Literature DB >> 19901254

Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy.

S Messina1, G Tortorella, D Concolino, M Spanò, A D'Amico, C Bruno, F M Santorelli, E Mercuri, E Bertini.   

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Year:  2009        PMID： 19901254     DOI： 10.1212/WNL.0b013e3181c0d47a

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


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  14 in total

1.  Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?

Authors:  Andrea Poretti; Martin Häusler; Arpad von Moers; Bastian Baumgartner; Klaus Zerres; Andrea Klein; Chiara Aiello; Francesca Moro; Ginevra Zanni; Filippo M Santorelli; Thierry A G M Huisman; Joachim Weis; Enza Maria Valente; Enrico Bertini; Eugen Boltshauser
Journal:  Cerebellum       Date:  2014-02       Impact factor: 3.847

2.  Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.

Authors:  Mariska Davids; Minal Menezes; Yiran Guo; Scott D McLean; Hakon Hakonarson; Felicity Collins; Lisa Worgan; Charles J Billington; Irina Maric; Rebecca Okashah Littlejohn; Tito Onyekweli; David R Adams; Cynthia J Tifft; William A Gahl; Lynne A Wolfe; John Christodoulou; May Christine V Malicdan
Journal:  Mol Genet Metab       Date:  2020-02-10       Impact factor: 4.797

3.  Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations.

Authors:  Alya R Raphael; Julien Couthouis; Sarada Sakamuri; Carly Siskind; Hannes Vogel; John W Day; Aaron D Gitler
Journal:  Brain Res       Date:  2014-04-26       Impact factor: 3.252

4.  Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.

Authors:  Sandrine Vuillaumier-Barrot; Céline Bouchet-Séraphin; Malika Chelbi; Louise Devisme; Samuel Quentin; Steven Gazal; Annie Laquerrière; Catherine Fallet-Bianco; Philippe Loget; Sylvie Odent; Dominique Carles; Anne Bazin; Jacqueline Aziza; Alix Clemenson; Fabien Guimiot; Maryse Bonnière; Sophie Monnot; Christine Bole-Feysot; Jean-Pierre Bernard; Laurence Loeuillet; Marie Gonzales; Koryna Socha; Bernard Grandchamp; Tania Attié-Bitach; Férechté Encha-Razavi; Nathalie Seta
Journal:  Am J Hum Genet       Date:  2012-12-07       Impact factor: 11.025

Review 5.  Congenital muscular dystrophies: a brief review.

Authors:  Enrico Bertini; Adele D'Amico; Francesca Gualandi; Stefania Petrini
Journal:  Semin Pediatr Neurol       Date:  2011-12       Impact factor: 1.636

6.  Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency.

Authors:  M Pane; S Messina; G Vasco; A R Foley; L Morandi; E Pegoraro; T Mongini; A D'Amico; F Bianco; M E Lombardo; R Scalise; C Bruno; A Berardinelli; A Pini; I Moroni; M Mora; A Toscano; M Moggio; G Comi; F M Santorelli; E Bertini; F Muntoni; E Mercuri
Journal:  Neuromuscul Disord       Date:  2012-06-22       Impact factor: 4.296

7.  An immunological analysis of dystroglycan subunits: lessons learned from a small cohort of non-congenital dystrophic patients.

Authors:  Ernesto Pavoni; Francesca Sciandra; Giorgio Tasca; Roberta Tittarelli; Manuela Bozzi; Bruno Giardina; Enzo Ricci; Andrea Brancaccio
Journal:  Open Neurol J       Date:  2011-10-20

8.  Which aortic clamp strategy is better to reduce postoperative stroke and death: Single center report and a meta-analysis.

Authors:  Liyu Chen; Xiumeng Hua; Jiangping Song; Liqing Wang
Journal:  Medicine (Baltimore)       Date:  2018-03       Impact factor: 1.889

9.  Diagnostic approach to the congenital muscular dystrophies.

Authors:  Carsten G Bönnemann; Ching H Wang; Susana Quijano-Roy; Nicolas Deconinck; Enrico Bertini; Ana Ferreiro; Francesco Muntoni; Caroline Sewry; Christophe Béroud; Katherine D Mathews; Steven A Moore; Jonathan Bellini; Anne Rutkowski; Kathryn N North
Journal:  Neuromuscul Disord       Date:  2014-01-09       Impact factor: 4.296

10.  Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

Authors:  Keren J Carss; Elizabeth Stevens; A Reghan Foley; Sebahattin Cirak; Moniek Riemersma; Silvia Torelli; Alexander Hoischen; Tobias Willer; Monique van Scherpenzeel; Steven A Moore; Sonia Messina; Enrico Bertini; Carsten G Bönnemann; Jose E Abdenur; Carla M Grosmann; Akanchha Kesari; Jaya Punetha; Ros Quinlivan; Leigh B Waddell; Helen K Young; Elizabeth Wraige; Shu Yau; Lina Brodd; Lucy Feng; Caroline Sewry; Daniel G MacArthur; Kathryn N North; Eric Hoffman; Derek L Stemple; Matthew E Hurles; Hans van Bokhoven; Kevin P Campbell; Dirk J Lefeber; Yung-Yao Lin; Francesco Muntoni
Journal:  Am J Hum Genet       Date:  2013-06-13       Impact factor: 11.025
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