-
1
-
-
0023614271
-
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
-
Koenig, M. et al. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50, 509-517 (1987).
-
(1987)
Cell
, vol.50
, pp. 509-517
-
-
Koenig, M.1
-
2
-
-
0005933477
-
The limb-girdle muscular dystrophies
-
ed. Emery, A.E.H. Royal Society of Medicine Press, London
-
Bushby, K.M.D. The limb-girdle muscular dystrophies, in Diagnostic Criteria for Neuromuscular Disorders (ed. Emery, A.E.H.) 17-22 (Royal Society of Medicine Press, London, 1997).
-
(1997)
Diagnostic Criteria for Neuromuscular Disorders
, pp. 17-22
-
-
Bushby, K.M.D.1
-
3
-
-
0028877455
-
Muscular dystrophies: Diseases of the dystrophin-glycoprotein complex
-
Worton, R.G. Muscular dystrophies: diseases of the dystrophin-glycoprotein complex. Science 270, 755-756 (1995).
-
(1995)
Science
, vol.270
, pp. 755-756
-
-
Worton, R.G.1
-
4
-
-
0028883973
-
Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy
-
Noguchi, S. et al. Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy. Science 270, 819-822 (1995).
-
(1995)
Science
, vol.270
, pp. 819-822
-
-
Noguchi, S.1
-
5
-
-
0029319426
-
Primary adhalinopathy: A common cause of autosomal recessive muscular dystrophy of variable severity
-
Piccolo, F. et al. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nature Genet. 10, 243-245 (1995).
-
(1995)
Nature Genet.
, vol.10
, pp. 243-245
-
-
Piccolo, F.1
-
6
-
-
0028971219
-
β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
-
Bonnemann, C.G. et al. β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nature Genet. 11, 266-273 (1995).
-
(1995)
Nature Genet.
, vol.11
, pp. 266-273
-
-
Bonnemann, C.G.1
-
7
-
-
0028971221
-
β-sarcoglycan: Characterisation and role in limb-girdle muscular dystrophy linked to 4q12
-
Lim, L.E. et al. β-sarcoglycan: characterisation and role in limb-girdle muscular dystrophy linked to 4q12. Mature Genet. 11, 257-265 (1995).
-
(1995)
Mature Genet.
, vol.11
, pp. 257-265
-
-
Lim, L.E.1
-
8
-
-
0029816797
-
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ-sarcoglycan gene
-
Nigro, V. et al. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ-sarcoglycan gene. Nature Genet. 14, 195-198 (1996).
-
(1996)
Nature Genet.
, vol.14
, pp. 195-198
-
-
Nigro, V.1
-
9
-
-
0030951089
-
Primary adhalinopathy (-sarcoglycanopathy): Clinical, pathologic and genetic correlation in 20 patients with autosomal recessive muscular dystrophy
-
Eymard, B. et al. Primary adhalinopathy (-sarcoglycanopathy): clinical, pathologic and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. Neurol. 48, 1227-1234 (1997).
-
(1997)
Neurol.
, vol.48
, pp. 1227-1234
-
-
Eymard, B.1
-
10
-
-
0031920515
-
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
-
Minetti, C. et al. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nature Genet. 18, 365-368 (1998).
-
(1998)
Nature Genet.
, vol.18
, pp. 365-368
-
-
Minetti, C.1
-
11
-
-
0345582159
-
Caveolin-3 in muscular dystrophy
-
McNally, E.M. et al. Caveolin-3 in muscular dystrophy. Hum. Mol. Genet 7, 871-877 (1998).
-
(1998)
Hum. Mol. Genet
, vol.7
, pp. 871-877
-
-
McNally, E.M.1
-
12
-
-
0028905205
-
Mutations in the proteolytic enzyme, calpain 3, cause limb girdle muscular dystrophy type 2A
-
Richard, I. et al. Mutations in the proteolytic enzyme, calpain 3, cause limb girdle muscular dystrophy type 2A. Cell 81, 27-40 (1995).
-
(1995)
Cell
, vol.81
, pp. 27-40
-
-
Richard, I.1
-
13
-
-
0029963979
-
Juvenile limb-girdle muscular dystrophy: Clinical, histopathological and genetic data from a small community living in the Reunion Island
-
Fardeau, M. et al. (1996). Juvenile limb-girdle muscular dystrophy: clinical, histopathological and genetic data from a small community living in the Reunion Island. Brain 119, 295-308.
-
(1996)
Brain
, vol.119
, pp. 295-308
-
-
Fardeau, M.1
-
14
-
-
13344285357
-
Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence
-
Sorimachi, H. et al. Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence. J. Biol. Chem. 270, 31155-31162 (1995).
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 31155-31162
-
-
Sorimachi, H.1
-
15
-
-
0028326542
-
A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p
-
Bashir, R. et al. A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum. Mol. Genet. 3, 455-457 (1994).
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 455-457
-
-
Bashir, R.1
-
16
-
-
0029057637
-
Confirmation of the 2p locus for late-onset autosomal recessive limb-girdle muscular dystrophy and refinement of the candidate region
-
Passos-Bueno, M.R. et al. Confirmation of the 2p locus for late-onset autosomal recessive limb-girdle muscular dystrophy and refinement of the candidate region. Genomics 27, 192-195 (1995).
-
(1995)
Genomics
, vol.27
, pp. 192-195
-
-
Passos-Bueno, M.R.1
-
17
-
-
0030477874
-
The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy
-
Mahjneh, I. et al. The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy. Neuromusc. Disord. 6, 483-490 (1996).
-
(1996)
Neuromusc. Disord.
, vol.6
, pp. 483-490
-
-
Mahjneh, I.1
-
18
-
-
0028951204
-
Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14
-
Bejaoui, K. et al. Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14. Neurol. 45, 768-772 (1995).
-
(1995)
Neurol.
, vol.45
, pp. 768-772
-
-
Bejaoui, K.1
-
19
-
-
12644258539
-
Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy
-
Illarioshkin, S.N. et al. Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy. Brain 119, 1895-1909 (1996).
-
(1996)
Brain
, vol.119
, pp. 1895-1909
-
-
Illarioshkin, S.N.1
-
20
-
-
0029845713
-
Limb-girdle muscular dystrophy and Miyoshi myopathy in an Aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype
-
Weiler, T. et al. Limb-girdle muscular dystrophy and Miyoshi myopathy in an Aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. Am. J. Hum. Genet. 59, 872-878 (1996).
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 872-878
-
-
Weiler, T.1
-
21
-
-
0023718118
-
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
-
Monaco, A.P., Bertelson, C.J., Liechti-Gallati, S., Moser, H. & Kunkel, L.M. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 2, 90-95 (1988).
-
(1988)
Genomics
, vol.2
, pp. 90-95
-
-
Monaco, A.P.1
Bertelson, C.J.2
Liechti-Gallati, S.3
Moser, H.4
Kunkel, L.M.5
-
22
-
-
0029873710
-
Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p
-
Bashir, R. et al. Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p. Genomics 33, 46-52 (1996).
-
(1996)
Genomics
, vol.33
, pp. 46-52
-
-
Bashir, R.1
-
23
-
-
0032008693
-
Genetic fine mapping of the Miyoshi myopathy locus and exclusion of eight candidate genes
-
Bejaoui, K. et al. Genetic fine mapping of the Miyoshi myopathy locus and exclusion of eight candidate genes. Neurogenet. 1, 189-196 (1998).
-
(1998)
Neurogenet.
, vol.1
, pp. 189-196
-
-
Bejaoui, K.1
-
24
-
-
0031172187
-
Refined genetic location of the chromosome 2p-linked progressive muscular dystrophy gene
-
Illarioshkin, S.N. et al. Refined genetic location of the chromosome 2p-linked progressive muscular dystrophy gene. Genomics 42, 345-348 (1997).
-
(1997)
Genomics
, vol.42
, pp. 345-348
-
-
Illarioshkin, S.N.1
-
25
-
-
17444449419
-
Generation of a 3-Mb PAC contig spanning the Miyoshi Myopathy/ Limb-Girdle muscular dystrophy (MM/LGMD2B) locus on chromosome 2p13
-
Liu, J. et al. Generation of a 3-Mb PAC contig spanning the Miyoshi Myopathy/ Limb-Girdle muscular dystrophy (MM/LGMD2B) locus on chromosome 2p13. Genomics 49, 23-29 (1998).
-
(1998)
Genomics
, vol.49
, pp. 23-29
-
-
Liu, J.1
-
26
-
-
0027102414
-
A large inbred Palestinian family with two forms of muscular dystrophy
-
Mahjneh, I., Vanelli, G., Bushby, K. & Marconi, G. A large inbred Palestinian family with two forms of muscular dystrophy. Neuromusc. Disord. 2, 277-283 (1992).
-
(1992)
Neuromusc. Disord.
, vol.2
, pp. 277-283
-
-
Mahjneh, I.1
Vanelli, G.2
Bushby, K.3
Marconi, G.4
-
27
-
-
0028968790
-
Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus
-
Allamand, V. et al. Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus. Hum. Mol. Genet. 4, 459-463 (1995).
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 459-463
-
-
Allamand, V.1
-
28
-
-
0030972880
-
A nematode gene required for sperm vesicle fusion
-
Achanzar, W.E. & Ward, S. A nematode gene required for sperm vesicle fusion. J. Cell Sci. 110, 1073-1081 (1997).
-
(1997)
J. Cell Sci.
, vol.110
, pp. 1073-1081
-
-
Achanzar, W.E.1
Ward, S.2
-
29
-
-
0031943778
-
From dystrophinopathy to sarcoglycanopathy: Evolution of a concept of muscular dystrophy
-
Ozawa, E., Noguchi, S., Mizuno, Y., Hagiwara, Y. & Yoshida, M. From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. Muscle Nerve, 421-438 (1998).
-
(1998)
Muscle Nerve
, pp. 421-438
-
-
Ozawa, E.1
Noguchi, S.2
Mizuno, Y.3
Hagiwara, Y.4
Yoshida, M.5
-
30
-
-
15844401780
-
Expression of caveolin-3 in skeletal, cardiac and smooth muscle cells
-
Song, K.S. et al. Expression of caveolin-3 in skeletal, cardiac and smooth muscle cells. J. Biol. Chem. 271, 15160-15165 (1995).
-
(1995)
J. Biol. Chem.
, vol.271
, pp. 15160-15165
-
-
Song, K.S.1
-
31
-
-
0027985787
-
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
-
Bione, S. et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nature Genet 8, 323-327 (1994).
-
(1994)
Nature Genet
, vol.8
, pp. 323-327
-
-
Bione, S.1
-
32
-
-
0028070987
-
Vesicle fusion from yeast to man
-
Ferro-Novick, S. & Jahn, R. Vesicle fusion from yeast to man. Nature 370, 191-193 (1994).
-
(1994)
Nature
, vol.370
, pp. 191-193
-
-
Ferro-Novick, S.1
Jahn, R.2
-
33
-
-
0025276435
-
Viral and cellular membrane fusion proteins
-
White, J.M. Viral and cellular membrane fusion proteins. Annu. Rev. Physiol. 52, 675-697 (1990).
-
(1990)
Annu. Rev. Physiol.
, vol.52
, pp. 675-697
-
-
White, J.M.1
-
34
-
-
0032549708
-
SNAREpins: Minimal machinery for membrane fusion
-
Weber, T. et al. SNAREpins: minimal machinery for membrane fusion. Cell 92, 759-772 (1998).
-
(1998)
Cell
, vol.92
, pp. 759-772
-
-
Weber, T.1
-
36
-
-
0028814451
-
Phosphorylation of dystrophin: Effects on actin binding
-
Senter, L., Ceoldo, S., Petrusa, M.M. & Salviati, G. Phosphorylation of dystrophin: effects on actin binding. Biochem. Biophys. Res. Commun. 206, 57-63 (1995).
-
(1995)
Biochem. Biophys. Res. Commun.
, vol.206
, pp. 57-63
-
-
Senter, L.1
Ceoldo, S.2
Petrusa, M.M.3
Salviati, G.4
-
37
-
-
0025836092
-
Genetic counselling in facioscapulohumeral muscular dystrophy
-
Lunt, P.W. & Harper, P.S. Genetic counselling in facioscapulohumeral muscular dystrophy. J. Med. Genet. 28, 655-664 (1991).
-
(1991)
J. Med. Genet.
, vol.28
, pp. 655-664
-
-
Lunt, P.W.1
Harper, P.S.2
-
38
-
-
19144370503
-
Main clinical features of the three mapped autosomal recessive muscular dystrophies and estimated proportion of each form in 13 Brazilian families
-
Passos-Bueno, M.R. et al. Main clinical features of the three mapped autosomal recessive muscular dystrophies and estimated proportion of each form in 13 Brazilian families. J. Med. Genet. 33, 97-102 (1996).
-
(1996)
J. Med. Genet.
, vol.33
, pp. 97-102
-
-
Passos-Bueno, M.R.1
-
39
-
-
15444348850
-
A biochemical, genetic and clinical survey of autosomal recessive limb girdle muscular dystrophy in Turkey
-
Dincer, P. et al. A biochemical, genetic and clinical survey of autosomal recessive limb girdle muscular dystrophy in Turkey. Ann. Neurol. 42, 222-229 (1997).
-
(1997)
Ann. Neurol.
, vol.42
, pp. 222-229
-
-
Dincer, P.1
-
40
-
-
0030784953
-
Genetic epidemiology of muscular dystrophies resulting from sarcolgycan gene mutations
-
Fanin, M. et al. Genetic epidemiology of muscular dystrophies resulting from sarcolgycan gene mutations. J. Med. Genet. 34, 973-977 (1997).
-
(1997)
J. Med. Genet.
, vol.34
, pp. 973-977
-
-
Fanin, M.1
-
41
-
-
10544243791
-
A founder mutation in the γ-sarcoglycan gene of Gypsies possibly predating their migration out of India
-
Piccolo, F. et al. A founder mutation in the γ-sarcoglycan gene of Gypsies possibly predating their migration out of India. Hum. Mol. Genet. 5, 2019-2022 (1996).
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 2019-2022
-
-
Piccolo, F.1
-
42
-
-
0028231090
-
The 1993-94 Genethon human genetic linkage map
-
Gyapay, G. et al. The 1993-94 Genethon human genetic linkage map. Nature Genet. 7, 246-339 (1994).
-
(1994)
Nature Genet.
, vol.7
, pp. 246-339
-
-
Gyapay, G.1
-
43
-
-
0025369509
-
A 3-5 genome equivalent multi access YAC library: Construction, characterisation, screening and storage
-
Anand, R., Riley, J.H., Butler, R., Smith, J.C. & Markham, A.F. A 3-5 genome equivalent multi access YAC library: construction, characterisation, screening and storage. Nucleic Acids Res. 18, 1951-1956 (1990).
-
(1990)
Nucleic Acids Res.
, vol.18
, pp. 1951-1956
-
-
Anand, R.1
Riley, J.H.2
Butler, R.3
Smith, J.C.4
Markham, A.F.5
-
44
-
-
0025897085
-
Yeast artificial chromosome libraries containing large inserts from mouse and human DNA
-
Larin, Z., Monaco, A.P. & Lehrach, H. Yeast artificial chromosome libraries containing large inserts from mouse and human DNA. Proc. Natl Acad. Sci. USA 88, 4123-4127 (1991).
-
(1991)
Proc. Natl Acad. Sci. USA
, vol.88
, pp. 4123-4127
-
-
Larin, Z.1
Monaco, A.P.2
Lehrach, H.3
-
45
-
-
0003549085
-
-
eds Sherman. F., Fink, G.R. & Hicks, J.B. Cold Spring Harbor Press, New York
-
Sherman, F., Fink, G.R. & Hicks, J.B. Laboratory course manual for methods in yeast genetics, (eds Sherman. F., Fink, G.R. & Hicks, J.B.) 117-119 (Cold Spring Harbor Press, New York, 1986).
-
(1986)
Laboratory Course Manual for Methods in Yeast Genetics
, pp. 117-119
-
-
Sherman, F.1
Fink, G.R.2
Hicks, J.B.3
-
46
-
-
0029932257
-
Construction and characterization of human chromosome 2-specific cosmid, fosmid, and PAC clone libraries
-
Gingrich, J.C. et al. Construction and characterization of human chromosome 2-specific cosmid, fosmid, and PAC clone libraries. Genomics 32, 65-74 (1996).
-
(1996)
Genomics
, vol.32
, pp. 65-74
-
-
Gingrich, J.C.1
-
47
-
-
0020793569
-
A technique for radiolabelling DNA endonuclease fragementsto high specific activity
-
Feinberg, A.P. & Vogelstein, B. A technique for radiolabelling DNA endonuclease fragementsto high specific activity. Anat. Biochem. 132, 6-13 (1983).
-
(1983)
Anat. Biochem.
, vol.132
, pp. 6-13
-
-
Feinberg, A.P.1
Vogelstein, B.2
-
48
-
-
16944365196
-
A candidate gene for familial Mediterranean fever
-
The French FMF consortium
-
A candidate gene for familial Mediterranean fever. The French FMF consortium. Nature Genet. 17, 25-31 (1997).
-
(1997)
Nature Genet.
, vol.17
, pp. 25-31
-
-
|