-
2
-
-
0003132648
-
Myopathia distalis tarda hereditaria
-
Welander L. Myopathia distalis tarda hereditaria. Acta Med Scand. 141:1951;1-124.
-
(1951)
Acta Med Scand
, vol.141
, pp. 1-124
-
-
Welander, L.1
-
3
-
-
0036315171
-
Welander distal myopathy outside the Swedish population: Phenotype and genotype
-
von Tell D., Somer H., Udd B., Edström L., Borg K., Åhlberg G. Welander distal myopathy outside the Swedish population: phenotype and genotype. Neuromuscul Disord. 12:2002;544-547.
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 544-547
-
-
Von Tell, D.1
Somer, H.2
Udd, B.3
Edström, L.4
Borg, K.5
Åhlberg, G.6
-
4
-
-
0032880011
-
Genetic linkage of Welander distal myopathy to chromosome 2p13
-
Åhlberg G., von Tell D., Borg K., Edström L., Anvret M. Genetic linkage of Welander distal myopathy to chromosome 2p13. Ann Neurol. 46:1999;399-404.
-
(1999)
Ann Neurol
, vol.46
, pp. 399-404
-
-
Åhlberg, G.1
Von Tell, D.2
Borg, K.3
Edström, L.4
Anvret, M.5
-
5
-
-
1242267012
-
Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients
-
Udd B., Partanen J., Halonen P., et al. Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients. Arch Neurol. 54:2003;248-251.
-
(2003)
Arch Neurol
, vol.54
, pp. 248-251
-
-
Udd, B.1
Partanen, J.2
Halonen, P.3
-
6
-
-
0036723943
-
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin
-
Hackman P., Vihola A., Haravuori H., et al. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet. 71:2002;492-500.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 492-500
-
-
Hackman, P.1
Vihola, A.2
Haravuori, H.3
-
8
-
-
0038691948
-
A distinct phenotype of distal myopathy in a large Finnish family
-
Mahjneh I., Haravuori H., Paetau A., et al. A distinct phenotype of distal myopathy in a large Finnish family. Neurology. 61:2003;87-92.
-
(2003)
Neurology
, vol.61
, pp. 87-92
-
-
Mahjneh, I.1
Haravuori, H.2
Paetau, A.3
-
9
-
-
0032231877
-
Comprehensive human genetic maps: Individual and sex-specific variation in recombination
-
Broman K.W., Murray J.C., Sheffield V.C., White R.L., Weber J.L. Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am J Hum Genet. 63:1998;861-869.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 861-869
-
-
Broman, K.W.1
Murray, J.C.2
Sheffield, V.C.3
White, R.L.4
Weber, J.L.5
-
10
-
-
0021344005
-
Easy calculations of LOD scores and genetic risks on small computers
-
Lathrop G.M., Lalouel J.M. Easy calculations of LOD scores and genetic risks on small computers. Am J Hum Genet. 36:1984;460-465.
-
(1984)
Am J Hum Genet
, vol.36
, pp. 460-465
-
-
Lathrop, G.M.1
Lalouel, J.M.2
-
13
-
-
0039513062
-
Computer-simulation methods in human linkage analysis
-
Ott J. Computer-simulation methods in human linkage analysis. Proc Natl Acad Sci USA. 86:1989;4175-4178.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 4175-4178
-
-
Ott, J.1
-
14
-
-
0000801438
-
SLINK: A general simulation program for linkage analysis
-
(supplement)
-
Weeks D.E., Ott J., Lathrop G.M. SLINK: a general simulation program for linkage analysis. Am J Hum Genet. 47:1990;A203. (supplement).
-
(1990)
Am J Hum Genet
, vol.47
, pp. 203
-
-
Weeks, D.E.1
Ott, J.2
Lathrop, G.M.3
-
15
-
-
0029886532
-
Parametric and nonparametric linkage analysis: A unified multipoint approach
-
Kruglyak L., Daly M.J., Reeve-Daly M.P., Lander E.S. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet. 58:1996;1347-1363.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1347-1363
-
-
Kruglyak, L.1
Daly, M.J.2
Reeve-Daly, M.P.3
Lander, E.S.4
-
16
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
Initial sequencing and analysis of the human genome. Nature. 409:2001;860-921.
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
-
17
-
-
0025165212
-
Characterization of human myosin light chains 1sa and 3nm: Implications for isoform evolution and function
-
Hailstones D.L., Gunning P.W. Characterization of human myosin light chains 1sa and 3nm: implications for isoform evolution and function. Mol Cell Biol. 10:1990;1095-1104.
-
(1990)
Mol Cell Biol
, vol.10
, pp. 1095-1104
-
-
Hailstones, D.L.1
Gunning, P.W.2
-
18
-
-
0037455559
-
Binding of an ankyrin-1 isoform to obscurin suggests a molecular link between the sarcoplasmic reticulum and myofibrils in striated muscles
-
Bagnato P., Barone V., Giacomello E., Rossi D., Sorrentino V. Binding of an ankyrin-1 isoform to obscurin suggests a molecular link between the sarcoplasmic reticulum and myofibrils in striated muscles. J Cell Biol. 160:2003;245-253.
-
(2003)
J Cell Biol
, vol.160
, pp. 245-253
-
-
Bagnato, P.1
Barone, V.2
Giacomello, E.3
Rossi, D.4
Sorrentino, V.5
-
20
-
-
0037423366
-
The hydrophilic domain of small ankyrin-1 interacts with the two N-terminal immunoglobulin domains of titin
-
Kontrogianni-Konstantopoulos A., Bloch R.J. The hydrophilic domain of small ankyrin-1 interacts with the two N-terminal immunoglobulin domains of titin. J Biol Chem. 278:2003;3985-3991.
-
(2003)
J Biol Chem
, vol.278
, pp. 3985-3991
-
-
Kontrogianni-Konstantopoulos, A.1
Bloch, R.J.2
-
21
-
-
0032869123
-
Molecular genetics of the Finnish disease heritage
-
Peltonen L., Jalanko A., Varilo T. Molecular genetics of the Finnish disease heritage. Hum Mol Genet. 8:1999;1913-1923.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1913-1923
-
-
Peltonen, L.1
Jalanko, A.2
Varilo, T.3
-
22
-
-
0032960552
-
Autosomal dominant distal myopathy not linked to the known distal myopathy loci
-
Felice K.J., Meredith C., Binz N., et al. Autosomal dominant distal myopathy not linked to the known distal myopathy loci. Neuromuscul Disord. 9:1999;59-65.
-
(1999)
Neuromuscul Disord
, vol.9
, pp. 59-65
-
-
Felice, K.J.1
Meredith, C.2
Binz, N.3
-
23
-
-
0014979025
-
Distal muscular dystrophy in an English family
-
Sumner D., Crawfurd M.D., Harriman D.G. Distal muscular dystrophy in an English family. Brain. 94:1971;51-60.
-
(1971)
Brain
, vol.94
, pp. 51-60
-
-
Sumner, D.1
Crawfurd, M.D.2
Harriman, D.G.3
-
24
-
-
0032191687
-
Autosomal dominant late adult onset distal leg myopathy
-
Penisson-Besnier I., Dumez C., Chateau D., Dubas F., Fardeau M. Autosomal dominant late adult onset distal leg myopathy. Neuromuscul Disord. 8:1998;459-466.
-
(1998)
Neuromuscul Disord
, vol.8
, pp. 459-466
-
-
Penisson-Besnier, I.1
Dumez, C.2
Chateau, D.3
Dubas, F.4
Fardeau, M.5
-
25
-
-
0035068226
-
A novel autosomal dominant distal myopathy with early respiratory failure: Clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci
-
Chinnery P.F., Johnson M.A., Walls T.J., et al. A novel autosomal dominant distal myopathy with early respiratory failure: clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci. Ann Neurol. 49:2001;443-452.
-
(2001)
Ann Neurol
, vol.49
, pp. 443-452
-
-
Chinnery, P.F.1
Johnson, M.A.2
Walls, T.J.3
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