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114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE). (Articolo in rivista)
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- 114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE). (Articolo in rivista) (literal)
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- 2003-01-01T00:00:00+01:00 (literal)
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Muntoni F, Valero de Bernabe B, Bittner R, Blake D, van Bokhoven H, Brockington M, Brown S, Bushby K, Campbell KP, Fiszman M, Gruenewald S, Merlini L, Quijano-Roy S, Romero N, Sabatelli P, Sewry CA, Straub V, Talim B, Topaloglu H, Voit T, et all. (2003)
114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE).
in Neuromuscular disorders
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- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
- Muntoni F, Valero de Bernabe B, Bittner R, Blake D, van Bokhoven H, Brockington M, Brown S, Bushby K, Campbell KP, Fiszman M, Gruenewald S, Merlini L, Quijano-Roy S, Romero N, Sabatelli P, Sewry CA, Straub V, Talim B, Topaloglu H, Voit T, et all. (literal)
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- Titolo
- 114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE). (literal)
- Abstract
- The ENMC Consortium on Congenital muscular dystrophy
(CMD) held its 8th meeting in Naarden during
the weekend of the 17–19 January 2003. It was attended
by 25 participants from nine countries, including Austria,
Denmark, France, Germany, Italy, The Netherlands,
Turkey, UK, and the USA.
The present meeting focused on a group of syndromes
characterized by a deficiency in proteins with either a
demonstrated or putative enzymatic activity (glycosyltransferases).
Five of these conditions have been described
so far, of which four affect the human and cause different
forms of CMD (Walker–Warburg syndrome, (WWS);
Fukuyama CMD, (FCMD); muscle eye brain disease,
(MEB); and CMD type 1C, (MDC1C)), and a spontaneously
occurring mouse mutant (myd mice)
All these five disorders display reduced or absent
expression of a-dystroglycan, a highly glycosylated molecule,
on immunocytochemistry and Western blot suggesting
that the primary defect responsible for each of these
disorders may play a role in the processing of a-dystroglycan.
In addition, a number of other CMD syndromes in
which the primary defect is unknown are also characterized
by an abnormal expression of a-dystroglycan, suggesting
that abnormal processing of a-dystroglycan plays a
significant role in the pathogenesis of a number of CMD
syndromes.
The first part of the meeting focused on organization of
the extracellular matrix, and the role of a-dystroglycan and
its binding partners in muscle, while the second part was
devoted to syndromes in which abnormal processing or
expression of a-dystroglycan has been documented. Sessions were also devoted to pathogenesis of
neuronal migration disorders and therapeutic approaches
using a novel gene therapy strategy.
(literal)
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