Literature DB >> 25770200

Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype.

Diana X Bharucha-Goebel1, Erin Neil1, Sandra Donkervoort1, Jahannaz Dastgir1, Edythe Wiggs1, Thomas L Winder1, Steven A Moore1, Susan T Iannaccone1, Carsten G Bönnemann2.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2015        PMID： 25770200      PMCID： PMC4395885          DOI： 10.1212/WNL.0000000000001440

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


× No keyword cloud information.
  6 in total

1.  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

Review 2.  Dissecting the molecular basis of the role of the O-mannosylation pathway in disease: α-dystroglycan and forms of muscular dystrophy.

Authors:  David Live; Lance Wells; Geert-Jan Boons
Journal:  Chembiochem       Date:  2013-11-07       Impact factor: 3.164

Review 3.  Dystroglycanopathies: coming into focus.

Authors:  Caroline Godfrey; A Reghan Foley; Emma Clement; Francesco Muntoni
Journal:  Curr Opin Genet Dev       Date:  2011-03-11       Impact factor: 5.578

4.  Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.

Authors:  E Mercuri; S Messina; C Bruno; M Mora; E Pegoraro; G P Comi; A D'Amico; C Aiello; R Biancheri; A Berardinelli; P Boffi; D Cassandrini; A Laverda; M Moggio; L Morandi; I Moroni; M Pane; R Pezzani; A Pichiecchio; A Pini; C Minetti; T Mongini; E Mottarelli; E Ricci; A Ruggieri; S Saredi; C Scuderi; A Tessa; A Toscano; G Tortorella; C P Trevisan; C Uggetti; G Vasco; F M Santorelli; E Bertini
Journal:  Neurology       Date:  2009-03-18       Impact factor: 9.910

5.  SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function.

Authors:  Takako Yoshida-Moriguchi; Tobias Willer; Mary E Anderson; David Venzke; Tamieka Whyte; Francesco Muntoni; Hane Lee; Stanley F Nelson; Liping Yu; Kevin P Campbell
Journal:  Science       Date:  2013-08-08       Impact factor: 47.728

6.  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
  6 in total
  6 in total

1.  GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

Authors:  Braden S Jensen; Tobias Willer; Dimah N Saade; Mary O Cox; Tahseen Mozaffar; Mena Scavina; Vikki A Stefans; Thomas L Winder; Kevin P Campbell; Steven A Moore; Katherine D Mathews
Journal:  Hum Mutat       Date:  2015-09-23       Impact factor: 4.878

2.  Mutations in GMPPB Presenting with Pseudometabolic Myopathy.

Authors:  Chiara Panicucci; Chiara Fiorillo; Francesca Moro; Guja Astrea; Giacomo Brisca; Federica Trucco; Marina Pedemonte; Paola Lanteri; Lucia Sciarretta; Carlo Minetti; Filippo M Santorelli; Claudio Bruno
Journal:  JIMD Rep       Date:  2017-04-30

3.  B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.

Authors:  Reza Maroofian; Moniek Riemersma; Lucas T Jae; Narges Zhianabed; Marjolein H Willemsen; Willemijn M Wissink-Lindhout; Michèl A Willemsen; Arjan P M de Brouwer; Mohammad Yahya Vahidi Mehrjardi; Mahmoud Reza Ashrafi; Benno Kusters; Tjitske Kleefstra; Yalda Jamshidi; Mojila Nasseri; Rolph Pfundt; Thijn R Brummelkamp; Mohammad Reza Abbaszadegan; Dirk J Lefeber; Hans van Bokhoven
Journal:  Genome Med       Date:  2017-12-22       Impact factor: 11.117

4.  Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.

Authors:  Martin Krenn; Matthias Tomschik; Matias Wagner; Gudrun Zulehner; Rosa Weng; Jakob Rath; Sigrid Klotz; Ellen Gelpi; Gabriel Bsteh; Omar Keritam; Isabella Colonna; Chiara Paternostro; Fiona Jäger; Elisabeth Lindeck-Pozza; Stephan Iglseder; Susanne Grinzinger; Martina Schönfelder; Christina Hohenwarter; Manfred Freimüller; Norbert Embacher; Julia Wanschitz; Raffi Topakian; Ana Töpf; Volker Straub; Stefan Quasthoff; Fritz Zimprich; Wolfgang N Löscher; Hakan Cetin
Journal:  Eur J Neurol       Date:  2022-03-10       Impact factor: 6.288

5.  Clinical features of the myasthenic syndrome arising from mutations in GMPPB.

Authors:  Pedro M Rodríguez Cruz; Katsiaryna Belaya; Keivan Basiri; Maryam Sedghi; Maria Elena Farrugia; Janice L Holton; Wei Wei Liu; Susan Maxwell; Richard Petty; Timothy J Walls; Robin Kennett; Matthew Pitt; Anna Sarkozy; Matt Parton; Hanns Lochmüller; Francesco Muntoni; Jacqueline Palace; David Beeson
Journal:  J Neurol Neurosurg Psychiatry       Date:  2016-05-04       Impact factor: 10.154

Review 6.  Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review.

Authors:  LiuQing Sun; DingGuo Shen; Ting Xiong; Zhibin Zhou; Xianghui Lu; Fang Cui
Journal:  Bosn J Basic Med Sci       Date:  2020-05-01       Impact factor: 3.363
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.