-
1
-
-
0011975745
-
Myoclonic seizures
-
Wyllie E, ed. Philadelphia: Lippincott Williams & Wilkins
-
Serratosa JM. Myoclonic seizures. In: Wyllie E, ed. The treatment of epilepsy. 3rd ed. Philadelphia: Lippincott Williams & Wilkins, 2001:395-404.
-
(2001)
The Treatment of Epilepsy. 3rd Ed.
, pp. 395-404
-
-
Serratosa, J.M.1
-
3
-
-
0001875520
-
The nosology and pathophysiology of myoclonus
-
Marsden CD, Fahn S, eds. London: Butterworth Scientific
-
Marsden CD, Hallett M, Fahn S. The nosology and pathophysiology of myoclonus. In: Marsden CD, Fahn S, eds. Movement disorders. London: Butterworth Scientific, 1985:198-248.
-
(1985)
Movement Disorders
, pp. 198-248
-
-
Marsden, C.D.1
Hallett, M.2
Fahn, S.3
-
4
-
-
0021815110
-
Myoclonus: Relation to epilepsy
-
Hallett M. Myoclonus: relation to epilepsy. Epilepsia 1985;26(suppl 1):S67-77.
-
(1985)
Epilepsia
, vol.26
, Issue.SUPPL. 1
-
-
Hallett, M.1
-
6
-
-
0030777887
-
Myoclonus and epilepsy in childhood
-
Commission on Pediatric Epilepsy of the International League Against Epilepsy. Myoclonus and epilepsy in childhood. Epilepsia 1997;38:1251-4.
-
(1997)
Epilepsia
, vol.38
, pp. 1251-1254
-
-
-
7
-
-
0003128091
-
The progressive myoclonus epilepsies
-
Wyllie E, ed. Philadelphia: Lippincott Williams & Wilkins
-
Serratosa JM. The progressive myoclonus epilepsies. In: Wyllie E, ed. The treatment of epilepsy. 3rd ed. Philadelphia: Lippincott Williams & Wilkins, 2001:509-24.
-
(2001)
The Treatment of Epilepsy. 3rd Ed.
, pp. 509-524
-
-
Serratosa, J.M.1
-
9
-
-
0002450588
-
Progressive myoclonus epilepsies in childhood and adolescence
-
Roger J, Bureau M, Dravet C, et al, eds. London: John Libbey
-
Roger J, Genton C, Bureau M, et al. Progressive myoclonus epilepsies in childhood and adolescence. In: Roger J, Bureau M, Dravet C, et al, eds. Epileptic syndromes in infancy, childhood and adolescence. 2nd ed. London: John Libbey, 1992:381-400.
-
(1992)
Epileptic Syndromes in Infancy, Childhood and Adolescence. 2nd Ed.
, pp. 381-400
-
-
Roger, J.1
Genton, C.2
Bureau, M.3
-
10
-
-
0018428007
-
Progressive myoclonus epilepsy: Genetic and nosological aspects with special reference to 107 Finnish patients
-
Norio R, Koskiniemi M. Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients. Clin Genet 1979;15:382-98.
-
(1979)
Clin Genet
, vol.15
, pp. 382-398
-
-
Norio, R.1
Koskiniemi, M.2
-
11
-
-
0022907965
-
Visual evoked potentials, brainstem auditory evoked potentials, and quantitative EEG in Baltic progressive myoclonus epilepsy
-
Mervaala E, Keranen T, Paakkonen A, Partanen JV, Riekkinen P. Visual evoked potentials, brainstem auditory evoked potentials, and quantitative EEG in Baltic progressive myoclonus epilepsy. Epilepsia 1986;27:542-7.
-
(1986)
Epilepsia
, vol.27
, pp. 542-547
-
-
Mervaala, E.1
Keranen, T.2
Paakkonen, A.3
Partanen, J.V.4
Riekkinen, P.5
-
12
-
-
0028027686
-
Sweat gland vacuoles in Unverricht-Lundborg disease: A clue to diagnosis?
-
Cochius J, Carpenter S, Andermann E, et al. Sweat gland vacuoles in Unverricht-Lundborg disease: a clue to diagnosis? Neurology 1994;44:2372-5.
-
(1994)
Neurology
, vol.44
, pp. 2372-2375
-
-
Cochius, J.1
Carpenter, S.2
Andermann, E.3
-
13
-
-
13344269666
-
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
-
Pennacchio LA, Lehesjoki A-E, Stone NE, 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
-
14
-
-
0027108688
-
Identical genetic locus for Baltic and Mediterranean myoclonus
-
Malafosse A, Lehesjoki AE, Genton P, et al. Identical genetic locus for Baltic and Mediterranean myoclonus. Lancet 1992;339:1080-1.
-
(1992)
Lancet
, vol.339
, pp. 1080-1081
-
-
Malafosse, A.1
Lehesjoki, A.E.2
Genton, P.3
-
15
-
-
0020561801
-
"Baltic" myoclonus epilepsy: Hereditary disorder of childhood made worse by phenytoin
-
Eldridge R, Iivanainen M, Stern R, Koerber T, Wilder BJ. "Baltic" myoclonus epilepsy: hereditary disorder of childhood made worse by phenytoin. Lancet 1983;2:838-42.
-
(1983)
Lancet
, vol.2
, pp. 838-842
-
-
Eldridge, R.1
Iivanainen, M.2
Stern, R.3
Koerber, T.4
Wilder, B.J.5
-
17
-
-
0019813663
-
Sweat gland duct cells in Lafora disease: Diagnosis by skin biopsy
-
Carpenter S, Karpati G. Sweat gland duct cells in Lafora disease: diagnosis by skin biopsy. Neurology 1981;31:1564-8.
-
(1981)
Neurology
, vol.31
, pp. 1564-1568
-
-
Carpenter, S.1
Karpati, G.2
-
18
-
-
0000827239
-
The neuronal ceroidlipofuscinoses (Batten-Vogt syndrome)
-
Vinken PJ, Bruyn GW, eds. Amsterdam: North Holland
-
Zeman W, Donahue S, Dyken P, et al. The neuronal ceroidlipofuscinoses (Batten-Vogt syndrome). In: Vinken PJ, Bruyn GW, eds. Handbook of clinical neurology. Vol 10. Amsterdam: North Holland, 1970:588-679.
-
(1970)
Handbook of Clinical Neurology
, vol.10
, pp. 588-679
-
-
Zeman, W.1
Donahue, S.2
Dyken, P.3
-
19
-
-
0024314921
-
The neuronal ceroid lipofuscinoses
-
Dyken PR. The neuronal ceroid lipofuscinoses. J Child Neurol 1989;4:165-74.
-
(1989)
J Child Neurol
, vol.4
, pp. 165-174
-
-
Dyken, P.R.1
-
20
-
-
0024420201
-
Myoclonus epilepsy and ragged-red fibres (MERRF). I. A clinical, pathological, biochemical, magnetic resonance spectographic and positron emission tomographic study
-
Berkovic SF, Carpenter S, Evans A, et al. Myoclonus epilepsy and ragged-red fibres (MERRF). I. A clinical, pathological, biochemical, magnetic resonance spectographic and positron emission tomographic study. Brain 1989;112:1231-60.
-
(1989)
Brain
, vol.112
, pp. 1231-1260
-
-
Berkovic, S.F.1
Carpenter, S.2
Evans, A.3
-
21
-
-
0029154568
-
Enzyme infusion therapy of the norrbottnian (type 3) Gaucher disease
-
Erikson A, Astrom M, Mansson JE. Enzyme infusion therapy of the norrbottnian (type 3) Gaucher disease. Neuropediatrics 1995;26:203-7.
-
(1995)
Neuropediatrics
, vol.26
, pp. 203-207
-
-
Erikson, A.1
Astrom, M.2
Mansson, J.E.3
-
22
-
-
0020064620
-
Familial myoclonus epilepsy and choreoathetosis: Hereditary dentatorubral-pallidoluysian atrophy
-
Naito H, Oyanagi S. Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy. Neurology 1982;32:798-807.
-
(1982)
Neurology
, vol.32
, pp. 798-807
-
-
Naito, H.1
Oyanagi, S.2
-
23
-
-
0029664992
-
Huntington and DRPLA proteins selectively interact with the enzyme GAPDH
-
Burke JR, Enghild JJ, Martin ME, et al. Huntington and DRPLA proteins selectively interact with the enzyme GAPDH. Nat Med 1996;2:347-50.
-
(1996)
Nat Med
, vol.2
, pp. 347-350
-
-
Burke, J.R.1
Enghild, J.J.2
Martin, M.E.3
-
25
-
-
0022615966
-
Action myoclonusrenal failure syndrome
-
Fahn S, Marsden C, Van Woert M, eds. New York: Raven Press
-
Andermann F, Andermann E, Carpenter S, et al. Action myoclonusrenal failure syndrome. In: Fahn S, Marsden C, Van Woert M, eds. Myoclonus. Advances in Neurology. Vol 43. New York: Raven Press, 1986:87-103.
-
(1986)
Myoclonus. Advances in Neurology
, vol.43
, pp. 87-103
-
-
Andermann, F.1
Andermann, E.2
Carpenter, S.3
-
26
-
-
0242316625
-
Juvenile myoclonic epilepsy
-
Wyllie E, ed. Philadelphia: Lippincott Williams & Wilkins
-
Serratosa JM. Juvenile myoclonic epilepsy. In: Wyllie E, ed. The treatment of epilepsy. 3rd ed. Philadelphia: Lippincott Williams & Wilkins, 2001:491-508.
-
(2001)
The Treatment of Epilepsy. 3rd Ed.
, pp. 491-508
-
-
Serratosa, J.M.1
-
27
-
-
8544254723
-
Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q
-
Elmslie FV, Rees M, Williamson KP, et al. Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q. Hum Mol Genet 1997;6:1329-34.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1329-1334
-
-
Elmslie, F.V.1
Rees, M.2
Williamson, K.P.3
-
28
-
-
0024448276
-
Juvenile myoclonic epilepsy: Long-term response to therapy
-
Penry JK, Dean JC, Riela AR. Juvenile myoclonic epilepsy: long-term response to therapy. Epilepsia 1989;30(suppl 4):S19-23.
-
(1989)
Epilepsia
, vol.30
, Issue.SUPPL. 4
-
-
Penry, J.K.1
Dean, J.C.2
Riela, A.R.3
-
29
-
-
0006255545
-
Treatment of epilepsies with myoclonias
-
Shorvon S, Dreifuss F, Fish D, Thomas D, Reynolds E, eds. Oxford: Blackwell Science
-
Genton P, Dravet C. Treatment of epilepsies with myoclonias. In: Shorvon S, Dreifuss F, Fish D, Thomas D, Reynolds E, eds. The treatment of epilepsy. Oxford: Blackwell Science, 1996:247-57.
-
(1996)
The Treatment of Epilepsy
, pp. 247-257
-
-
Genton, P.1
Dravet, C.2
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