-
1
-
-
0344672944
-
Mutations of sodium channel α subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures
-
DOI 10.1093/brain/awg053
-
Fujiwara T., Sugawara T., Mazaki-Miyazaki E., et al. Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain. 2003 ; 126 (3). 531-546. (Pubitemid 36240855)
-
(2003)
Brain
, vol.126
, Issue.3
, pp. 531-546
-
-
Fujiwara, T.1
Sugawara, T.2
Mazaki-Miyazaki, E.3
Takahashi, Y.4
Fukushima, K.5
Watanabe, M.6
Hara, K.7
Morikawa, T.8
Yagi, K.9
Yamakawa, K.10
Inoue, Y.11
-
2
-
-
23644433461
-
SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures
-
DOI 10.1055/s-2005-865607
-
Ebach K., Joss H., Doose H., et al. SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. Neuropediatrics. 2005 ; 36 (3). 210-213. (Pubitemid 41117119)
-
(2005)
Neuropediatrics
, vol.36
, Issue.3
, pp. 210-213
-
-
Ebach, K.1
Joos, H.2
Doose, H.3
Stephani, U.4
Kurlemann, G.5
Fiedler, B.6
Hahn, A.7
Hauser, E.8
Hundt, K.9
Holthausen, H.10
Muller, U.11
Neubauer, B.A.12
-
3
-
-
0035933047
-
Epileptic phenotypes associated with mitochondrial disorders
-
Canafoglia L., Franceschetti S., Antozzi C., et al. Epileptic phenotypes associated with mitochondrial disorders. Neurology. 2001 ; 56 (10). 1340-1346. (Pubitemid 32455295)
-
(2001)
Neurology
, vol.56
, Issue.10
, pp. 1340-1346
-
-
Canafoglia, L.1
Franceschetti, S.2
Antozzi, C.3
Carrara, F.4
Farina, L.5
Granata, T.6
Lamantea, E.7
Savoiardo, M.8
Uziel, G.9
Villani, F.10
Zeviani, M.11
Avanzini, G.12
-
4
-
-
77954477989
-
Epileptic phenotypes in children with respiratory chain disorders
-
El Sabbagh S., Lebre AS, Bahi-Buisson N., et al. Epileptic phenotypes in children with respiratory chain disorders. Epilepsia. 2010 ; 51 (7). 1225-1235.
-
(2010)
Epilepsia.
, vol.51
, Issue.7
, pp. 1225-1235
-
-
El Sabbagh, S.1
Lebre, A.S.2
Bahi-Buisson, N.3
-
5
-
-
56849108261
-
Mitochondrial disease in autism spectrum disorder patients: A cohort analysis
-
Weissman JR, Kelley RI, Bauman ML, et al. Mitochondrial disease in autism spectrum disorder patients: a cohort analysis. PLoS One. 2008 ; 3 (11). e3815.
-
(2008)
PLoS One
, vol.3
, Issue.11
, pp. 3815
-
-
Weissman, J.R.1
Kelley, R.I.2
Bauman, M.L.3
-
7
-
-
11244291105
-
Neuropathology of white matter disease in Leber's hereditary optic neuropathy
-
DOI 10.1093/brain/awh310
-
Kovács GG, Höftberger R., Majtényi K., et al. Neuropathology of white matter disease in Leber's hereditary optic neuropathy. Brain. 2005 ; 128: 35-41. (Pubitemid 40070518)
-
(2005)
Brain
, vol.128
, Issue.1
, pp. 35-41
-
-
Kovacs, G.G.1
Hoftberger, R.2
Majtenyi, K.3
Horvath, R.4
Barsi, P.5
Komoly, S.6
Lassmann, H.7
Budka, H.8
Jakab, G.9
-
8
-
-
0036113951
-
Familial left ventricular hypertrabeculation in two blind brothers
-
DOI 10.1016/S1054-8807(01)00087-4, PII S1054880701000874
-
Finsterer J., Stöllberger C., Michaela J. Familial left ventricular hypertrabeculation in two blind brothers. Cardiovasc Pathol. 2002 ; 11 (3). 146-148. (Pubitemid 34553412)
-
(2002)
Cardiovascular Pathology
, vol.11
, Issue.3
, pp. 146-148
-
-
Finsterer, J.1
Stollberger, C.2
Michaela, J.3
-
9
-
-
33847234224
-
Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA 11778G>A point mutation: A case report
-
Grazina MM, Diogo LM, Garcia PC, et al. Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA 11778G>A point mutation: a case report. Eur J Paediatr Neurol. 2007 ; 11 (2). 115-118.
-
(2007)
Eur J Paediatr Neurol
, vol.11
, Issue.2
, pp. 115-118
-
-
Grazina, M.M.1
Diogo, L.M.2
Garcia, P.C.3
-
10
-
-
0037069229
-
Diagnostic criteria for respiratory chain disorders in adults and children
-
Bernier FP, Boneh A., Dennett X., et al. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology. 2002 ; 59: 1406-1411. (Pubitemid 35285995)
-
(2002)
Neurology
, vol.59
, Issue.9
, pp. 1406-1411
-
-
Bernier, F.P.1
Boneh, A.2
Dennett, X.3
Chow, C.W.4
Cleary, M.A.5
Thorburn, D.R.6
-
11
-
-
0026531040
-
Mitochondrial DNA complex i and III mutations associated with Leber's hereditary optic neuropathy
-
Brown MD, Voljavec AS, Lott MT, et al. Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. Genetics. 1992 ; 130: 163-173.
-
(1992)
Genetics
, vol.130
, pp. 163-173
-
-
Brown, M.D.1
Voljavec, A.S.2
Lott, M.T.3
-
12
-
-
0025003456
-
A common mitochondrial DNA mutation in the t-RNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers
-
Yoneda M., Tanno Y., Horai S., et al. A common mitochondrial DNA mutation in the t-RNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers. Biochem Int. 1990 ; 21: 789-796. (Pubitemid 20281253)
-
(1990)
Biochemistry International
, vol.21
, Issue.5
, pp. 789-796
-
-
Yoneda, M.1
Tanno, Y.2
Horai, S.3
Ozawa, T.4
Miyatake, T.5
Tsuji, S.6
|