-
1
-
-
0000114741
-
Distal myopathies
-
Engel AG, Franzini-Armstrong C, editors New York: McGraw-Hill
-
Griggs RC, Markesbery WR. Distal myopathies. In: Engel AG, Franzini-Armstrong C, editors. Myology: basic and clinical. New York: McGraw-Hill, 1994:1246-1257.
-
(1994)
Myology: Basic and Clinical
, pp. 1246-1257
-
-
Griggs, R.C.1
Markesbery, W.R.2
-
2
-
-
0027378840
-
Distal myopathies and dystrophies
-
Barohn RJ. Distal myopathies and dystrophies. Semin Neurol 1993;13:247-255.
-
(1993)
Semin Neurol
, vol.13
, pp. 247-255
-
-
Barohn, R.J.1
-
3
-
-
0028813434
-
Autosomal dominant distal myopathy: Linkage to chromosome 14
-
Laing NG, Laing BA, Meredith C. et al. Autosomal dominant distal myopathy: linkage to chromosome 14. Am J Genet 1995;56:422-427.
-
(1995)
Am J Genet
, vol.56
, pp. 422-427
-
-
Laing, N.G.1
Laing, B.A.2
Meredith, C.3
-
4
-
-
0029886532
-
Parametric and nonparametric linkage analysis: A unified multipoint approach
-
Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 1996;58:1347-1363.
-
(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
-
5
-
-
0028231090
-
The 1993-94 Genethon human genetic linkage map
-
Gyapay G, Morisette J, Vignal A. et al. The 1993-94 Genethon human genetic linkage map. Nat Genet 1994;7:246-339.
-
(1994)
Nat Genet
, vol.7
, pp. 246-339
-
-
Gyapay, G.1
Morisette, J.2
Vignal, A.3
-
6
-
-
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;3:455-457.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 455-457
-
-
Bashir, R.1
Strachan, T.2
Keers, S.3
-
7
-
-
76949122075
-
Myopathia distalis tarda hereditaria
-
Welander L. Myopathia distalis tarda hereditaria. Acta Med Scand 1951;141 (S265):1-124.
-
(1951)
Acta Med Scand
, vol.141
, Issue.S265
, pp. 1-124
-
-
Welander, L.1
-
8
-
-
0025770238
-
Welander's distal myopathy: Clinical, neurophysiological and muscle biopsy observations in young and middle aged adults with early symptoms
-
Borg K, Ahlberg G, Borg J, Edstrom L. Welander's distal myopathy: clinical, neurophysiological and muscle biopsy observations in young and middle aged adults with early symptoms. J Neurol Neurosurg Psychiatry 1991;54:494-498.
-
(1991)
J Neurol Neurosurg Psychiatry
, vol.54
, pp. 494-498
-
-
Borg, K.1
Ahlberg, G.2
Borg, J.3
Edstrom, L.4
-
9
-
-
0030924321
-
Welander distal myopathy is not linked to other defined distal myopathy loci
-
Ahlberg G, Borg K, Edstrom L, Anvret M. Welander distal myopathy is not linked to other defined distal myopathy loci. Neuromusc Disord 1997;7:256-260.
-
(1997)
Neuromusc Disord
, vol.7
, pp. 256-260
-
-
Ahlberg, G.1
Borg, K.2
Edstrom, L.3
Anvret, M.4
-
11
-
-
0001566888
-
Tibial muscular dystrophy and late-onset distal myopathy are linked to the same locus on chromosome 2q
-
Haravuori H, Makela-Benga 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
Makela-Benga, P.2
Figlewicz, D.A.3
-
12
-
-
0027278526
-
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 1993;50:604-608.
-
(1993)
Arch Neurol
, vol.50
, pp. 604-608
-
-
Udd, B.1
Partanen, J.2
Halonen, P.3
-
13
-
-
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;62:620-626.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 620-626
-
-
Haravuori, H.1
Makela-Bengs, P.2
Udd, B.3
-
14
-
-
0026777275
-
Limb-girdle type muscular dystrophy in a large family with distal myopathy: Homozygous manifestation of a dominant acne
-
Udd B. Limb-girdle type muscular dystrophy in a large family with distal myopathy: homozygous manifestation of a dominant acne. J Med Genet 1992;29:383-389.
-
(1992)
J Med Genet
, vol.29
, pp. 383-389
-
-
Udd, B.1
-
15
-
-
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;45:768-772.
-
(1995)
Neurology
, vol.45
, pp. 768-772
-
-
Bejaoui, K.1
Hirabayashi, K.2
Hentati, F.3
-
16
-
-
12644258539
-
Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy
-
Bulayeva K, Tsuji S. Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy. Brain 1996;119:1895-1909.
-
(1996)
Brain
, vol.119
, pp. 1895-1909
-
-
Bulayeva, K.1
Tsuji, S.2
-
17
-
-
0031172187
-
Refined genetic location of the chromosome 2p-linked progressive muscular dystrophy gene
-
Illarioshkin S, Ivanovasmolenskaya I, Tanaka H. et al. Refined genetic location of the chromosome 2p-linked progressive muscular dystrophy gene. Genomics 1997;42:345-348.
-
(1997)
Genomics
, vol.42
, pp. 345-348
-
-
Illarioshkin, S.1
Ivanovasmolenskaya, I.2
Tanaka, H.3
-
18
-
-
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;20:31-36.
-
(1998)
Nat Genet
, vol.20
, pp. 31-36
-
-
Liu, J.1
Aoki, M.2
Illa, I.3
-
19
-
-
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;59:872-878.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 872-878
-
-
Weiler, T.1
Greenberg, C.R.2
Nylen, E.3
-
20
-
-
0019481203
-
Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation
-
Nonaka I, Sunohara N, Ishiura S, Satoyoshi E. Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. J Neurol Sci 1981;51:141-155.
-
(1981)
J Neurol Sci
, vol.51
, pp. 141-155
-
-
Nonaka, I.1
Sunohara, N.2
Ishiura, S.3
Satoyoshi, E.4
-
21
-
-
0030933296
-
Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9
-
Ikeuchi T, Asaka T, Saito M. et al. Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9. Ann Neurol 1997;41:432-437.
-
(1997)
Ann Neurol
, vol.41
, pp. 432-437
-
-
Ikeuchi, T.1
Asaka, T.2
Saito, M.3
-
22
-
-
0001765134
-
Hereditary distal myopathy with onset in infancy
-
Magee KR, DeJong RN. Hereditary distal myopathy with onset in infancy. Arch Neurol 1965;13:387-390.
-
(1965)
Arch Neurol
, vol.13
, pp. 387-390
-
-
Magee, K.R.1
DeJong, R.N.2
-
23
-
-
0028120746
-
Autosomal dominant distal myopathy with desmin storage: A clinicopathologic and electrophysiologic study of a large kinship
-
Horowitz SH, Schmalbruch H. Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship. Muscle Nerve 1994;17:151-160.
-
(1994)
Muscle Nerve
, vol.17
, pp. 151-160
-
-
Horowitz, S.H.1
Schmalbruch, H.2
-
24
-
-
0030063986
-
Hereditary inclusion body myopathy maps to chromosome 9p1-q1
-
Mitrani-Rosenbaum S, Argov Z, Blumenfeld A. et al. Hereditary inclusion body myopathy maps to chromosome 9p1-q1. Hum Mol Genet 1996;5:159-163.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 159-163
-
-
Mitrani-Rosenbaum, S.1
Argov, Z.2
Blumenfeld, A.3
-
25
-
-
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
-
26
-
-
0001566889
-
Distal anterior compartment myopathy: A new severe dystrophic phenotype linked to chromosome 2p13
-
Illa I, Serrano C, Gallardo E. et al. Distal anterior compartment myopathy: a new severe dystrophic phenotype linked to chromosome 2p13. Neurology 1998;50:A186.
-
(1998)
Neurology
, vol.50
-
-
Illa, I.1
Serrano, C.2
Gallardo, E.3
|