-
1
-
-
0025323618
-
A new polymorphic probe which defines the region of chromosome 19 containing the myotonic dystrophy locus
-
Johnson K, Shelbourne P, Davies J, et al. A new polymorphic probe which defines the region of chromosome 19 containing the myotonic dystrophy locus. Am J Hum Genet. 1990;46:1073-1081.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 1073-1081
-
-
Johnson, K.1
Shelbourne, P.2
Davies, J.3
-
2
-
-
0025912905
-
Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker
-
Harley H, Brook J, Floyd J, et al. Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker. Am J Hum Genet. 1991;49:68-75.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 68-75
-
-
Harley, H.1
Brook, J.2
Floyd, J.3
-
3
-
-
0026584805
-
Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
-
Buxton J, Shelbourne P, Davies J, et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature. 1992;355:547-548.
-
(1992)
Nature
, vol.355
, pp. 547-548
-
-
Buxton, J.1
Shelbourne, P.2
Davies, J.3
-
4
-
-
0026598119
-
An unstable triplet repeat in a gene related to myotonic dystrophy
-
Fu Y, Pizzuti R, Fenwick J, et al. An unstable triplet repeat in a gene related to myotonic dystrophy. Science. 1992;255:1256-1258.
-
(1992)
Science
, vol.255
, pp. 1256-1258
-
-
Fu, Y.1
Pizzuti, R.2
Fenwick, J.3
-
5
-
-
0026895235
-
Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs
-
Jansen G, Mahadevan M, Amemiya C, et al. Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs. Nat Genet. 1992;1:261-266.
-
(1992)
Nat Genet
, vol.1
, pp. 261-266
-
-
Jansen, G.1
Mahadevan, M.2
Amemiya, C.3
-
6
-
-
0030845879
-
Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP
-
Klesert T, Otten A, Bird T, Tapscott S. Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. Nat Genet. 1997;16:402-406.
-
(1997)
Nat Genet
, vol.16
, pp. 402-406
-
-
Klesert, T.1
Otten, A.2
Bird, T.3
Tapscott, S.4
-
7
-
-
0030861573
-
Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene
-
Thornton C, Wymer J, Simmons Z, McClain C, Moxley R. Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene. Nat Genet. 1997;16:407-409.
-
(1997)
Nat Genet
, vol.16
, pp. 407-409
-
-
Thornton, C.1
Wymer, J.2
Simmons, Z.3
McClain, C.4
Moxley, R.5
-
9
-
-
0013889867
-
Myotonic dystrophy: A neglected cause of mental retardation
-
Calderon R. Myotonic dystrophy: a neglected cause of mental retardation. J Pediatr. 1966;68:423-431.
-
(1966)
J Pediatr
, vol.68
, pp. 423-431
-
-
Calderon, R.1
-
10
-
-
0021088735
-
Cognitive and personality function in myotonic muscular dystrophy
-
Bird T, Follett C, Griep E. Cognitive and personality function in myotonic muscular dystrophy. J Neurol Neurosurg Psychiatry. 1983;46:971-980.
-
(1983)
J Neurol Neurosurg Psychiatry
, vol.46
, pp. 971-980
-
-
Bird, T.1
Follett, C.2
Griep, E.3
-
12
-
-
0023116780
-
Evaluation of information-processing speed and neuropsychological functioning in patients with myotonic dystrophy
-
Stuss D, Kates M, Poirier C, et al. Evaluation of information-processing speed and neuropsychological functioning in patients with myotonic dystrophy. J Clin Exp Neuropsychol. 1987;9:131-146.
-
(1987)
J Clin Exp Neuropsychol
, vol.9
, pp. 131-146
-
-
Stuss, D.1
Kates, M.2
Poirier, C.3
-
13
-
-
0024605631
-
Magnetic resonance imaging and clinical correlates of intellectual impairment in myotonic dystrophy
-
Huber S, Kissel J, Shuttleworth E, Chakeres D, Clapp L, Brogan M. Magnetic resonance imaging and clinical correlates of intellectual impairment in myotonic dystrophy. Arch Neurol. 1989;46:536-540.
-
(1989)
Arch Neurol
, vol.46
, pp. 536-540
-
-
Huber, S.1
Kissel, J.2
Shuttleworth, E.3
Chakeres, D.4
Clapp, L.5
Brogan, M.6
-
14
-
-
0028073017
-
Cognitive deficits and personality patterns in maternally versus paternally inherited myotonic dystrophy
-
Palmer B, Boone K, Chang L, Lee A, Black S. Cognitive deficits and personality patterns in maternally versus paternally inherited myotonic dystrophy. J Clin Exp Neuropsychol. 1994;16:784-795.
-
(1994)
J Clin Exp Neuropsychol
, vol.16
, pp. 784-795
-
-
Palmer, B.1
Boone, K.2
Chang, L.3
Lee, A.4
Black, S.5
-
15
-
-
0023358618
-
Disturbed personality and psychological adjustment in myotonic dystrophy: Relationship to intellectual/cognitive function and underlying affective disorder (depression)
-
Brumback R. Disturbed personality and psychological adjustment in myotonic dystrophy: relationship to intellectual/cognitive function and underlying affective disorder (depression). Psychol Rep. 1987;60:783-796.
-
(1987)
Psychol Rep
, vol.60
, pp. 783-796
-
-
Brumback, R.1
-
16
-
-
0025106925
-
Neuropsychological deficits in myotonic muscular dystrophy
-
Malloy P, Mishra S, Adler S. Neuropsychological deficits in myotonic muscular dystrophy. J Neurol Neurosurg Psychiatry. 1990;53:1011-1013.
-
(1990)
J Neurol Neurosurg Psychiatry
, vol.53
, pp. 1011-1013
-
-
Malloy, P.1
Mishra, S.2
Adler, S.3
-
18
-
-
0027209572
-
Cerebral abnormalities in myotonic dystrophy: Cerebral blood flow, magnetic resonance imaging, and neuropsychological tests
-
Chang L, Anderson T, Migneco O, et al. Cerebral abnormalities in myotonic dystrophy: cerebral blood flow, magnetic resonance imaging, and neuropsychological tests. Arch Neurol. 1993;50:917-923.
-
(1993)
Arch Neurol
, vol.50
, pp. 917-923
-
-
Chang, L.1
Anderson, T.2
Migneco, O.3
-
19
-
-
0023855393
-
Central nervous system magnetic resonance imaging findings in myotonic dystrophy
-
Glantz R, Wright R, Huckman M, Garron D, Siegel I. Central nervous system magnetic resonance imaging findings in myotonic dystrophy. Arch Neurol. 1988;45:36-37.
-
(1988)
Arch Neurol
, vol.45
, pp. 36-37
-
-
Glantz, R.1
Wright, R.2
Huckman, M.3
Garron, D.4
Siegel, I.5
-
20
-
-
0027999950
-
White matter lesions and cognitive deficits: Relevance of lesion pattern?
-
Damian M, Schilling G, Bachmann G, Simon C, Stoppler S, Dorndorf W. White matter lesions and cognitive deficits: relevance of lesion pattern? Acta Neurol Scand. 1994;90:430-436.
-
(1994)
Acta Neurol Scand
, vol.90
, pp. 430-436
-
-
Damian, M.1
Schilling, G.2
Bachmann, G.3
Simon, C.4
Stoppler, S.5
Dorndorf, W.6
-
21
-
-
0028129309
-
Brain involvement in myotonic dystrophy: MRI features and their relationship to clinical and cognitive conditions
-
Censori B, Provinciali L, Danni M, et al. Brain involvement in myotonic dystrophy: MRI features and their relationship to clinical and cognitive conditions. Acta Neurol Scand. 1994;90:211-217.
-
(1994)
Acta Neurol Scand
, vol.90
, pp. 211-217
-
-
Censori, B.1
Provinciali, L.2
Danni, M.3
-
22
-
-
0026567050
-
Decreased cerebral glucose utilization in myotonic dystrophy
-
Fiorelli M, Duboc D, Mazoyer B. Decreased cerebral glucose utilization in myotonic dystrophy. Neurology. 1992;50:91-94.
-
(1992)
Neurology
, vol.50
, pp. 91-94
-
-
Fiorelli, M.1
Duboc, D.2
Mazoyer, B.3
-
23
-
-
0025054547
-
Topography of Alzheimer's neurofibrillary change distribution in myotonic dystrophy
-
Yoshimura N, Otake M, Igarashi K, Matsunaga M, Takebe K, Kudo H. Topography of Alzheimer's neurofibrillary change distribution in myotonic dystrophy. Clin Neuropathol. 1990;9:234-239.
-
(1990)
Clin Neuropathol
, vol.9
, pp. 234-239
-
-
Yoshimura, N.1
Otake, M.2
Igarashi, K.3
Matsunaga, M.4
Takebe, K.5
Kudo, H.6
-
24
-
-
0025736188
-
Presenile appearance of abundant Alzheimer's neurofibrillary tangles without senile plaques in the brain in myotonic dystrophy
-
Kiuchi A, Otsuka N, Namba Y, Nakano I, Tomonaga M. Presenile appearance of abundant Alzheimer's neurofibrillary tangles without senile plaques in the brain in myotonic dystrophy. Acta Neuropathol. 1991;82:1-5.
-
(1991)
Acta Neuropathol
, vol.82
, pp. 1-5
-
-
Kiuchi, A.1
Otsuka, N.2
Namba, Y.3
Nakano, I.4
Tomonaga, M.5
-
25
-
-
0029822936
-
Specific tau-variants in the brains of patients with myotonic dystrophy
-
Vermersch P, Sergeant N, Ruchoux M, et al. Specific tau-variants in the brains of patients with myotonic dystrophy. Neurology. 1996;47:711-717.
-
(1996)
Neurology
, vol.47
, pp. 711-717
-
-
Vermersch, P.1
Sergeant, N.2
Ruchoux, M.3
-
26
-
-
0015801703
-
Cytoplasmic inclusion bodies within neurons of the thalamus in myotonic dystrophy: A light and electron microscope study
-
Culebras A, Segarra J, Feldman R. Cytoplasmic inclusion bodies within neurons of the thalamus in myotonic dystrophy: a light and electron microscope study. J Neurol Sci. 1973;19:319-329.
-
(1973)
J Neurol Sci
, vol.19
, pp. 319-329
-
-
Culebras, A.1
Segarra, J.2
Feldman, R.3
-
27
-
-
0016823810
-
Mini-Mental State: A practical method for grading the cognitive state of patients for the clinician
-
Folstein M, Folstein S, McHugh P. Mini-Mental State: a practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res. 1975;12:189-198.
-
(1975)
J Psychiatr Res
, vol.12
, pp. 189-198
-
-
Folstein, M.1
Folstein, S.2
McHugh, P.3
-
28
-
-
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 J, McCurrach M, Harley 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.1
McCurrach, M.2
Harley, H.3
-
29
-
-
0026601924
-
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
-
Harley H, Brook J, Rundle S, et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature. 1992;355:545-546.
-
(1992)
Nature
, vol.355
, pp. 545-546
-
-
Harley, H.1
Brook, J.2
Rundle, S.3
-
30
-
-
0023636904
-
Spatial localization in NMR spectroscopy in vivo
-
Bottomley PA. Spatial localization in NMR spectroscopy in vivo. Ann N Y Acad Sci. 1987;508:333-348.
-
(1987)
Ann N Y Acad Sci
, vol.508
, pp. 333-348
-
-
Bottomley, P.A.1
-
31
-
-
0029737665
-
1H MR spectroscopy of the frontal lobe
-
1H MR spectroscopy of the frontal lobe. Magn Reson Med. 1996;36:462-468.
-
(1996)
Magn Reson Med
, vol.36
, pp. 462-468
-
-
Ernst, T.1
Chang, L.2
-
32
-
-
0002429690
-
Absolute quantitation of water and metabolites in the human brain, I: Compartments and water
-
Ernst T, Kreis R, Ross BD. Absolute quantitation of water and metabolites in the human brain, I: compartments and water. J Magn Reson. 1993;B102:1-8.
-
(1993)
J Magn Reson
, vol.B102
, pp. 1-8
-
-
Ernst, T.1
Kreis, R.2
Ross, B.D.3
-
33
-
-
43949163052
-
Absolute quantitation of water and metabolites in the human brain, II: Metabolite concentrations
-
Kreis R, Ernst T, Ross BD. Absolute quantitation of water and metabolites in the human brain, II: metabolite concentrations. J Magn Reson. 1993;B102:9-19.
-
(1993)
J Magn Reson
, vol.B102
, pp. 9-19
-
-
Kreis, R.1
Ernst, T.2
Ross, B.D.3
-
34
-
-
0027329198
-
Magnetic resonance imaging of muscle and brain in myotonic dystrophy
-
Damian M, Bachmann G, Herrmann D, Dorndorf W. Magnetic resonance imaging of muscle and brain in myotonic dystrophy. J Neurol. 1993;240:8-12.
-
(1993)
J Neurol
, vol.240
, pp. 8-12
-
-
Damian, M.1
Bachmann, G.2
Herrmann, D.3
Dorndorf, W.4
-
35
-
-
0029027387
-
Proton magnetic resonance spectroscopy of brain in congenital myotonic dystrophy
-
Hashimoto T, Tayama M, Yoshimoto T, et al. Proton magnetic resonance spectroscopy of brain in congenital myotonic dystrophy. Pediatr Neurol. 1995;12:335-340.
-
(1995)
Pediatr Neurol
, vol.12
, pp. 335-340
-
-
Hashimoto, T.1
Tayama, M.2
Yoshimoto, T.3
-
36
-
-
0027749707
-
Multinuclear NMR studies on the energy metabolism of glial and neuronal cells
-
Brand A, Richter-Landsberg C, Leibfritz D. Multinuclear NMR studies on the energy metabolism of glial and neuronal cells. Dev Neurosci. 1993;15:289-298.
-
(1993)
Dev Neurosci
, vol.15
, pp. 289-298
-
-
Brand, A.1
Richter-Landsberg, C.2
Leibfritz, D.3
-
37
-
-
0027408596
-
Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring
-
Redman J, Fenwick RJ, Fu H, Pizzuti A, Caskey C. Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring. JAMA. 1993;269:1960-1965.
-
(1993)
JAMA
, vol.269
, pp. 1960-1965
-
-
Redman, J.1
Fenwick, R.J.2
Fu, H.3
Pizzuti, A.4
Caskey, C.5
-
39
-
-
0026751712
-
Multiple sclerosis in children: Cerebral metabolic alterations monitored by localized proton magnetic resonance spectroscopy in vivo
-
Bruhn H, Frahm J, Merboldt K, et al. Multiple sclerosis in children: cerebral metabolic alterations monitored by localized proton magnetic resonance spectroscopy in vivo. Ann Neurol. 1992;32:140-150.
-
(1992)
Ann Neurol
, vol.32
, pp. 140-150
-
-
Bruhn, H.1
Frahm, J.2
Merboldt, K.3
-
40
-
-
0029610656
-
In vivo magnetic resonance spectroscopy in HIV and HIV-related brain diseases
-
Chang L. In vivo magnetic resonance spectroscopy in HIV and HIV-related brain diseases. Rev Neurosci. 1995;6:365-378.
-
(1995)
Rev Neurosci
, vol.6
, pp. 365-378
-
-
Chang, L.1
-
41
-
-
0029924748
-
HIV-related metabolic abnormalities in the brain: Depiction with proton MR spectroscopy with short echo times
-
Laubenberger J, Haussinger D, Bayer S, et al. HIV-related metabolic abnormalities in the brain: depiction with proton MR spectroscopy with short echo times. Radiology. 1996;199:805-810.
-
(1996)
Radiology
, vol.199
, pp. 805-810
-
-
Laubenberger, J.1
Haussinger, D.2
Bayer, S.3
-
42
-
-
0030960694
-
Metabolite abnormalities in progressive multifocal leukoencephalopathy by proton magnetic resonance spectroscopy
-
Chang L, Ernst T, Tornatore C, et al. Metabolite abnormalities in progressive multifocal leukoencephalopathy by proton magnetic resonance spectroscopy. Neurology. 1997;48:836-845.
-
(1997)
Neurology
, vol.48
, pp. 836-845
-
-
Chang, L.1
Ernst, T.2
Tornatore, C.3
-
43
-
-
0028244281
-
Abnormal cerebral metabolite concentrations in patients with probable Alzheimer's disease
-
Moats R, Ernst T, Shonk T, Ross BD. Abnormal cerebral metabolite concentrations in patients with probable Alzheimer's disease. Magn Reson Med. 1994;32:110-115.
-
(1994)
Magn Reson Med
, vol.32
, pp. 110-115
-
-
Moats, R.1
Ernst, T.2
Shonk, T.3
Ross, B.D.4
-
44
-
-
0030915132
-
Frontotemporal dementia and early Alzheimer disease: Differentiation with frontal lobe H-1 MR spectroscopy
-
Ernst T, Chang L, Melchor R, Mehringer CM. Frontotemporal dementia and early Alzheimer disease: differentiation with frontal lobe H-1 MR spectroscopy. Radiology. 1997;203:829-836.
-
(1997)
Radiology
, vol.203
, pp. 829-836
-
-
Ernst, T.1
Chang, L.2
Melchor, R.3
Mehringer, C.M.4
-
45
-
-
0025367229
-
Effects of hypernatremia on organic brain osmoles
-
Lien Y, Shapiro J, Chan L. Effects of hypernatremia on organic brain osmoles. J Clin Invest. 1990;85:1427-1435.
-
(1990)
J Clin Invest
, vol.85
, pp. 1427-1435
-
-
Lien, Y.1
Shapiro, J.2
Chan, L.3
-
46
-
-
0001652178
-
Effects of swelling on glial cell function
-
Lang F, Haeussinger D, eds. Heidelberg, Germany: Springer-Verlag
-
Kimelberg H, O'Connor E, Kettenmann H. Effects of swelling on glial cell function. In: Lang F, Haeussinger D, eds. Interactions in Cell Volume and Cell Function. Heidelberg, Germany: Springer-Verlag; 1993:158-186.
-
(1993)
Interactions in Cell Volume and Cell Function
, pp. 158-186
-
-
Kimelberg, H.1
O'Connor, E.2
Kettenmann, H.3
-
47
-
-
0023270888
-
Neuropathological changes of the brain in myotonic dystrophy: Some new observations
-
Ono S, Inoue K, Mannen T, Kanda F, Jinnai K, Takahashi K. Neuropathological changes of the brain in myotonic dystrophy: some new observations. J Neurol Sci. 1987;81:301-320.
-
(1987)
J Neurol Sci
, vol.81
, pp. 301-320
-
-
Ono, S.1
Inoue, K.2
Mannen, T.3
Kanda, F.4
Jinnai, K.5
Takahashi, K.6
-
48
-
-
0028070234
-
Cloning, pharmacological characterization, and genomic localization of the human creatine transporter. Recept
-
Nash S, Giros B, Kingsmore S, et al. Cloning, pharmacological characterization, and genomic localization of the human creatine transporter. Recept Channels. 1994;2:165-174.
-
(1994)
Channels
, vol.2
, pp. 165-174
-
-
Nash, S.1
Giros, B.2
Kingsmore, S.3
-
49
-
-
0025932040
-
A methionine to valine mutation in the skeletal muscle sodium channel alpha-subunit in human hyperkalemic periodic paralysis
-
Rojas C, Wang J, Schwartz L, Hoffman E, Powell B, Brown R. A methionine to valine mutation in the skeletal muscle sodium channel alpha-subunit in human hyperkalemic periodic paralysis. Nature. 1991;354:387-389.
-
(1991)
Nature
, vol.354
, pp. 387-389
-
-
Rojas, C.1
Wang, J.2
Schwartz, L.3
Hoffman, E.4
Powell, B.5
Brown, R.6
-
50
-
-
0026516209
-
Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita
-
McClatchey A, Van den Bergh P, Pericak-Vance M, et al. Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell. 1992;68:769-774.
-
(1992)
Cell
, vol.68
, pp. 769-774
-
-
McClatchey, A.1
Van den Bergh, P.2
Pericak-Vance, M.3
-
51
-
-
0026705098
-
The skeletal muscle chloride channel in dominant and recessive human myotonia
-
Koch M, Steinmeyer K, Lorenz C, et al. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science. 1992;257:797-800.
-
(1992)
Science
, vol.257
, pp. 797-800
-
-
Koch, M.1
Steinmeyer, K.2
Lorenz, C.3
-
54
-
-
0027450301
-
Proton nuclear magnetic resonance spectroscopy unambigously identifies different neural cell types
-
Urenjak J, Williams S, Gadian D, Noble M. Proton nuclear magnetic resonance spectroscopy unambigously identifies different neural cell types. J Neurosci. 1993;13:981-989.
-
(1993)
J Neurosci
, vol.13
, pp. 981-989
-
-
Urenjak, J.1
Williams, S.2
Gadian, D.3
Noble, M.4
-
55
-
-
0029877220
-
Brain choline-containing compounds are elevated in HIV-positive patients before the onset of AIDS dementia complex: A proton magnetic resonance spectroscopic study
-
Tracey I, Carr C, Guimaraes A, Worth J, Navia B, Gonzalez R. Brain choline-containing compounds are elevated in HIV-positive patients before the onset of AIDS dementia complex: a proton magnetic resonance spectroscopic study. Neurology. 1996;46:783-788.
-
(1996)
Neurology
, vol.46
, pp. 783-788
-
-
Tracey, I.1
Carr, C.2
Guimaraes, A.3
Worth, J.4
Navia, B.5
Gonzalez, R.6
-
56
-
-
0027957470
-
Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes
-
Thornton C, Johnson K, Moxley RT. Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes. Ann Neurol. 1994;35:104-107.
-
(1994)
Ann Neurol
, vol.35
, pp. 104-107
-
-
Thornton, C.1
Johnson, K.2
Moxley, R.T.3
|