98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE26-28th October, 2001, Naarden, The Netherlands

Neuromuscular Disorders

Volumn 12, Issue 9, 2002, Pages 889-896

  Muntoni, F ^b   Bertini, E ^b   Bonnemann C ^c   Brockington, M ^a   Brown, S ^a   Bushby, K ^d   Fiszman, M ^e   Korner C ^f   Mercuri, E ^a   Merlini, L ^g   Hewitt, J ^h   Quijano Roy, S ⁱ   Romero, N ^e   Squarzoni, S ^j   Sewry, C A ^a,k   Straub, V ^l   Topaloglu, H ^k   Haliloglu, G ^k   Voit, T ^l   Wewer, U ^m   Guicheney, P ^e   more..

^a HAMMERSMITH HOSPITAL   (United Kingdom)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^d Institute of Human Genetics   (United Kingdom)

^e INSERM   (France)

^f Biochemistry Department   (Germany)

^g RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

^h UNIVERSITY OF NOTTINGHAM   (United Kingdom)

ⁱ RAYMOND POINCARÉ HOSPITAL   (France)

^j CNR   (Italy)

^k Department of Histopathology ^*  (Turkey)

^l UNIVERSITY OF DUISBURG ESSEN   (Germany)

^m UNIVERSITY OF COPENHAGEN   (Denmark)

more..

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 6; GLYCOSYLTRANSFERASE; LAMININ; MEROSIN;

CLINICAL FEATURE; CONFERENCE PAPER; EXON; FACIES; GENE MUTATION; HUMAN; LINKAGE ANALYSIS; MENTAL DEFICIENCY; MUSCLE BIOPSY; MUSCLE DISEASE; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; RESPIRATORY FAILURE; SKIN BIOPSY; WORKSHOP;

DISEASE MODELS, ANIMAL; EYE DISEASES; GLYCOSYLTRANSFERASES; HUMANS; IMAGE PROCESSING, COMPUTER-ASSISTED; MENTAL DISORDERS; MUSCULAR DYSTROPHIES;

EID: 0036837628     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(02)00068-8     Document Type: Conference Paper

References (25)

1. Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine on chromosome 1p35-36
2. Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome
3. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome
4. Rigid spine syndrome
5. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI
6. Type VI collagen. Studies on its localization, structure, and biosynthetic form with monoclonal antibodies
7. Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: a novel entity?
8. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin (2 deficiency and abnormal glycosylation of α-dystroglycan
9. Mutations in the fukutin related-protein gene (FKRP) identifies limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
10. Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci
11. Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42
12. Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy
13. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1
14. Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome
15. Merosin-positive congenital muscular dystrophy with transient brain dysmyelination, pontocerebellar hypoplasia and mental retardation
16. First International Workshop on CDGS. Leuven, Belgium, November 12-13, 1999. Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG
17. Congenital disorders of glycosylation: genetic model systems lead the way
18. Clinical presentation of the first case of CDG type IId
19. Deficiency of UDP-galactose:N-acetylglucosamine β-1,4-galactosyltransferase leads to congenital disorders of glycosylation-IId (CDG-IId)
20. Electrotransfer of naked DNA in the skeletal muscles of animal models of muscular dystrophies
21. An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy
22. Tetranectin is a novel marker for myogenesis during embryonic development, muscle regeneration, and muscle cell differentiation in vitro
23. Mice with a targeted deletion of the tetranectin gene exhibit a spinal deformity
24. Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse