-
1
-
-
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
-
J. D. Brook, M. E. McCurrach, H. G. Harley, A. J. Bucker, D. Church, H. Aburarani, K. Hunter, V. P. Stanton, J. P. Thirion, T. Hudson, R. Sohn, B. Zemelman, R. G. Snell, S. A. Rundle, S. Crow, J. Davies, P. Shelbourne, J. Buxton, C. Jones, V. Juvonen, K. Johnson, P. S. Harper, D. J. Shaw, D. E. Houseman, 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 68, 799-808 (1992).
-
(1992)
Cell
, vol.68
, pp. 799-808
-
-
Brook, J.D.1
McCurrach, M.E.2
Harley, H.G.3
Bucker, A.J.4
Church, D.5
Aburarani, H.6
Hunter, K.7
Stanton, V.P.8
Thirion, J.P.9
Hudson, T.10
Sohn, R.11
Zemelman, B.12
Snell, R.G.13
Rundle, S.A.14
Crow, S.15
Davies, J.16
Shelbourne, P.17
Buxton, J.18
Jones, C.19
Juvonen, V.20
Johnson, K.21
Harper, P.S.22
Shaw, D.J.23
Houseman, D.E.24
more..
-
2
-
-
0026598119
-
An unstable triplet in a gene related to myotonic muscular dystrophy
-
Y. H. Fu, A. Pizzuti, R. G. Fenwick, J. King, S. Rajnarayan, P. W. Dunne, J. Dubel, G. A. Nasser, T. Ashizawa, P. de Jong, B. Wieringa, R. Korneluk, M. B. Ferryman, H. F. Epstein, C. T. Caskey, An unstable triplet in a gene related to myotonic muscular dystrophy. Science 255, 1256-1258 (1992).
-
(1992)
Science
, vol.255
, pp. 1256-1258
-
-
Fu, Y.H.1
Pizzuti, A.2
Fenwick, R.G.3
King, J.4
Rajnarayan, S.5
Dunne, P.W.6
Dubel, J.7
Nasser, G.A.8
Ashizawa, T.9
De Jong, P.10
Wieringa, B.11
Korneluk, R.12
Ferryman, M.B.13
Epstein, H.F.14
Caskey, C.T.15
-
3
-
-
0026603841
-
Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene
-
M. Mahadevan, C. Tsilfidis, L. Sabourn, G. Shutler, C. Amemiya, G. Jansen, C. Neville, M. Narang, J. Barcelo, K. O'Hoy, J. Earle-MacDonald, P. de Jong, B. Wieringa, B. Korneluk, Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 255, 1253-1255 (1992).
-
(1992)
Science
, vol.255
, pp. 1253-1255
-
-
Mahadevan, M.1
Tsilfidis, C.2
Sabourn, L.3
Shutler, G.4
Amemiya, C.5
Jansen, G.6
Neville, C.7
Narang, M.8
Barcelo, J.9
O'Hoy, K.10
Earle-MacDonald, J.11
De Jong, P.12
Wieringa, B.13
Korneluk, B.14
-
4
-
-
0021811103
-
Membrane changes in cells from myotonia patients
-
R. Rüdel, F. Lehman-Horn, Membrane changes in cells from myotonia patients. Physiol. Rev. 65, 310-356 (1985).
-
(1985)
Physiol. Rev.
, vol.65
, pp. 310-356
-
-
Rüdel, R.1
Lehman-Horn, F.2
-
5
-
-
0027711823
-
Inheritance and pathogenicity of myotonic dystrophy
-
Partridge T., ed. London: Chapman & Hall
-
K. Johnson, Inheritance and pathogenicity of myotonic dystrophy. In: Partridge T., ed. Molecular and cell biology of muscular dystrophy. London: Chapman & Hall, 85-110 (1993).
-
(1993)
Molecular and Cell Biology of Muscular Dystrophy
, pp. 85-110
-
-
Johnson, K.1
-
6
-
-
0027511236
-
Genetics and physiology of the myotonic muscle disorders
-
L. J. Ptacek, K. J. Johnson, R. G. Griggs, Genetics and physiology of the myotonic muscle disorders. New Engl. J. Med. 328, 482-489 (1993).
-
(1993)
New Engl. J. Med.
, vol.328
, pp. 482-489
-
-
Ptacek, L.J.1
Johnson, K.J.2
Griggs, R.G.3
-
7
-
-
0014251863
-
Sodium flux in myotonic muscular dystrophy
-
W. W. Hofmann, G. DeNardo, Sodium flux in myotonic muscular dystrophy. Am. J. Physiol. 214, 330-336 (1968).
-
(1968)
Am. J. Physiol.
, vol.214
, pp. 330-336
-
-
Hofmann, W.W.1
DeNardo, G.2
-
8
-
-
0000657766
-
Direct observation of resolved resonances from intra- and extracellular sodium-23 ions in NMR studies of intact cells and tissues using dysprosium (III) tripolyphosphate as a paramagnetic shift reagent
-
R. K. Gupta, P. Gupta, Direct observation of resolved resonances from intra- and extracellular sodium-23 ions in NMR studies of intact cells and tissues using dysprosium (III) tripolyphosphate as a paramagnetic shift reagent. J. Magn. Reson. 47, 344-350 (1982).
-
(1982)
J. Magn. Reson.
, vol.47
, pp. 344-350
-
-
Gupta, R.K.1
Gupta, P.2
-
9
-
-
0002424208
-
7+
-
7+, J. Magn. Reson. 56, 33-47 (1984).
-
(1984)
J. Magn. Reson.
, vol.56
, pp. 33-47
-
-
Chu, S.C.1
Pike, M.M.2
Fossel, E.T.3
Smith, Th.W.4
Balshi, J.A.5
Springer Jr., C.S.6
-
11
-
-
0001038088
-
Selective detection of intracellular sodium by coherence-transfer NMR
-
J. Pekar, P. F. Renshaw, J. S. Leigh, Jr., Selective detection of intracellular sodium by coherence-transfer NMR. J. Magn. Reson. 72, 159-161 (1987).
-
(1987)
J. Magn. Reson.
, vol.72
, pp. 159-161
-
-
Pekar, J.1
Renshaw, P.F.2
Leigh Jr., J.S.3
-
12
-
-
8044232392
-
New multiple-quantum filters for sodium spectroscopy: First results in humans
-
J. Pekar, L. Bolinger, S. Wicklund, V. H. Subramanian, J. S. Leigh, Jr., New multiple-quantum filters for sodium spectroscopy: First results in humans. Proc. Soc. Magn. Reson. Med. 6, 70 (1987).
-
(1987)
Proc. Soc. Magn. Reson. Med.
, vol.6
, pp. 70
-
-
Pekar, J.1
Bolinger, L.2
Wicklund, S.3
Subramanian, V.H.4
Leigh Jr., J.S.5
-
14
-
-
0027422126
-
23Na NMR signal in triple quantum filtered spectra of rat hearts in the presence of shift reagents
-
23Na NMR signal in triple quantum filtered spectra of rat hearts in the presence of shift reagents. Magn. Reson. Med. 30, 503-506 (1993).
-
(1993)
Magn. Reson. Med.
, vol.30
, pp. 503-506
-
-
Navon, G.1
-
16
-
-
0026556498
-
Myotonic dystrophy: Clinical assessment of muscular disability in an isolated population with presumed homogeneous mutation
-
J. Mathieu, M. De Braekeleer, C. Prevost, C. Boily, Myotonic dystrophy: Clinical assessment of muscular disability in an isolated population with presumed homogeneous mutation. Neurology 42, 203-208 (1992).
-
(1992)
Neurology
, vol.42
, pp. 203-208
-
-
Mathieu, J.1
De Braekeleer, M.2
Prevost, C.3
Boily, C.4
-
18
-
-
36549098255
-
Multiple quantum NMR spectroscopy of S = 3/2 spins in isotropic phase: A new probe for multi exponential relaxation
-
G. S. Jaccard, S. Wimperis, G. Bodenhausen, Multiple quantum NMR spectroscopy of S = 3/2 spins in isotropic phase: a new probe for multi exponential relaxation. J. Chem. Phys. 85, 6282-6293 (1986).
-
(1986)
J. Chem. Phys.
, vol.85
, pp. 6282-6293
-
-
Jaccard, G.S.1
Wimperis, S.2
Bodenhausen, G.3
-
19
-
-
0001598561
-
Detection of biexponential relaxation in sodium-23 facilitated by double-quantum filtering
-
J. Pekar, J. S. Leigh Jr., Detection of biexponential relaxation in sodium-23 facilitated by double-quantum filtering. J. Magn. Reson. 69, 582-584 (1986).
-
(1986)
J. Magn. Reson.
, vol.69
, pp. 582-584
-
-
Pekar, J.1
Leigh Jr., J.S.2
-
20
-
-
0026235267
-
A comprehensive approach to the analysis and interpretation of the resonances of spins 3/2 from living systems
-
W. D. Rooney, C. S. Springer, Jr., A comprehensive approach to the analysis and interpretation of the resonances of spins 3/2 from living systems. NMR in Biomed. 4, 209-226 (1991).
-
(1991)
NMR in Biomed.
, vol.4
, pp. 209-226
-
-
Rooney, W.D.1
Springer Jr., C.S.2
-
21
-
-
85005616594
-
Single and multiple quantum NMR relaxation times of sodium and potassium in red blood cells
-
H. Shinar, U. Eliav, G. Navon, Single and multiple quantum NMR relaxation times of sodium and potassium in red blood cells. Isr. J. Chem. 32, 299-304 (1992).
-
(1992)
Isr. J. Chem.
, vol.32
, pp. 299-304
-
-
Shinar, H.1
Eliav, U.2
Navon, G.3
-
22
-
-
44049115372
-
The formation of a second rank tensor in Na-23 double quantum filtered NMR as an indicator for order in a biological tissue
-
U. Eliav, H. Shinar, G. Navon, The formation of a second rank tensor in Na-23 double quantum filtered NMR as an indicator for order in a biological tissue. J. Magn. Reson. 98, 223-229 (1992).
-
(1992)
J. Magn. Reson.
, vol.98
, pp. 223-229
-
-
Eliav, U.1
Shinar, H.2
Navon, G.3
-
23
-
-
0028870260
-
Detection of residual quadrupolar interaction in human skeletal muscle and brain in vivo via multiple quantum filtered sodium NMR spectra
-
R. Reddy, L. Bolinger, M. Shinnar, E. Noyszewski, J. S. Leigh Jr., Detection of residual quadrupolar interaction in human skeletal muscle and brain in vivo via multiple quantum filtered sodium NMR spectra. Magn. Reson. Med. 33, 134-139 (1995).
-
(1995)
Magn. Reson. Med.
, vol.33
, pp. 134-139
-
-
Reddy, R.1
Bolinger, L.2
Shinnar, M.3
Noyszewski, E.4
Leigh Jr., J.S.5
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