-
3
-
-
0025098965
-
The Ramsay Hunt syndrome revisited: Mediterranean myoclonus versus mitochondrial encephalomyopathy with ragged-red fibers and Baltic myoclonus
-
Genton P, Michelucci R, Tassinari CA, Roger J. The Ramsay Hunt syndrome revisited: Mediterranean myoclonus versus mitochondrial encephalomyopathy with ragged-red fibers and Baltic myoclonus. Acta Neurol Scand 1990; 81: 8-15.
-
(1990)
Acta Neurol Scand
, vol.81
, pp. 8-15
-
-
Genton, P.1
Michelucci, R.2
Tassinari, C.A.3
Roger, J.4
-
4
-
-
1242290365
-
Progressive myoclonus epilepsies
-
Roger J, Bureau M, Dravet C, Genton P, Tassinari C, Wolf P, editors. Eastleigh (UK): John Libbey
-
Genton P, Malafosse A, Moulard B, Rogel-Ortiz F, Dravet C, Bureau M, et al. Progressive myoclonus epilepsies. In: Roger J, Bureau M, Dravet C, Genton P, Tassinari C, Wolf P, editors. Epileptic syndromes in infancy, childhood and adolescence. Eastleigh (UK): John Libbey; 2002. p. 407-30.
-
(2002)
Epileptic Syndromes in Infancy, Childhood and Adolescence
, pp. 407-430
-
-
Genton, P.1
Malafosse, A.2
Moulard, B.3
Rogel-Ortiz, F.4
Dravet, C.5
Bureau, M.6
-
5
-
-
0004452545
-
Progressive familial myoclonic epilepsy in three families: Its clinical features and pathological basis
-
Harriman DGH, Millar JHD, Stevenson AC. Progressive familial myoclonic epilepsy in three families: its clinical features and pathological basis. Brain 1955; 78: 325-49.
-
(1955)
Brain
, vol.78
, pp. 325-349
-
-
Harriman, D.G.H.1
Millar, J.H.D.2
Stevenson, A.C.3
-
6
-
-
15044346312
-
Anatomico-clinical observations on myoclonus in epileptics and on related symptom complexes
-
Hodskins MB, Yakovlev PI. Anatomico-clinical observations on myoclonus in epileptics and on related symptom complexes. Am J Psychiatry 1930; 86: 827-48.
-
(1930)
Am J Psychiatry
, vol.86
, pp. 827-848
-
-
Hodskins, M.B.1
Yakovlev, P.I.2
-
7
-
-
0033848442
-
Trends in the frequencies of consanguineous marriages in the Israeli Arab community
-
Jaber L, Halpern GJ, Shohat T. Trends in the frequencies of consanguineous marriages in the Israeli Arab community. Clin Genet 2000; 58: 106-10.
-
(2000)
Clin Genet
, vol.58
, pp. 106-110
-
-
Jaber, L.1
Halpern, G.J.2
Shohat, T.3
-
8
-
-
0016138252
-
Progressive myoclonus epilepsy. A clinical and histopathological study
-
Koskiniemi M, Donner M, Majuri H, Haltia M, Norio R. Progressive myoclonus epilepsy. A clinical and histopathological study. Acta Neurol Scand 1974; 50: 307-32.
-
(1974)
Acta Neurol Scand
, vol.50
, pp. 307-332
-
-
Koskiniemi, M.1
Donner, M.2
Majuri, H.3
Haltia, M.4
Norio, R.5
-
9
-
-
0031034894
-
Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1
-
Lafreniere RG, Rochefort DL, Chretien N, Rommens JM, Cochius JI, Kalviainen R, et al. Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. Nat Genet 1997; 15: 298-302.
-
(1997)
Nat Genet
, vol.15
, pp. 298-302
-
-
Lafreniere, R.G.1
Rochefort, D.L.2
Chretien, N.3
Rommens, J.M.4
Cochius, J.I.5
Kalviainen, R.6
-
10
-
-
0030964106
-
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy
-
Lalioti MD, Scott HS, Buresi C, Rossier C, Bottani A, Morris MA, et al. Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature 1997; 386: 847-51.
-
(1997)
Nature
, vol.386
, pp. 847-851
-
-
Lalioti, M.D.1
Scott, H.S.2
Buresi, C.3
Rossier, C.4
Bottani, A.5
Morris, M.A.6
-
11
-
-
0021344005
-
Easy calculations of lod scores and genetic risks on small computers
-
Lathrop GM, Lalouel JM. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 1984; 36: 460-5.
-
(1984)
Am J Hum Genet
, vol.36
, pp. 460-465
-
-
Lathrop, G.M.1
Lalouel, J.M.2
-
12
-
-
0041813308
-
Molecular background of progressive myoclonus epilepsy
-
Lehesjoki AE. Molecular background of progressive myoclonus epilepsy. EMBO J 2003; 22: 3473-8.
-
(2003)
EMBO J
, vol.22
, pp. 3473-3478
-
-
Lehesjoki, A.E.1
-
14
-
-
0035949740
-
Unverricht-Lundborg disease in a five-generation Arab family: Instability of dodecamer repeats
-
Mazarib A, Xiong L, Neufeld MY, Birnbaum M, Korczyn AD, Pandolfo M, et al. Unverricht-Lundborg disease in a five-generation Arab family: instability of dodecamer repeats. Neurology 2001; 57: 1050-4.
-
(2001)
Neurology
, vol.57
, pp. 1050-1054
-
-
Mazarib, A.1
Xiong, L.2
Neufeld, M.Y.3
Birnbaum, M.4
Korczyn, A.D.5
Pandolfo, M.6
-
15
-
-
0033765879
-
Pitfalls in homozygosity mapping
-
Miano MG, Jacobson SG, Carothers A, Hanson I, Teague P, Lovell J, et al. Pitfalls in homozygosity mapping. Am J Hum Genet 2000; 67: 1348-51.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1348-1351
-
-
Miano, M.G.1
Jacobson, S.G.2
Carothers, A.3
Hanson, I.4
Teague, P.5
Lovell, J.6
-
16
-
-
13344269666
-
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
-
Pennacchio LA, Lehesjoki AE, Stone NE, Willour VL, Virtaneva K, Miao J, et al. Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science 1996; 271: 1731-4.
-
(1996)
Science
, vol.271
, pp. 1731-1734
-
-
Pennacchio, L.A.1
Lehesjoki, A.E.2
Stone, N.E.3
Willour, V.L.4
Virtaneva, K.5
Miao, J.6
-
17
-
-
0031764610
-
Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice
-
Pennacchio LA, Bouley DM, Higgins KM, Scott MP, Noebels JL, Myers RM. Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice. Nat Genet 1998; 20: 251-8.
-
(1998)
Nat Genet
, vol.20
, pp. 251-258
-
-
Pennacchio, L.A.1
Bouley, D.M.2
Higgins, K.M.3
Scott, M.P.4
Noebels, J.L.5
Myers, R.M.6
-
18
-
-
0029045967
-
Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2
-
Phillips HA, Scheffer IE, Berkovic SF, Hollway GE, Sutherland GR, Mulley JC. Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2. Nat Genet 1995; 10: 117-8.
-
(1995)
Nat Genet
, vol.10
, pp. 117-118
-
-
Phillips, H.A.1
Scheffer, I.E.2
Berkovic, S.F.3
Hollway, G.E.4
Sutherland, G.R.5
Mulley, J.C.6
-
21
-
-
17744419667
-
Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1
-
Virtaneva K, D'Amato E, Miao J, Koskiniemi M, Norio R, Avanzini G, et al. Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1. Nat Genet 1997; 15: 393-6.
-
(1997)
Nat Genet
, vol.15
, pp. 393-396
-
-
Virtaneva, K.1
D'Amato, E.2
Miao, J.3
Koskiniemi, M.4
Norio, R.5
Avanzini, G.6
|