-
1
-
-
4344666094
-
A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2
-
Bonifazi E, Vallo L, Giardina E, Botta A, Novelli G. A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2. Diagn Mol Pathol 2004;13:164-166.
-
(2004)
Diagn Mol Pathol
, vol.13
, pp. 164-166
-
-
Bonifazi, E.1
Vallo, L.2
Giardina, E.3
Botta, A.4
Novelli, G.5
-
2
-
-
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, Buckler AJ, Church D, Aburatani H, 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
Buckler, A.J.4
Church, D.5
Aburatani, H.6
-
3
-
-
0014493654
-
The histographic analysis of human muscle biopsies with regard to fiber types. 2. Diseases of the upper and lower motor neuron
-
Brooke MH, Engel WK. The histographic analysis of human muscle biopsies with regard to fiber types. 2. Diseases of the upper and lower motor neuron. Neurology 1969;19:378-393.
-
(1969)
Neurology
, vol.19
, pp. 378-393
-
-
Brooke, M.H.1
Engel, W.K.2
-
4
-
-
0037465516
-
Myotonic dystrophy type 2: Molecular, diagnostic and clinical spectrum
-
Day JW, Ricker K, Jacobsen JF, Rasmussen LJ, Dick KA, Kress W, et al. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology 2003;60:657-664.
-
(2003)
Neurology
, vol.60
, pp. 657-664
-
-
Day, J.W.1
Ricker, K.2
Jacobsen, J.F.3
Rasmussen, L.J.4
Dick, K.A.5
Kress, W.6
-
5
-
-
0345505665
-
Changes in myotonic dystrophy protein kinase levels and muscle development in congenital myotonic dystrophy
-
Furling D, Lam le T, Agbulut O, Butler-Browne GS, Morris GE. Changes in myotonic dystrophy protein kinase levels and muscle development in congenital myotonic dystrophy. Am J Pathol 2003;162:1001-1009.
-
(2003)
Am J Pathol
, vol.162
, pp. 1001-1009
-
-
Furling, D.1
Lam le, T.2
Agbulut, O.3
Butler-Browne, G.S.4
Morris, G.E.5
-
6
-
-
0015547811
-
Data on the distribution of fibre types in thirty-six human muscles. An autopsy study
-
Johnson MA, Polgar J, Weightman D, Appleton D. Data on the distribution of fibre types in thirty-six human muscles. An autopsy study. J Neurol Sci 1973;18:111-129.
-
(1973)
J Neurol Sci
, vol.18
, pp. 111-129
-
-
Johnson, M.A.1
Polgar, J.2
Weightman, D.3
Appleton, D.4
-
7
-
-
26444444738
-
Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1
-
Kimura T, Nakamori M, Lueck JD, Pouliquin P, Aoike F, Fujimura H, et al. Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1. Hum Mol Genet 2005;14:2189-2200.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 2189-2200
-
-
Kimura, T.1
Nakamori, M.2
Lueck, J.D.3
Pouliquin, P.4
Aoike, F.5
Fujimura, H.6
-
8
-
-
0035800434
-
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
-
Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 2001;293:864-867.
-
(2001)
Science
, vol.293
, pp. 864-867
-
-
Liquori, C.L.1
Ricker, K.2
Moseley, M.L.3
Jacobsen, J.F.4
Kress, W.5
Naylor, S.L.6
-
9
-
-
19544393908
-
Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2
-
Merlini L, Sabatelli P, Columbaro M, Bonifazi E, Pisani V, Massa R, et al. Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2. Muscle Nerve 2005;31:764-767.
-
(2005)
Muscle Nerve
, vol.31
, pp. 764-767
-
-
Merlini, L.1
Sabatelli, P.2
Columbaro, M.3
Bonifazi, E.4
Pisani, V.5
Massa, R.6
-
10
-
-
0022618882
-
Promiscuous expression of myosin in myotonic dystrophy
-
Moore GE, Roses AD, Pericak-Vance MA, Garrett WE Jr, Schachat FH. Promiscuous expression of myosin in myotonic dystrophy. Muscle Nerve 1986;9:355-363.
-
(1986)
Muscle Nerve
, vol.9
, pp. 355-363
-
-
Moore, G.E.1
Roses, A.D.2
Pericak-Vance, M.A.3
Garrett Jr, W.E.4
Schachat, F.H.5
-
11
-
-
0005422025
-
Myotonic disorders
-
Mastaglia FL, Walton J, editors, Edinburgh: Churchill Livingstone;
-
Nonaka I, Satoyoshi E. Myotonic disorders. In: Mastaglia FL, Walton J, editors. Skeletal muscle pathology. Edinburgh: Churchill Livingstone; 1992. p 319-342.
-
(1992)
Skeletal muscle pathology
, pp. 319-342
-
-
Nonaka, I.1
Satoyoshi, E.2
-
12
-
-
33748373580
-
RNA-mediated neuromuscular disorders
-
Ranum LPW, Cooper TA. RNA-mediated neuromuscular disorders. Annu Rev Neurosci 2006;29:259-277.
-
(2006)
Annu Rev Neurosci
, vol.29
, pp. 259-277
-
-
Ranum, L.P.W.1
Cooper, T.A.2
-
13
-
-
0028837404
-
Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy
-
Ricker K, Koch MC, Lehmann-Horn F, Pongratz D, Speich N, Reiners K, et al. Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy. Arch Neurol 1995;52:25-31.
-
(1995)
Arch Neurol
, vol.52
, pp. 25-31
-
-
Ricker, K.1
Koch, M.C.2
Lehmann-Horn, F.3
Pongratz, D.4
Speich, N.5
Reiners, K.6
-
14
-
-
34147135054
-
Risk prediction for clinical phenotype in myotonic dystrophy type 1: Data from 2,650 patients
-
Salehi LB, Bonifazi E, Stasio ED, Gennarelli M, Botta A, Vallo L, et al. Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients. Genet Test 2007;11:84-90.
-
(2007)
Genet Test
, vol.11
, pp. 84-90
-
-
Salehi, L.B.1
Bonifazi, E.2
Stasio, E.D.3
Gennarelli, M.4
Botta, A.5
Vallo, L.6
-
15
-
-
12144286209
-
New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2)
-
Sallinen R, Vihola A, Bachinski LL, Huoponen K, Haapasalo H, Hackman P, et al. New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2). Neuromuscul Disord 2004;14:274-283.
-
(2004)
Neuromuscul Disord
, vol.14
, pp. 274-283
-
-
Sallinen, R.1
Vihola, A.2
Bachinski, L.L.3
Huoponen, K.4
Haapasalo, H.5
Hackman, P.6
-
16
-
-
10744226631
-
Muscle pathology in 57 patients with myotonic dystrophy type 2
-
Schoser BG, Schneider-Gold C, Kress W, Goebel HH, Reilich P, Koch MC, et al. Muscle pathology in 57 patients with myotonic dystrophy type 2. Muscle Nerve 2004;29:275-281.
-
(2004)
Muscle Nerve
, vol.29
, pp. 275-281
-
-
Schoser, B.G.1
Schneider-Gold, C.2
Kress, W.3
Goebel, H.H.4
Reilich, P.5
Koch, M.C.6
-
17
-
-
0028334933
-
-
Thornton CA, Griggs RC, Moxley RT 3rd. Myotonic dystrophy with no trinucleotide repeat expansion. Ann Neurol 1994;35:269-272.
-
Thornton CA, Griggs RC, Moxley RT 3rd. Myotonic dystrophy with no trinucleotide repeat expansion. Ann Neurol 1994;35:269-272.
-
-
-
-
18
-
-
0027953827
-
Muscle histopathology in myotonic dystrophy in relation to age and muscular weakness
-
Tohgi H, Kawamorita A, Utsugisawa K, Yamagata M, Sano M. Muscle histopathology in myotonic dystrophy in relation to age and muscular weakness. Muscle Nerve 1994;17:1037-1043.
-
(1994)
Muscle Nerve
, vol.17
, pp. 1037-1043
-
-
Tohgi, H.1
Kawamorita, A.2
Utsugisawa, K.3
Yamagata, M.4
Sano, M.5
-
19
-
-
10744219570
-
Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2
-
Vihola A, Bassez G, Meola G, Zhang S, Haapasalo H, Paetau A, et al. Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2. Neurology 2003;60:1854-1857.
-
(2003)
Neurology
, vol.60
, pp. 1854-1857
-
-
Vihola, A.1
Bassez, G.2
Meola, G.3
Zhang, S.4
Haapasalo, H.5
Paetau, A.6
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