-
1
-
-
0346993682
-
Mutational Spectrum of the Succinate Semialdehyde Dehydrogenase (ALDH5A1) Gene and Functional Analysis of 27 Novel Disease-Causing Mutations in Patients with SSADH Deficiency
-
DOI 10.1002/humu.10288
-
Akaboshi S, Hogema BM, Novelletto A, et al (2003) Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. Hum Mutat 22: 442-450. doi:10.1002/humu.10288 (Pubitemid 38009947)
-
(2003)
Human Mutation
, vol.22
, Issue.6
, pp. 442-450
-
-
Akaboshi, S.1
Hogema, B.M.2
Novelletto, A.3
Malaspina, P.4
Salomons, G.S.5
Maropoulos, G.D.6
Jakobs, C.7
Grompe, M.8
Gibson, K.M.9
-
2
-
-
18644381319
-
Structure of human succinic semialdehyde dehydrogenase gene: Identification of promoter region and alternatively processed isoforms
-
doi:10.1016/S1096-7192(02)00105-1
-
Blasi P, Boyl PP, Ledda M, et al (2002) Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms. Mol Genet Metab 76: 348-362. doi:10.1016/S1096-7192(02)00105-1
-
(2002)
Mol Genet Metab
, vol.76
, pp. 348-362
-
-
Blasi, P.1
Boyl, P.P.2
Ledda, M.3
-
3
-
-
34248564911
-
Sweep visual evoked potential testing as a predictor of recognition acuity in albinism
-
DOI 10.1001/archopht.125.5.628
-
Bradfield YS, France TD, Verhoeve J, Gangnon RE (2007) Sweep visual evoked potential testing as a predictor of recognition acuity in albinism. Arch Ophthalmol 125: 628-633. doi:10.1001/archopht.125.5.628 (Pubitemid 46762723)
-
(2007)
Archives of Ophthalmology
, vol.125
, Issue.5
, pp. 628-633
-
-
Bradfield, Y.S.1
France, T.D.2
Verhoeve, J.3
Gangnon, R.E.4
-
4
-
-
0001117141
-
Urinary organic acids in succinic semialdehyde dehydrogenase deficiency: Evidence of alpha-oxidation of 4-hydroxybutyric acid, interaction of succinic semialdehyde with pyruvate dehydrogenase and possible secondary inhibition of mitochondrial beta-oxidation
-
DOI 10.1007/BF01799979
-
Brown GK, Cromby CH, Manning NJ, Pollitt RJ (1987) Urinary organic acids in succinic semialdehyde dehydrogenase deficiency: evidence of alpha-oxidation of 4-hydroxybutyric acid, interaction of succinic semialdehyde with pyruvate dehydrogenase and possible secondary inhibition of mitochondrial beta-oxidation. J Inherit Metab Dis 10: 367-375. doi:10.1007/BF01799979 (Pubitemid 18009388)
-
(1987)
Journal of Inherited Metabolic Disease
, vol.10
, Issue.4
, pp. 367-375
-
-
Brown, G.K.1
Cromby, C.H.2
Manning, N.J.3
Pollitt, R.J.4
-
5
-
-
33744549466
-
B receptor-mediated function
-
DOI 10.1016/j.brainres.2006.02.131, PII S0006899306005993
-
Buzzi A, Wu Y, Frantseva MV, et al (2006) Succinic semialdehyde dehydrogenase deficiency: GABAB receptormediated function. Brain Res 1090: 15-22. doi:10.1016/j.brainres.2006.02.131 (Pubitemid 43817924)
-
(2006)
Brain Research
, vol.1090
, Issue.1
, pp. 15-22
-
-
Buzzi, A.1
Wu, Y.2
Frantseva, M.V.3
Perez, V.J.L.4
Cortez, M.A.5
Liu, C.C.6
Shen, L.Q.7
Gibson, K.M.8
Snead III, O.C.9
-
6
-
-
67649592855
-
Visual evoked potentials and electroretinograms
-
Niedermeyer E, Lopes Da Silva F, eds. Baltimore: Lippincott Williams & Wilkins
-
Celesia GG, Peachey NS (1999) Visual evoked potentials and electroretinograms. In: Electroencephalography. Basic Principles, Clinical Applications, and Related Fields. Niedermeyer E, Lopes Da Silva F, eds. Baltimore: Lippincott Williams & Wilkins, 968-993.
-
(1999)
Electroencephalography. Basic Principles, Clinical Applications, and Related Fields
, pp. 968-993
-
-
Celesia, G.G.1
Peachey, N.S.2
-
7
-
-
0022607641
-
Sensory evoked potentials in Wilson-s disease
-
Chu NS (1986) Sensory evoked potentials in Wilson-s disease. Brain 109(3): 491-507.
-
(1986)
Brain
, vol.109
, Issue.3
, pp. 491-507
-
-
Chu, N.S.1
-
8
-
-
84897582712
-
Contiguous and serial recordings of BAEPs and VEPs in premature infants who did and did not sustain hemorrhage and/or periventricular leukomalacia
-
Gallai V, ed. New York: Excerpta Medica
-
Crutchfield SR, Harding GFA, Durbin GM (1986) Contiguous and serial recordings of BAEPs and VEPs in premature infants who did and did not sustain hemorrhage and/or periventricular leukomalacia. In: Gallai V, ed. Maturation of the CNS and Evoked Potentials. New York: Excerpta Medica.
-
(1986)
Maturation of the CNS and Evoked Potentials
-
-
Crutchfield, S.R.1
Harding, G.F.A.2
Durbin, G.M.3
-
9
-
-
54249107239
-
Succinic semialdehyde dehydrogenase deficiency: Phenotype evolution in an adolescent patient at 20-year follow-up
-
Crutchfield SR, Haas RH, Nyhan WL, Gibson KM (2008) Succinic semialdehyde dehydrogenase deficiency: phenotype evolution in an adolescent patient at 20-year follow-up. Dev Med Child Neurol 50: 880-881.
-
(2008)
Dev Med Child Neurol
, vol.50
, pp. 880-881
-
-
Crutchfield, S.R.1
Haas, R.H.2
Nyhan, W.L.3
Gibson, K.M.4
-
10
-
-
34247113694
-
A study of clinical, MRI and multimodality evoked potentials in neurologic Wilson disease
-
doi:10.1111/j.1468-1331.2006.01676.x
-
Das M, Misra UK, Kalita J (2007) A study of clinical, MRI and multimodality evoked potentials in neurologic Wilson disease. Eur J Neurol 14: 498-504. doi:10.1111/j.1468-1331.2006.01676.x
-
(2007)
Eur J Neurol
, vol.14
, pp. 498-504
-
-
Das, M.1
Misra, U.K.2
Kalita, J.3
-
11
-
-
33645314048
-
GABA(A), GABA(C) and glycine receptor-mediated inhibition differentially affects light-evoked signaling from mouse retinal rod bipolar cells
-
Eggers ED, Lukasiewicz PD (2006) GABA(A), GABA(C) and glycine receptor-mediated inhibition differentially affects light-evoked signaling from mouse retinal rod bipolar cells. J Physiol 572: 215-225.
-
(2006)
J Physiol
, vol.572
, pp. 215-225
-
-
Eggers, E.D.1
Lukasiewicz, P.D.2
-
12
-
-
0023920123
-
4-Hydroxybutyric aciduria in a patient without ataxia or convulsions
-
doi:10.1007/BF00441983
-
Gibson KM, Hoffmann G, Nyhan WL, et al (1988) 4-Hydroxybutyric aciduria in a patient without ataxia or convulsions. Eur J Pediatr 147: 529-531. doi:10.1007/BF00441983
-
(1988)
Eur J Pediatr
, vol.147
, pp. 529-531
-
-
Gibson, K.M.1
Hoffmann, G.2
Nyhan, W.L.3
-
13
-
-
0142072084
-
Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria)
-
DOI 10.1016/S0006-3223(03)00113-6
-
Gibson KM, Gupta M, Pearl PL, et al (2003) Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria). Biol Psychiatry 54: 763-768. doi:10.1016/S0006-3223(03)00113-6 (Pubitemid 37281394)
-
(2003)
Biological Psychiatry
, vol.54
, Issue.7
, pp. 763-768
-
-
Gibson, K.M.1
Gupta, M.2
Pearl, P.L.3
Tuchman, M.4
Vezina, L.G.5
Snead III, O.C.6
Smit, L.M.E.7
Jakobs, C.8
-
14
-
-
13944255380
-
Reduced visual function associated with infantile spasms in children on vigabatrin therapy
-
DOI 10.1167/iovs.04-0559
-
Hammoudi DS, Lee SS, Madison A, et al (2005) Reduced visual function associated with infantile spasms in children on vigabatrin therapy. Invest Ophthalmol Vis Sci 46: 514-520. doi:10.1167/iovs.04-0559 (Pubitemid 40270329)
-
(2005)
Investigative Ophthalmology and Visual Science
, vol.46
, Issue.2
, pp. 514-520
-
-
Hammoudi, D.S.1
Lee, S.S.F.2
Madison, A.3
Mirabella, G.4
Buncic, J.R.5
Logan, W.J.6
Snead, O.C.7
Westall, C.A.8
-
15
-
-
0033761344
-
Electrooculography, electroretinography, visual evoked potentials, and multifocal electroretinography in patients with vigabatrin-attributed visual field constriction
-
doi:10.1111/j.1528-1157.2000.tb00117.x
-
Harding GF, Wild JM, Robertson KA, et al (2000) Electrooculography, electroretinography, visual evoked potentials, and multifocal electroretinography in patients with vigabatrin-attributed visual field constriction. Epilepsia 41: 1420-1431. doi:10.1111/j.1528-1157.2000.tb00117.x
-
(2000)
Epilepsia
, vol.41
, pp. 1420-1431
-
-
Harding, G.F.1
Wild, J.M.2
Robertson, K.A.3
-
16
-
-
37549032759
-
Enantioselective actions of 4-amino-3-hydroxybutanoic acid and (3-amino-2-hydroxypropyl)methylphosphinic acid at recombinant GABA(C) receptors
-
doi:10.1016/j.bmcl.2007.10.019
-
Hinton T, Chebib M, Johnston GA (2008) Enantioselective actions of 4-amino-3-hydroxybutanoic acid and (3-amino-2-hydroxypropyl)methylphosphinic acid at recombinant GABA(C) receptors. Bioorg Med Chem Lett 18: 402-404. doi:10.1016/j.bmcl.2007.10.019
-
(2008)
Bioorg Med Chem Lett
, vol.18
, pp. 402-404
-
-
Hinton, T.1
Chebib, M.2
Johnston, G.A.3
-
17
-
-
34247275126
-
Perceptual relevance of abnormal visual field representations: Static visual field perimetry in human albinism
-
DOI 10.1136/bjo.2006.094854
-
Hoffmann MB, Seufert PS, Schmidtborn LC (2007) Perceptual relevance of abnormal visual field representations: static visual field perimetry in human albinism. Br J Ophthalmol 91: 509-513. doi:10.1136/bjo.2006.094854 (Pubitemid 46623687)
-
(2007)
British Journal of Ophthalmology
, vol.91
, Issue.4
, pp. 509-513
-
-
Hoffmann, M.B.1
Seufert, P.S.2
Schmidtborn, L.C.3
-
18
-
-
0020019707
-
Evaluation of cerebral function in newborn infants with fetal growth retardation
-
Hrbek A, Iversen K, Olsson T (1982) Evaluation of cerebral function in newborn infants with fetal growth retardation. Adv Neurol 32: 89-95.
-
(1982)
Adv Neurol
, vol.32
, pp. 89-95
-
-
Hrbek, A.1
Iversen, K.2
Olsson, T.3
-
19
-
-
33748650796
-
Neurophysiologic studies in Krabbe disease
-
Husain AM (2006) Neurophysiologic studies in Krabbe disease. Suppl Clin Neurophysiol 59: 289-298.
-
(2006)
Suppl Clin Neurophysiol
, vol.59
, pp. 289-298
-
-
Husain, A.M.1
-
20
-
-
0022507002
-
Neurotransmitters in the cerebral cortex
-
Jones EG (1986) Neurotransmitters in the cerebral cortex. J Neurosurg 65: 135-153.
-
(1986)
J Neurosurg
, vol.65
, pp. 135-153
-
-
Jones, E.G.1
-
21
-
-
0032721611
-
Visual field defects associated with vigabatrin therapy
-
doi:10.1136/jnnp.67.6.716
-
Lawden MC, Eke T, Degg C, Harding GF, Wild JM (1999) Visual field defects associated with vigabatrin therapy. J Neurol Neurosurg Psychiatry 67: 716-722. doi:10.1136/jnnp.67.6.716
-
(1999)
J Neurol Neurosurg Psychiatry
, vol.67
, pp. 716-722
-
-
Lawden, M.C.1
Eke, T.2
Degg, C.3
Harding, G.F.4
Wild, J.M.5
-
22
-
-
0031595433
-
Different combinations of GABA(A) and GABA(C) receptors confer distinct temporal properties to retinal synaptic responses
-
Lukasiewicz PD, Shields CR (1998) Different combinations of GABAA and GABAC receptors confer distinct temporal properties to retinal synaptic responses. J Neurophysiol 79: 3157-3167. (Pubitemid 28317042)
-
(1998)
Journal of Neurophysiology
, vol.79
, Issue.6
, pp. 3157-3167
-
-
Lukasiewicz, P.D.1
Shields, C.R.2
-
24
-
-
0042868561
-
Magnetic resonance spectroscopy of neurotransmitters in human brain
-
DOI 10.1002/ana.10697
-
Novotny EJ, Jr., Fulbright RK, Pearl PL, Gibson KM, Rothman DL (2003) Magnetic resonance spectroscopy of neurotransmitters in human brain. Ann Neurol 54 Supplement 6: S25-31. doi:10.1002/ana.10697 (Pubitemid 36903851)
-
(2003)
Annals of Neurology
, vol.54
, Issue.SUPPL. 6
-
-
Novotny Jr., E.J.1
Fulbright, R.K.2
Pearl, P.L.3
Gibson, K.M.4
Rothman, D.L.5
-
26
-
-
67349214570
-
-
Program No. 3.029. Abstract Viewer. Philadelphia, PA: American Epilepsy Society
-
Reis J, Cohen LG, Pearl PL, Gibson KM, Dustin I, Theodore WH (2007) Transcranial Magnetic Stimulation reveals altered Cortical Excitability in Succinic Semialdehyde Dehydrogenase Deficiency. Program No. 3.029. Abstract Viewer. Philadelphia, PA: American Epilepsy Society.
-
(2007)
Transcranial Magnetic Stimulation Reveals Altered Cortical Excitability in Succinic Semialdehyde Dehydrogenase Deficiency
-
-
Reis, J.1
Cohen, L.G.2
Pearl, P.L.3
Gibson, K.M.4
Dustin, I.5
Theodore, W.H.6
-
27
-
-
0016592935
-
Comparative symptomatological and evoked potential studies with d -amphetamine, thioridazine, and placebo in hyperkinetic children
-
Saletu B, Saletu M, Simeon J, Viamontes G, Itil TM (1975) Comparative symptomatological and evoked potential studies with d -amphetamine, thioridazine, and placebo in hyperkinetic children. Biol Psychiatry 10 : 253-275.
-
(1975)
Biol Psychiatry
, vol.10
, pp. 253-275
-
-
Saletu, B.1
Saletu, M.2
Simeon, J.3
Viamontes, G.4
Itil, T.M.5
-
28
-
-
0026439146
-
Effects of high-dose gamma-vinyl GABA (vigabatrin) administration on visual and somatosensory evoked potentials in dogs
-
doi:10.1111/j.1528-1157.1992.tb05896.x
-
Schroeder CE, Gibson JP, Yarrington J, Heydorn WE, Sussman NM, Arezzo JC (1992) Effects of high-dose gamma-vinyl GABA (vigabatrin) administration on visual and somatosensory evoked potentials in dogs. Epilepsia 33Supplement 5: S13-25. doi:10.1111/j.1528-1157.1992.tb05896.x
-
(1992)
Epilepsia
, vol.33
, Issue.SUPPL. 5
-
-
Schroeder, C.E.1
Gibson, J.P.2
Yarrington, J.3
Heydorn, W.E.4
Sussman, N.M.5
Arezzo, J.C.6
-
29
-
-
29944446392
-
A receptor-mediated mechanisms
-
DOI 10.1002/ana.20686
-
Wu Y, Buzzi A, Frantseva MV, et al (2006) Status epilepticus in mice deficient for succinate semialdehyde dehydrogenase: GABAA receptor-mediated mechanisms. Ann Neurol 59: 42-52. doi:10.1002/ana.20686 (Pubitemid 43042870)
-
(2006)
Annals of Neurology
, vol.59
, Issue.1
, pp. 42-52
-
-
Wu, Y.1
Buzzi, A.2
Frantseva, M.3
Velazquez, J.P.L.4
Cortez, M.5
Liu, C.6
Shen, L.7
Gibson, K.M.8
Snead III, O.C.9
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