-
1
-
-
0022517432
-
Hexosaminidase a deficiency in adults
-
Navon R, Argov Z, Frisch A. Hexosaminidase A deficiency in adults. Am J Med Genet 1986;24:179-196
-
(1986)
Am J Med Genet
, vol.24
, pp. 179-196
-
-
Navon, R.1
Argov, Z.2
Frisch, A.3
-
2
-
-
0038777085
-
Neurobiology and cellular pathogenesis of glycolipid storage diseases
-
Walkley SU. Neurobiology and cellular pathogenesis of glycolipid storage diseases. Philos Trans R Soc Lond B Biol Sci 2003;358:893-904
-
(2003)
Philos Trans R Soc Lond B Biol Sci
, vol.358
, pp. 893-904
-
-
Walkley, S.U.1
-
3
-
-
0035225405
-
Late-onset GM2 gangliosidosis and other hexosaminidase mutations among Jews
-
Navon R. Late-onset GM2 gangliosidosis and other hexosaminidase mutations among Jews. Adv Genet 2001;185-197
-
(2001)
Adv Genet
, pp. 185-197
-
-
Navon, R.1
-
4
-
-
0021270792
-
Clinical and genetic variations in the syndrome of adult GM2 gangliosidosis resulting from hexosaminidase A deficiency
-
Argov Z, Navon R. Clinical and genetic variations in the syndrome of adult GM2 gangliosidosis resulting from hexosaminidase A deficiency. Ann Neurol 1984;16:14-20
-
(1984)
Ann Neurol
, vol.16
, pp. 14-20
-
-
Argov, Z.1
Navon, R.2
-
5
-
-
0015698806
-
Late onset GM2-gangliosidosis: Clinical, pathological, and biochemical studies on 8 patients
-
Brett EM, Ellis RB, Haas L, et al. Late onset GM2-gangliosidosis: clinical, pathological, and biochemical studies on 8 patients. Arch Dis Child 1973;48:775-785
-
(1973)
Arch Dis Child
, vol.48
, pp. 775-785
-
-
Brett, E.M.1
Ellis, R.B.2
Haas, L.3
-
6
-
-
2942735270
-
Neuropsychological assessment of patients with late onset GM2 gangliosidosis
-
Zaroff CM, Neudorfer O, Morrison C, et al. Neuropsychological assessment of patients with late onset GM2 gangliosidosis. Neurology 2004;62:2283-2286
-
(2004)
Neurology
, vol.62
, pp. 2283-2286
-
-
Zaroff, C.M.1
Neudorfer, O.2
Morrison, C.3
-
7
-
-
0026758818
-
Tay-Sachs disease: Progression of changes on neuroimaging in four cases
-
Fukumizu M, Yoshikawa H, Takashima S, et al. Tay-Sachs disease: progression of changes on neuroimaging in four cases. Neuroradiology 1992;483-486
-
(1992)
Neuroradiology
, pp. 483-486
-
-
Fukumizu, M.1
Yoshikawa, H.2
Takashima, S.3
-
10
-
-
0026409893
-
Neuropathology of late onset gangliosidoses: A review
-
Suzuki K. Neuropathology of late onset gangliosidoses: a review. Dev Neurosci 1991;205-210
-
(1991)
Dev Neurosci
, pp. 205-210
-
-
Suzuki, K.1
-
11
-
-
0035871761
-
Magnetic resonance spectroscopy of the human brain
-
Ross B, Bluml S. Magnetic resonance spectroscopy of the human brain. Anat Rec 2001;265:54-84
-
(2001)
Anat Rec
, vol.265
, pp. 54-84
-
-
Ross, B.1
Bluml, S.2
-
12
-
-
0029078481
-
Proton magnetic resonance spectroscopic imaging in childhood ataxia with diffuse central nervous system hypomyelination
-
Tedeschi G, Schiffmann R, Barton NW, et al. Proton magnetic resonance spectroscopic imaging in childhood ataxia with diffuse central nervous system hypomyelination. Neurology 1995;45:1526-1532
-
(1995)
Neurology
, vol.45
, pp. 1526-1532
-
-
Tedeschi, G.1
Schiffmann, R.2
Barton, N.W.3
-
13
-
-
0031813260
-
Proton magnetic resonance spectroscopic imaging in the clinical evaluation of patients with Niemann-Pick type C disease
-
Tedeschi G, Bonavita S, Barton NW, et al. Proton magnetic resonance spectroscopic imaging in the clinical evaluation of patients with Niemann-Pick type C disease. J Neurol Neurosurg Psychiatry 1998;65:72-79
-
(1998)
J Neurol Neurosurg Psychiatry
, vol.65
, pp. 72-79
-
-
Tedeschi, G.1
Bonavita, S.2
Barton, N.W.3
-
14
-
-
0033549065
-
Diffuse central neuronal involvement in Fabry disease: A proton MRS imaging study
-
Tedeschi G, Bonavita S, Banerjee TK, et al. Diffuse central neuronal involvement in Fabry disease: a proton MRS imaging study. Neurology 1999;52:1663-1667
-
(1999)
Neurology
, vol.52
, pp. 1663-1667
-
-
Tedeschi, G.1
Bonavita, S.2
Banerjee, T.K.3
-
15
-
-
0029834577
-
Cortical and subcortical chemical pathology in Alzheimer's disease as assessed by multislice proton magnetic resonance spectroscopic imaging
-
Tedeschi G, Bertolino A, Lundhom N, et al. Cortical and subcortical chemical pathology in Alzheimer's disease as assessed by multislice proton magnetic resonance spectroscopic imaging. Neurology 1996;47:696-704
-
(1996)
Neurology
, vol.47
, pp. 696-704
-
-
Tedeschi, G.1
Bertolino, A.2
Lundhom, N.3
-
16
-
-
0031962941
-
Imaging axonal damage of normal-appearing white matter in multiple sclerosis
-
Fu L, Matthews PM, De Stefano N, et al. Imaging axonal damage of normal-appearing white matter in multiple sclerosis. Brain 1998;121:103-113
-
(1998)
Brain
, vol.121
, pp. 103-113
-
-
Fu, L.1
Matthews, P.M.2
De Stefano, N.3
-
17
-
-
0032852674
-
In vivo evidence for axonal dysfunction remote from focal cerebral demyelination of the type seen in multiple sclerosis
-
De Stefano N, Narayanan S, Matthews PM, et al. In vivo evidence for axonal dysfunction remote from focal cerebral demyelination of the type seen in multiple sclerosis. Brain 1999;122:1933-1939
-
(1999)
Brain
, vol.122
, pp. 1933-1939
-
-
De Stefano, N.1
Narayanan, S.2
Matthews, P.M.3
-
18
-
-
0037925129
-
Diffusely elevated cerebral choline and creatine in relapsing-remitting multiple sclerosis
-
Inglese M, Li BS, Rusinek H, et al. Diffusely elevated cerebral choline and creatine in relapsing-remitting multiple sclerosis. Magn Reson Med 2003;50:190-195
-
(2003)
Magn Reson Med
, vol.50
, pp. 190-195
-
-
Inglese, M.1
Li, B.S.2
Rusinek, H.3
-
19
-
-
1842608971
-
Indirect evidence for early widespread gray matter involvement in relapsing-remitting multiple sclerosis
-
Inglese M, Ge Y, Filippi M, et al. Indirect evidence for early widespread gray matter involvement in relapsing-remitting multiple sclerosis. Neuroimage 2004;21:1825-1829
-
(2004)
Neuroimage
, vol.21
, pp. 1825-1829
-
-
Inglese, M.1
Ge, Y.2
Filippi, M.3
-
20
-
-
0141855284
-
Whole-brain N-acetylaspartate level and cognitive performance in HIV infection
-
Patel SH, Inglese M, Glosser G, et al. Whole-brain N-acetylaspartate level and cognitive performance in HIV infection. AJNR Am J Neuroradiol 2003;24:1587-1591
-
(2003)
AJNR Am J Neuroradiol
, vol.24
, pp. 1587-1591
-
-
Patel, S.H.1
Inglese, M.2
Glosser, G.3
-
21
-
-
0026147120
-
A review of chemical issues in 1H NMR spectroscopy: N-acetyl-L-aspartate, creatine and choline
-
Miller BL. A review of chemical issues in 1H NMR spectroscopy: N-acetyl-L-aspartate, creatine and choline. NMR Biomed 1991;4:47-52
-
(1991)
NMR Biomed
, vol.4
, pp. 47-52
-
-
Miller, B.L.1
-
22
-
-
0342976767
-
Improved solvent suppression in one- And two-dimensional NMR spectra by convolution of time domain data
-
Marion D, Ikura M, Bax A. Improved solvent suppression in one- and two-dimensional NMR spectra by convolution of time domain data. J Magn Reson 1989;84:425-430
-
(1989)
J Magn Reson
, vol.84
, pp. 425-430
-
-
Marion, D.1
Ikura, M.2
Bax, A.3
-
23
-
-
0001354662
-
Resolution enhancement of protein PMR spectra using the difference between a broadened and normal spectrum
-
Campbell ID, Dobson CM, Williams RJP, Xavier ZV. Resolution enhancement of protein PMR spectra using the difference between a broadened and normal spectrum. J Magn Reson 1973;11:172-181
-
(1973)
J Magn Reson
, vol.11
, pp. 172-181
-
-
Campbell, I.D.1
Dobson, C.M.2
Williams, R.J.P.3
Xavier, Z.V.4
-
24
-
-
0031964291
-
3D multivoxel proton spectroscopy cf human brain using a hybrid of 8th-order Hadamard encoding with 2D chemical shift imaging
-
Gonen O, Murdoch JB, Stoyanova R, Goelman G. 3D multivoxel proton spectroscopy cf human brain using a hybrid of 8th-order Hadamard encoding with 2D chemical shift imaging. Magn Reson Med 1998;39:34-40
-
(1998)
Magn Reson Med
, vol.39
, pp. 34-40
-
-
Gonen, O.1
Murdoch, J.B.2
Stoyanova, R.3
Goelman, G.4
-
25
-
-
0031756714
-
Automated spectral analysis. III. Application to in vivo proton MR spectroscopy and spectroscopic imaging
-
Sober BJ, Young K, Govindaraju V, Maudsley AA. Automated spectral analysis. III. Application to in vivo proton MR spectroscopy and spectroscopic imaging. Magn Reson Med 1998;40:822-831
-
(1998)
Magn Reson Med
, vol.40
, pp. 822-831
-
-
Sober, B.J.1
Young, K.2
Govindaraju, V.3
Maudsley, A.A.4
-
26
-
-
0027345896
-
Quantitation of proton NMR spectra of the human brain using tissue water as an internal concentration reference
-
Barker PB, Sober BJ, Blackband SJ, et al. Quantitation of proton NMR spectra of the human brain using tissue water as an internal concentration reference. NMR Biomed 1993;6:89-94
-
(1993)
NMR Biomed
, vol.6
, pp. 89-94
-
-
Barker, P.B.1
Sober, B.J.2
Blackband, S.J.3
-
27
-
-
43949163052
-
Absolute concentrations of water and metabolites in the human brain. II. Metabolite concentrations
-
Kreis R, Ernst T, Ross B. Absolute concentrations of water and metabolites in the human brain. II. Metabolite concentrations. J Magn Reson 1993;102:9-19
-
(1993)
J Magn Reson
, vol.102
, pp. 9-19
-
-
Kreis, R.1
Ernst, T.2
Ross, B.3
-
28
-
-
0036191075
-
Reproducibility of 3D proton spectroscopy in the human brain
-
Li BS, Babb JS, Soher BJ, et al. Reproducibility of 3D proton spectroscopy in the human brain. Magn Reson Med 2002;47:439-446
-
(2002)
Magn Reson Med
, vol.47
, pp. 439-446
-
-
Li, B.S.1
Babb, J.S.2
Soher, B.J.3
-
29
-
-
0014739841
-
Juvenile GM2-gangliosidosis: Clinical variant of Tay-Sachs disease or a new disease
-
Suzuki K, Rapin I, Suzuki Y, Ishii N. Juvenile GM2-gangliosidosis: clinical variant of Tay-Sachs disease or a new disease. Neurology 1970;20:190-204
-
(1970)
Neurology
, vol.20
, pp. 190-204
-
-
Suzuki, K.1
Rapin, I.2
Suzuki, Y.3
Ishii, N.4
-
30
-
-
0015083864
-
Juvenile GM2 gangliosidosis: Biochemical and ultrastructural studies on a new variant of Tay-Sachs disease
-
Menkes JH, O'Brien JS, Okada S, et al. Juvenile GM2 gangliosidosis: biochemical and ultrastructural studies on a new variant of Tay-Sachs disease. Arch Neurol 1971;25:14-22
-
(1971)
Arch Neurol
, vol.25
, pp. 14-22
-
-
Menkes, J.H.1
O'Brien, J.S.2
Okada, S.3
-
32
-
-
0016919076
-
Adult (chronic) GM2 gangliosidosis: Atypical spinocerebellar degeneration in a Jewish sibship
-
Rapin I, Suzuki K, Valsamis MP. Adult (chronic) GM2 gangliosidosis: atypical spinocerebellar degeneration in a Jewish sibship. Arch Neurol 1976;33:120-130
-
(1976)
Arch Neurol
, vol.33
, pp. 120-130
-
-
Rapin, I.1
Suzuki, K.2
Valsamis, M.P.3
-
34
-
-
0027265195
-
The proton NMR spectrum in acute EAE: The significance of the change in the Cho: Cr ratio
-
Brenner RE, Munro PM, Williams SC, et al. The proton NMR spectrum in acute EAE: the significance of the change in the Cho: Cr ratio. Magn Reson Med 1993;29:737-745
-
(1993)
Magn Reson Med
, vol.29
, pp. 737-745
-
-
Brenner, R.E.1
Munro, P.M.2
Williams, S.C.3
-
35
-
-
0029609682
-
Chemical pathology of acute demyelinating lesions and its correlation with disability
-
De Stefano N, Matthews PM, Antel JP, et al. Chemical pathology of acute demyelinating lesions and its correlation with disability. Ann Neurol 1995;38:901-909
-
(1995)
Ann Neurol
, vol.38
, pp. 901-909
-
-
De Stefano, N.1
Matthews, P.M.2
Antel, J.P.3
-
36
-
-
0034743543
-
31Phosphorus magnetic resonance spectroscopy in late-onset Tay-Sachs disease
-
Felderhoff-Mueser U, Sperner J, Konstanzcak P, et al. 31Phosphorus magnetic resonance spectroscopy in late-onset Tay-Sachs disease. J Child Neurol 2001;16:377-380
-
(2001)
J Child Neurol
, vol.16
, pp. 377-380
-
-
Felderhoff-Mueser, U.1
Sperner, J.2
Konstanzcak, P.3
-
37
-
-
2942672495
-
Secondary accumulation of gangliosides in lysosomal storage disorders
-
Walkley SU. Secondary accumulation of gangliosides in lysosomal storage disorders. Semin Cell Dev Biol 2004;15:433-444
-
(2004)
Semin Cell Dev Biol
, vol.15
, pp. 433-444
-
-
Walkley, S.U.1
-
38
-
-
0032032415
-
New perspectives on the function of myelin galactolipids
-
Coetzee T, Suzuki K, Popko B. New perspectives on the function of myelin galactolipids. Trends Neurosci 1998;21:126-130
-
(1998)
Trends Neurosci
, vol.21
, pp. 126-130
-
-
Coetzee, T.1
Suzuki, K.2
Popko, B.3
-
39
-
-
0030937840
-
Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin
-
Platt FM, Neises GR, Reinkensmeier G, et al. Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin. Science 1997;276:428-431
-
(1997)
Science
, vol.276
, pp. 428-431
-
-
Platt, F.M.1
Neises, G.R.2
Reinkensmeier, G.3
-
40
-
-
0038170055
-
Therapeutic applications of imino sugars in lysosomal storage disorders
-
Butters TD, Dwek RA, Platt FM. Therapeutic applications of imino sugars in lysosomal storage disorders. Adv Exp Med Biol 2003;561-574
-
(2003)
Adv Exp Med Biol
, pp. 561-574
-
-
Butters, T.D.1
Dwek, R.A.2
Platt, F.M.3
|