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

Autor: Michel Fardeau, Shari Fallet, Silvia Torelli, Norma B. Romero, C Pollitt, Gillian Storey, Caroline Sewry, Paola Prandini, Rumaisa Bashir, Thomas Voit, Derek J. Blake, Louise V.B. Anderson, Kate Bushby, Susan C. Brown, Volker Straub, Y Yuva, Isabelle Richard, Francesco Muntoni, Ralf Herrmann, Matthew A. Benson, Jean-Marc Burgunder, Martin Brockington

Publikováno v: Brockington, Martin; Yuva, Yeliz; Prandini, Paola; Brown, Susan C.; Torelli, Silvia; Benson, Matthew A.; Herrmann, Ralf; Anderson, Louise V.B.; Bashir, Rumaisa; Burgunder, Jean-Marc; Fallet, Shari; Romero, Norma; Fardeau, Michel; Straub, Volker; Storey, Gillian; Pollitt, Christine; Richard, Isabelle; Sewry, Caroline A.; Bushby, Kate; Voit, Thomas; ... (2001). Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Human molecular genetics, 10(25), pp. 2851-2859. Oxford University Press 10.1093/hmg/10.25.2851

The limb girdle and congenital muscular dystrophies (LGMD and CMD) are characterized by skeletal muscle weakness and dystrophic muscle changes. The onset of symptoms in CMD is within the first few months of life, whereas in LGMD they can occur in lat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8637abdd8a7da6e9a9ecb905ca82f74c
http://doc.rero.ch/record/297949/files/dde309.pdf

How I solved my PLUS-SIZE dilemma.

Autor: Annabel Rivkin

Publikováno v: Mail on Sunday. 5/23/2010, p38. 3p.

'Theirs Not To Reason Why' : Horsing the British Army 1875-1925

Autor: Graham Winton

Nominated for the Royal Historical Society Whitfield Book Prize 2013Nominated for the NYMAS Arthur Goodzeit Book Award 2013Nominated for the SAHR Templer Medal 2013This book provides the first comprehensive study of the British Army's horse services

FOOTBALLERS STAND BY NURSES.

Publikováno v: Nursing Standard; 5/16/2007, Vol. 21 Issue 36, p5-5, 1/3p

British Embassies : Their Diplomatic and Architectural History

Autor: James Stourton

A unique and glamorous book about British Imperial and post-Imperial architecture and a lively and evocative read for anyone interested in the international projection of British power and culture. British Embassies have a special role in our history