Literature DB >> 19820980

Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients.

Frank Hanisch, Dörte Grimm, Stephan Zierz, Marcus Deschauer.   

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Year:  2009        PMID： 19820980     DOI： 10.1007/s00415-009-5349-2

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  15 in total

1.  FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients.

Authors:  M C Walter; J A Petersen; R Stucka; D Fischer; R Schröder; M Vorgerd; A Schroers; H Schreiber; C O Hanemann; U Knirsch; A Rosenbohm; A Huebner; N Barisic; R Horvath; S Komoly; P Reilich; W Müller-Felber; D Pongratz; J S Müller; E A Auerswald; H Lochmüller
Journal:  J Med Genet       Date:  2004-04       Impact factor: 6.318

2.  Limb-girdle muscular dystrophy in the United States.

Authors:  Steven A Moore; Christopher J Shilling; Steven Westra; Cheryl Wall; Matthew P Wicklund; Catherine Stolle; Charlotte A Brown; Daniel E Michele; Federica Piccolo; Thomas L Winder; Aaron Stence; Rita Barresi; Nick King; Wendy King; Julaine Florence; Kevin P Campbell; Gerald M Fenichel; Hansell H Stedman; John T Kissel; Robert C Griggs; Shree Pandya; Katherine D Mathews; Alan Pestronk; Carmen Serrano; Daniel Darvish; Jerry R Mendell
Journal:  J Neuropathol Exp Neurol       Date:  2006-10       Impact factor: 3.685

3.  Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation.

Authors:  T Müller; M Krasnianski; R Witthaut; M Deschauer; S Zierz
Journal:  Neuromuscul Disord       Date:  2005-05       Impact factor: 4.296

4.  Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

Authors:  M Brockington; Y Yuva; P Prandini; S C Brown; S Torelli; M A Benson; R Herrmann; L V Anderson; R Bashir; J M Burgunder; S Fallet; N Romero; M Fardeau; V Straub; G Storey; C Pollitt; I Richard; C A Sewry; K Bushby; T Voit; D J Blake; F Muntoni
Journal:  Hum Mol Genet       Date:  2001-12-01       Impact factor: 6.150

5.  Phenotypic spectrum associated with mutations in the fukutin-related protein gene.

Authors:  Eugenio Mercuri; Martin Brockington; Volker Straub; Susana Quijano-Roy; Yeliz Yuva; Ralf Herrmann; Susan C Brown; Silvia Torelli; Victor Dubowitz; Derek J Blake; Norma B Romero; Brigitte Estournet; Caroline A Sewry; Pascale Guicheney; Thomas Voit; Francesco Muntoni
Journal:  Ann Neurol       Date:  2003-04       Impact factor: 10.422

6.  Diagnostic evaluation of clinically normal subjects with chronic hyperCKemia.

Authors:  C Fernandez; A Maues de Paula; D Figarella-Branger; M Krahn; R Giorgi; B Chabrol; M-F Monfort; J Pouget; J-F Pellissier
Journal:  Neurology       Date:  2006-05-23       Impact factor: 9.910

7.  Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.

Authors:  Harriet P Lo; Sandra T Cooper; Frances J Evesson; Jane T Seto; Maria Chiotis; Valerie Tay; Alison G Compton; Anita G Cairns; Alistair Corbett; Daniel G MacArthur; Nan Yang; Katrina Reardon; Kathryn N North
Journal:  Neuromuscul Disord       Date:  2007-09-25       Impact factor: 4.296

8.  Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families.

Authors:  A J van der Kooi; W S Frankhuizen; P G Barth; C J Howeler; G W Padberg; F Spaans; A R Wintzen; J H J Wokke; G-J B van Ommen; M de Visser; E Bakker; H B Ginjaar
Journal:  Neurology       Date:  2007-06-12       Impact factor: 9.910

9.  Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I.

Authors:  Chiara A Boito; Paola Melacini; Andrea Vianello; Paola Prandini; Bruno F Gavassini; Alessia Bagattin; Gabriele Siciliano; Corrado Angelini; Elena Pegoraro
Journal:  Arch Neurol       Date:  2005-12

10.  LGMD2I in a North American population.

Authors:  Peter B Kang; Chris A Feener; Elicia Estrella; Marielle Thorne; Alexander J White; Basil T Darras; Anthony A Amato; Louis M Kunkel
Journal:  BMC Musculoskelet Disord       Date:  2007-11-24       Impact factor: 2.362
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  1 in total

1.  Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.

Authors:  Kristýna Stehlíková; Daniela Skálová; Jana Zídková; Lenka Mrázová; Petr Vondráček; Radim Mazanec; Stanislav Voháňka; Jana Haberlová; Markéta Hermanová; Josef Zámečník; Ondřej Souček; Hana Ošlejšková; Nina Dvořáčková; Pavla Solařová; Lenka Fajkusová
Journal:  BMC Neurol       Date:  2014-08-19       Impact factor: 2.474
  1 in total

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