-
1
-
-
0028962204
-
Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children
-
van der Knaap M.S., Barth P.G., Stroink H., van Nieuwenhuizen O., Arts W.F., Hoogenraad F., et al. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children. Ann Neurol 3 (1995) 324-334
-
(1995)
Ann Neurol
, vol.3
, pp. 324-334
-
-
van der Knaap, M.S.1
Barth, P.G.2
Stroink, H.3
van Nieuwenhuizen, O.4
Arts, W.F.5
Hoogenraad, F.6
-
2
-
-
0035072651
-
Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts
-
Leegwater P.A., Yuan B.Q., van der Steen J., Mulders J., Konst A.A., Boor P.K., et al. Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. Am J Hum Genet 68 (2001) 831-838
-
(2001)
Am J Hum Genet
, vol.68
, pp. 831-838
-
-
Leegwater, P.A.1
Yuan, B.Q.2
van der Steen, J.3
Mulders, J.4
Konst, A.A.5
Boor, P.K.6
-
3
-
-
18244386951
-
MLC1: a novel protein in distal astroglial processes
-
Boor P.K., de Groot K., Waisfisz Q., Kamphorst W., Oudejans C.B., Powers J.M., et al. MLC1: a novel protein in distal astroglial processes. J Neuropathol Exp Neurol 64 (2005) 412-419
-
(2005)
J Neuropathol Exp Neurol
, vol.64
, pp. 412-419
-
-
Boor, P.K.1
de Groot, K.2
Waisfisz, Q.3
Kamphorst, W.4
Oudejans, C.B.5
Powers, J.M.6
-
4
-
-
0033866569
-
van der Knaap syndrome: MR imaging findings including FLAIR, diffusion imaging, and proton MR spectroscopy
-
Sener R.N. van der Knaap syndrome: MR imaging findings including FLAIR, diffusion imaging, and proton MR spectroscopy. Eur Radiol 10 (2000) 1452-1455
-
(2000)
Eur Radiol
, vol.10
, pp. 1452-1455
-
-
Sener, R.N.1
-
5
-
-
0036942885
-
van der Knaap's leukoencephalopathy: report of five new cases with emphasis on diffusion-weighted MRI findings
-
Gelal F., Calli C., Apaydin M., and Erdem G. van der Knaap's leukoencephalopathy: report of five new cases with emphasis on diffusion-weighted MRI findings. Neuroradiology 44 (2002) 625-630
-
(2002)
Neuroradiology
, vol.44
, pp. 625-630
-
-
Gelal, F.1
Calli, C.2
Apaydin, M.3
Erdem, G.4
-
6
-
-
33745194799
-
MR imaging and 1H-MR spectroscopy of a case of van der Knaap disease
-
Morita H., Imamura A., Matsuo N., Tatebayashi K., Omoya K., Takahashi Y., et al. MR imaging and 1H-MR spectroscopy of a case of van der Knaap disease. Brain Dev 28 (2006) 466-469
-
(2006)
Brain Dev
, vol.28
, pp. 466-469
-
-
Morita, H.1
Imamura, A.2
Matsuo, N.3
Tatebayashi, K.4
Omoya, K.5
Takahashi, Y.6
-
8
-
-
0346158246
-
A common mutation and a novel mutation in Japanese patients with van der Knaap disease
-
Tsujino S., Kanazawa N., Yoneyama H., Shimono M., Kawakami A., Hatanaka Y., et al. A common mutation and a novel mutation in Japanese patients with van der Knaap disease. J Hum Genet 48 (2003) 605-608
-
(2003)
J Hum Genet
, vol.48
, pp. 605-608
-
-
Tsujino, S.1
Kanazawa, N.2
Yoneyama, H.3
Shimono, M.4
Kawakami, A.5
Hatanaka, Y.6
-
9
-
-
0842334074
-
Conversion of brain SPECT images between different collimators and reconstruction processes for analysis using statistical parametric mapping
-
Matsuda H., Mizumura S., Soma T., and Takemura N. Conversion of brain SPECT images between different collimators and reconstruction processes for analysis using statistical parametric mapping. Nucl Med Commun 25 (2004) 67-74
-
(2004)
Nucl Med Commun
, vol.25
, pp. 67-74
-
-
Matsuda, H.1
Mizumura, S.2
Soma, T.3
Takemura, N.4
-
10
-
-
33846577378
-
Late-onset neuropsychological symptoms in a Japanese patient with megalencephalic leukoencephalopathy with subcortical cysts
-
Sugiura C., Shiota M., Maegaki Y., Yoshida K., Koeda T., Kitahara T., et al. Late-onset neuropsychological symptoms in a Japanese patient with megalencephalic leukoencephalopathy with subcortical cysts. Neuropediatrics 37 (2006) 286-290
-
(2006)
Neuropediatrics
, vol.37
, pp. 286-290
-
-
Sugiura, C.1
Shiota, M.2
Maegaki, Y.3
Yoshida, K.4
Koeda, T.5
Kitahara, T.6
-
11
-
-
0031017130
-
Incomplete brain infarction of reperfused cortex may be quantitated with iomazenil
-
Nakagawara J. Incomplete brain infarction of reperfused cortex may be quantitated with iomazenil. Stroke 28 (1997) 124-132
-
(1997)
Stroke
, vol.28
, pp. 124-132
-
-
Nakagawara, J.1
-
12
-
-
0034939789
-
Disturbed benzodiazepine receptor function at the onset of temporal lobe epilepsy-lomanzenil-binding in de-novo TLE
-
Matheja P., Ludemann P., Kuwert T., Weckesser M., Kellinghaus C., Weitemeyer L., et al. Disturbed benzodiazepine receptor function at the onset of temporal lobe epilepsy-lomanzenil-binding in de-novo TLE. J Neurol 248 (2001) 585-591
-
(2001)
J Neurol
, vol.248
, pp. 585-591
-
-
Matheja, P.1
Ludemann, P.2
Kuwert, T.3
Weckesser, M.4
Kellinghaus, C.5
Weitemeyer, L.6
-
14
-
-
0029973244
-
Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course
-
van der Knaap M.S., Barth P.G., Vrensen G.F., and Valk J. Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course. Acta Neuropathol (Berl) 92 (1996) 206-212
-
(1996)
Acta Neuropathol (Berl)
, vol.92
, pp. 206-212
-
-
van der Knaap, M.S.1
Barth, P.G.2
Vrensen, G.F.3
Valk, J.4
-
16
-
-
0032518057
-
Cognitive functioning and GABAA/benzodiazepine receptor binding in schizophrenia: a 123I-iomazenil SPET study
-
Ball S., Busatto G.F., David A.S., Jones S.H., Hemsley D.R., Pilowsky L.S., et al. Cognitive functioning and GABAA/benzodiazepine receptor binding in schizophrenia: a 123I-iomazenil SPET study. Biol Psychiatry 43 (1998) 107-117
-
(1998)
Biol Psychiatry
, vol.43
, pp. 107-117
-
-
Ball, S.1
Busatto, G.F.2
David, A.S.3
Jones, S.H.4
Hemsley, D.R.5
Pilowsky, L.S.6
-
17
-
-
0032837458
-
Decreased density of GABA-A receptors in the left sensorimotor cortex in akinetic catatonia: investigation of in vivo benzodiazepine receptor binding
-
Northoff G., Steinke R., Czcervenka C., Krause R., Ulrich S., Danos P., et al. Decreased density of GABA-A receptors in the left sensorimotor cortex in akinetic catatonia: investigation of in vivo benzodiazepine receptor binding. J Neurol Neurosurg Psychiatry 67 (1999) 445-450
-
(1999)
J Neurol Neurosurg Psychiatry
, vol.67
, pp. 445-450
-
-
Northoff, G.1
Steinke, R.2
Czcervenka, C.3
Krause, R.4
Ulrich, S.5
Danos, P.6
-
18
-
-
21344457205
-
MLC1 gene is associated with schizophrenia and bipolar disorder in Southern India
-
Verma R., Mukerji M., Grover D., B-Rao C., Das S.K., Kubendran S., et al. MLC1 gene is associated with schizophrenia and bipolar disorder in Southern India. Biol Psychiatry 58 (2005) 16-22
-
(2005)
Biol Psychiatry
, vol.58
, pp. 16-22
-
-
Verma, R.1
Mukerji, M.2
Grover, D.3
B-Rao, C.4
Das, S.K.5
Kubendran, S.6
-
19
-
-
0037224509
-
Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?
-
Rubie C., Lichtner P., Gartner J., Siekiera M., Uziel G., Kohlmann B., et al. Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?. Hum Mutat 21 (2003) 45-52
-
(2003)
Hum Mutat
, vol.21
, pp. 45-52
-
-
Rubie, C.1
Lichtner, P.2
Gartner, J.3
Siekiera, M.4
Uziel, G.5
Kohlmann, B.6
-
20
-
-
0028981318
-
Benzodiazepine-GABAA receptors in idiopathic generalized epilepsy measured with [11C]flumazenil and positron emission tomography
-
Prevett M.C., Lammertsma A.A., Brooks D.J., Bartenstein P.A., Patsalos P.N., Fish D.R., et al. Benzodiazepine-GABAA receptors in idiopathic generalized epilepsy measured with [11C]flumazenil and positron emission tomography. Epilepsia 36 (1995) 113-121
-
(1995)
Epilepsia
, vol.36
, pp. 113-121
-
-
Prevett, M.C.1
Lammertsma, A.A.2
Brooks, D.J.3
Bartenstein, P.A.4
Patsalos, P.N.5
Fish, D.R.6
-
21
-
-
0030769808
-
Central benzodiazepine/gamma-aminobutyric acid A receptors in idiopathic generalized epilepsy: an [11C]flumazenil positron emission tomography study
-
Koepp M.J., Richardson M.P., Brooks D.J., Cunningham V.J., and Duncan J.S. Central benzodiazepine/gamma-aminobutyric acid A receptors in idiopathic generalized epilepsy: an [11C]flumazenil positron emission tomography study. Epilepsia 38 (1997) 1089-1097
-
(1997)
Epilepsia
, vol.38
, pp. 1089-1097
-
-
Koepp, M.J.1
Richardson, M.P.2
Brooks, D.J.3
Cunningham, V.J.4
Duncan, J.S.5
-
22
-
-
0028080101
-
Glutamate uptake into astrocytes stimulates aerobic glycolysis: a mechanism coupling neuronal activity to glucose utilization
-
Pellerin L., and Magistretti P.J. Glutamate uptake into astrocytes stimulates aerobic glycolysis: a mechanism coupling neuronal activity to glucose utilization. PNAS 91 (1994) 10625-10629
-
(1994)
PNAS
, vol.91
, pp. 10625-10629
-
-
Pellerin, L.1
Magistretti, P.J.2
-
23
-
-
33745893228
-
The glutamate/GABA-glutamine cycle: aspects of transport, neurotransmitter homeostasis and ammonia transfer
-
Bak L.K., Schousboe A., and Waagepetersen H.S. The glutamate/GABA-glutamine cycle: aspects of transport, neurotransmitter homeostasis and ammonia transfer. J Neurochem 98 (2006) 641-653
-
(2006)
J Neurochem
, vol.98
, pp. 641-653
-
-
Bak, L.K.1
Schousboe, A.2
Waagepetersen, H.S.3
-
24
-
-
0035163913
-
Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease
-
Brenner M., Johnson A.B., Boespflug-Tanguy O., Rodriguez D., Goldman J.E., and Messing A. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genet 27 (2001) 117-120
-
(2001)
Nat Genet
, vol.27
, pp. 117-120
-
-
Brenner, M.1
Johnson, A.B.2
Boespflug-Tanguy, O.3
Rodriguez, D.4
Goldman, J.E.5
Messing, A.6
-
25
-
-
8444225362
-
Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts
-
Teijido O., Martinez A., Pusch M., Zorzano A., Soriano E., Del Rio J.A., et al. Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts. Hum Mol Genet 13 (2004) 2581-2594
-
(2004)
Hum Mol Genet
, vol.13
, pp. 2581-2594
-
-
Teijido, O.1
Martinez, A.2
Pusch, M.3
Zorzano, A.4
Soriano, E.5
Del Rio, J.A.6
-
26
-
-
10744228947
-
Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts
-
Patrono C., Di Giacinto G., Eymard-Pierre E., Santorelli F.M., Rodriguez D., De Stefano N., et al. Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts. Neurology 61 (2003) 534-537
-
(2003)
Neurology
, vol.61
, pp. 534-537
-
-
Patrono, C.1
Di Giacinto, G.2
Eymard-Pierre, E.3
Santorelli, F.M.4
Rodriguez, D.5
De Stefano, N.6
|