-
1
-
-
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: 309-316
-
(1998)
Neuromuscul Disord
, vol.8
, pp. 309-316
-
-
Barohn, R.J.1
Amato, A.A.2
Griggs, R.C.3
-
2
-
-
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, Keers S, Vafiadaki E, Lako M, 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
Keers, S.4
Vafiadaki, E.5
Lako, M.6
-
3
-
-
23744502938
-
Subclinical semitendinosus and obturator externus involvement defines an autosomal dominant myopathy with early respiratory failure
-
Birchall D, von der Hagen M, Bates D, Bushby KM, Chinnery PF. Subclinical semitendinosus and obturator externus involvement defines an autosomal dominant myopathy with early respiratory failure. Neuromuscul Disord 2005; 15: 595-600.
-
(2005)
Neuromuscul Disord
, vol.15
, pp. 595-600
-
-
Birchall, D.1
Von Der Hagen, M.2
Bates, D.3
Bushby, K.M.4
Chinnery, P.F.5
-
4
-
-
73149123343
-
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
-
Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci USA 2009; 106: 19096-101.
-
(2009)
Proc Natl Acad Sci USA
, vol.106
, pp. 19096-19101
-
-
Choi, M.1
Scholl, U.I.2
Ji, W.3
Liu, T.4
Tikhonova, I.R.5
Zumbo, P.6
-
5
-
-
77954359968
-
Kelch-like homolog 9 mutation is associated with an early onset autosomal dominant distal myopathy
-
Cirak S, von Deimling F, Sachdev S, Errington WJ, Herrmann R, Bö nnemann C, et al. Kelch-like homolog 9 mutation is associated with an early onset autosomal dominant distal myopathy. Brain 2010; 133: 2123-2135
-
(2010)
Brain
, vol.133
, pp. 2123-2135
-
-
Cirak, S.1
Von Deimling, F.2
Sachdev, S.3
Errington, W.J.4
Herrmann, R.5
Bönnemann, C.6
-
6
-
-
54049133776
-
Distinct muscle imaging patterns in myofibrillar myopathies
-
Fischer D, Kley RA, Strach K, Meyer C, Sommer T, Eger K, et al. Distinct muscle imaging patterns in myofibrillar myopathies. Neurology 2008; 71: 758-765
-
(2008)
Neurology
, vol.71
, pp. 758-765
-
-
Fischer, D.1
Kley, R.A.2
Strach, K.3
Meyer, C.4
Sommer, T.5
Eger, K.6
-
7
-
-
20044372006
-
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs
-
Fischer D, Walter MC, Kesper K, Petersen JA, Aurino S, Nigro V, et al. Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. J Neurol 2005; 252: 538-547
-
(2005)
J Neurol
, vol.252
, pp. 538-547
-
-
Fischer, D.1
Walter, M.C.2
Kesper, K.3
Petersen, J.A.4
Aurino, S.5
Nigro, V.6
-
8
-
-
84965220279
-
A lecture on myopathy and a distal form
-
Gowers WR. A lecture on myopathy and a distal form. Br Med J 1902; 2: 89-92.
-
(1902)
Br Med J
, vol.2
, pp. 89-92
-
-
Gowers, W.R.1
-
9
-
-
34250861423
-
Zaspopathy in a large classic late-onset distal myopathy family
-
Griggs R, Vihola A, Hackman P, Talvinen K, Haravuori H, Faulkner G, et al. Zaspopathy in a large classic late-onset distal myopathy family. Brain 2007; 130: 1477-1484
-
(2007)
Brain
, vol.130
, pp. 1477-1484
-
-
Griggs, R.1
Vihola, A.2
Hackman, P.3
Talvinen, K.4
Haravuori, H.5
Faulkner, G.6
-
10
-
-
20644440418
-
The kinase domain of titin controls muscle gene expression and protein turnover
-
Lange S, Xiang F, Yakovenko A, Vihola A, Hackman P, Rostkova E, et al. The kinase domain of titin controls muscle gene expression and protein turnover. Science 2005; 308: 1599-1603
-
(2005)
Science
, vol.308
, pp. 1599-1603
-
-
Lange, S.1
Xiang, F.2
Yakovenko, A.3
Vihola, A.4
Hackman, P.5
Rostkova, E.6
-
11
-
-
0034687697
-
Autosomal dominant myopathy: Missense mutation (Glu-7064Lys) in the myosin heavy chain IIa gene
-
Martinsson T, Oldfors A, Darin N, Berg K, Tajsharghi H, Kyllerman M, et al. Autosomal dominant myopathy: missense mutation (Glu-7064Lys) in the myosin heavy chain IIa gene. Proc Natl Acad Sci USA 2000; 97: 14614-14619
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 14614-14619
-
-
Martinsson, T.1
Oldfors, A.2
Darin, N.3
Berg, K.4
Tajsharghi, H.5
Kyllerman, M.6
-
12
-
-
4544374719
-
Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing early-onset distal myopathy (MPD1)
-
Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, et al. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing early-onset distal myopathy (MPD1). Am J Hum Genet 2004; 75: 703-708
-
(2004)
Am J Hum Genet
, vol.75
, pp. 703-708
-
-
Meredith, C.1
Herrmann, R.2
Parry, C.3
Liyanage, K.4
Dye, D.E.5
Durling, H.J.6
-
13
-
-
73349110071
-
Exome sequencing identifies the cause of a mendelian disorder
-
Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, et al. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 2010; 42: 30-35
-
Nat Genet
, vol.2010
, Issue.42
, pp. 30-35
-
-
Ng, S.B.1
Buckingham, K.J.2
Lee, C.3
Bigham, A.W.4
Tabor, H.K.5
Dent, K.M.6
-
14
-
-
70249111091
-
Targeted capture and massively parallel sequencing of 12 human exomes
-
Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 2009; 461: 272-276
-
(2009)
Nature
, vol.461
, pp. 272-276
-
-
Ng, S.B.1
Turner, E.H.2
Robertson, P.D.3
Flygare, S.D.4
Bigham, A.W.5
Lee, C.6
-
15
-
-
77951921511
-
Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations
-
Tajsharghi H, Hilton-Jones D, Raheem O, Saukkonen AM, Oldfors A, Udd B. Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations. Brain 2010; 133: 1451-1459
-
Brain
, vol.2010
, Issue.133
, pp. 1451-1459
-
-
Tajsharghi, H.1
Hilton-Jones, D.2
Raheem, O.3
Saukkonen, A.M.4
Oldfors, A.5
Udd, B.6
-
16
-
-
67349219669
-
165th European Neuromuscular Centre (ENMC) International Workshop: Distal myopathies 6-8th February 2009 Naarden, the Netherlands
-
Udd B. 165th European Neuromuscular Centre (ENMC) International Workshop: distal myopathies, 6-8th February 2009 Naarden, The Netherlands. Neuromuscul Disord 2009; 19: 429-438
-
(2009)
Neuromuscul Disord
, vol.19
, pp. 429-438
-
-
Udd, B.1
|