-
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
-
S. Akaboshi, B. Hogema, A. Novelletto, P. Malaspina, G.S. Salomons, G.D. Maropoulos, C. Jakobs, and K.M. Gibson 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 2003 442 450
-
(2003)
Hum. Mutat.
, vol.22
, pp. 442-450
-
-
Akaboshi, S.1
Hogema, B.2
Novelletto, A.3
Malaspina, P.4
Salomons, G.S.5
Maropoulos, G.D.6
Jakobs, C.7
Gibson, K.M.8
-
2
-
-
0034163249
-
Photosensitivity in juvenile myoclonic epilepsy
-
R. Appleton, M. Beirne, and B. Acomb Photosensitivity in juvenile myoclonic epilepsy Seizure 9 2000 108 111
-
(2000)
Seizure
, vol.9
, pp. 108-111
-
-
Appleton, R.1
Beirne, M.2
Acomb, B.3
-
3
-
-
0036208832
-
Patterns of linkage disequilibrium in the human genome
-
K.G. Ardlie, L. Kruglyak, and M. Seielstad Patterns of linkage disequilibrium in the human genome Nat. Rev. Genet. 3 2002 299 309
-
(2002)
Nat. Rev. Genet.
, vol.3
, pp. 299-309
-
-
Ardlie, K.G.1
Kruglyak, L.2
Seielstad, M.3
-
4
-
-
18644381319
-
Structure of human succinic semialdehyde dehydrogenase gene: Identification of promoter region and alternatively processed isoforms
-
P. Blasi, P.P. Boyl, M. Ledda, A. Novelletto, K.M. Gibson, C. Jakobs, B. Hogema, S. Akaboshi, F. Loreni, and P. Malaspina Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms Mol. Genet. Metab. 76 2002 348 362
-
(2002)
Mol. Genet. Metab.
, vol.76
, pp. 348-362
-
-
Blasi, P.1
Boyl, P.P.2
Ledda, M.3
Novelletto, A.4
Gibson, K.M.5
Jakobs, C.6
Hogema, B.7
Akaboshi, S.8
Loreni, F.9
Malaspina, P.10
-
5
-
-
0037442092
-
Population stratification and spurious allelic association
-
L.R. Cardon, and L.J. Palmer Population stratification and spurious allelic association Lancet 361 2003 598 604
-
(2003)
Lancet
, vol.361
, pp. 598-604
-
-
Cardon, L.R.1
Palmer, L.J.2
-
6
-
-
9644269233
-
Absence seizures in succinic semialdehyde dehydrogenase deficient mice: A model of juvenile absence epilepsy
-
M.A. Cortez, Y. Wu, K.M. Gibson, and O.C. Snead Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy Pharmacol. Biochem. Behav. 79 2004 547 553
-
(2004)
Pharmacol. Biochem. Behav.
, vol.79
, pp. 547-553
-
-
Cortez, M.A.1
Wu, Y.2
Gibson, K.M.3
Snead, O.C.4
-
7
-
-
2342594545
-
Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency
-
A. Dervent, K.M. Gibson, P.L. Pearl, G.S. Salomons, C. Jakobs, and C. Yalcinkaya Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency Clin. Neurophysiol. 115 2004 1417 1422
-
(2004)
Clin. Neurophysiol.
, vol.115
, pp. 1417-1422
-
-
Dervent, A.1
Gibson, K.M.2
Pearl, P.L.3
Salomons, G.S.4
Jakobs, C.5
Yalcinkaya, C.6
-
8
-
-
0041857847
-
Pedigree disequilibrium tests for multilocus haplotypes
-
F. Dudbridge Pedigree disequilibrium tests for multilocus haplotypes Genet. Epidemiol. 25 2003 115 121
-
(2003)
Genet. Epidemiol.
, vol.25
, pp. 115-121
-
-
Dudbridge, F.1
-
9
-
-
0033794938
-
Accuracy of haplotype frequency estimation for biallelic loci, via the expectation-maximization algorithm for unphased diploid genotype data
-
D. Fallin, and N.J. Schork Accuracy of haplotype frequency estimation for biallelic loci, via the expectation-maximization algorithm for unphased diploid genotype data Am. J. Hum. Genet. 67 2000 947 959
-
(2000)
Am. J. Hum. Genet.
, vol.67
, pp. 947-959
-
-
Fallin, D.1
Schork, N.J.2
-
10
-
-
0026841987
-
Evidence for multiple gene loci in the expression of the common generalized epilepsies
-
D.A. Greenberg, M. Durner, and A.V. Delgado-Escueta Evidence for multiple gene loci in the expression of the common generalized epilepsies Neurology 42 1992 56 62
-
(1992)
Neurology
, vol.42
, pp. 56-62
-
-
Greenberg, D.A.1
Durner, M.2
Delgado-Escueta, A.V.3
-
11
-
-
0033912851
-
Reproducibility and complications in gene searches: Linkage on chromosome 6, heterogeneity, association, and maternal inheritance in juvenile myoclonic epilepsy
-
D.A. Greenberg, M. Durner, M. Keddache, S. Shinnar, S.R. Resor, S.L. Moshe, D. Rosenbaum, J. Cohen, C. Harden, H. Kang, S. Wallace, D. Luciano, K. Ballaban-Gil, L. Tomasini, G. Zhou, I. Klotz, and E. Dicker Reproducibility and complications in gene searches: linkage on chromosome 6, heterogeneity, association, and maternal inheritance in juvenile myoclonic epilepsy Am. J. Hum. Genet. 66 2000 508 516
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 508-516
-
-
Greenberg, D.A.1
Durner, M.2
Keddache, M.3
Shinnar, S.4
Resor, S.R.5
Moshe, S.L.6
Rosenbaum, D.7
Cohen, J.8
Harden, C.9
Kang, H.10
Wallace, S.11
Luciano, D.12
Ballaban-Gil, K.13
Tomasini, L.14
Zhou, G.15
Klotz, I.16
Dicker, E.17
-
12
-
-
17144439967
-
Murine succinate semialdehyde dehydrogenase deficiency
-
M. Gupta, B.M. Hogema, M. Grompe, T.G. Bottiglieri, A. Concas, G. Biggio, C. Sogliano, A.E. Rigamonti, P.L. Pearl, O.C. Snead, C. Jakobs, and K.M. Gibson Murine succinate semialdehyde dehydrogenase deficiency Ann. Neurol. 54 Suppl. 6 2003 81 90
-
(2003)
Ann. Neurol.
, vol.54
, Issue.6 SUPPL.
, pp. 81-90
-
-
Gupta, M.1
Hogema, B.M.2
Grompe, M.3
Bottiglieri, T.G.4
Concas, A.5
Biggio, G.6
Sogliano, C.7
Rigamonti, A.E.8
Pearl, P.L.9
Snead, O.C.10
Jakobs, C.11
Gibson, K.M.12
-
13
-
-
0024317220
-
Proposal for revised classification of epilepsies and epileptic syndromes
-
Commission on Classification and Terminology of the International League Against Epilepsy
-
International League Against Epilepsy, Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy, Epilepsia, 30 (1989) 389-399.
-
(1989)
Epilepsia
, vol.30
, pp. 389-399
-
-
-
14
-
-
0344172777
-
Photic stimulation: Standardization of screening methods
-
D.G. Kasteleijn-Nolst Trenite, C.D. Binnie, G.F. Harding, and A. Wilkins Photic stimulation: standardization of screening methods Epilepsia 40 Suppl. 4 1999 75 79
-
(1999)
Epilepsia
, vol.40
, Issue.4 SUPPL.
, pp. 75-79
-
-
Kasteleijn-Nolst Trenite, D.G.1
Binnie, C.D.2
Harding, G.F.3
Wilkins, A.4
-
15
-
-
0033006003
-
Allelic discrimination using fluorogenic probes and the 5′ nuclease assay
-
K.J. Livak Allelic discrimination using fluorogenic probes and the 5′ nuclease assay Genet. Anal. 14 1999 143 149
-
(1999)
Genet. Anal.
, vol.14
, pp. 143-149
-
-
Livak, K.J.1
-
16
-
-
19444378357
-
No association between common variations in the human alpha 2 subunit gene (ATP1A2) of the sodium-potassium-transporting ATPase and idiopathic generalized epilepsy
-
F.W. Lohoff, T.N. Ferraro, T. Sander, H. Zhao, J.P. Dahl, W.H. Berrettini, and R.J. Buono No association between common variations in the human alpha 2 subunit gene (ATP1A2) of the sodium-potassium-transporting ATPase and idiopathic generalized epilepsy Neurosci. Lett. 382 2005 33 38
-
(2005)
Neurosci. Lett.
, vol.382
, pp. 33-38
-
-
Lohoff, F.W.1
Ferraro, T.N.2
Sander, T.3
Zhao, H.4
Dahl, J.P.5
Berrettini, W.H.6
Buono, R.J.7
-
17
-
-
16844366786
-
Genome-wide strategies for detecting multiple loci that influence complex diseases
-
J. Marchini, P. Donnelly, and L.R. Cardon Genome-wide strategies for detecting multiple loci that influence complex diseases Nat. Genet. 37 2005 413 417
-
(2005)
Nat. Genet.
, vol.37
, pp. 413-417
-
-
Marchini, J.1
Donnelly, P.2
Cardon, L.R.3
-
18
-
-
0042357395
-
The biology of epilepsy genes
-
J.L. Noebels The biology of epilepsy genes Annu. Rev. Neurosci. 26 2003 599 625
-
(2003)
Annu. Rev. Neurosci.
, vol.26
, pp. 599-625
-
-
Noebels, J.L.1
-
20
-
-
0038221058
-
Clinical spectrum of succinic semialdehyde dehydrogenase deficiency
-
P.L. Pearl, K.M. Gibson, M.T. Acosta, L.G. Vezina, W.H. Theodore, M.A. Rogawski, E.J. Novotny, A. Gropman, J.A. Conry, G.T. Berry, and M. Tuchman Clinical spectrum of succinic semialdehyde dehydrogenase deficiency Neurology 60 2003 1413 1417
-
(2003)
Neurology
, vol.60
, pp. 1413-1417
-
-
Pearl, P.L.1
Gibson, K.M.2
Acosta, M.T.3
Vezina, L.G.4
Theodore, W.H.5
Rogawski, M.A.6
Novotny, E.J.7
Gropman, A.8
Conry, J.A.9
Berry, G.T.10
Tuchman, M.11
-
21
-
-
0032542897
-
What's wrong with Bonferroni adjustments
-
T.V. Perneger What's wrong with Bonferroni adjustments BMJ 316 1998 1236 1238
-
(1998)
BMJ
, vol.316
, pp. 1236-1238
-
-
Perneger, T.V.1
-
22
-
-
3042740807
-
A functional polymorphism in the succinate-semialdehyde dehydrogenase (aldehyde dehydrogenase 5 family, member A1) gene is associated with cognitive ability
-
R. Plomin, D.M. Turic, L. Hill, D.E. Turic, M. Stephens, J. Williams, M.J. Owen, and M.C. O'Donovan A functional polymorphism in the succinate-semialdehyde dehydrogenase (aldehyde dehydrogenase 5 family, member A1) gene is associated with cognitive ability Mol. Psychiatry 9 2004 582 586
-
(2004)
Mol. Psychiatry
, vol.9
, pp. 582-586
-
-
Plomin, R.1
Turic, D.M.2
Hill, L.3
Turic, D.E.4
Stephens, M.5
Williams, J.6
Owen, M.J.7
O'Donovan, M.C.8
-
23
-
-
0034969437
-
Are rare variants responsible for susceptibility to complex diseases?
-
J.K. Pritchard Are rare variants responsible for susceptibility to complex diseases? Am. J. Hum. Genet. 69 2001 124 137
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 124-137
-
-
Pritchard, J.K.1
-
24
-
-
0035451780
-
On the allelic spectrum of human disease
-
D.E. Reich, and E.S. Lander On the allelic spectrum of human disease Trends Genet. 17 2001 502 510
-
(2001)
Trends Genet.
, vol.17
, pp. 502-510
-
-
Reich, D.E.1
Lander, E.S.2
-
25
-
-
0030882485
-
Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6
-
T. Sander, B. Bockenkamp, T. Hildmann, R. Blasczyk, R. Kretz, T.F. Wienker, A. Volz, B. Schmitz, G. Beck-Mannagetta, O. Riess, J.T. Epplen, D. Janz, and A. Ziegler Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6 Neurology 49 1997 842 847
-
(1997)
Neurology
, vol.49
, pp. 842-847
-
-
Sander, T.1
Bockenkamp, B.2
Hildmann, T.3
Blasczyk, R.4
Kretz, R.5
Wienker, T.F.6
Volz, A.7
Schmitz, B.8
Beck-Mannagetta, G.9
Riess, O.10
Epplen, J.T.11
Janz, D.12
Ziegler, A.13
-
27
-
-
0346732961
-
Ethnicity-independent genetic basis of functional psychoses: A genotype-to-phenotype approach
-
H.H. Stassen, R. Bridler, D. Hell, M. Weisbrod, and C. Scharfetter Ethnicity-independent genetic basis of functional psychoses: a genotype-to-phenotype approach Am. J. Med. Genet. B., Neuropsychiatr. Genet. 124 2004 101 112
-
(2004)
Am. J. Med. Genet. B., Neuropsychiatr. Genet.
, vol.124
, pp. 101-112
-
-
Stassen, H.H.1
Bridler, R.2
Hell, D.3
Weisbrod, M.4
Scharfetter, C.5
-
28
-
-
20444384725
-
Genetic dissection of photosensitivity and its relation to idiopathic generalized epilepsy
-
U. Tauer, S. Lorenz, K.P. Lenzen, A. Heils, H. Muhle, M. Gresch, B.A. Neubauer, S. Waltz, G. Rudolf, M. Mattheisen, K. Strauch, P. Nürnberg, B. Schmitz, U. Stephani, and T. Sander Genetic dissection of photosensitivity and its relation to idiopathic generalized epilepsy Ann. Neurol. 57 2005 866 873
-
(2005)
Ann. Neurol.
, vol.57
, pp. 866-873
-
-
Tauer, U.1
Lorenz, S.2
Lenzen, K.P.3
Heils, A.4
Muhle, H.5
Gresch, M.6
Neubauer, B.A.7
Waltz, S.8
Rudolf, G.9
Mattheisen, M.10
Strauch, K.11
Nürnberg, P.12
Schmitz, B.13
Stephani, U.14
Sander, T.15
-
30
-
-
0042367510
-
GABA, gamma-hydroxybutyric acid, and neurological disease
-
C.G. Wong, T. Bottiglieri, and O.C. Snead GABA, gamma-hydroxybutyric acid, and neurological disease Ann. Neurol. 54 Suppl. 6 2003 3 12
-
(2003)
Ann. Neurol.
, vol.54
, Issue.6 SUPPL.
, pp. 3-12
-
-
Wong, C.G.1
Bottiglieri, T.2
Snead, O.C.3
|