-
1
-
-
0028232215
-
Congenital muscular dystrophy with merosin deficiency
-
ToméFM, Evangelista T, Leclerc A et al. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci III 1994: 317 (4): 351-357.
-
(1994)
C R Acad Sci III
, vol.317
, Issue.4
, pp. 351-357
-
-
Tomé, F.M.1
Evangelista, T.2
Leclerc, A.3
-
2
-
-
0030022392
-
Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy
-
Mostacciuolo ML, Miorin M, Martinello F et al. Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy. Hum Genet 1991: 97 (3): 277-279.
-
(1991)
Hum Genet
, vol.97
, Issue.3
, pp. 277-279
-
-
Mostacciuolo, M.L.1
Miorin, M.2
Martinello, F.3
-
4
-
-
33845942225
-
The congenital muscular dystrophies: Recent advances and molecular insights
-
Mendell JR, BouéDR, Martin PT. The congenital muscular dystrophies: Recent advances and molecular insights. Pediatr Dev Pathol 2006: 9 (6): 427-443.
-
(2006)
Pediatr Dev Pathol
, vol.9
, Issue.6
, pp. 427-443
-
-
Mendell, J.R.1
Boué, D.R.2
Martin, P.T.3
-
5
-
-
0028980027
-
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy
-
Helbling-Leclerc A, Zhang X, Topaloglu H et al. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet 1995: 11 (2): 216-218.
-
(1995)
Nat Genet
, vol.11
, Issue.2
, pp. 216-218
-
-
Helbling-Leclerc, A.1
Zhang, X.2
Topaloglu, H.3
-
6
-
-
0029861622
-
Structure of the human laminin alpha2-chain gene (LAMA2), which is affected in congenital muscular dystrophy
-
Zhang X, Vuolteenaho R, Tryggvason K. Structure of the human laminin alpha2-chain gene (LAMA2), which is affected in congenital muscular dystrophy. J Biol Chem 1999: 271: 27664-27669.
-
(1999)
J Biol Chem
, vol.271
, pp. 27664-27669
-
-
Zhang, X.1
Vuolteenaho, R.2
Tryggvason, K.3
-
8
-
-
0023970247
-
Merosin, a protein specific for basement membranes of Schwann cells, striated muscle, and trophoblast, is expressed late in nerve and muscle development
-
Leivo I, Engvall E. Merosin, a protein specific for basement membranes of Schwann cells, striated muscle, and trophoblast, is expressed late in nerve and muscle development. Proc Natl Acad Sci U S A 1988: 85: 1544-1548.
-
(1988)
Proc Natl Acad Sci U S A
, vol.85
, pp. 1544-1548
-
-
Leivo, I.1
Engvall, E.2
-
9
-
-
4444234437
-
The congenital muscular dystrophies in 2004: A century of exciting progress
-
Muntoni F, Voit T. The congenital muscular dystrophies in 2004: A century of exciting progress. Neuromuscul Disord 2004: 14 (10): 635-649.
-
(2004)
Neuromuscul Disord
, vol.14
, Issue.10
, pp. 635-649
-
-
Muntoni, F.1
Voit, T.2
-
10
-
-
32244440192
-
Dystroglycan: From biosynthesis to pathogenesis of human disease
-
Barresi R, Campbell KP. Dystroglycan: From biosynthesis to pathogenesis of human disease. J Cell Sci 2006: 119 (Pt 2): 199-207.
-
(2006)
J Cell Sci
, vol.119
, Issue.PART 2
, pp. 199-207
-
-
Barresi, R.1
Campbell, K.P.2
-
11
-
-
0031594947
-
Laminin alpha2 muscular dystrophy: Genotype/phenotype studies of 22 patients
-
Pegoraro E, Marks H, Garcia CA et al. Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients. Neurology 1998: 51 (1): 101-110.
-
(1998)
Neurology
, vol.51
, Issue.1
, pp. 101-110
-
-
Pegoraro, E.1
Marks, H.2
Garcia, C.A.3
-
12
-
-
0035030357
-
Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy
-
Hayashi YK, Tezak Z, Momoi T et al. Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy. Neuromuscul Disord 2001: 11 (4): 350-359.
-
(2001)
Neuromuscul Disord
, vol.11
, Issue.4
, pp. 350-359
-
-
Hayashi, Y.K.1
Tezak, Z.2
Momoi, T.3
-
13
-
-
0036227621
-
Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin)
-
Allamand V, Guicheney P. Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin). Eur J Hum Genet 2002: 10 (2): 91-94.
-
(2002)
Eur J Hum Genet
, vol.10
, Issue.2
, pp. 91-94
-
-
Allamand, V.1
Guicheney, P.2
-
14
-
-
26444454956
-
LAMA2 gene analysis in congenital muscular dystrophy: New mutations, prenatal diagnosis, and founder effect
-
di Blasi C, Piga D, Brioschi P et al. LAMA2 gene analysis in congenital muscular dystrophy: New mutations, prenatal diagnosis, and founder effect. Arch Neurol 2005: 62 (10): 1582-1586.
-
(2005)
Arch Neurol
, vol.62
, Issue.10
, pp. 1582-1586
-
-
di Blasi, C.1
Piga, D.2
Brioschi, P.3
-
15
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1998: 16 (3): 1215.
-
(1998)
Nucleic Acids Res
, vol.16
, Issue.3
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
16
-
-
0023651307
-
RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression
-
Shapiro MB, Senapathy P. RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression. Nucleic Acids Res 1987: 15 (17): 7155-7174.
-
(1987)
Nucleic Acids Res
, vol.15
, Issue.17
, pp. 7155-7174
-
-
Shapiro, M.B.1
Senapathy, P.2
-
17
-
-
0031574072
-
The CLUSTAL_X windows interface: Flexible strategies for multiple sequence alignment aided by quality analysis tools
-
Thompson JD, Gibson TJ, Plewniak F et al. The CLUSTAL_X windows interface: Flexible strategies for multiple sequence alignment aided by quality analysis tools. Nucleic Acids Res 1997: 25 (24): 4876-4882.
-
(1997)
Nucleic Acids Res
, vol.25
, Issue.24
, pp. 4876-4882
-
-
Thompson, J.D.1
Gibson, T.J.2
Plewniak, F.3
-
18
-
-
0037269243
-
Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency
-
Tezak Z, Prandini P, Boscaro M et al. Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency. Hum Mutat 2003: 21 (2): 103-111.
-
(2003)
Hum Mutat
, vol.21
, Issue.2
, pp. 103-111
-
-
Tezak, Z.1
Prandini, P.2
Boscaro, M.3
-
19
-
-
37549034298
-
Local dystrophin restoration with antisense oligonucleotide PRO051
-
van Deutekom JC, Janson AA, Ginjaar IB et al. Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med 2007: 357: 2677-2686.
-
(2007)
N Engl J Med
, vol.357
, pp. 2677-2686
-
-
van Deutekom, J.C.1
Janson, A.A.2
Ginjaar, I.B.3
-
20
-
-
39449127401
-
Drug-induced readthrough of premature stop codons leads to the stabilization of laminin α2 chain mRNA in CMD myotubes
-
Allamand V, Bidou L, Arakawa M et al. Drug-induced readthrough of premature stop codons leads to the stabilization of laminin α2 chain mRNA in CMD myotubes. J Gene Med 2008: 10: 217-224.
-
(2008)
J Gene Med
, vol.10
, pp. 217-224
-
-
Allamand, V.1
Bidou, L.2
Arakawa, M.3
-
21
-
-
36148940974
-
U7 snRNA-mediated correction of aberrant splicing caused by activation of cryptic splice sites
-
Uchikawa H, Fujii K, Kohno Y et al. U7 snRNA-mediated correction of aberrant splicing caused by activation of cryptic splice sites. J Hum Genet 2007: 52: 891-897.
-
(2007)
J Hum Genet
, vol.52
, pp. 891-897
-
-
Uchikawa, H.1
Fujii, K.2
Kohno, Y.3
-
22
-
-
44449085738
-
Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy
-
Oliveira J, Soares-Silva I, Fokkema I et al. Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy. J Hum Genet 2008: 53: 565-572.
-
(2008)
J Hum Genet
, vol.53
, pp. 565-572
-
-
Oliveira, J.1
Soares-Silva, I.2
Fokkema, I.3
-
23
-
-
0033987736
-
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
-
den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion. Hum Mutat 2000: 15: 7-12.
-
(2000)
Hum Mutat
, vol.15
, pp. 7-12
-
-
den Dunnen, J.T.1
Antonarakis, S.E.2
|