-
1
-
-
0025998134
-
Population frequencies of inherited neuromuscular diseases - A world survey
-
Emery AEH. Population frequencies of inherited neuromuscular diseases - a world survey. Neuromusc Disord 1991; 1: 19-29
-
(1991)
Neuromusc Disord
, vol.1
, pp. 19-29
-
-
Emery, A.E.H.1
-
2
-
-
0000042975
-
On the classification, natural history and treatment of the myopathies
-
Walton JN, Nattrass FJ. On the classification, natural history and treatment of the myopathies. Brain 1954; 77: 169-231
-
(1954)
Brain
, vol.77
, pp. 169-231
-
-
Walton, J.N.1
Nattrass, F.J.2
-
3
-
-
0001302916
-
Ueber die 'juvenile form' der progressiven muskelatrophie ihre beziehungen zur sogehannten pseudohypertrophie der muskeln
-
Erb W. Ueber die 'Juvenile Form' der progressiven Muskelatrophie ihre Beziehungen zur sogehannten Pseudohypertrophie der Muskeln. Dtsch Archiv Klin Med 1884; 34: 467-519
-
(1884)
Dtsch Archiv Klin Med
, vol.34
, pp. 467-519
-
-
Erb, W.1
-
4
-
-
0011290733
-
The limb-girdle syndromes
-
Vinken PJ, Bruyn GW, Ringel SP, eds. Amsterdam: North-Holland
-
Bradley WG. The limb-girdle syndromes. In: Vinken PJ, Bruyn GW, Ringel SP, eds. Diseases of Muscle. Handbook of Clinical Neurology. Amsterdam: North-Holland, 1979: 433-69
-
(1979)
Diseases of Muscle. Handbook of Clinical Neurology
, pp. 433-469
-
-
Bradley, W.G.1
-
6
-
-
0028835527
-
Diagnostic criteria for the limb-girdle muscular dystrophies: Report of the ENMC consortium on limb-girdle muscular dystrophies
-
Bushby KMD. Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC consortium on limb-girdle muscular dystrophies. Neuromusc Disord 1995; 5: 71-4
-
(1995)
Neuromusc Disord
, vol.5
, pp. 71-74
-
-
Bushby, K.M.D.1
-
7
-
-
0029906609
-
Advances in the molecular genetics of autosomal recessive progressive muscular dystrophies
-
Beckmann JS, Bushby K. Advances in the molecular genetics of autosomal recessive progressive muscular dystrophies. Curr Opin Neurol 1996; 9: 389-93
-
(1996)
Curr Opin Neurol
, vol.9
, pp. 389-393
-
-
Beckmann, J.S.1
Bushby, K.2
-
8
-
-
0029334512
-
Report of the 30th and 31st ENMC international workshops on the limb-girdle muscular dystrophies - Proposal for a new nomenclature
-
Bushby KMD, Beckmann JS. Report of the 30th and 31st ENMC International Workshops on the limb-girdle muscular dystrophies - proposal for a new nomenclature. Neuromusc Disord 1995; 5: 337-43.
-
(1995)
Neuromusc Disord
, vol.5
, pp. 337-343
-
-
Bushby, K.M.D.1
Beckmann, J.S.2
-
9
-
-
0345632968
-
Workshop report: The 66th/67th ENMC sponsored workshop ñ the limb-girdle muscular dystrophies
-
In press
-
Beckmann J, Brown R, Muntoni F et al. Workshop report: the 66th/67th ENMC sponsored workshop ñ the limb-girdle muscular dystrophies. Neuromuscular Disorders 1999; In press.
-
(1999)
Neuromuscular Disorders
-
-
Beckmann, J.1
Brown, R.2
Muntoni, F.3
-
10
-
-
0026027805
-
A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage
-
Beckmann JS, Richard I, Hillaire D et al. A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage. C R Acad Sci III 1991; 312: 141-8
-
(1991)
C R Acad Sci III
, vol.312
, pp. 141-148
-
-
Beckmann, J.S.1
Richard, I.2
Hillaire, D.3
-
11
-
-
0027215588
-
Evidence of genetic heterogeneity for the adult form of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families
-
Passos-Bueno M-R, Richard I, Vainzof M et al. Evidence of genetic heterogeneity for the adult form of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families. J Med Genet 1993; 30: 385-7
-
(1993)
J Med Genet
, vol.30
, pp. 385-387
-
-
Passos-Bueno, M.-R.1
Richard, I.2
Vainzof, M.3
-
12
-
-
0026697815
-
Confirmation of linkage of limb-girdle muscular dystrophy, type 2, to chromosome 15
-
Young K, Foroud T, Williams P et al. Confirmation of linkage of limb-girdle muscular dystrophy, type 2, to chromosome 15. Genomics 1992; 13: 1370-1
-
(1992)
Genomics
, vol.13
, pp. 1370-1371
-
-
Young, K.1
Foroud, T.2
Williams, P.3
-
13
-
-
0030477158
-
Identification of muscle-specific calpain and β-sarcoglycan genes in progressive autosomal recessive muscular dystrophies
-
Beckmann JS, Richard I, Broux O et al. Identification of muscle-specific calpain and β-sarcoglycan genes in progressive autosomal recessive muscular dystrophies. Neuromusc Disord 1996; 6: 455-62
-
(1996)
Neuromusc Disord
, vol.6
, pp. 455-462
-
-
Beckmann, J.S.1
Richard, I.2
Broux, O.3
-
14
-
-
0028905205
-
A novel mechanism leading to muscular dystrophy: Mutations in calpain 3 cause limb girdle muscular dystrophy type 2A
-
Richard I, Broux O, Allamand V et al. A novel mechanism leading to muscular dystrophy: mutations in calpain 3 cause limb girdle muscular dystrophy type 2A. Cell 1995; 81: 27-40
-
(1995)
Cell
, vol.81
, pp. 27-40
-
-
Richard, I.1
Broux, O.2
Allamand, V.3
-
15
-
-
0024369426
-
Molecular cloning of a novel mammalian calcium-dependant protease distinct from both m- and mu-type. Specific expression of the mRNA in skeletal muscle
-
Sorimachi H, Imajoh-Ohmi S, Emori Y et al. Molecular cloning of a novel mammalian calcium-dependant protease distinct from both m- and mu-type. Specific expression of the mRNA in skeletal muscle. J Biol Chem 1989; 264: 20106-11
-
(1989)
J Biol Chem
, vol.264
, pp. 20106-20111
-
-
Sorimachi, H.1
Imajoh-Ohmi, S.2
Emori, Y.3
-
16
-
-
0023810276
-
Cloning of the Duchenne/Becker muscular dystrophy locus
-
Monaco AP, Kunkel LM. Cloning of the Duchenne/Becker muscular dystrophy locus. Adv Hum Genet 1988; 17: 61-98
-
(1988)
Adv Hum Genet
, vol.17
, pp. 61-98
-
-
Monaco, A.P.1
Kunkel, L.M.2
-
17
-
-
0024600620
-
Association of dystrophin and an integral membrane glycoprotein
-
Campbell KP, Kahl SD. Association of dystrophin and an integral membrane glycoprotein. Nature 1989; 338: 259-62
-
(1989)
Nature
, vol.338
, pp. 259-262
-
-
Campbell, K.P.1
Kahl, S.D.2
-
18
-
-
0025815479
-
Membrane organization of the dystrophin-glycoprotein complex
-
Ervasti JM, Campbell KP. Membrane organization of the dystrophin-glycoprotein complex. Cell 1991; 66: 1121-31
-
(1991)
Cell
, vol.66
, pp. 1121-1131
-
-
Ervasti, J.M.1
Campbell, K.P.2
-
19
-
-
0025242185
-
Glycoprotein complex anchoring dystrophin to sarcolemma
-
Yoshida M, Ozawa E. Glycoprotein complex anchoring dystrophin to sarcolemma. J Biochem (Tokyo) 1990; 108: 748-52
-
(1990)
J Biochem (Tokyo)
, vol.108
, pp. 748-752
-
-
Yoshida, M.1
Ozawa, E.2
-
20
-
-
0025272250
-
Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle
-
Ervasti JM, Ohlendieck K, Kahl SD, Gaver MG, Campbell KP. Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle. Nature 1990; 345: 315-9
-
(1990)
Nature
, vol.345
, pp. 315-319
-
-
Ervasti, J.M.1
Ohlendieck, K.2
Kahl, S.D.3
Gaver, M.G.4
Campbell, K.P.5
-
21
-
-
0027432042
-
Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having in-frame deletions in the rod domain of dystrophin
-
Matsumura K, Nonaka I, Tome FMS et al. Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having in-frame deletions in the rod domain of dystrophin. Am J Hum Genet 1993; 53: 409-16
-
(1993)
Am J Hum Genet
, vol.53
, pp. 409-416
-
-
Matsumura, K.1
Nonaka, I.2
Tome, F.M.S.3
-
22
-
-
0026757138
-
Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy
-
Matsumura K, Tomé FMS, Collin H et al. Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature 1992; 359: 320-2
-
(1992)
Nature
, vol.359
, pp. 320-322
-
-
Matsumura, K.1
Tomé, F.M.S.2
Collin, H.3
-
23
-
-
0028146869
-
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
-
Roberds SL, Leturcq F, Allamand V et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 1994; 78: 625-33
-
(1994)
Cell
, vol.78
, pp. 625-633
-
-
Roberds, S.L.1
Leturcq, F.2
Allamand, V.3
-
24
-
-
0028012859
-
Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency
-
Romero NB, Tomé FMS, Leturcq F et al. Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency. C R Acad. Sci. III 1994; 317: 70-6
-
(1994)
C R Acad. Sci. III
, vol.317
, pp. 70-76
-
-
Romero, N.B.1
Tomé, F.M.S.2
Leturcq, F.3
-
25
-
-
0027032694
-
Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q
-
Ben Othmane K, Ben Hamida M, Pericak-Vance MA et al. Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nat Genet 1992; 2: 315-7
-
(1992)
Nat Genet
, vol.2
, pp. 315-317
-
-
Ben Othmane, K.1
Ben Hamida, M.2
Pericak-Vance, M.A.3
-
26
-
-
0029152259
-
Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C)
-
Ben Othmane K, Speer MC, Stauffer J et al. Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C). Am J Hum Genet 1995; 57: 732-4
-
(1995)
Am J Hum Genet
, vol.57
, pp. 732-734
-
-
Ben Othmane, K.1
Speer, M.C.2
Stauffer, J.3
-
27
-
-
19244373991
-
From adhalinopathies to alpha-sarcoglycanopathies. An overview
-
Jeanpierre M, Carrié A, Piccolo F et al. From adhalinopathies to alpha-sarcoglycanopathies. An overview. Neuromusc Disord 1996; 6: 463-5
-
(1996)
Neuromusc Disord
, vol.6
, pp. 463-465
-
-
Jeanpierre, M.1
Carrié, A.2
Piccolo, F.3
-
28
-
-
0027361264
-
Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin)
-
Roberds SL, Anderson RD, Ibraghimov-Beskrovnaya O, Campbell KP. Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin). J Biol Chem 1993; 268: 23739-42
-
(1993)
J Biol Chem
, vol.268
, pp. 23739-23742
-
-
Roberds, S.L.1
Anderson, R.D.2
Ibraghimov-Beskrovnaya, O.3
Campbell, K.P.4
-
29
-
-
0027932422
-
Selective defect of complex in severe childhood autosomal recessive muscular dystrophy muscle
-
Mizuno Y, Noguchi S, Yamamoto H et al. Selective defect of complex in severe childhood autosomal recessive muscular dystrophy muscle. Biochem Biophys Res Commun 1994; 203: 979-83
-
(1994)
Biochem Biophys Res Commun
, vol.203
, pp. 979-983
-
-
Mizuno, Y.1
Noguchi, S.2
Yamamoto, H.3
-
30
-
-
0029089582
-
Dystrophin-associated proteins in muscular dystrophy
-
Ozawa E, Yoshida M, Suzuki A, Mizuno Y, Hagiwara Y, Noguchi S. Dystrophin-associated proteins in muscular dystrophy. Hum Molec Genet 1994; 4: 1711-6
-
(1994)
Hum Molec Genet
, vol.4
, pp. 1711-1716
-
-
Ozawa, E.1
Yoshida, M.2
Suzuki, A.3
Mizuno, Y.4
Hagiwara, Y.5
Noguchi, S.6
-
31
-
-
0028971221
-
β-sarcoglycan: Characterization and role in limb-girdle muscular dystrophy linked to 4q12
-
Lim LE, Duclos F, Broux O et al. β-Sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet 1995, 11: 257-65
-
(1995)
Nat Genet
, vol.11
, pp. 257-265
-
-
Lim, L.E.1
Duclos, F.2
Broux, O.3
-
32
-
-
0028971219
-
Mutations in the dystrophin-associated glycoprotein β-sarcoglycan (A3b) cause autosomal muscular dystrophy with disintegration of the sarcoglycan complex
-
Bönnemann CG, Modi R, Noguchi S et al. Mutations in the dystrophin-associated glycoprotein β-sarcoglycan (A3b) cause autosomal muscular dystrophy with disintegration of the sarcoglycan complex. Nat Genet 1995; 11: 266-73
-
(1995)
Nat Genet
, vol.11
, pp. 266-273
-
-
Bönnemann, C.G.1
Modi, R.2
Noguchi, S.3
-
33
-
-
0028883973
-
Mutations in the dystrophin-associated glycoprotein γ-sarcoglycan in chromosome 13 muscular dystrophy
-
Noguchi S, McNally EM, Ben Othmane K et al. Mutations in the dystrophin-associated glycoprotein γ-sarcoglycan in chromosome 13 muscular dystrophy. Science 1995; 270: 819-22
-
(1995)
Science
, vol.270
, pp. 819-822
-
-
Noguchi, S.1
McNally, E.M.2
Ben Othmane, K.3
-
34
-
-
0029816797
-
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ-sarcoglycan gene
-
Nigro V, Moreira ES, Piluso G et al. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ-sarcoglycan gene. Nat Genet 1996; 14: 195-8
-
(1996)
Nat Genet
, vol.14
, pp. 195-198
-
-
Nigro, V.1
Moreira, E.S.2
Piluso, G.3
-
35
-
-
0030008373
-
Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD
-
Passos-Bueno M-R, Moreira ES, Vainzof M, Marie SK, Zatz M. Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD. Hum Molec Genet 1996; 6: 815-20
-
(1996)
Hum Molec Genet
, vol.6
, pp. 815-820
-
-
Passos-Bueno, M.-R.1
Moreira, E.S.2
Vainzof, M.3
Marie, S.K.4
Zatz, M.5
-
36
-
-
10144247267
-
Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein
-
Nigro V, Piluso G, Belsito A et al. Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein. Hum Mol Genet 1996; 5: 1179-86
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1179-1186
-
-
Nigro, V.1
Piluso, G.2
Belsito, A.3
-
37
-
-
0028914964
-
Three muscular dystrophies: Loss of cytoskeleton-extracellular matrix linkage
-
Campbell KP. Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage. Cell 1995; 80: 675-9
-
(1995)
Cell
, vol.80
, pp. 675-679
-
-
Campbell, K.P.1
-
38
-
-
0028877455
-
Muscular dystrophies: Diseases of the dystrophin-glycoprotein complex
-
Worton R. Muscular dystrophies: diseases of the dystrophin-glycoprotein complex. Science 1995; 270: 755-6
-
(1995)
Science
, vol.270
, pp. 755-756
-
-
Worton, R.1
-
39
-
-
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 1998; 21: 421-38
-
(1998)
Muscle Nerve
, vol.21
, pp. 421-438
-
-
Ozawa, E.1
Noguchi, S.2
Mizuno, Y.3
Hagiwara, Y.4
Yoshida, M.5
-
40
-
-
0030055567
-
Genetic studies and molecular structures: The dystrophin associated complex
-
Beckmann JS. Genetic studies and molecular structures: the dystrophin associated complex. Hum Mol Genet 1996; 5: 865-7
-
(1996)
Hum Mol Genet
, vol.5
, pp. 865-867
-
-
Beckmann, J.S.1
-
41
-
-
0028326542
-
A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p
-
Bashir R, Strachan T, Keers S et al. A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum Mol Genet 1994; 3: 455-7
-
(1994)
Hum Mol Genet
, vol.3
, pp. 455-457
-
-
Bashir, R.1
Strachan, T.2
Keers, S.3
-
42
-
-
0029873710
-
Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p
-
Bashir R, Keers S, Strachan T et al. Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p. Genomics 1996; 33: 46-52
-
(1996)
Genomics
, vol.33
, pp. 46-52
-
-
Bashir, R.1
Keers, S.2
Strachan, T.3
-
43
-
-
0030765309
-
New LGMD locus (LGMD2G) mapped to 17q11-q12
-
Moreira ES, Vainzof M, Marie SK, Sertié AL, Zatz M, Passos-Bueno MR. New LGMD locus (LGMD2G) mapped to 17q11-q12. Am J Hum Genet 1997; 61: 151-6
-
(1997)
Am J Hum Genet
, vol.61
, pp. 151-156
-
-
Moreira, E.S.1
Vainzof, M.2
Marie, S.K.3
Sertié, A.L.4
Zatz, M.5
Passos-Bueno, M.R.6
-
44
-
-
0032231939
-
A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba hutterites maps to chromosome region 9q31-q33: Evidence for another LGMD locus
-
Weiler T, Greenberg CR, Zelinski T et al. A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another LGMD locus. Am J Hum Genet 1998; 63: 140-7
-
(1998)
Am J Hum Genet
, vol.63
, pp. 140-147
-
-
Weiler, T.1
Greenberg, C.R.2
Zelinski, T.3
-
45
-
-
0028951204
-
Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14
-
Bejaoui K, Hirabayashi K, Hentati F et al. Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14. Neurology 1995; 45: 768-72
-
(1995)
Neurology
, vol.45
, pp. 768-772
-
-
Bejaoui, K.1
Hirabayashi, K.2
Hentati, F.3
-
46
-
-
0029845713
-
Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype
-
Weiler T, Greenberg CR, Nylen E 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 1996; 59: 872-8
-
(1996)
Am J Hum Genet
, vol.59
, pp. 872-878
-
-
Weiler, T.1
Greenberg, C.R.2
Nylen, E.3
-
47
-
-
12644258539
-
Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy
-
Illarioshkin S, Ivanova-Smolenskaya IA, Tanaka H et al. Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy. Brain 1996; 119: 1895-909
-
(1996)
Brain
, vol.119
, pp. 1895-1909
-
-
Illarioshkin, S.1
Ivanova-Smolenskaya, I.A.2
Tanaka, H.3
-
48
-
-
0029339936
-
How neutral are synonymous codon mutations?
-
Richard I, Beckmann JS. How neutral are synonymous codon mutations? Nat Genet 1995; 10: 259
-
(1995)
Nat Genet
, vol.10
, pp. 259
-
-
Richard, I.1
Beckmann, J.S.2
-
49
-
-
17344365600
-
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
-
Liu J, Aoki M, Illa I, Wu C et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nature Genet 1998; 20: 31-6
-
(1998)
Nature Genet
, vol.20
, pp. 31-36
-
-
Liu, J.1
Aoki, M.2
Illa, I.3
Wu, C.4
-
50
-
-
17344363640
-
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
-
Bashir R, Britton S, Strachan T et al. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nature Genet 1998; 20: 37-42
-
(1998)
Nature Genet
, vol.20
, pp. 37-42
-
-
Bashir, R.1
Britton, S.2
Strachan, T.3
-
51
-
-
0032897762
-
Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)
-
Weiler T, Bashir R, Anderson L et al. Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). Hum Molec Genet 1999; 8: 871-7
-
(1999)
Hum Molec Genet
, vol.8
, pp. 871-877
-
-
Weiler, T.1
Bashir, R.2
Anderson, L.3
-
52
-
-
0032955751
-
Dysferlin is a plasma membrane protein and is expressed early in human development
-
Anderson L, Davison K, Moss J et al. Dysferlin is a plasma membrane protein and is expressed early in human development. Hum Molec Genet 1999; 8: 855-61
-
(1999)
Hum Molec Genet
, vol.8
, pp. 855-861
-
-
Anderson, L.1
Davison, K.2
Moss, J.3
-
53
-
-
0031920515
-
Mutations in the caveolin-3 gene cause autosomal dominant limb girdle muscular dystrophy
-
Minetti C, Sotgia F, Bruno C et al. Mutations in the caveolin-3 gene cause autosomal dominant limb girdle muscular dystrophy. Nat Genet 1998; 18: 365-8
-
(1998)
Nat Genet
, vol.18
, pp. 365-368
-
-
Minetti, C.1
Sotgia, F.2
Bruno, C.3
-
55
-
-
0031979926
-
Assignment of the tibial muscular dystrophy locus to chromosome 2q31
-
Haravuori H, Makela-Bengs P, Udd B et al. Assignment of the tibial muscular dystrophy locus to chromosome 2q31. Am J Hum Genet 1998; 62: 620-6
-
(1998)
Am J Hum Genet
, vol.62
, pp. 620-626
-
-
Haravuori, H.1
Makela-Bengs, P.2
Udd, B.3
-
56
-
-
0033361883
-
Calpainopathy-A survey of mutations and polymorphisms
-
Richard I, Roudaut C, Saenz A et al. Calpainopathy-A survey of mutations and polymorphisms. Am J Hum Genet 1999; 64(6):1524-40.
-
(1999)
Am J Hum Genet
, vol.64
, Issue.6
, pp. 1524-1540
-
-
Richard, I.1
Roudaut, C.2
Saenz, A.3
-
57
-
-
0031892439
-
Cloning and expression of mRNA for calpain Lp82 from rat lens: Splice variant of p94
-
Ma H, Fukiage C, Azuma M, Shearer TR. Cloning and expression of mRNA for calpain Lp82 from rat lens: splice variant of p94. Invest Ophthalmol Vis Sci 1998; 39: 454-61
-
(1998)
Invest Ophthalmol Vis Sci
, vol.39
, pp. 454-461
-
-
Ma, H.1
Fukiage, C.2
Azuma, M.3
Shearer, T.R.4
-
58
-
-
0020606260
-
Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia
-
Ben Hamida M, Fardeau M, Attia N. Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia. Muscle Nerve 1983; 6: 469-80
-
(1983)
Muscle Nerve
, vol.6
, pp. 469-480
-
-
Ben Hamida, M.1
Fardeau, M.2
Attia, N.3
-
59
-
-
0029319426
-
Primary adhalinopathy: A common cause of autosomal recessive muscular dystrophy of variable severity
-
Piccolo F, Roberds SL, Jeanpierre M et al. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nat Genet 1995; 10: 243-5
-
(1995)
Nat Genet
, vol.10
, pp. 243-245
-
-
Piccolo, F.1
Roberds, S.L.2
Jeanpierre, M.3
-
60
-
-
16944365227
-
Mutational diversity and hot spots in the α7-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)
-
Carrié A, Piccolo F, Leturcq F et al. Mutational diversity and hot spots in the α7-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). J Med Genet 1997; 34: 470-5
-
(1997)
J Med Genet
, vol.34
, pp. 470-475
-
-
Carrié, A.1
Piccolo, F.2
Leturcq, F.3
-
61
-
-
15444348850
-
A biochemical, genetic and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey
-
Dinçer P, Leturcq F, Richard I et al. A biochemical, genetic and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey. Ann Neurol 1997; 42: 222-9
-
(1997)
Ann Neurol
, vol.42
, pp. 222-229
-
-
Dinçer, P.1
Leturcq, F.2
Richard, I.3
-
62
-
-
19244363787
-
Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation
-
McNally E, Passos-Bueno R, Bönnemann CG et al. Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation. Am J Hum Genet 1996; 59: 1040-7
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1040-1047
-
-
McNally, E.1
Passos-Bueno, R.2
Bönnemann, C.G.3
-
63
-
-
0032132736
-
Pseudo-metabolic expression and phenotypic variability of calpain deficiency in two siblings
-
Pénisson-Besnier I, Richard I, Dubas E, Beckmann JS, Fardeau M. Pseudo-metabolic expression and phenotypic variability of calpain deficiency in two siblings. Muscle Nerve 1998; 21(8): 1078-80
-
(1998)
Muscle Nerve
, vol.21
, Issue.8
, pp. 1078-1080
-
-
Pénisson-Besnier, I.1
Richard, I.2
Dubas, E.3
Beckmann, J.S.4
Fardeau, M.5
-
64
-
-
16944362484
-
Multiple independent molecular etiology for limb girdle muscular dystrophy type 2A patients from various geographical origins
-
Richard I, Brenguier L, Dinçer P et al. Multiple independent molecular etiology for limb girdle muscular dystrophy type 2A patients from various geographical origins. Am J Hum Genet 1997; 60: 1128-38
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1128-1138
-
-
Richard, I.1
Brenguier, L.2
Dinçer, P.3
-
65
-
-
0033050067
-
Expression and functional characteristics of Calpain 3 isoforms generated through tissue-specific transcriptional and post-transcriptional events
-
Herasse M, Ono Y, Fougerousse F et al. Expression and functional characteristics of Calpain 3 isoforms generated through tissue-specific transcriptional and post-transcriptional events. Mol Cell Biol 1999; 19(6): 4047-55
-
(1999)
Mol Cell Biol
, vol.19
, Issue.6
, pp. 4047-4055
-
-
Herasse, M.1
Ono, Y.2
Fougerousse, F.3
-
66
-
-
0014250116
-
Limb-girdle muscular dystrophy: Clinical manifestations and detection of preclinical disease
-
Jackson CE, Strehler DA. Limb-girdle muscular dystrophy: clinical manifestations and detection of preclinical disease. Pediatrics 1968; 41: 495-502
-
(1968)
Pediatrics
, vol.41
, pp. 495-502
-
-
Jackson, C.E.1
Strehler, D.A.2
-
67
-
-
0031691228
-
Limb-girdle muscular dystrophy in Guipuzcoa (Basque country, Spain)
-
Urtasun M, Saenz A, Roudaut C et al. Limb-girdle muscular dystrophy in Guipuzcoa (Basque country, Spain). Brain 1998; 121(Pt 9): 1735-47
-
(1998)
Brain
, vol.121
, Issue.PT 9
, pp. 1735-1747
-
-
Urtasun, M.1
Saenz, A.2
Roudaut, C.3
-
68
-
-
0028997311
-
Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1 cM 15q15.1-q15.3 interval
-
Allamand V, Broux O, Richard I et al. Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1 cM 15q15.1-q15.3 interval. Am J Hum Genet 1995; 56: 1417-30
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1417-1430
-
-
Allamand, V.1
Broux, O.2
Richard, I.3
-
69
-
-
0028968790
-
Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus
-
Allamand V, Broux O, Bourg N 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 1995; 4: 459-63
-
(1995)
Hum Mol Genet
, vol.4
, pp. 459-463
-
-
Allamand, V.1
Broux, O.2
Bourg, N.3
-
70
-
-
0027379866
-
Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: Multiple allelic mutations of the IDUA gene in a small geographic area
-
Bach G, Moskowitz SM, Tieu PT et al. Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area. Am J Hum Genet 1994; 53: 330-8
-
(1994)
Am J Hum Genet
, vol.53
, pp. 330-338
-
-
Bach, G.1
Moskowitz, S.M.2
Tieu, P.T.3
-
71
-
-
0028229122
-
Recombinations in individuals homozygous by descent localize the Friedrich Ataxia locus in a cloned 450 kb interval
-
Rodius F, Duclos F, Wrogemann K et al. Recombinations in individuals homozygous by descent localize the Friedrich Ataxia locus in a cloned 450 kb interval. Am J Hum Genet 1994; 54: 1050-9
-
(1994)
Am J Hum Genet
, vol.54
, pp. 1050-1059
-
-
Rodius, F.1
Duclos, F.2
Wrogemann, K.3
-
72
-
-
0028794623
-
Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area
-
Heinisch U, Zlotogora J, Kafert S, Gieselmann V. Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area. Am J Hum Genet 1995; 56: 51-7
-
(1995)
Am J Hum Genet
, vol.56
, pp. 51-57
-
-
Heinisch, U.1
Zlotogora, J.2
Kafert, S.3
Gieselmann, V.4
-
73
-
-
0029655863
-
Multiple mutations in a specific gene in a small geographic area: A common phenomenon?
-
Zlotogora J, Gieselmann V, Bach G. Multiple mutations in a specific gene in a small geographic area: a common phenomenon? Am J Hum Genet 1996; 58: 241-3
-
(1996)
Am J Hum Genet
, vol.58
, pp. 241-243
-
-
Zlotogora, J.1
Gieselmann, V.2
Bach, G.3
-
74
-
-
0028245437
-
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci
-
Kajiwara K, Berson EL, Dryja TP. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 1994; 264: 1604-8
-
(1994)
Science
, vol.264
, pp. 1604-1608
-
-
Kajiwara, K.1
Berson, E.L.2
Dryja, T.P.3
-
75
-
-
0029045522
-
A foundation for limb girdle muscular dystrophy
-
Van Ommen G-J. A foundation for limb girdle muscular dystrophy. Nat Med 1995; 1:412-4
-
(1995)
Nat Med
, vol.1
, pp. 412-414
-
-
Van Ommen, G.-J.1
-
76
-
-
0029658562
-
The réunion paradox and the digenic model
-
Beckmann JS. The Réunion paradox and the digenic model. Am J Hum Genet 1996; 59: 1400-2
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1400-1402
-
-
Beckmann, J.S.1
-
77
-
-
0029143853
-
Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy
-
Cobben JM, Van der Steege, Grootscholten P, de Visser M, Scheffer H, Buys CHCM. Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Am J Hum Genet 1995; 57: 805-8
-
(1995)
Am J Hum Genet
, vol.57
, pp. 805-808
-
-
Cobben, J.M.1
Van Der Steege2
Grootscholten, P.3
De Visser, M.4
Scheffer, H.5
Buys, C.H.C.M.6
-
78
-
-
0028785098
-
Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: Evidence of homozygous deletions of the SMN gene in unaffected individuals
-
Hahnen E, Forkert R, Marke C et al. Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals. Hum Molec Genet 1995; 4: 1927-33
-
(1995)
Hum Molec Genet
, vol.4
, pp. 1927-1933
-
-
Hahnen, E.1
Forkert, R.2
Marke, C.3
-
79
-
-
0027490726
-
Hereditary triosephosphate isomerase (TPI) deficiency: Two severely affected brothers one with one without neurological symptoms
-
Hollan S, Fujii H, Hirono A et al. Hereditary triosephosphate isomerase (TPI) deficiency: two severely affected brothers one with one without neurological symptoms. Hum Genet 1993; 92: 486-90
-
(1993)
Hum Genet
, vol.92
, pp. 486-490
-
-
Hollan, S.1
Fujii, H.2
Hirono, A.3
-
80
-
-
0028819262
-
Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population
-
Risch N, de Leon D, Ozelius L et al. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet 1995; 9: 152-9
-
(1995)
Nat Genet
, vol.9
, pp. 152-159
-
-
Risch, N.1
De Leon, D.2
Ozelius, L.3
-
81
-
-
0028566385
-
Diverse phenotypes associated with exon 10 mutations of the Ret proto-oncogene
-
Mulligan LM, Eng C., Attié T et al. Diverse phenotypes associated with exon 10 mutations of the Ret proto-oncogene. Hum Molec Genet 1994; 3: 2163-7
-
(1994)
Hum Molec Genet
, vol.3
, pp. 2163-2167
-
-
Mulligan, L.M.1
Eng, C.2
Attié, T.3
-
82
-
-
0030051493
-
T) gene deletions in asymptomatic carriers of spinal muscular atrophy
-
T) gene deletions in asymptomatic carriers of spinal muscular atrophy. Hum Mol Genet 1996, 5: 359-65
-
(1996)
Hum Mol Genet
, vol.5
, pp. 359-365
-
-
Wang, C.H.1
Xu, J.2
Carter, T.A.3
-
83
-
-
0029947832
-
Model mice and human disease
-
Wynshaw-Boris A. Model mice and human disease. Nat Genet 1996; 13: 259-60
-
(1996)
Nat Genet
, vol.13
, pp. 259-260
-
-
Wynshaw-Boris, A.1
-
84
-
-
0030986495
-
Evolutionary origins and maintenance of redundant gene expression during metazoan development
-
Cooke J, Nowak MA, Boerlijst, Maynard-Smith J. Evolutionary origins and maintenance of redundant gene expression during metazoan development. Trends Genet 1997; 13: 360-4
-
(1997)
Trends Genet
, vol.13
, pp. 360-364
-
-
Cooke, J.1
Nowak, M.A.2
Maynard-Smith, J.3
-
85
-
-
13344282728
-
Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor
-
Rozmahel R, Wilschanski M, Matin A et al. Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Nat Genet 1996; 12: 280-7
-
(1996)
Nat Genet
, vol.12
, pp. 280-287
-
-
Rozmahel, R.1
Wilschanski, M.2
Matin, A.3
|