-
1
-
-
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
-
2
-
-
17344367164
-
GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier
-
Seidner G, Alvarez MG, Yeh JI, et al. GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Nat Genet. 1998;18:188-191.
-
(1998)
Nat Genet
, vol.18
, pp. 188-191
-
-
Seidner, G.1
Alvarez, M.G.2
Yeh, J.I.3
-
3
-
-
11144223212
-
Glut-1 deficiency syndrome: Clinical, genetic, and therapeutic aspects
-
Wang D, Pascual JM, Yang H, et al. Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. Ann Neurol. 2005;57: 111-118.
-
(2005)
Ann Neurol
, vol.57
, pp. 111-118
-
-
Wang, D.1
Pascual, J.M.2
Yang, H.3
-
4
-
-
77950286198
-
Glucose transporter-1 deficiency syndrome: The expanding clinical and genetic spectrum of a treatable disorder
-
Leen WG, Klepper J, Verbeek MM, et al. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain. 2010;133:655-670.
-
(2010)
Brain
, vol.133
, pp. 655-670
-
-
Leen, W.G.1
Klepper, J.2
Verbeek, M.M.3
-
5
-
-
27144454384
-
Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: A 2- to 5-year follow-up of 15 children enrolled prospectively
-
Klepper J, Scheffer H, Leiendecker B, et al. Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: A 2- to 5-year follow-up of 15 children enrolled prospectively. Neuropediatrics. 2005;36:302-308.
-
(2005)
Neuropediatrics
, vol.36
, pp. 302-308
-
-
Klepper, J.1
Scheffer, H.2
Leiendecker, B.3
-
6
-
-
20444486903
-
The six-minute walk test in healthy children: Reliability and validity
-
Li AM, Yin J, Yu CC, et al. The six-minute walk test in healthy children: reliability and validity. Eur Respir J. 2005; 25:1057-1060.
-
(2005)
Eur Respir J
, vol.25
, pp. 1057-1060
-
-
Li, A.M.1
Yin, J.2
Yu, C.C.3
-
7
-
-
43449115682
-
The six-minute walk test for children with cerebral palsy
-
Maher CA, Williams MT, Olds TS. The six-minute walk test for children with cerebral palsy. Int J Rehabil Res. 2008;31:185-188.
-
(2008)
Int J Rehabil Res
, vol.31
, pp. 185-188
-
-
Maher, C.A.1
Williams, M.T.2
Olds, T.S.3
-
8
-
-
77950210043
-
The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy
-
McDonald CM, Henricson EK, Han JJ, et al. The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy. Muscle Nerve. 2010;41:500-510.
-
(2010)
Muscle Nerve
, vol.41
, pp. 500-510
-
-
McDonald, C.M.1
Henricson, E.K.2
Han, J.J.3
-
9
-
-
77949369981
-
Six-minute walk test demonstrates motor fatigue in spinal muscular atrophy
-
Montes J, McDermott MP, Martens WB, et al. Six-minute walk test demonstrates motor fatigue in spinal muscular atrophy. Neurology. 2010;74:833-838.
-
(2010)
Neurology
, vol.74
, pp. 833-838
-
-
Montes, J.1
McDermott, M.P.2
Martens, W.B.3
-
10
-
-
0032946375
-
Erythrocyte 3-O-methyl-D-glucose uptake assay for diagnosis of glucosetransporter- protein syndrome
-
Klepper J, Garcia-Alvarez M, O'Driscoll KR, et al. Erythrocyte 3-O-methyl-D-glucose uptake assay for diagnosis of glucosetransporter- 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
-
11
-
-
0033850218
-
Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome
-
Wang D, Kranz-Eble P, De Vivo DC. Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. Hum Mutat. 2000;16:224-231.
-
(2000)
Hum Mutat
, vol.16
, pp. 224-231
-
-
Wang, D.1
Kranz-Eble, P.2
De Vivo, D.C.3
-
12
-
-
11144355448
-
Cerebral lactic acidosis correlates with neurological impairment in MELAS
-
Kaufmann P, Shungu DC, Sano MC, et al. Cerebral lactic acidosis correlates with neurological impairment in MELAS. Neurology. 2004;62:1297-1302.
-
(2004)
Neurology
, vol.62
, pp. 1297-1302
-
-
Kaufmann, P.1
Shungu, D.C.2
Sano, M.C.3
-
17
-
-
78650590519
-
Basic gait and symmetry measures for primary school-aged children and young adults. II: Walking at slow, free, and fast speed
-
Lythgo N, Wilson C, Galea M. Basic gait and symmetry measures for primary school-aged children and young adults. II: Walking at slow, free, and fast speed. Gait Posture. 2011; 33:29-35.
-
(2011)
Gait Posture
, vol.33
, pp. 29-35
-
-
Lythgo, N.1
Wilson, C.2
Galea, M.3
-
18
-
-
33947310954
-
Six-minute walk test in children and adolescents
-
Geiger R, Strasak A, Treml B, et al. Six-minute walk test in children and adolescents. J Pediatr. 2007;150:395-399.
-
(2007)
J Pediatr
, vol.150
, pp. 395-399
-
-
Geiger, R.1
Strasak, A.2
Treml, B.3
-
19
-
-
0035071905
-
Reference values for a multiple repetition 6-minute walk test in healthy adults older than 20 years
-
Gibbons WJ, Fruchter N, Sloan S, Levy RD. Reference values for a multiple repetition 6-minute walk test in healthy adults older than 20 years. J Cardiopulm Rehabil Prev. 2001;21:87-93.
-
(2001)
J Cardiopulm Rehabil Prev
, vol.21
, pp. 87-93
-
-
Gibbons, W.J.1
Fruchter, N.2
Sloan, S.3
Levy, R.D.4
-
20
-
-
0036791941
-
Imaging the metabolic footprint of Glut1 deficiency on the brain
-
Pascual JM, van Heertum RL, Wang D, et al. Imaging the metabolic footprint of Glut1 deficiency on the brain. Ann Neurol. 2002;52:458-464.
-
(2002)
Ann Neurol
, vol.52
, pp. 458-464
-
-
Pascual, J.M.1
Van Heertum, R.L.2
Wang, D.3
-
21
-
-
0032030166
-
A critical period of brain development: Studies of cerebral glucose utilization with PET
-
Chugani HT. A critical period of brain development: studies of cerebral glucose utilization with PET. Prev Med. 1998;27:184-188.
-
(1998)
Prev Med
, vol.27
, pp. 184-188
-
-
Chugani, H.T.1
-
22
-
-
0008096149
-
An evaluation of the treatment of phenylketonuria with diets low in phenylalanine
-
Knox WE. An evaluation of the treatment of phenylketonuria with diets low in phenylalanine. Pediatrics. 1960;26:1-11.
-
(1960)
Pediatrics
, vol.26
, pp. 1-11
-
-
Knox, W.E.1
-
23
-
-
0016279991
-
Natural history of phenylketonuria and influence of early treatment
-
Smith I, Wolff OH. Natural history of phenylketonuria and influence of early treatment. Lancet. 1974; 304:540-544.
-
(1974)
Lancet
, vol.304
, pp. 540-544
-
-
Smith, I.1
Wolff, O.H.2
-
24
-
-
84875826499
-
Glyoxalase i and its substrate methylglyoxal are novel regulators of seizures susceptibility
-
Distler MG, Gorfinkle N, Papale LA, et al. Glyoxalase I and its substrate methylglyoxal are novel regulators of seizures susceptibility. Epilepsia. 2013;54:649-657.
-
(2013)
Epilepsia
, vol.54
, pp. 649-657
-
-
Distler, M.G.1
Gorfinkle, N.2
Papale, L.A.3
-
25
-
-
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
-
26
-
-
45749108564
-
GLUT1 mutations are a cause of paroxysmal exercise-induced dyskinesias and induce hemolytic anemia by a cation leak
-
Weber YG, Storch A, Wuttke TV, et al. GLUT1 mutations are a cause of paroxysmal exercise-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest. 2008;118: 2157-2168.
-
(2008)
J Clin Invest
, vol.118
, pp. 2157-2168
-
-
Weber, Y.G.1
Storch, A.2
Wuttke, T.V.3
-
27
-
-
0018961771
-
Delayed-onset dystonia in patients with "static" encephalopathy
-
Burke RE, Fahn S, Gold AP. Delayed-onset dystonia in patients with "static" encephalopathy. J Neurol Neurosurg Psychiatry. 1980;43:789-797.
-
(1980)
J Neurol Neurosurg Psychiatry
, vol.43
, pp. 789-797
-
-
Burke, R.E.1
Fahn, S.2
Gold, A.P.3
-
28
-
-
0026065776
-
Delayed-onset dystonia due to perinatal or early childhood asphyxia
-
Saint Hilaire M-H, Burke RE, Bressman SB, et al. Delayed-onset dystonia due to perinatal or early childhood asphyxia. Neurology. 1991;41(2 pt 1):216-222.
-
(1991)
Neurology
, vol.41
, Issue.2
, pp. 216-222
-
-
Saint Hilaire, M.-H.1
Burke, R.E.2
Bressman, S.B.3
-
29
-
-
0029931408
-
Delayed-onset progressive movement disorders after static brain lesions
-
Scott BL, Jankovic J. Delayed-onset progressive movement disorders after static brain lesions. Neurology. 1996;46:68-74.
-
(1996)
Neurology
, vol.46
, pp. 68-74
-
-
Scott, B.L.1
Jankovic, J.2
-
31
-
-
0025076229
-
Hypoxic-ischemic damage of the basal ganglia: Case reports and a review of the literature
-
Hawker K, Lang AE. Hypoxic-ischemic damage of the basal ganglia: case reports and a review of the literature. Mov Disord. 1990;5:219-224.
-
(1990)
Mov Disord
, vol.5
, pp. 219-224
-
-
Hawker, K.1
Lang, A.E.2
-
32
-
-
0032167784
-
The human hypoxia-inducible factor 1a gene: HIF1 A structure and evolutionary conservation
-
Iyer NV, Leung SW, Semenza GL. The human hypoxia-inducible factor 1a gene: HIF1 A structure and evolutionary conservation. Genomics. 1998;52:159-165.
-
(1998)
Genomics
, vol.52
, pp. 159-165
-
-
Iyer, N.V.1
Leung, S.W.2
Semenza, G.L.3
-
33
-
-
0028068606
-
Transcriptional regulation of genes encoding glycolytic enzymes by hypoxiainducible factor 1
-
Semenza GL, Roth PH, Fang H-M, Wang GL. Transcriptional regulation of genes encoding glycolytic enzymes by hypoxiainducible factor 1. J Biol Chem. 1994;269:23757-23763.
-
(1994)
J Biol Chem
, vol.269
, pp. 23757-23763
-
-
Semenza, G.L.1
Roth, P.H.2
Fang, H.-M.3
Wang, G.L.4
-
34
-
-
0033435198
-
Induction of hypoxiainducible factor-1 (HIF-1) and its target genes following focal ischemia in rat brain
-
Bergeron M, Yu AY, Solway KE, et al. Induction of hypoxiainducible factor-1 (HIF-1) and its target genes following focal ischemia in rat brain. Eur J Neurosci. 1999;11:4159-4170.
-
(1999)
Eur J Neurosci
, vol.11
, pp. 4159-4170
-
-
Bergeron, M.1
Yu, A.Y.2
Solway, K.E.3
-
35
-
-
84927758754
-
Increased susceptibility of the Glut-1 knockout mouse to postnatal hypoxia [Abstract]
-
Rotstein M, Ullner PM, Yang H, et al. Increased susceptibility of the Glut-1 knockout mouse to postnatal hypoxia [Abstract]. Neurology. 2010;74:A442.
-
(2010)
Neurology
, vol.74
, pp. A442
-
-
Rotstein, M.1
Ullner, P.M.2
Yang, H.3
|