enzo Ricci; Enrico Bertini
Journal:  Neuromuscul Disord       Date:  2015-07-17       Impact factor: 4.296
  9 in total

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