-
1
-
-
0022496289
-
Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene
-
Monaco AP, Neve RL, Colletti-Feener C, et al. Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature 1986;323:646-50.
-
(1986)
Nature
, vol.323
, pp. 646-650
-
-
Monaco, A.P.1
Neve, R.L.2
Colletti-Feener, C.3
-
2
-
-
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, Hoffman EP, Bertelson CJ, 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 1987;50:509-17.
-
(1987)
Cell
, vol.50
, pp. 509-517
-
-
Koenig, M.1
Hoffman, E.P.2
Bertelson, C.J.3
-
3
-
-
0023614188
-
Dystrophin: The protein product of the Duchenne muscular dystrophy locus
-
Hoffman EP, Brown Jr. RH, Kunkel LM. Dystrophin: The protein product of the Duchenne muscular dystrophy locus. Cell 1987;51:919-28.
-
(1987)
Cell
, vol.51
, pp. 919-928
-
-
Hoffman, E.P.1
Brown R.H., Jr.2
Kunkel, L.M.3
-
4
-
-
17344365600
-
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
-
Liu J, Aoki M, Illa I, et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 1998;20:31-6.
-
(1998)
Nat Genet
, vol.20
, pp. 31-36
-
-
Liu, J.1
Aoki, M.2
Illa, I.3
-
5
-
-
0034719093
-
Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy
-
Illarioshkin SN, Ivanova-Smolenskaya IA, Greenberg CR, et al. Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. Neurology 2000;55:1931-3.
-
(2000)
Neurology
, vol.55
, pp. 1931-1933
-
-
Illarioshkin, S.N.1
Ivanova-Smolenskaya, I.A.2
Greenberg, C.R.3
-
6
-
-
0027985787
-
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
-
Bione S, Maestrini E, Rivella S, et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet 1994;8:323-7.
-
(1994)
Nat Genet
, vol.8
, pp. 323-327
-
-
Bione, S.1
Maestrini, E.2
Rivella, S.3
-
7
-
-
0034702027
-
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb-girdle muscular dystrophy with atrioventricular conduction disturbances (LGMDIB)
-
Muchir A, Bonne G, Van Der Kooi AJ, et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb-girdle muscular dystrophy with atrioventricular conduction disturbances (LGMDIB). Hum Mol Genet 2000;9:1453-9.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1453-1459
-
-
Muchir, A.1
Bonne, G.2
Van Der Kooi, A.J.3
-
9
-
-
0034047562
-
The molecular diagnosis of metabolic myopathies
-
Vladutiu G. The molecular diagnosis of metabolic myopathies. Neurol Clin 2000;18:53-104.
-
(2000)
Neurol Clin
, vol.18
, pp. 53-104
-
-
Vladutiu, G.1
-
10
-
-
0034005474
-
Metabolic Myopathies
-
Pourmand R. Metabolic Myopathies. Neurol Clin 2000;18:1-14.
-
(2000)
Neurol Clin
, vol.18
, pp. 1-14
-
-
Pourmand, R.1
-
11
-
-
0025869545
-
Prednisone in Duchenne dystrophy: A randomized, controlled trial defining the time course and dose response
-
Clinical Investigation of Duchenne Dystrophy Group
-
Griggs RC, Moxley 3rd RT, Mendell JR, et al. Prednisone in Duchenne dystrophy: A randomized, controlled trial defining the time course and dose response. Clinical Investigation of Duchenne Dystrophy Group. Arch Neurol 1991;48:383-8.
-
(1991)
Arch Neurol
, vol.48
, pp. 383-388
-
-
Griggs, R.C.1
Moxley R.T. III2
Mendell, J.R.3
-
12
-
-
0024332294
-
Randomized, double-blind six-month trial of prednisone in Duchenne's muscular dystrophy
-
Mendell JR, Moxley RT, Griggs RC, et al. Randomized, double-blind six-month trial of prednisone in Duchenne's muscular dystrophy. N Engl J Med 1989;320:1592-7.
-
(1989)
N Engl J Med
, vol.320
, pp. 1592-1597
-
-
Mendell, J.R.1
Moxley, R.T.2
Griggs, R.C.3
-
13
-
-
0016287539
-
Prednisone in Duchenne muscular dystrophy
-
Drachman DB, Toyka KV, Myer E. Prednisone in Duchenne muscular dystrophy. Lancet 1974;2:1409-12.
-
(1974)
Lancet
, vol.2
, pp. 1409-1412
-
-
Drachman, D.B.1
Toyka, K.V.2
Myer, E.3
-
14
-
-
0026764256
-
Dystrophinopathy in isolated cases of myopathy in females
-
Hoffman EP, Arahata K, Minetti C, et al. Dystrophinopathy in isolated cases of myopathy in females. Neurology 1992;42:967-75.
-
(1992)
Neurology
, vol.42
, pp. 967-975
-
-
Hoffman, E.P.1
Arahata, K.2
Minetti, C.3
-
15
-
-
0020535878
-
Prospective study of X-linked progressive muscular dystrophy in Campania
-
Nigro V. Prospective study of X-linked progressive muscular dystrophy in Campania. Muscle Nerve 1983;6:253-62.
-
(1983)
Muscle Nerve
, vol.6
, pp. 253-262
-
-
Nigro, V.1
-
16
-
-
0033662464
-
Cardiac involvement in primary myopathies
-
Finsterer J, Stollberger C. Cardiac involvement in primary myopathies. Cardiology 2000;94:1-11.
-
(2000)
Cardiology
, vol.94
, pp. 1-11
-
-
Finsterer, J.1
Stollberger, C.2
-
18
-
-
0033551019
-
Absence of brain Dpl40 isoform and cognitive impairment in Becker muscular dystrophy
-
Bardoni A, Sironi M, Felisari G, et al. Absence of brain Dpl40 isoform and cognitive impairment in Becker muscular dystrophy. Lancet 1999;353:897-8.
-
(1999)
Lancet
, vol.353
, pp. 897-898
-
-
Bardoni, A.1
Sironi, M.2
Felisari, G.3
-
19
-
-
0027929953
-
Cognitive impairment in Duchenne muscular dystrophy
-
Bresolin N, Castelli E, Comi GP, et al. Cognitive impairment in Duchenne muscular dystrophy. Neuromuscul Disord 1994;4:359-69.
-
(1994)
Neuromuscul Disord
, vol.4
, pp. 359-369
-
-
Bresolin, N.1
Castelli, E.2
Comi, G.P.3
-
20
-
-
0025257614
-
Segregation analysis of 1885 DMD families: Significant departure from the expected proportion of sporadic cases
-
Barbujani G, Russo A, Danieli GA, et al. Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases. Hum Genet 1990;84:522-6.
-
(1990)
Hum Genet
, vol.84
, pp. 522-526
-
-
Barbujani, G.1
Russo, A.2
Danieli, G.A.3
-
21
-
-
0028092013
-
Molecular diagnosis and modern management of Duchenne muscular dystrophy
-
Miller RG, Hoffman EP. Molecular diagnosis and modern management of Duchenne muscular dystrophy. Neurol Clin 1994;12:699-725.
-
(1994)
Neurol Clin
, vol.12
, pp. 699-725
-
-
Miller, R.G.1
Hoffman, E.P.2
-
22
-
-
0025244924
-
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
-
Beggs AH, Koenig M, Bocye FM, et al. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 1990;86:45-8.
-
(1990)
Hum Genet
, vol.86
, pp. 45-48
-
-
Beggs, A.H.1
Koenig, M.2
Bocye, F.M.3
-
23
-
-
0035964228
-
Diagnosis of Duchenne dystrophy by enhanced detection of small mutations
-
Mendell JR, Buzin CH, Feng J, et al. Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. Neurology 2001;57:574-5.
-
(2001)
Neurology
, vol.57
, pp. 574-575
-
-
Mendell, J.R.1
Buzin, C.H.2
Feng, J.3
-
24
-
-
0029073192
-
Spectrum of small mutations in the dystrophin coding region
-
Prior TW, Bartolo C, Pearl DK, et al. Spectrum of small mutations in the dystrophin coding region. Am J Hum Genet 1995;57:22-3.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 22-23
-
-
Prior, T.W.1
Bartolo, C.2
Pearl, D.K.3
-
25
-
-
0032720705
-
Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice
-
Barton-Davis ER, Cordier L, Shoturma DI, et al. Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. J Clin Invest 1999;104:375-81.
-
(1999)
J Clin Invest
, vol.104
, pp. 375-381
-
-
Barton-Davis, E.R.1
Cordier, L.2
Shoturma, D.I.3
-
26
-
-
0034982292
-
Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations
-
Wagner KR, Hamed S, Hadley DW, et al. Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations. Ann Neurol 2001;49:706-11.
-
(2001)
Ann Neurol
, vol.49
, pp. 706-711
-
-
Wagner, K.R.1
Hamed, S.2
Hadley, D.W.3
-
27
-
-
0002625353
-
Gentamicin treatment for muscular dystrophy patients with stop codon mutations
-
Serrano C, Wall C, Moore S, et al. Gentamicin treatment for muscular dystrophy patients with stop codon mutations. Neurology 2001;56(Suppl 3):A79.
-
(2001)
Neurology
, vol.56
, Issue.SUPPL. 3
-
-
Serrano, C.1
Wall, C.2
Moore, S.3
-
28
-
-
0032882445
-
The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms
-
Bushby KMD. The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms. Hum Mol Genet 1999;8:1875-82.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1875-1882
-
-
Bushby, K.M.D.1
-
29
-
-
17344367732
-
Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy
-
Speer MC, Gilchrist JM, Stajich JM, et al. Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy. J Med Genet 1998;35:305-8.
-
(1998)
J Med Genet
, vol.35
, pp. 305-308
-
-
Speer, M.C.1
Gilchrist, J.M.2
Stajich, J.M.3
-
30
-
-
0034284682
-
Myotilin is mutated in limb girdle muscular dystrophy 1A
-
Hauser MA, Horrigan SK, Salmikangas P, et al. Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet 2000;9:2141-7.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2141-2147
-
-
Hauser, M.A.1
Horrigan, S.K.2
Salmikangas, P.3
-
31
-
-
0344759163
-
Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy
-
Salmikangas P, Mykkanen OM, Gronholm M, et al. Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy. Hum Mol Genet 1999;8:1329-36.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1329-1336
-
-
Salmikangas, P.1
Mykkanen, O.M.2
Gronholm, M.3
-
32
-
-
0026690760
-
Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: Linkage of an autosomal dominant form to chromosome 5q
-
Speer MC, Yamaoka LH, Gilchrist JM, et al. Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q. Am J Hum Genet 1992;50:1211-7.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 1211-1217
-
-
Speer, M.C.1
Yamaoka, L.H.2
Gilchrist, J.M.3
-
33
-
-
0030898109
-
Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21
-
Van Der Kooi AJ, Van Meegen M, Ledderhof TM, et al. Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. Am J Hum Genet 1997;60:891-5.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 891-895
-
-
Van Der Kooi, A.J.1
Van Meegen, M.2
Ledderhof, T.M.3
-
34
-
-
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
-
36
-
-
0035253580
-
Transgenic mice expressing mutant caveolin-3 show severe myopathy associated with increased nNOS activity
-
Sunada Y, Ohi H, Hase A, et al. Transgenic mice expressing mutant caveolin-3 show severe myopathy associated with increased nNOS activity. Hum Mol Genet 2001;10:173-8.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 173-178
-
-
Sunada, Y.1
Ohi, H.2
Hase, A.3
-
37
-
-
0034944010
-
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease
-
Betz RC, Schoser BG, Kasper D, et al. Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. Nat Genet 2001;28:218-9.
-
(2001)
Nat Genet
, vol.28
, pp. 218-219
-
-
Betz, R.C.1
Schoser, B.G.2
Kasper, D.3
-
38
-
-
0032559065
-
Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb-girdle muscular dystrophy 2D gene
-
McNally EM, Ly CT, Kunkel LM. Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb-girdle muscular dystrophy 2D gene. FEBS Lett 1998;422:27-32.
-
(1998)
FEBS Lett
, vol.422
, pp. 27-32
-
-
McNally, E.M.1
Ly, C.T.2
Kunkel, L.M.3
-
39
-
-
0032898847
-
The clinical spectrum of sarcoglycanopathies
-
Angelini C, Fanin M, Freda MP, et al. The clinical spectrum of sarcoglycanopathies. Neurology 1999;52:176-9.
-
(1999)
Neurology
, vol.52
, pp. 176-179
-
-
Angelini, C.1
Fanin, M.2
Freda, M.P.3
-
40
-
-
0033843869
-
Early adenovirus-mediated gene transfer effectively prevents muscular dystrophy in alpha-sarcoglycan-deficient mice
-
Allamand V, Donahue KM, Straub V, et al. Early adenovirus-mediated gene transfer effectively prevents muscular dystrophy in alpha-sarcoglycan-deficient mice. Gene Ther 2000;7:1385-91.
-
(2000)
Gene Ther
, vol.7
, pp. 1385-1391
-
-
Allamand, V.1
Donahue, K.M.2
Straub, V.3
-
41
-
-
0034689207
-
Phase I clinical trial utilizing gene therapy for limb girdle muscular dystrophy: alpha-, beta-, gamma-, or delta-sarcoglycan gene delivered with intramuscular instillations of adeno-associated vectors
-
Stedman H, Wilson JM, Finke R, et al. Phase I clinical trial utilizing gene therapy for limb girdle muscular dystrophy: alpha-, beta-, gamma-, or delta-sarcoglycan gene delivered with intramuscular instillations of adeno-associated vectors. Hum Gene Ther 2000;11:777-90.
-
(2000)
Hum Gene Ther
, vol.11
, pp. 777-790
-
-
Stedman, H.1
Wilson, J.M.2
Finke, R.3
-
42
-
-
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
-
43
-
-
0035075146
-
The phenotype of calpainopathy: Diagnosis based on a multidisciplinary approach
-
Pollitt C, Anderson LVB, Pogue R, et al. The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach. Neuromuscul Disord 2001;11:287-96.
-
(2001)
Neuromuscul Disord
, vol.11
, pp. 287-296
-
-
Pollitt, C.1
Anderson, L.V.B.2
Pogue, R.3
-
44
-
-
0033596817
-
Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population
-
Chou FL, Angelini C, Daentl D, et al. Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population. Neurology 1999;52:1015-20.
-
(1999)
Neurology
, vol.52
, pp. 1015-1020
-
-
Chou, F.L.1
Angelini, C.2
Daentl, D.3
-
45
-
-
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;64:1524-40.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1524-1540
-
-
Richard, I.1
Roudaut, C.2
Saenz, A.3
-
46
-
-
0033988650
-
Molecules in focus Calpains and muscular dystrophies
-
Tidball JG, Spencer MJ. Molecules in focus Calpains and muscular dystrophies. Int J Biochem Cell Biol 2000;32:1-5.
-
(2000)
Int J Biochem Cell Biol
, vol.32
, pp. 1-5
-
-
Tidball, J.G.1
Spencer, M.J.2
-
47
-
-
0032855394
-
Making sense of the limb-girdle muscular dystrophies
-
Bushby KMD. Making sense of the limb-girdle muscular dystrophies. Brain 1999;122:1403-20.
-
(1999)
Brain
, vol.122
, pp. 1403-1420
-
-
Bushby, K.M.D.1
-
48
-
-
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. Nat Genet 1998;20:37-42.
-
(1998)
Nat Genet
, vol.20
, pp. 37-42
-
-
Bashir, R.1
Britton, S.2
Strachan, T.3
-
49
-
-
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
-
50
-
-
0035880516
-
The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle
-
Matsuda C, Hayashi YK, Ogawa M, et al. The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. Hum Mol Genet 2001;10:1761-6.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1761-1766
-
-
Matsuda, C.1
Hayashi, Y.K.2
Ogawa, M.3
-
51
-
-
0036135804
-
A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and miyoshi myopathy
-
Ho M, Gallardo E, McKenna-Yasek D, et al. A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and miyoshi myopathy. Ann Neurol 2002;51:129-32.
-
(2002)
Ann Neurol
, vol.51
, pp. 129-132
-
-
Ho, M.1
Gallardo, E.2
McKenna-Yasek, D.3
-
52
-
-
19244363787
-
Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation
-
McNally EM, Passos-Bueno MR, Bonnemann CG, et al. Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation. Am J Hum Genet 1996;59:1040-7.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1040-1047
-
-
McNally, E.M.1
Passos-Bueno, M.R.2
Bonnemann, C.G.3
-
53
-
-
0033789275
-
Evaluation of heart involvement in γ-sarcoglycanopathy (LGMD2C). A study of ten patients
-
Calvo F, Teijeira S, Fernandez JM, et al. Evaluation of heart involvement in γ-sarcoglycanopathy (LGMD2C). A study of ten patients. Neuromuscul Disord 2000;10:560-6.
-
(2000)
Neuromuscul Disord
, vol.10
, pp. 560-566
-
-
Calvo, F.1
Teijeira, S.2
Fernandez, J.M.3
-
54
-
-
0028883973
-
Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy
-
Nogauchi S, McNally EM, Ben Othmane K, et al. Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science 1995;270:819-22.
-
(1995)
Science
, vol.270
, pp. 819-822
-
-
Nogauchi, S.1
McNally, E.M.2
Ben Othmane, K.3
-
55
-
-
0035139309
-
Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies
-
Pogue R, Anderson LVB, Pyle A, et al. Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies. Neuromuscul Disord 2001;11:80-7.
-
(2001)
Neuromuscul Disord
, vol.11
, pp. 80-87
-
-
Pogue, R.1
Anderson, L.V.B.2
Pyle, A.3
-
57
-
-
0028146869
-
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
-
Roberds SL, Letureq F, Allamand V, et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 78, 1994.
-
(1994)
Cell
, pp. 78
-
-
Roberds, S.L.1
Letureq, F.2
Allamand, V.3
-
58
-
-
16944365227
-
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)
-
Carrie A, Piccolo F, Letureq F, et al. Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). J Med Genet 1997;34:470-5.
-
(1997)
J Med Genet
, vol.34
, pp. 470-475
-
-
Carrie, A.1
Piccolo, F.2
Letureq, F.3
-
59
-
-
0032005626
-
Beta-sarcoglycan: Genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate
-
Duclos F, Broux O, Bourg N, et al. Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate. Neuromuscul Disord 1998;8:30-8.
-
(1998)
Neuromuscul Disord
, vol.8
, pp. 30-38
-
-
Duclos, F.1
Broux, O.2
Bourg, N.3
-
60
-
-
0029816797
-
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F is caused by a mutation in the δ;-sarcoglycan gene
-
Nigro V, De Sa Moreira E, 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
De Sa Moreira, E.2
Piluso, G.3
-
61
-
-
8244259185
-
Identification of the Syrian hamster cardiomyopathy gene
-
Nigro V, Okazaki Y, Belsito A, et al. Identification of the Syrian hamster cardiomyopathy gene. Hum Mol Genet 1997;6:601-7.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 601-607
-
-
Nigro, V.1
Okazaki, Y.2
Belsito, A.3
-
62
-
-
0031471956
-
Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, delta-sarcoglycan, in hamster: An animal model of disrupted dystrophin-associated glycoprotein complex
-
Sakamoto A, Ono K, Abe M, et al. Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, delta-sarcoglycan, in hamster: an animal model of disrupted dystrophin-associated glycoprotein complex. Proc Natl Acad Sci USA 1997;94:1373-8.
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 1373-1378
-
-
Sakamoto, A.1
Ono, K.2
Abe, M.3
-
63
-
-
0033954004
-
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
-
Moreira ES, Wiltshire TJ, Faulkner G, et al. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nat Genet 2000;24:163-6.
-
(2000)
Nat Genet
, vol.24
, pp. 163-166
-
-
Moreira, E.S.1
Wiltshire, T.J.2
Faulkner, G.3
-
64
-
-
0031590316
-
Telethonin, a novel sarcomeric protein of heart and skeletal muscle
-
Valle G, Faulkner G, De Antoni A, et al. Telethonin, a novel sarcomeric protein of heart and skeletal muscle. FEBS Lett 1997;415:163-8.
-
(1997)
FEBS Lett
, vol.415
, pp. 163-168
-
-
Valle, G.1
Faulkner, G.2
De Antoni, A.3
-
65
-
-
0032231939
-
A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: Evidence for another limb-girdle muscular dystrophy locus
-
Weiler T, Greenberg CR, Zeleinski T, et al. A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy 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
Zeleinski, T.3
-
66
-
-
0036179479
-
Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene
-
Frosk P, Weiler T, Nylen E, et al. Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. Am J Hum Genet 2002;70:663-72.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 663-672
-
-
Frosk, P.1
Weiler, T.2
Nylen, E.3
-
67
-
-
0034214277
-
A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3
-
Driss A, Amouri R, Ben Hamida C, et al. A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3. Neuromuscul Disord 2000;10:240-6.
-
(2000)
Neuromuscul Disord
, vol.10
, pp. 240-246
-
-
Driss, A.1
Amouri, R.2
Ben Hamida, C.3
-
68
-
-
0035212037
-
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycoslyation of alpha-dystroglycan
-
Brockington M, Blake DJ, Prandini P, et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycoslyation of alpha-dystroglycan. Am J Hum Genet 2001;69:1198-209.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 1198-1209
-
-
Brockington, M.1
Blake, D.J.2
Prandini, P.3
-
69
-
-
0026320445
-
Hearing loss in facioscapulohumeral muscular dystrophy
-
Brouwer OF, Padberg GW, Ruys CJ, et al. Hearing loss in facioscapulohumeral muscular dystrophy. Neurology 1991;41:1878-81.
-
(1991)
Neurology
, vol.41
, pp. 1878-1881
-
-
Brouwer, O.F.1
Padberg, G.W.2
Ruys, C.J.3
-
70
-
-
0002129761
-
Retinal vascular disease and sensorineural deafness are part of facioscapulohumeral muscular dystrophy
-
Padberg GW, Brouwer OF, De Keizer RJW, et al. Retinal vascular disease and sensorineural deafness are part of facioscapulohumeral muscular dystrophy. Am J Hum Genet 1992;51:A104.
-
(1992)
Am J Hum Genet
, vol.51
-
-
Padberg, G.W.1
Brouwer, O.F.2
De Keizer, R.J.W.3
-
71
-
-
0026080958
-
Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization
-
Wijmenga C, Padberg GW, Moerer P, et al. Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization. Genomics 1991;9:570-5.
-
(1991)
Genomics
, vol.9
, pp. 570-575
-
-
Wijmenga, C.1
Padberg, G.W.2
Moerer, P.3
-
72
-
-
0029827344
-
Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: Implications for genetic counselling and etiology of FSHD1
-
Van Deutekom JC, Bakker E, Lemmers RJ, et al. Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1. Hum Mol Genet 1996;5:1997-2003.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1997-2003
-
-
Van Deutekom, J.C.1
Bakker, E.2
Lemmers, R.J.3
-
73
-
-
0026781017
-
Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-qter
-
Wijmenga C, Sandkuijl LA, Moerer P, et al. Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-qter. Am J Hum Genet 1992;51:411-5.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 411-415
-
-
Wijmenga, C.1
Sandkuijl, L.A.2
Moerer, P.3
-
74
-
-
0029984970
-
Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy
-
The FSH-DY group
-
Tawil R, Forrester J, Griggs RC, et al. Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY group. Ann Neurol 1996;39:744-8.
-
(1996)
Ann Neurol
, vol.39
, pp. 744-748
-
-
Tawil, R.1
Forrester, J.2
Griggs, R.C.3
-
75
-
-
0034882438
-
Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy
-
Flanigan KM, Coffeen CM, Sexton L, et al. Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy. Neuromuscul Disord 2001;11:525-9.
-
(2001)
Neuromuscul Disord
, vol.11
, pp. 525-529
-
-
Flanigan, K.M.1
Coffeen, C.M.2
Sexton, L.3
-
76
-
-
0030909143
-
Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): Validation of the differential double digestion for FSHD
-
Upadhyaya M, Maynard J, Rogers MT, et al. Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD. J Med Genet 1997;34:476-9.
-
(1997)
J Med Genet
, vol.34
, pp. 476-479
-
-
Upadhyaya, M.1
Maynard, J.2
Rogers, M.T.3
-
77
-
-
0031915927
-
Facioscapulohumeral dystrophy: A distinct regional myopathy with a novel molecular pathogenesis
-
FSH Consortium
-
Tawil R, Figlewicz DA, Griggs RC, et al. Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis. FSH Consortium. Ann Neurol 1998;43:279-82.
-
(1998)
Ann Neurol
, vol.43
, pp. 279-282
-
-
Tawil, R.1
Figlewicz, D.A.2
Griggs, R.C.3
-
78
-
-
0034213873
-
Emery-Dreifuss muscular dystrophy - A 40 year retrospective
-
Emery AE. Emery-Dreifuss muscular dystrophy - a 40 year retrospective. Neuromuscul Disord 2000;10:228-32.
-
(2000)
Neuromuscul Disord
, vol.10
, pp. 228-232
-
-
Emery, A.E.1
-
79
-
-
0010397284
-
The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein
-
Manilal S, Nguyen TM, Sewry CA, et al. The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. Hum Mol Genet 1996;5:801-8.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 801-808
-
-
Manilal, S.1
Nguyen, T.M.2
Sewry, C.A.3
-
80
-
-
0029874852
-
Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy
-
Nagano A, Koga R, Ogawa M, et al. Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. Nat Genet 1996;12:254-9.
-
(1996)
Nat Genet
, vol.12
, pp. 254-259
-
-
Nagano, A.1
Koga, R.2
Ogawa, M.3
-
81
-
-
0032977685
-
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
-
Bonne G, Di Barletta MR, Varnous S, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 1999;21:285-8.
-
(1999)
Nat Genet
, vol.21
, pp. 285-288
-
-
Bonne, G.1
Di Barletta, M.R.2
Varnous, S.3
-
82
-
-
0035100386
-
Oculopharyngeal muscular dystrophy: Phenotypic and genotypic studies in a UK population
-
Hill ME, Creed GA, McMullan TFW, et al. Oculopharyngeal muscular dystrophy: Phenotypic and genotypic studies in a UK population. Brain 2001;124:522-6.
-
(2001)
Brain
, vol.124
, pp. 522-526
-
-
Hill, M.E.1
Creed, G.A.2
McMullan, T.F.W.3
-
83
-
-
0018865908
-
Nuclear inclusions in oculopharyngeal dystrophy
-
Tome FM, Fardeau M. Nuclear inclusions in oculopharyngeal dystrophy. Acta Neuropathol 1980;49:85-7.
-
(1980)
Acta Neuropathol
, vol.49
, pp. 85-87
-
-
Tome, F.M.1
Fardeau, M.2
-
84
-
-
17344371397
-
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
-
Brais B, Bouchard JP, Xie YG, et al. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet 1998;18:164-7.
-
(1998)
Nat Genet
, vol.18
, pp. 164-167
-
-
Brais, B.1
Bouchard, J.P.2
Xie, Y.G.3
-
85
-
-
0034043493
-
Triplet repeat expansion in neuromuscular disease
-
Lieberman AP, Fischbeck KH. Triplet repeat expansion in neuromuscular disease. Muscle Nerve 2000;23:843-50.
-
(2000)
Muscle Nerve
, vol.23
, pp. 843-850
-
-
Lieberman, A.P.1
Fischbeck, K.H.2
-
86
-
-
0034703413
-
Nuclear inclustions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA
-
Calado A, Tome FM, Brais B, et al. Nuclear inclustions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA. Hum Mol Genet 2000;9:2321-8.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2321-2328
-
-
Calado, A.1
Tome, F.M.2
Brais, B.3
-
87
-
-
0002642970
-
Myotonic Dystrophy
-
Neuromuscular Diseases: From Basic Mechanisms to Clinical Management. Deymeer F (ed). Basal, Karger
-
Moxley RT, Meda G. Myotonic Dystrophy. In: Neuromuscular Diseases: From Basic Mechanisms to Clinical Management. Deymeer F (ed). Monogr Clin Neurosci. Basal, Karger, 2000, vol. 18, pp. 61-78.
-
(2000)
Monogr Clin Neurosci
, vol.18
, pp. 61-78
-
-
Moxley, R.T.1
Meda, G.2
-
88
-
-
0027940625
-
Presentation, clinical course, and outcome of the congenital form of myotonic dystrophy
-
Roig M, Balliu PR, Navarro C, et al. Presentation, clinical course, and outcome of the congenital form of myotonic dystrophy. Pediatr Neurol 1994;11:208-13.
-
(1994)
Pediatr Neurol
, vol.11
, pp. 208-213
-
-
Roig, M.1
Balliu, P.R.2
Navarro, C.3
-
89
-
-
0028213423
-
Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification
-
Turnpenny P, Clark C, Kelly K. Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification. J Med Genet 1994;31:300-5.
-
(1994)
J Med Genet
, vol.31
, pp. 300-305
-
-
Turnpenny, P.1
Clark, C.2
Kelly, K.3
-
91
-
-
0026566108
-
Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
-
Brook JD, McCurrach ME, Harley HG, et al. Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 1992;68:799-808.
-
(1992)
Cell
, vol.68
, pp. 799-808
-
-
Brook, J.D.1
McCurrach, M.E.2
Harley, H.G.3
-
92
-
-
0026598119
-
An unstable triplet repeat in a gene related to myotonic muscular dystrophy
-
Fu YH, Pizzuti A, Fenwick Jr. RG, et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992;255:1256-8.
-
(1992)
Science
, vol.255
, pp. 1256-1258
-
-
Fu, Y.H.1
Pizzuti, A.2
Fenwick R.G., Jr.3
-
93
-
-
0026603841
-
Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene
-
Mahadevan M, Tsilfidis C, Sabourin L, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 1992;255:1253-8.
-
(1992)
Science
, vol.255
, pp. 1253-1258
-
-
Mahadevan, M.1
Tsilfidis, C.2
Sabourin, L.3
-
94
-
-
0027372107
-
Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy
-
Carango P, Noble JE, Marks HG, et al. Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy. Genomics 1993;18:340-8.
-
(1993)
Genomics
, vol.18
, pp. 340-348
-
-
Carango, P.1
Noble, J.E.2
Marks, H.G.3
-
95
-
-
0035503521
-
Myotonic dystrophy - A multigene disorder
-
Larkin K, Fardaei M. Myotonic dystrophy - a multigene disorder. Brain Res Bull 2001;56:389-95.
-
(2001)
Brain Res Bull
, vol.56
, pp. 389-395
-
-
Larkin, K.1
Fardaei, M.2
-
96
-
-
0001125916
-
New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1)
-
Consortium TIMD. New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). Neurology 2000;54:1218-21.
-
(2000)
Neurology
, vol.54
, pp. 1218-1221
-
-
-
97
-
-
0002025927
-
Myotonic dystrophy as a trinucleotide repeat disorder - A clinical perspective
-
Wells RD, Warren ST (eds). San Diego, Academic Press
-
Harper PS. Myotonic dystrophy as a trinucleotide repeat disorder - A clinical perspective. In: Wells RD, Warren ST (eds). Genetic Instabilities and Hereditary Neurological Diseases. San Diego, Academic Press, 1998, pp. 115-130.
-
(1998)
Genetic Instabilities and Hereditary Neurological Diseases
, pp. 115-130
-
-
Harper, P.S.1
-
98
-
-
0027982349
-
Proximal myotonic myopathy: A new dominant disorder with myotonia, muscle weakness, and cataracts
-
Ricker K, Koch MC, Lehmann-Horn F, et al. Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology 1994;44:1448-52.
-
(1994)
Neurology
, vol.44
, pp. 1448-1452
-
-
Ricker, K.1
Koch, M.C.2
Lehmann-Horn, F.3
-
99
-
-
0032462743
-
PROMM in Italy: Clinical and biomolecular findings
-
Meola G, Sansone V, Rotondo G, et al. PROMM in Italy: clinical and biomolecular findings. Acta Myol. 1998;2:21-6.
-
(1998)
Acta Myol
, vol.2
, pp. 21-26
-
-
Meola, G.1
Sansone, V.2
Rotondo, G.3
-
100
-
-
0031000214
-
Proximal myotonic dystrophy - A family with autosomal dominant muscular dypstrophy, cataracts, hearing loss and hypogonadism: Heterogeneity of proximal myotonic syndromes?
-
Udd B, Krahe R, Wallgren-Pettersson C, et al. Proximal myotonic dystrophy - a family with autosomal dominant muscular dypstrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes? Neuromusc Disord 1997;7:217-28.
-
(1997)
Neuromusc Disord
, vol.7
, pp. 217-228
-
-
Udd, B.1
Krahe, R.2
Wallgren-Pettersson, C.3
-
101
-
-
0035800434
-
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
-
Liquori CL, Ricker K, Moseley ML, et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 2001;293:864-7.
-
(2001)
Science
, vol.293
, pp. 864-867
-
-
Liquori, C.L.1
Ricker, K.2
Moseley, M.L.3
-
102
-
-
0032995065
-
Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2)
-
Day JW, Roelofs R, Leroy B, et al. Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2). Neuromusc Disord 1999;9:19-27.
-
(1999)
Neuromusc Disord
, vol.9
, pp. 19-27
-
-
Day, J.W.1
Roelofs, R.2
Leroy, B.3
-
103
-
-
0033846806
-
Proximal myotonic myopathy: Evidence for anticipation in families with linkage to chromosome 3q
-
Schneider C, Ziegler A, Ricker K, et al. Proximal myotonic myopathy: Evidence for anticipation in families with linkage to chromosome 3q. Neurology 55, 2000.
-
(2000)
Neurology
, pp. 55
-
-
Schneider, C.1
Ziegler, A.2
Ricker, K.3
-
104
-
-
18244375299
-
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
-
Brockington M, Yuva Y, Prandini P, et al. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet 2001;10:2851-9.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2851-2859
-
-
Brockington, M.1
Yuva, Y.2
Prandini, P.3
-
105
-
-
0034795554
-
The expanding phenotype of laminin α2 chain (merosin) abnormalities: Case series and review
-
Jones KJ, Morgan G, Johnston H, et al. The expanding phenotype of laminin α2 chain (merosin) abnormalities: case series and review. J Med Genet 2001;38:649-57.
-
(2001)
J Med Genet
, vol.38
, pp. 649-657
-
-
Jones, K.J.1
Morgan, G.2
Johnston, H.3
-
106
-
-
0028232215
-
Congenital muscular dystrophy with merosin deficiency
-
Tome FM, Evangelista T, Leclerc A, et al. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci III 1994;317:351-7.
-
(1994)
C R Acad Sci III
, vol.317
, pp. 351-357
-
-
Tome, F.M.1
Evangelista, T.2
Leclerc, A.3
-
107
-
-
0028980027
-
Mutations in the laminin α2-chain gene (LAMA2) cause merosin-deficient congential muscular dystrophy
-
Helbling-Leclerc A, Zhang X, Topaloglu H, et al. Mutations in the laminin α2-chain gene (LAMA2) cause merosin-deficient congential muscular dystrophy. Nat Genet 1995;11:216-8.
-
(1995)
Nat Genet
, vol.11
, pp. 216-218
-
-
Helbling-Leclerc, A.1
Zhang, X.2
Topaloglu, H.3
-
108
-
-
0028788685
-
Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy
-
Shorer Z, Philpot J, Muntoni F, et al. Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy. J Child Neurol 1995;10:472-5.
-
(1995)
J Child Neurol
, vol.10
, pp. 472-475
-
-
Shorer, Z.1
Philpot, J.2
Muntoni, F.3
-
109
-
-
0035921981
-
An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy
-
Moll J, Barzaghi P, Lin S, et al. An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy. Nature 2001;413:302-7.
-
(2001)
Nature
, vol.413
, pp. 302-307
-
-
Moll, J.1
Barzaghi, P.2
Lin, S.3
-
110
-
-
0034162666
-
The Fukuyama congenital muscular dystrophy story
-
Toda T, Kobayashi K, Kondo-Iida E, et al. The Fukuyama congenital muscular dystrophy story. Neuromusc Disord 2000;10:153-9.
-
(2000)
Neuromusc Disord
, vol.10
, pp. 153-159
-
-
Toda, T.1
Kobayashi, K.2
Kondo-Iida, E.3
-
111
-
-
0019471880
-
Congenital muscular dystrophy of the Fukuyama type-clinical, genetic and pathological considerations
-
Fukuyama Y, Osawa M, Suzuki H. Congenital muscular dystrophy of the Fukuyama type-clinical, genetic and pathological considerations. Brain Dev 1981;3:1-29.
-
(1981)
Brain Dev
, vol.3
, pp. 1-29
-
-
Fukuyama, Y.1
Osawa, M.2
Suzuki, H.3
-
112
-
-
0032560851
-
An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy
-
Kobayashi K, Nakahori Y, Miyake M, et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 1998;394:388-92.
-
(1998)
Nature
, vol.394
, pp. 388-392
-
-
Kobayashi, K.1
Nakahori, Y.2
Miyake, M.3
-
113
-
-
0035838362
-
Selective deficiency of α-dystroglycan in Fukuyama-type congenital muscular dystrophy
-
Hayashi YK, Ogawa M, Tagawa K, et al. Selective deficiency of α-dystroglycan in Fukuyama-type congenital muscular dystrophy. Neurology 2001;57:115-21.
-
(2001)
Neurology
, vol.57
, pp. 115-121
-
-
Hayashi, Y.K.1
Ogawa, M.2
Tagawa, K.3
-
114
-
-
0035942359
-
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease
-
Cormand B, Pihko H, Bayes M, et al. Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology 2001;56:1059-69.
-
(2001)
Neurology
, vol.56
, pp. 1059-1069
-
-
Cormand, B.1
Pihko, H.2
Bayes, M.3
-
115
-
-
18044400450
-
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1
-
Yoshida A, Kobayashi K, Manya H, et al. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell 2001;1:717-24.
-
(2001)
Dev Cell
, vol.1
, pp. 717-724
-
-
Yoshida, A.1
Kobayashi, K.2
Manya, H.3
-
116
-
-
0345196592
-
Bethlem myopathy: A slowly progressive congenital muscular dystrophy with contractures
-
Jobsis GJ, Boers JM, Barth PG, et al. Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures. Brain 1999;122:649-55.
-
(1999)
Brain
, vol.122
, pp. 649-655
-
-
Jobsis, G.J.1
Boers, J.M.2
Barth, P.G.3
-
117
-
-
0010874473
-
Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations
-
In press
-
Lamande SR, Morgelins M, Selan C, et al. Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations. J Biol Chem 2001; In press.
-
(2001)
J Biol Chem
-
-
Lamande, S.R.1
Morgelins, M.2
Selan, C.3
-
118
-
-
0037176883
-
Novel mutations in collagen VI genes: Expansion of the Bethlem myopathy phenotype
-
Scacheri PC, Gillanders EM, Subramony SH, et al. Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. Neurology 2002;58:593-602.
-
(2002)
Neurology
, vol.58
, pp. 593-602
-
-
Scacheri, P.C.1
Gillanders, E.M.2
Subramony, S.H.3
-
119
-
-
0035912809
-
Ullrich sleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI
-
Vanegas OC, Bertini E, Zhang R-Z, et al. Ullrich sleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci USA 2001;98:7516-21.
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 7516-7521
-
-
Vanegas, O.C.1
Bertini, E.2
Zhang, R.-Z.3
-
120
-
-
0033971244
-
Congenital muscular dystrophy with rigid spine syndrome: A clinical, pathological, radiological and genetic study
-
Flanigan KM, Kerr L, Bromberg MB, et al. Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological and genetic study. Ann Neurol 2000;47:152-61.
-
(2000)
Ann Neurol
, vol.47
, pp. 152-161
-
-
Flanigan, K.M.1
Kerr, L.2
Bromberg, M.B.3
-
121
-
-
17944367320
-
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome
-
Moghadaszadeh B, Petit N, Jaillard C, et al. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nat Genet 2001;29:17-8.
-
(2001)
Nat Genet
, vol.29
, pp. 17-18
-
-
Moghadaszadeh, B.1
Petit, N.2
Jaillard, C.3
-
122
-
-
0024562039
-
Central core diseases: Ultrastructure of the sarcoplasmic reticulum and T-tubules
-
Hayashi K, Miller RG, Brownell AK. Central core diseases: ultrastructure of the sarcoplasmic reticulum and T-tubules. Muscle Nerve 1989;12:95-102.
-
(1989)
Muscle Nerve
, vol.12
, pp. 95-102
-
-
Hayashi, K.1
Miller, R.G.2
Brownell, A.K.3
-
123
-
-
0027250785
-
Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia
-
Quane KA, Healy JM, Keating KE, et al. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nat Genet 1993;5:51-5.
-
(1993)
Nat Genet
, vol.5
, pp. 51-55
-
-
Quane, K.A.1
Healy, J.M.2
Keating, K.E.3
-
124
-
-
0027291158
-
A mutation in the human ryanodine receptor gene associated with central core disease
-
Zhang Y, Chen HS, Khanna VK, et al. A mutation in the human ryanodine receptor gene associated with central core disease. Nat Genet 1993;5:46-50.
-
(1993)
Nat Genet
, vol.5
, pp. 46-50
-
-
Zhang, Y.1
Chen, H.S.2
Khanna, V.K.3
-
125
-
-
0032076905
-
Malignant hyperthermia and central core disease: Disorders of Ca2+ release channels
-
Loke J, MacLennan DH. Malignant hyperthermia and central core disease: disorders of Ca2+ release channels. Am J Med 1998;104:470-86.
-
(1998)
Am J Med
, vol.104
, pp. 470-486
-
-
Loke, J.1
MacLennan, D.H.2
-
126
-
-
0034087446
-
Ryanodine receptor mutations in malignant hyperthermia and central core disease
-
McCarthy TV, Quane KA, Lynch PJ. Ryanodine receptor mutations in malignant hyperthermia and central core disease. Hum Mutat 2000;15:410-7.
-
(2000)
Hum Mutat
, vol.15
, pp. 410-417
-
-
McCarthy, T.V.1
Quane, K.A.2
Lynch, P.J.3
-
127
-
-
0013865106
-
Myotubular myopathy. Persistence of fetal muscle in an adolescent boy
-
Spiro AJ, Shy GM, Gonatas NK. Myotubular myopathy. Persistence of fetal muscle in an adolescent boy. Arch Neurol 1966;14:1-14.
-
(1966)
Arch Neurol
, vol.14
, pp. 1-14
-
-
Spiro, A.J.1
Shy, G.M.2
Gonatas, N.K.3
-
128
-
-
9044222886
-
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
-
Laporte J, Hu LJ, Kretz C, et al. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet 1996;13:175-82.
-
(1996)
Nat Genet
, vol.13
, pp. 175-182
-
-
Laporte, J.1
Hu, L.J.2
Kretz, C.3
-
129
-
-
0034244437
-
Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate
-
Taylor GS, Maehama T, Dixon JE. Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate. Proc Nat Acad Sci 2000;97:8910-5.
-
(2000)
Proc Nat Acad Sci
, vol.97
, pp. 8910-8915
-
-
Taylor, G.S.1
Maehama, T.2
Dixon, J.E.3
-
130
-
-
0014785852
-
Type I muscle fibre atrophy and central nuclei: A rare familial neuromuscular disease
-
Karpati G, Carpenter S, Nelson RF. Type I muscle fibre atrophy and central nuclei: A rare familial neuromuscular disease. J Neurol Sci 1970;10:489.
-
(1970)
J Neurol Sci
, vol.10
, pp. 489
-
-
Karpati, G.1
Carpenter, S.2
Nelson, R.F.3
-
131
-
-
0033784271
-
Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy
-
Kerst B, Mennerich D, Schuelke M, et al. Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy. Neuromuscul Disord 2000;10:572-7.
-
(2000)
Neuromuscul Disord
, vol.10
, pp. 572-577
-
-
Kerst, B.1
Mennerich, D.2
Schuelke, M.3
-
132
-
-
0029023971
-
The myotubular myopathies: Differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies
-
Wallergren-Pettersson C, Clarke A, Samson F, et al. The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies. J Med Genet 1995;32:673-9.
-
(1995)
J Med Genet
, vol.32
, pp. 673-679
-
-
Wallergren-Pettersson, C.1
Clarke, A.2
Samson, F.3
-
133
-
-
0034906020
-
Clinical and genetic heterogeneity in nemaline myopathy - A disease of skeletal muscle thin filaments
-
Sanoudou D, Beggs AH. Clinical and genetic heterogeneity in nemaline myopathy-a disease of skeletal muscle thin filaments. Trends Mol Med 2001;7:362-8.
-
(2001)
Trends Mol Med
, vol.7
, pp. 362-368
-
-
Sanoudou, D.1
Beggs, A.H.2
-
134
-
-
0034848843
-
Nemaline myopathy: A clinical study of 143 cases
-
Ryan MM, Schnell C, Strickland CD, et al. Nemaline myopathy: a clinical study of 143 cases. Ann Neurol 2001;50:312-20.
-
(2001)
Ann Neurol
, vol.50
, pp. 312-320
-
-
Ryan, M.M.1
Schnell, C.2
Strickland, C.D.3
-
135
-
-
0034213947
-
Report of the 70th ENMC International Workshop: Nemaline myopathy, 11-13 June 1999, Naarden. The Netherlands
-
Wallgren-Pettersson C, Laing NG. Report of the 70th ENMC International Workshop: nemaline myopathy, 11-13 June 1999, Naarden. The Netherlands. Neuromuscul Disord 2000;10:299-306.
-
(2000)
Neuromuscul Disord
, vol.10
, pp. 299-306
-
-
Wallgren-Pettersson, C.1
Laing, N.G.2
-
136
-
-
0028852835
-
A mutation in the alpha-tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1
-
Laing NG, Wilton SD, Akkari PA, et al. A mutation in the alpha-tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1. Nat Genet 1995;9:75-9.
-
(1995)
Nat Genet
, vol.9
, pp. 75-79
-
-
Laing, N.G.1
Wilton, S.D.2
Akkari, P.A.3
-
137
-
-
13044312720
-
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
-
Pelin K, Hilpela P, Donner K, et al. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci USA 1999;96:2305-10.
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 2305-2310
-
-
Pelin, K.1
Hilpela, P.2
Donner, K.3
-
138
-
-
0032858915
-
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy
-
Nowak KJ, Wattanasirichaigoon D, Goebel HH, et al. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet 1999;23:208-12.
-
(1999)
Nat Genet
, vol.23
, pp. 208-212
-
-
Nowak, K.J.1
Wattanasirichaigoon, D.2
Goebel, H.H.3
-
139
-
-
0001661334
-
Mutations in the β-Tropomyosin (TPM2) gene in rare cases of autosomal dominant nemaline myopathy
-
Donner K, Ollikainen M, Pelin K, et al. Mutations in the β-Tropomyosin (TPM2) gene in rare cases of autosomal dominant nemaline myopathy. Neuromusc Disord 2000;10:342-3.
-
(2000)
Neuromusc Disord
, vol.10
, pp. 342-343
-
-
Donner, K.1
Ollikainen, M.2
Pelin, K.3
-
140
-
-
0033799745
-
A novel nemaline myopathy in the Amish caused by a mutation in troponin TI
-
Johnston JJ, Kelley RI, Crawford TO, et al. A novel nemaline myopathy in the Amish caused by a mutation in troponin TI. Am J Hum Genet 2000;67:814-21.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 814-821
-
-
Johnston, J.J.1
Kelley, R.I.2
Crawford, T.O.3
-
141
-
-
0003132648
-
Myopathia distalis tarda hereditaria
-
Welander L. Myopathia distalis tarda hereditaria. Acta Med Scand 1951;141:1-24.
-
(1951)
Acta Med Scand
, vol.141
, pp. 1-24
-
-
Welander, L.1
-
142
-
-
0031901171
-
Overview of distal myopathies: From the clinical to the molecular
-
Barohn RJ, Amato AA, Griggs RC. Overview of distal myopathies: from the clinical to the molecular. Neuromuscul Disord 1998;8:309-16.
-
(1998)
Neuromuscul Disord
, vol.8
, pp. 309-316
-
-
Barohn, R.J.1
Amato, A.A.2
Griggs, R.C.3
-
143
-
-
0032880011
-
Genetic linkage of Welander distal myopathyto chromosome 2p 13
-
Ahlberg G, von Tell D, Borg K, et al. Genetic linkage of Welander distal myopathyto chromosome 2p 13. Ann Neurol 1999;46:399-404.
-
(1999)
Ann Neurol
, vol.46
, pp. 399-404
-
-
Ahlberg, G.1
Von Tell, D.2
Borg, K.3
-
144
-
-
0001566888
-
Tibial muscular dystrophy and late-onset distal myopathy are linked to the same locus on chromosome 2q
-
Haravuori H, Mskels-Bengs P, Figlewicz DA, et al. Tibial muscular dystrophy and late-onset distal myopathy are linked to the same locus on chromosome 2q. Neurology 1998;50:A186.
-
(1998)
Neurology
, vol.50
-
-
Haravuori, H.1
Mskels-Bengs, P.2
Figlewicz, D.A.3
-
145
-
-
0035707910
-
The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin
-
Garvey SM, Chandrika R, Lerner AP, et al. The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin. Genomic 2002;79:146-9.
-
(2002)
Genomic
, vol.79
, pp. 146-149
-
-
Garvey, S.M.1
Chandrika, R.2
Lerner, A.P.3
-
146
-
-
0035836751
-
Secondary calpain3 deficiency in 2q-linked muscular dystrophy: Titin is the candidate gene
-
Haravuori H, Vihoa A, Straub V, et al. Secondary calpain3 deficiency in 2q-linked muscular dystrophy: Titin is the candidate gene. Neurology 2001;56:869-77.
-
(2001)
Neurology
, vol.56
, pp. 869-877
-
-
Haravuori, H.1
Vihoa, A.2
Straub, V.3
-
148
-
-
17944366749
-
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy
-
Eisenberg I, Avidan N, Potikha T, et al. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet 2001;29:83-7.
-
(2001)
Nat Genet
, vol.29
, pp. 83-87
-
-
Eisenberg, I.1
Avidan, N.2
Potikha, T.3
-
149
-
-
0036217154
-
Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)
-
Kayashima T, Matsuo H, Satoh A, et al. Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). J Hum Genet 2002;47:77-9.
-
(2002)
J Hum Genet
, vol.47
, pp. 77-79
-
-
Kayashima, T.1
Matsuo, H.2
Satoh, A.3
-
150
-
-
0033377221
-
Distal myopathies
-
Nonaka I. Distal myopathies. Curr Opin Neurol 1999;12:493-9.
-
(1999)
Curr Opin Neurol
, vol.12
, pp. 493-499
-
-
Nonaka, I.1
-
151
-
-
0024537024
-
Distal myopathy with rimmed vacuole formation. A follow-up study
-
Sunohara N, Nonaka I, Kamei N, et al. Distal myopathy with rimmed vacuole formation. A follow-up study. Brain 1989;112:65-83.
-
(1989)
Brain
, vol.112
, pp. 65-83
-
-
Sunohara, N.1
Nonaka, I.2
Kamei, N.3
-
152
-
-
0035144844
-
Autosomal dominant distal myopathy: Further evidence of a chromosome 14 locus
-
Voit T, Kutz P, Leube B, et al. Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus. Neuromusc Disord 2001;11-9.
-
(2001)
Neuromusc Disord
, pp. 11-19
-
-
Voit, T.1
Kutz, P.2
Leube, B.3
-
153
-
-
0029875349
-
Myofibrillary myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases
-
Nakano S, Engel AG, Waclwik AJ, et al. Myofibrillary myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases. J Neuropathol Exp Pathol 1996;55:549-62.
-
(1996)
J Neuropathol Exp Pathol
, vol.55
, pp. 549-562
-
-
Nakano, S.1
Engel, A.G.2
Waclwik, A.J.3
-
154
-
-
0018068469
-
A new familial muscular disorder demonstrated by the intra-sarcoplasmic accumulation of a granulo-filamentous material which is dense on electron microscopy
-
Fardeau M, Godet-Guillain J, Tome FM, et al. [A new familial muscular disorder demonstrated by the intra-sarcoplasmic accumulation of a granulo-filamentous material which is dense on electron microscopy]. Rev Neurol (Paris) 1978;134:411-25.
-
(1978)
Rev Neurol (Paris)
, vol.134
, pp. 411-425
-
-
Fardeau, M.1
Godet-Guillain, J.2
Tome, F.M.3
-
155
-
-
0034839862
-
Desmin-related myopathies in mice and man
-
Carlsson L, Thornell LE. Desmin-related myopathies in mice and man. Acta Physiol Scand 2001;171:341-8.
-
(2001)
Acta Physiol Scand
, vol.171
, pp. 341-348
-
-
Carlsson, L.1
Thornell, L.E.2
-
156
-
-
17344361902
-
A missense mutation in the αβ-crystallin chaperone gene causes a desmin-related myopathy
-
Vicart P, Caron A, Guicheney P, et al. A missense mutation in the αβ-crystallin chaperone gene causes a desmin-related myopathy. Nat Genet 1998;20:92-5.
-
(1998)
Nat Genet
, vol.20
, pp. 92-95
-
-
Vicart, P.1
Caron, A.2
Guicheney, P.3
-
157
-
-
17344373157
-
Missense mutations in desmin associated with familial cardiac and skeletal myopathy
-
Goldfarb LG, Park KY, Cervenakova L, et al. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet 1998;19:402-3.
-
(1998)
Nat Genet
, vol.19
, pp. 402-403
-
-
Goldfarb, L.G.1
Park, K.Y.2
Cervenakova, L.3
-
158
-
-
0034673647
-
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene
-
Dalakas MC, Park KY, Semino-Mora C, et al. Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. N Engl J Med 2000;342:770-80.
-
(2000)
N Engl J Med
, vol.342
, pp. 770-780
-
-
Dalakas, M.C.1
Park, K.Y.2
Semino-Mora, C.3
|