(Q48225211)

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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).

scientific article published in September 2003

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6 November 2019

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) (English)

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6 November 2019

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congenital muscular dystrophy

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7

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6 November 2019

Pascale Guicheney

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6 November 2019

Hans van Bokhoven

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6 November 2019

Kevin P Campbell

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6 November 2019

Luciano Merlini

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6 November 2019

Peter Yurchenco

21

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6 November 2019

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F Muntoni

1

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6 November 2019

B Valero de Bernabe

2

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6 November 2019

R Bittner

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6 November 2019

D Blake

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6 November 2019

M Brockington

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6 November 2019

K Bushby

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6 November 2019

M Fiszman

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6 November 2019

S Gruenewald

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6 November 2019

S Quijano-Roy

13

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6 November 2019

N Romero

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6 November 2019

P Sabatelli

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6 November 2019

C A Sewry

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6 November 2019

V Straub

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6 November 2019

B Talim

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6 November 2019

H Topaloglu

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6 November 2019

T Voit

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6 November 2019

J A Urtizberea

22

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6 November 2019

U M Wewer

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6 November 2019

publication date

1 September 2003

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6 November 2019

Neuromuscular Disorders

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6 November 2019

13

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6 November 2019

7-8

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6 November 2019

579-588

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6 November 2019

Dystrophin-glycoprotein complex: post-translational processing and dystroglycan function.

1 reference

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Defective glycosylation in muscular dystrophy

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7 January 2021

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Contributions of the LG modules and furin processing to laminin-2 functions

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Dystroglycan is essential for early embryonic development: disruption of Reichert's membrane in Dag1-null mice

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Disruption of DAG1 in differentiated skeletal muscle reveals a role for dystroglycan in muscle regeneration.

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Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy.

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Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies

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Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle - eye - brain disorders

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Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

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Smooth, rough and upside-down neocortical development

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7 January 2021

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Modes of neuronal migration in the developing cerebral cortex

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Merosin-positive congenital muscular dystrophy with transient brain dysmyelination, pontocerebellar hypoplasia and mental retardation

1 reference

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7 January 2021

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Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan

1 reference

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

1 reference

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FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts

1 reference

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Functional requirements for fukutin-related protein in the Golgi apparatus

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

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Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42.

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Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular-eye-brain loci: report of three siblings

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Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome.

1 reference

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7 January 2021

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Identifiers

10.1016/S0960-8966(03)00072-5

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6 November 2019

PubMed publication ID

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6 November 2019

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