-
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., Valk J. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children. Ann Neurol. 37:1995;324-334.
-
(1995)
Ann Neurol
, vol.37
, 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
Valk, J.7
-
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., Mejaski-Bosnjak V., van der Maarel S.M., Frants R.R., Oudejans C.B., Schutgens R.B., Pronk J.C., van der Knaap M.S. 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
Mejaski-Bosnjak, V.7
Van der Maarel, S.M.8
Frants, R.R.9
Oudejans, C.B.10
Schutgens, R.B.11
Pronk, J.C.12
Van der Knaap, M.S.13
-
3
-
-
0029823879
-
Leukoencephalopathy, megalencephaly, and mild clinical course: A recently individualised familial leukodystrophy. Report on five new cases
-
Goutieres F., Boulloche J., Bourgeois M., Aicardi J. Leukoencephalopathy, megalencephaly, and mild clinical course: a recently individualised familial leukodystrophy. Report on five new cases. J Child Neurol. 11:1996;439-444.
-
(1996)
J Child Neurol
, vol.11
, pp. 439-444
-
-
Goutieres, F.1
Boulloche, J.2
Bourgeois, M.3
Aicardi, J.4
-
4
-
-
0033787732
-
Partial seizures in leukoencephalopathy with swelling and a discrepantly mild clinical course
-
Higuchi Y., Hattori H., Tsuji M., Asato R., Nakahata T. Partial seizures in leukoencephalopathy with swelling and a discrepantly mild clinical course. Brain Dev. 22:2000;387-389.
-
(2000)
Brain Dev
, vol.22
, pp. 387-389
-
-
Higuchi, Y.1
Hattori, H.2
Tsuji, M.3
Asato, R.4
Nakahata, T.5
-
6
-
-
0033929762
-
Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel
-
Topcu M., Gartioux C., Ribierre F., Yalcinkaya C., Tokus E., Oztekin N., Beckmann J.S., Ozguc M., Seboun E. Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel. Am J Hum Genet. 66:2000;733-739.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 733-739
-
-
Topcu, M.1
Gartioux, C.2
Ribierre, F.3
Yalcinkaya, C.4
Tokus, E.5
Oztekin, N.6
Beckmann, J.S.7
Ozguc, M.8
Seboun, E.9
-
7
-
-
0035001589
-
Severe metabolic abnormalities in the white matter of patients with vacuolating megalencephalic leukoencephalopathy with subcortical cysts. A proton MR spectroscopic imaging study
-
De Stefano N., Balestri P., Dotti M.T., Grosso S., Mortilla M., Morgese G., Federico A. Severe metabolic abnormalities in the white matter of patients with vacuolating megalencephalic leukoencephalopathy with subcortical cysts. A proton MR spectroscopic imaging study. J Neurol. 248:2001;403-409.
-
(2001)
J Neurol
, vol.248
, pp. 403-409
-
-
De Stefano, N.1
Balestri, P.2
Dotti, M.T.3
Grosso, S.4
Mortilla, M.5
Morgese, G.6
Federico, A.7
-
8
-
-
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
-
9
-
-
0034820237
-
Demonstration of glycine peaks at 3.50 ppm in a patient with van der Knaap syndrome
-
Sener R.N. Demonstration of glycine peaks at 3.50 ppm in a patient with van der Knaap syndrome. Am J Neuroradiol. 22:2001;1587-1589.
-
(2001)
Am J Neuroradiol
, vol.22
, pp. 1587-1589
-
-
Sener, R.N.1
-
10
-
-
0030975392
-
A new leukoencephalopathy with vanishing white matter
-
van der Knaap M.S., Barth P.G., Gabreels F.J., Franzoni E., Begeer J.H., Stroink H., Rotteveel J.J., Valk J. A new leukoencephalopathy with vanishing white matter. Neurology. 48:1997;845-855.
-
(1997)
Neurology
, vol.48
, pp. 845-855
-
-
Van der Knaap, M.S.1
Barth, P.G.2
Gabreels, F.J.3
Franzoni, E.4
Begeer, J.H.5
Stroink, H.6
Rotteveel, J.J.7
Valk, J.8
-
11
-
-
0031721955
-
Phenotypic variation in leukoencephalopathy with vanishing white matter
-
van der Knaap M.S., Kamphorst W., Barth P.G., Kraaijeveld C.L., Gut E., Valk J. Phenotypic variation in leukoencephalopathy with vanishing white matter. Neurology. 51:1998;540-547.
-
(1998)
Neurology
, vol.51
, pp. 540-547
-
-
Van der Knaap, M.S.1
Kamphorst, W.2
Barth, P.G.3
Kraaijeveld, C.L.4
Gut, E.5
Valk, J.6
-
12
-
-
0033361759
-
The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27
-
Leegwater P.A., Konst A.A., Kuyt B., Sandkuijl L.A., Naidu S., Oudejans C.B., Schutgens R.B., Pronk J.C., van der Knaap M.S. The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27. Am J Hum Genet. 65:1999;728-734.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 728-734
-
-
Leegwater, P.A.1
Konst, A.A.2
Kuyt, B.3
Sandkuijl, L.A.4
Naidu, S.5
Oudejans, C.B.6
Schutgens, R.B.7
Pronk, J.C.8
Van der Knaap, M.S.9
-
14
-
-
0035137985
-
A Japanese girl with leukoencephalopathy with vanishing white matter
-
Sugiura C., Miyata H., Oka A., Takashima S., Ohama E., Takeshita K. A Japanese girl with leukoencephalopathy with vanishing white matter. Brain Dev. 23:2001;58-61.
-
(2001)
Brain Dev
, vol.23
, pp. 58-61
-
-
Sugiura, C.1
Miyata, H.2
Oka, A.3
Takashima, S.4
Ohama, E.5
Takeshita, K.6
-
15
-
-
0032732146
-
Increased cerebrospinal fluid glycine: A biochemical marker for a leukoencephalopathy with vanishing white matter
-
van der Knaap M.S., Wevers R.A., Kure S., Gabreels F.J., Verhoeven N.M., van Raaij-Selten B., Jaeken J. Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matter. J Child Neurol. 14:1999;728-731.
-
(1999)
J Child Neurol
, vol.14
, pp. 728-731
-
-
Van der Knaap, M.S.1
Wevers, R.A.2
Kure, S.3
Gabreels, F.J.4
Verhoeven, N.M.5
Van Raaij-Selten, B.6
Jaeken, J.7
-
16
-
-
0035220039
-
MR diffusion imaging and 1H spectroscopy in a child with medulloblastoma. A case report
-
Wilke M., Eidenschink A., Muller-Weihrich S., Auer D.P. MR diffusion imaging and 1H spectroscopy in a child with medulloblastoma. A case report. Acta Radiol. 42:2001;39-42.
-
(2001)
Acta Radiol
, vol.42
, pp. 39-42
-
-
Wilke, M.1
Eidenschink, A.2
Muller-Weihrich, S.3
Auer, D.P.4
-
17
-
-
0033289332
-
In vitro high resolution proton magnetic resonance study of human cerebellar development during the period from the fetus to childhood
-
Nishina M., Kato T., Ito M., Takashima S. In vitro high resolution proton magnetic resonance study of human cerebellar development during the period from the fetus to childhood. Physiol Chem Phys Med NMR. 31:1999;103-108.
-
(1999)
Physiol Chem Phys Med NMR
, vol.31
, pp. 103-108
-
-
Nishina, M.1
Kato, T.2
Ito, M.3
Takashima, S.4
-
18
-
-
0034099574
-
Proton NMR chemical shifts and coupling constants for brain metabolites
-
Govindaraju V., Young K., Maudsley A.A. Proton NMR chemical shifts and coupling constants for brain metabolites. NMR Biomed. 13:2000;129-153.
-
(2000)
NMR Biomed
, vol.13
, pp. 129-153
-
-
Govindaraju, V.1
Young, K.2
Maudsley, A.A.3
|