-
1
-
-
34648839893
-
The treatment and management of alternating hemiplegia of childhood
-
Neville BG, Ninan M. The treatment and management of alternating hemiplegia of childhood. Dev Med Child Neurol. 2007 ; 49: 777-780
-
(2007)
Dev Med Child Neurol
, vol.49
, pp. 777-780
-
-
Neville, B.G.1
Ninan, M.2
-
2
-
-
0034491681
-
Alternating hemiplegia of childhood: No mutations in the familial hemiplegic migraine CACNA1A gene
-
Haan J, Kors EE, Terwindt GM, et al. Alternating hemiplegia of childhood: no mutations in the familial hemiplegic migraine CACNA1A gene. Cephalalgia. 2000 ; 20: 696-700
-
(2000)
Cephalalgia
, vol.20
, pp. 696-700
-
-
Haan, J.1
Kors, E.E.2
Terwindt, G.M.3
-
3
-
-
8844243257
-
Alternating hemiplegia of childhood: No mutations in the second familial hemiplegic migraine gene ATP1A2
-
Kors EE, Vanmolkot KR, Haan J, et al. Alternating hemiplegia of childhood: no mutations in the second familial hemiplegic migraine gene ATP1A2. Neuropediatrics. 2004 ; 35: 293-296
-
(2004)
Neuropediatrics
, vol.35
, pp. 293-296
-
-
Kors, E.E.1
Vanmolkot, K.R.2
Haan, J.3
-
4
-
-
33846640135
-
Alternating hemiplegia of childhood: No mutations in the glutamate transporter EAAT1
-
de Vries B, Haan J, Stam AH, et al. Alternating hemiplegia of childhood: no mutations in the glutamate transporter EAAT1. Neuropediatrics. 2006 ; 37: 302-304
-
(2006)
Neuropediatrics
, vol.37
, pp. 302-304
-
-
De Vries, B.1
Haan, J.2
Stam, A.H.3
-
5
-
-
73349111280
-
Glut1 deficiency and alternating hemiplegia of childhood
-
Rotstein M, Doran J, Yang H, et al. Glut1 deficiency and alternating hemiplegia of childhood. Neurology. 2009 ; 73: 2042-2044
-
(2009)
Neurology
, vol.73
, pp. 2042-2044
-
-
Rotstein, M.1
Doran, J.2
Yang, H.3
-
6
-
-
0025819954
-
Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay
-
De Vivo DC, Trifiletti RR, Jacobson RI, et al. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med. 1991 ; 325: 703-709
-
(1991)
N Engl J Med
, vol.325
, pp. 703-709
-
-
De Vivo, D.C.1
Trifiletti, R.R.2
Jacobson, R.I.3
-
7
-
-
77649108153
-
The spectrum of movement disorders in Glut-1 deficiency
-
Pons R, Collins A, Rotstein M, et al. The spectrum of movement disorders in Glut-1 deficiency. Mov Disord. 2010 ; 25: 275-281
-
(2010)
Mov Disord
, vol.25
, pp. 275-281
-
-
Pons, R.1
Collins, A.2
Rotstein, M.3
-
8
-
-
57349097209
-
Abnormal cerebral glucose metabolism in alternating hemiplegia of childhood
-
Sasaki M, Sakuma H, Fukushima A, et al. Abnormal cerebral glucose metabolism in alternating hemiplegia of childhood. Brain Dev. 2009 ; 31: 20-26
-
(2009)
Brain Dev
, vol.31
, pp. 20-26
-
-
Sasaki, M.1
Sakuma, H.2
Fukushima, A.3
-
9
-
-
63149144583
-
Alternating hemiplegia of childhood: Early characteristics and evolution of a neurodevelopmental syndrome
-
Sweney MT, Silver K, Gerard-Blanluet M, et al. Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome. Pediatrics. 2009 ; 123: e534 - e541
-
(2009)
Pediatrics
, vol.123
-
-
Sweney, M.T.1
Silver, K.2
Gerard-Blanluet, M.3
-
10
-
-
80054888031
-
Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect
-
Weber YG, Kamm C, Suls A, et al. Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. Neurology. 2011 ; 77: 959-964
-
(2011)
Neurology
, vol.77
, pp. 959-964
-
-
Weber, Y.G.1
Kamm, C.2
Suls, A.3
-
11
-
-
46849102968
-
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1
-
Suls A, Dedeken P, Goffin K, et al. Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain. 2008 ; 131: 1831-1844
-
(2008)
Brain
, vol.131
, pp. 1831-1844
-
-
Suls, A.1
Dedeken, P.2
Goffin, K.3
-
12
-
-
79953250552
-
Absence of mutation in the SLC2A1 gene in a cohort of patients with alternating hemiplegia of childhood (AHC)
-
Vuillaumier-Barrot S, Panagiotakaki E, Le Bizec C, et al. Absence of mutation in the SLC2A1 gene in a cohort of patients with alternating hemiplegia of childhood (AHC). Neuropediatrics. 2010 ; 41: 267-269
-
(2010)
Neuropediatrics
, vol.41
, pp. 267-269
-
-
Vuillaumier-Barrot, S.1
Panagiotakaki, E.2
Le Bizec, C.3
-
13
-
-
84655161428
-
Alternating hemiplegia of childhood: Metabolic studies in the largest European series of patients
-
Fons C, Campistol J, Panagiotakaki E, et al. Alternating hemiplegia of childhood: metabolic studies in the largest European series of patients. Eur J Paediatr Neurol. 2012 ; 16: 10-14
-
(2012)
Eur J Paediatr Neurol
, vol.16
, pp. 10-14
-
-
Fons, C.1
Campistol, J.2
Panagiotakaki, E.3
-
14
-
-
0032946375
-
Erythrocyte 3-O-methyl-D-glucose uptake assay for diagnosis of glucose-transporter-protein syndrome
-
Klepper J, Garcia-Alvarez M, O'Driscoll KR, et al. Erythrocyte 3-O-methyl-D-glucose uptake assay for diagnosis of glucose-transporter-protein syndrome. J Clin Lab Anal. 1999 ; 13: 116-121
-
(1999)
J Clin Lab Anal
, vol.13
, pp. 116-121
-
-
Klepper, J.1
Garcia-Alvarez, M.2
O'Driscoll, K.R.3
-
15
-
-
77951975749
-
Uncovering microdeletions in patients with severe Glut-1 deficiency syndrome using SNP oligonucleotide microarray analysis
-
Levy B, Wang D, Ullner PM, et al. Uncovering microdeletions in patients with severe Glut-1 deficiency syndrome using SNP oligonucleotide microarray analysis. Mol Genet Metab. 2010 ; 100: 129-135
-
(2010)
Mol Genet Metab
, vol.100
, pp. 129-135
-
-
Levy, B.1
Wang, D.2
Ullner, P.M.3
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