-
1
-
-
33847300237
-
Paramyoclonus multiplex. Neuropathologische Beobachtungen
-
Friedreich N. Paramyoclonus multiplex. Neuropathologische Beobachtungen. Arch Path Anat (Virchow Arch) 1881; 86: 421-434.
-
(1881)
Arch Path Anat (Virchow Arch)
, vol.86
, pp. 421-434
-
-
Friedreich, N.1
-
3
-
-
0000078493
-
Investigations on a patient subject to myoclonic seizures after sensory stimulation
-
Dawson GD. Investigations on a patient subject to myoclonic seizures after sensory stimulation. J Neurol Neurosurg Psychiatry 1947; 10: 141-162.
-
(1947)
J Neurol Neurosurg Psychiatry
, vol.10
, pp. 141-162
-
-
Dawson, G.D.1
-
6
-
-
0017703587
-
Clinical, biochemical and physiological features distinguishing myoclonus responsive to 5-hydroxytryptophan, tryptophan with a monoamine oxidase inhibitor, and clonazepam
-
Chadwick D, Hallett M, Harris R, et al. Clinical, biochemical and physiological features distinguishing myoclonus responsive to 5-hydroxytryptophan, tryptophan with a monoamine oxidase inhibitor, and clonazepam. Brain 1977; 100: 455-487.
-
(1977)
Brain
, vol.100
, pp. 455-487
-
-
Chadwick, D.1
Hallett, M.2
Harris, R.3
-
7
-
-
0017886902
-
Electroencephalographic studies of myoclonus: myoclonus-related cortical spikes and high amplitude somatosensory evoked potentials
-
Shibasaki H, Yamashita Y, Kuroiwa Y. Electroencephalographic studies of myoclonus: myoclonus-related cortical spikes and high amplitude somatosensory evoked potentials. Brain 1978; 101: 447-460.
-
(1978)
Brain
, vol.101
, pp. 447-460
-
-
Shibasaki, H.1
Yamashita, Y.2
Kuroiwa, Y.3
-
9
-
-
0000320641
-
The syndrome of intention or action myoclonus as a sequel to hypoxic encephalopathy
-
Lance JW, Adams RD. The syndrome of intention or action myoclonus as a sequel to hypoxic encephalopathy. Brain 1963; 86: 111-136.
-
(1963)
Brain
, vol.86
, pp. 111-136
-
-
Lance, J.W.1
Adams, R.D.2
-
10
-
-
0025900901
-
The hyperekplexias and their relationship to the normal startle reflex
-
Brown P, Rothwell JC, Thompson PD, Britton TC, Day BL, Marsden CD. The hyperekplexias and their relationship to the normal startle reflex. Brain 1991; 114: 1903-1928.
-
(1991)
Brain
, vol.114
, pp. 1903-1928
-
-
Brown, P.1
Rothwell, J.C.2
Thompson, P.D.3
Britton, T.C.4
Day, B.L.5
Marsden, C.D.6
-
11
-
-
0345363426
-
A clinical study and neuropathological findings of a familial disease with myoclonus and epilepsy-familial essential myoclonus and epilepsy
-
Inazuki G, Naito H, Ohama E, et al. A clinical study and neuropathological findings of a familial disease with myoclonus and epilepsy-familial essential myoclonus and epilepsy. Psychiatr Neurol Jpn 1990; 92: 1-21.
-
(1990)
Psychiatr Neurol Jpn
, vol.92
, pp. 1-21
-
-
Inazuki, G.1
Naito, H.2
Ohama, E.3
-
12
-
-
0002567716
-
Benign adult familial myoclonic epilepsy (BAFME)
-
Yasuda T. Benign adult familial myoclonic epilepsy (BAFME). Kawasaki Med J 1991; 17: 1-13.
-
(1991)
Kawasaki Med J
, vol.17
, pp. 1-13
-
-
Yasuda, T.1
-
13
-
-
0025043869
-
Cortical tremor: a variant of cortical reflex myoclonus
-
Ikeda A, Kakigi R, Funai N, et al. Cortical tremor: a variant of cortical reflex myoclonus. Neurology 1990; 40: 1561-1565.
-
(1990)
Neurology
, vol.40
, pp. 1561-1565
-
-
Ikeda, A.1
Kakigi, R.2
Funai, N.3
-
14
-
-
0030914780
-
Familial cortical myoclonic tremor as a unique form of cortical reflex myoclonus
-
Terada K, Ikeda A, Mima T, et al. Familial cortical myoclonic tremor as a unique form of cortical reflex myoclonus. Mov Disord 1997; 12: 370-377.
-
(1997)
Mov Disord
, vol.12
, pp. 370-377
-
-
Terada, K.1
Ikeda, A.2
Mima, T.3
-
15
-
-
0037461301
-
Benign adult familial myoclonic epilepsy. Genetic heterogeneity and allelism with ADCME
-
de Falco FA, Striano P, de Falco A, et al. Benign adult familial myoclonic epilepsy. Genetic heterogeneity and allelism with ADCME. Neurology 2003; 60: 1381-1385.
-
(2003)
Neurology
, vol.60
, pp. 1381-1385
-
-
de Falco, F.A.1
Striano, P.2
de Falco, A.3
-
16
-
-
0842268282
-
A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2
-
Striano P, Chifari R, Striano S, et al. A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2. Epilepsia 2004; 45: 190-192.
-
(2004)
Epilepsia
, vol.45
, pp. 190-192
-
-
Striano, P.1
Chifari, R.2
Striano, S.3
-
17
-
-
65549158033
-
Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy
-
Suppa A, Berardelli A, Brancati F, et al. Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy. Epilepsia 2009; 50: 1284-1288.
-
(2009)
Epilepsia
, vol.50
, pp. 1284-1288
-
-
Suppa, A.1
Berardelli, A.2
Brancati, F.3
-
18
-
-
1542360720
-
Familial cortical tremor with epilepsy and cerebellar pathological findings
-
van Rootselaar AF, Aronica E, Steur ENHJ, et al. Familial cortical tremor with epilepsy and cerebellar pathological findings. Mov Disord 2004; 19: 213-217.
-
(2004)
Mov Disord
, vol.19
, pp. 213-217
-
-
van Rootselaar, A.F.1
Aronica, E.2
Steur, E.N.H.J.3
-
19
-
-
77953736615
-
Familial cortical myoclonic tremor with epilepsy: The third locus (FCMTE3) maps to 5p
-
Depienne C, Magnin E, Bouteiller D, et al. Familial cortical myoclonic tremor with epilepsy: The third locus (FCMTE3) maps to 5p. Neurology 2010; 74: 2000-2003.
-
(2010)
Neurology
, vol.74
, pp. 2000-2003
-
-
Depienne, C.1
Magnin, E.2
Bouteiller, D.3
-
20
-
-
4944242282
-
Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder
-
Bhadwar A, Berkovic S, Dowling JP, et al. Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder. Brain 2004; 127: 2173-2182.
-
(2004)
Brain
, vol.127
, pp. 2173-2182
-
-
Bhadwar, A.1
Berkovic, S.2
Dowling, J.P.3
-
21
-
-
0029882099
-
Essential myoclonus and myoclonic dystonia
-
Quinn NP. Essential myoclonus and myoclonic dystonia. Mov Disord 1996; 11: 119-124.
-
(1996)
Mov Disord
, vol.11
, pp. 119-124
-
-
Quinn, N.P.1
-
22
-
-
17944378309
-
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome
-
Zimprich A, Grabowski M, Asmus F, et al. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet 2001; 29: 66-69.
-
(2001)
Nat Genet
, vol.29
, pp. 66-69
-
-
Zimprich, A.1
Grabowski, M.2
Asmus, F.3
-
23
-
-
3442887465
-
Genetic heterogeneity in ten families with myoclonus-dystonia
-
Schuele B, Kock N, Svetel M, et al. Genetic heterogeneity in ten families with myoclonus-dystonia. J Neurol Neurosurg Psychiatry 2004; 75: 1181-1185.
-
(2004)
J Neurol Neurosurg Psychiatry
, vol.75
, pp. 1181-1185
-
-
Schuele, B.1
Kock, N.2
Svetel, M.3
-
24
-
-
41349090135
-
Myoclonus-dystonia. Clinical and electrophysiologic pattern related to SGCE mutations
-
Roze E, Apartis E, Clot F, et al. Myoclonus-dystonia. Clinical and electrophysiologic pattern related to SGCE mutations. Neurology 2008; 70: 1010-1016.
-
(2008)
Neurology
, vol.70
, pp. 1010-1016
-
-
Roze, E.1
Apartis, E.2
Clot, F.3
-
25
-
-
39549102002
-
Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families
-
Nardocci N, Zorzi G, Barzaghi C, et al. Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families. Mov Disord 2008; 23: 28-34.
-
(2008)
Mov Disord
, vol.23
, pp. 28-34
-
-
Nardocci, N.1
Zorzi, G.2
Barzaghi, C.3
-
26
-
-
67651183916
-
Myoclonus-dystonia: an update
-
Kinugawa K, Vidhailet M, Clot F, Apartis E, Grabli D, Roze E. Myoclonus-dystonia: an update. Mov Disord 2009; 24: 479-489.
-
(2009)
Mov Disord
, vol.24
, pp. 479-489
-
-
Kinugawa, K.1
Vidhailet, M.2
Clot, F.3
Apartis, E.4
Grabli, D.5
Roze, E.6
-
27
-
-
67651146609
-
"Jerky" dystonia in children: spectrum of phenotypes and genetic testing
-
Asmus F, Langseth A, Doherty E, et al. "Jerky" dystonia in children: spectrum of phenotypes and genetic testing. Mov Disord 2009; 24: 702-779.
-
(2009)
Mov Disord
, vol.24
, pp. 702-779
-
-
Asmus, F.1
Langseth, A.2
Doherty, E.3
-
28
-
-
12144268711
-
Inherited myoclonus-dystonia and epilepsy: Further evidence of an association?
-
O'Riordan S, Ozelius LJ, De Carvalho Aguiar P, et al. Inherited myoclonus-dystonia and epilepsy: Further evidence of an association? Mov Disord 2004; 19: 1456-1459.
-
(2004)
Mov Disord
, vol.19
, pp. 1456-1459
-
-
O'Riordan, S.1
Ozelius, L.J.2
De Carvalho Aguiar, P.3
-
29
-
-
57049180145
-
A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome
-
Marelli C, Canafoglia L, Zibordi F, et al. A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome. Mov Disord 2008; 23: 2041-2048.
-
(2008)
Mov Disord
, vol.23
, pp. 2041-2048
-
-
Marelli, C.1
Canafoglia, L.2
Zibordi, F.3
-
30
-
-
57049163559
-
Electrophysiological features of myoclonus-dystonia
-
Li J-Y, Cunic DI, Paradiso G, et al. Electrophysiological features of myoclonus-dystonia. Mov Disord 2008; 23: 2055-2061.
-
(2008)
Mov Disord
, vol.23
, pp. 2055-2061
-
-
Li, J.-Y.1
Cunic, D.I.2
Paradiso, G.3
-
31
-
-
62049084866
-
Normal cortical excitability in Myoclonus-Dystonia-a TMS study
-
van der Salm SM, van Rootselaar AF, Foncke EM, et al. Normal cortical excitability in Myoclonus-Dystonia-a TMS study. Exp Neurol 2009; 216: 300-305.
-
(2009)
Exp Neurol
, vol.216
, pp. 300-305
-
-
van der Salm, S.M.1
van Rootselaar, A.F.2
Foncke, E.M.3
-
32
-
-
0018409675
-
Rhythmic palatal myoclonus and the dentato-olivary pathway
-
Lapresle J. Rhythmic palatal myoclonus and the dentato-olivary pathway. J Neurol 1979; 220: 223-230.
-
(1979)
J Neurol
, vol.220
, pp. 223-230
-
-
Lapresle, J.1
-
33
-
-
0027964407
-
Symptomatic and essential palatal tremor. I. Clinical, physiological and MRI analysis
-
Deuschl G, Toro C, Valls-Sole J, et al. Symptomatic and essential palatal tremor. I. Clinical, physiological and MRI analysis. Brain 1994; 117: 775-788.
-
(1994)
Brain
, vol.117
, pp. 775-788
-
-
Deuschl, G.1
Toro, C.2
Valls-Sole, J.3
-
34
-
-
0027993174
-
Symptomatic and essential palatal tremor. 2. Differences of palatal movements
-
Deuschl G, Toro C, Hallett M. Symptomatic and essential palatal tremor. 2. Differences of palatal movements. Mov Disord 1994; 9: 676-678.
-
(1994)
Mov Disord
, vol.9
, pp. 676-678
-
-
Deuschl, G.1
Toro, C.2
Hallett, M.3
-
35
-
-
3042576020
-
Psychogenic palatal tremor
-
Williams DR. Psychogenic palatal tremor. Mov Disord 2004; 19: 333-335.
-
(2004)
Mov Disord
, vol.19
, pp. 333-335
-
-
Williams, D.R.1
-
36
-
-
33644957466
-
Psychogenic palatal tremor
-
Pirio Richardson S, Mari Z, Matsuhashi M, Hallett M. Psychogenic palatal tremor. Mov Disord 2006, 21, 274-276.
-
(2006)
Mov Disord
, vol.21
, pp. 274-276
-
-
Pirio Richardson, S.1
Mari, Z.2
Matsuhashi, M.3
Hallett, M.4
-
37
-
-
0025981205
-
Axial myoclonus of propriospinal origin
-
Brown P, Thompson PD, Rothwell JC, et al. Axial myoclonus of propriospinal origin. Brain 1991; 114: 197-214.
-
(1991)
Brain
, vol.114
, pp. 197-214
-
-
Brown, P.1
Thompson, P.D.2
Rothwell, J.C.3
-
38
-
-
0028142847
-
Propriospinal myoclonus: evidence for spinal "pattern" generators in humans
-
Brown P, Rothwell JC, Thompson PD, et al. Propriospinal myoclonus: evidence for spinal "pattern" generators in humans. Mov Disord 1994; 5: 571-576.
-
(1994)
Mov Disord
, vol.5
, pp. 571-576
-
-
Brown, P.1
Rothwell, J.C.2
Thompson, P.D.3
-
39
-
-
65349140039
-
Propriospinal myoclonus revisited: Clinical, neurophysiologic, and neuroradiologic findings
-
Roze E, Bounolleau P, Ducreux D, et al. Propriospinal myoclonus revisited: Clinical, neurophysiologic, and neuroradiologic findings. Neurology 2009; 72: 1301-1309.
-
(2009)
Neurology
, vol.72
, pp. 1301-1309
-
-
Roze, E.1
Bounolleau, P.2
Ducreux, D.3
-
40
-
-
0035412909
-
Electrophysiological aids to the diagnosis of psychogenic jerks, spasms, and tremor
-
Brown P, Thompson PD. Electrophysiological aids to the diagnosis of psychogenic jerks, spasms, and tremor. Mov Disord 2001; 16: 595-599.
-
(2001)
Mov Disord
, vol.16
, pp. 595-599
-
-
Brown, P.1
Thompson, P.D.2
-
41
-
-
52649172275
-
Psychogenic propriospinal myoclonus
-
Williams DR, Cowey M, Day B. Psychogenic propriospinal myoclonus. Mov Disord 2008; 23: 1312-1313.
-
(2008)
Mov Disord
, vol.23
, pp. 1312-1313
-
-
Williams, D.R.1
Cowey, M.2
Day, B.3
-
42
-
-
73949147266
-
Idiopathic spinal myoclonus: a clinical and neurophysiological assessment of a movement disorder of uncertain origin
-
Esposito M, Edwards MJ, Bhatia KP, et al. Idiopathic spinal myoclonus: a clinical and neurophysiological assessment of a movement disorder of uncertain origin. Mov Disord 2009; 2344-2349.
-
(2009)
Mov Disord
, pp. 2344-2349
-
-
Esposito, M.1
Edwards, M.J.2
Bhatia, K.P.3
-
43
-
-
33748364369
-
Electromyography patterns of propriospinal myoclonus can be mimicked voluntarily
-
Kang S, Sohn Y. Electromyography patterns of propriospinal myoclonus can be mimicked voluntarily. Mov Disord 2006; 21: 1241-1244.
-
(2006)
Mov Disord
, vol.21
, pp. 1241-1244
-
-
Kang, S.1
Sohn, Y.2
-
44
-
-
0021963451
-
Pathogenesis of giant somatosensory evoked potentials in progressive myoclonic epilepsy
-
Shibasaki H, Yamashita Y, Neshige R, et al. Pathogenesis of giant somatosensory evoked potentials in progressive myoclonic epilepsy. Brain 1985; 108: 225-240.
-
(1985)
Brain
, vol.108
, pp. 225-240
-
-
Shibasaki, H.1
Yamashita, Y.2
Neshige, R.3
-
45
-
-
0023619984
-
Generator mechanisms of giant somatosensory evoked potentials in cortical reflex myoclonus
-
Kakigi R, Shibasaki H. Generator mechanisms of giant somatosensory evoked potentials in cortical reflex myoclonus. Brain 1987; 110: 1359-1373.
-
(1987)
Brain
, vol.110
, pp. 1359-1373
-
-
Kakigi, R.1
Shibasaki, H.2
-
46
-
-
0025852579
-
Scalp topography of giant SEP and premyoclonus spike in cortical reflex myoclonus
-
Shibasaki H, Kakigi R, Ikeda A. Scalp topography of giant SEP and premyoclonus spike in cortical reflex myoclonus. Electroenceph Clin Neurophysiol 1991; 81: 31-37.
-
(1991)
Electroenceph Clin Neurophysiol
, vol.81
, pp. 31-37
-
-
Shibasaki, H.1
Kakigi, R.2
Ikeda, A.3
-
47
-
-
0028999897
-
Peri-rolandic and fronto-parietal components of scalp-recorded giant SEPs in cortical myoclonus
-
Ikeda A, Shibasaki H, Nagamine T, et al. Peri-rolandic and fronto-parietal components of scalp-recorded giant SEPs in cortical myoclonus. Electroenceph Clin Neurophysiol 1995; 96: 300-309.
-
(1995)
Electroenceph Clin Neurophysiol
, vol.96
, pp. 300-309
-
-
Ikeda, A.1
Shibasaki, H.2
Nagamine, T.3
-
48
-
-
13244279382
-
AAEE monograph #30: electrophysiological studies of myoclonus
-
Shibasaki H, Hallett M. AAEE monograph #30: electrophysiological studies of myoclonus. Muscle Nerve 2005; 31: 157-174.
-
(2005)
Muscle Nerve
, vol.31
, pp. 157-174
-
-
Shibasaki, H.1
Hallett, M.2
-
49
-
-
33745353135
-
Generators and temporal succesion of giant somatosensory evoked potentials in cortical reflex myoclonus: epicortical recording from sensorimotor cortex
-
Hitomi T, Ikeda A, Matsumoto R, et al. Generators and temporal succesion of giant somatosensory evoked potentials in cortical reflex myoclonus: epicortical recording from sensorimotor cortex. Clin Neurophysiol 2006; 117: 1481-1486.
-
(2006)
Clin Neurophysiol
, vol.117
, pp. 1481-1486
-
-
Hitomi, T.1
Ikeda, A.2
Matsumoto, R.3
-
50
-
-
0025993230
-
Intrahemispheric and interhemispheric spread of cerebral cortical myoclonic activity and its relevance to epilepsy
-
Brown P, Day BL, Rothwell JC, et al. Intrahemispheric and interhemispheric spread of cerebral cortical myoclonic activity and its relevance to epilepsy. Brain 1991; 114: 2333-2351.
-
(1991)
Brain
, vol.114
, pp. 2333-2351
-
-
Brown, P.1
Day, B.L.2
Rothwell, J.C.3
-
51
-
-
0023179201
-
Photic cortical reflex myoclonus
-
Shibasaki H, Neshige R. Photic cortical reflex myoclonus. Ann Neurol 1987; 22: 252-257.
-
(1987)
Ann Neurol
, vol.22
, pp. 252-257
-
-
Shibasaki, H.1
Neshige, R.2
-
52
-
-
0031977422
-
Pathogenesis of cortical myoclonus studied by magnetoencephalography
-
Mima T, Nagamine T, Ikeda A, et al. Pathogenesis of cortical myoclonus studied by magnetoencephalography. Ann Neurol 1998; 43: 598-607.
-
(1998)
Ann Neurol
, vol.43
, pp. 598-607
-
-
Mima, T.1
Nagamine, T.2
Ikeda, A.3
-
53
-
-
0031921360
-
Cortical myoclonus: sensorimotor hyperexcitability
-
Mima T, Nagamine T, Nishitani, N, et al. Cortical myoclonus: sensorimotor hyperexcitability. Neurology 1998; 50: 933-942.
-
(1998)
Neurology
, vol.50
, pp. 933-942
-
-
Mima, T.1
Nagamine, T.2
Nishitani, N.3
-
54
-
-
0033022677
-
Coherent cortical and muscle discharge in cortical myoclonus
-
Brown P, Farmer SF, Halliday DM, et al. Coherent cortical and muscle discharge in cortical myoclonus. Brain 1999; 122: 461-472.
-
(1999)
Brain
, vol.122
, pp. 461-472
-
-
Brown, P.1
Farmer, S.F.2
Halliday, D.M.3
-
55
-
-
0022565554
-
Asterixis: one type of negative myoclonus
-
Young RR, Shahani BT. Asterixis: one type of negative myoclonus. Adv Neurol 1986; 43: 137-156.
-
(1986)
Adv Neurol
, vol.43
, pp. 137-156
-
-
Young, R.R.1
Shahani, B.T.2
-
56
-
-
0029448877
-
Pathophysiology of negative myoclonus and asterixis
-
Shibasaki H. Pathophysiology of negative myoclonus and asterixis. Adv Neurol 1995; 67: 199-209.
-
(1995)
Adv Neurol
, vol.67
, pp. 199-209
-
-
Shibasaki, H.1
-
57
-
-
0024545846
-
Physiological analysis of asterixis: silent period locked averaging
-
Ugawa Y, Shimpo T, Mannen T. Physiological analysis of asterixis: silent period locked averaging. J Neurol Neurosurg Psychiatry 1989; 52: 89-92.
-
(1989)
J Neurol Neurosurg Psychiatry
, vol.52
, pp. 89-92
-
-
Ugawa, Y.1
Shimpo, T.2
Mannen, T.3
-
58
-
-
0026654410
-
Cortical mechanisms mediating asterixis
-
Artieda J, Muruzabal J, Larumbe R, et al. Cortical mechanisms mediating asterixis. Mov Disord 1992: 7: 209-216.
-
(1992)
Mov Disord
, vol.7
, pp. 209-216
-
-
Artieda, J.1
Muruzabal, J.2
Larumbe, R.3
-
59
-
-
0028338504
-
Cortical reflex negative myoclonus
-
Shibasaki H, Ikeda A, Nagamine T, et al. Cortical reflex negative myoclonus. Brain 1994; 117: 477-486.
-
(1994)
Brain
, vol.117
, pp. 477-486
-
-
Shibasaki, H.1
Ikeda, A.2
Nagamine, T.3
-
60
-
-
0033940255
-
Role of primary sensorimotor cortices in generating inhibitory motor response in humans
-
Ikeda A, Ohara S, Matsumoto R, et al. Role of primary sensorimotor cortices in generating inhibitory motor response in humans. Brain 2000; 123: 1710-1721.
-
(2000)
Brain
, vol.123
, pp. 1710-1721
-
-
Ikeda, A.1
Ohara, S.2
Matsumoto, R.3
-
61
-
-
0026721249
-
Transient myoclonic state with asterixis in elderly patients: a new syndrome?
-
Hashimoto S, Kawamura J, Yamamoto T, et al. Transient myoclonic state with asterixis in elderly patients: a new syndrome? J Neurol. Sci 1992; 109: 132-139.
-
(1992)
J Neurol. Sci
, vol.109
, pp. 132-139
-
-
Hashimoto, S.1
Kawamura, J.2
Yamamoto, T.3
-
62
-
-
41449083238
-
Abnormal cortical excitability with preserved brainstem and spinal reflexes in sialidosis type I
-
Huang YZ, Lai SC, Lu CS, et al. Abnormal cortical excitability with preserved brainstem and spinal reflexes in sialidosis type I. Clin Neurophysiol 2008; 119: 1042-1050.
-
(2008)
Clin Neurophysiol
, vol.119
, pp. 1042-1050
-
-
Huang, Y.Z.1
Lai, S.C.2
Lu, C.S.3
-
63
-
-
42749090467
-
Difference in intracortical inhibition of the motor cortex between cortical myoclonus and focal hand dystonia
-
Hanajima R, Okabe S, Terao Y, et al. Difference in intracortical inhibition of the motor cortex between cortical myoclonus and focal hand dystonia. Clin Neurophysiol 2008; 119: 1400-1407.
-
(2008)
Clin Neurophysiol
, vol.119
, pp. 1400-1407
-
-
Hanajima, R.1
Okabe, S.2
Terao, Y.3
-
64
-
-
0028153437
-
The myoclonus in corticobasal degeneration. Evidence for two forms of cortical reflex myoclonus
-
Thompson PD, Day BL, Rothwell JC, et al. The myoclonus in corticobasal degeneration. Evidence for two forms of cortical reflex myoclonus. Brain 1994; 117: 1197-1207.
-
(1994)
Brain
, vol.117
, pp. 1197-1207
-
-
Thompson, P.D.1
Day, B.L.2
Rothwell, J.C.3
-
65
-
-
0032896578
-
Facilitation of rhythmic events in progressive myoclonus epilepsy: a transcranial magnetic stimulation study
-
Valzania F, Strafella AP, Tropeani A, et al. Facilitation of rhythmic events in progressive myoclonus epilepsy: a transcranial magnetic stimulation study. Clin Neurophysiol 1999; 110: 152-157.
-
(1999)
Clin Neurophysiol
, vol.110
, pp. 152-157
-
-
Valzania, F.1
Strafella, A.P.2
Tropeani, A.3
-
66
-
-
0035084839
-
Interhemispheric interaction between the hand motor areas in patients with cortical myoclonus
-
Hanajima R, Ugawa Y, Okabe S, et al. Interhemispheric interaction between the hand motor areas in patients with cortical myoclonus. Clin Neurophysiol 2001; 112: 623-626.
-
(2001)
Clin Neurophysiol
, vol.112
, pp. 623-626
-
-
Hanajima, R.1
Ugawa, Y.2
Okabe, S.3
-
67
-
-
0007517704
-
Transcallosal and intracortical spread of activity following cortical stimulation in a patient with generalized cortical myoclonus
-
Thompson, PD, Rothwell JC, Brown P, Day BL, Asselman P. Transcallosal and intracortical spread of activity following cortical stimulation in a patient with generalized cortical myoclonus. J Physiol (Lond) 1993; 459: 64P.
-
(1993)
J Physiol (Lond)
, vol.459
-
-
Thompson, P.D.1
Rothwell, J.C.2
Brown, P.3
Day, B.L.4
Asselman, P.5
-
68
-
-
1542360720
-
Familial cortical tremor with epilepsy and cerebellar pathological findings
-
van Rootselaar A, Aronica E, Steur ENHJ, et al. Familial cortical tremor with epilepsy and cerebellar pathological findings. Mov Disord 2004; 19: 213-217.
-
(2004)
Mov Disord
, vol.19
, pp. 213-217
-
-
van Rootselaar, A.1
Aronica, E.2
Steur, E.N.H.J.3
-
69
-
-
38549166211
-
Decreased cortical inhibition and yet cerebellar pathology in 'familial cortical myoclonic tremor with epilepsy.'
-
van Rootselaar AF, van der Salm SM, Bour LJ, et al. Decreased cortical inhibition and yet cerebellar pathology in 'familial cortical myoclonic tremor with epilepsy.' Mov Disord 2007; 22: 2378-2385.
-
(2007)
Mov Disord
, vol.22
, pp. 2378-2385
-
-
van Rootselaar, A.F.1
van der Salm, S.M.2
Bour, L.J.3
-
70
-
-
0034724141
-
Cortical myoclonus and cerebellar pathology
-
Tijssen MAJ, Thom M, Ellison DW, et al. Cortical myoclonus and cerebellar pathology. Neurology 2000; 54: 1350-1356.
-
(2000)
Neurology
, vol.54
, pp. 1350-1356
-
-
Tijssen, M.A.J.1
Thom, M.2
Ellison, D.W.3
-
71
-
-
0041813308
-
Molecular background of progressive myoclonus epilepsy
-
Lehesjoki A-E. Molecular background of progressive myoclonus epilepsy. EMBO J 2003; 22: 3473-3478.
-
(2003)
EMBO J
, vol.22
, pp. 3473-3478
-
-
Lehesjoki, A.-E.1
-
72
-
-
15044357259
-
Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects
-
Shahwan A, Farrell M, Delanty N. Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects. Lancet Neurol 2005; 4: 239-248.
-
(2005)
Lancet Neurol
, vol.4
, pp. 239-248
-
-
Shahwan, A.1
Farrell, M.2
Delanty, N.3
-
73
-
-
78650240097
-
Progressive myoclonic epilepsies: review of clinical, molecular and therapeutic aspects
-
De Siqueira LFM. Progressive myoclonic epilepsies: review of clinical, molecular and therapeutic aspects. J Neurol 2010; 257: 1612-1619.
-
(2010)
J Neurol
, vol.257
, pp. 1612-1619
-
-
De Siqueira, L.F.M.1
-
74
-
-
0032881391
-
Genetic localization of the familial adult myoclonic epilepsy (FAME) gene o chromosome 8q24
-
Plaster NM, Uyama E, Uchino M, et al. Genetic localization of the familial adult myoclonic epilepsy (FAME) gene o chromosome 8q24. Neurology 1999; 53: 1180-1183.
-
(1999)
Neurology
, vol.53
, pp. 1180-1183
-
-
Plaster, N.M.1
Uyama, E.2
Uchino, M.3
-
75
-
-
0033365214
-
Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1
-
Mikami M, Yasuda T, Terao A, et al. Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1. Am J Hum Genet 1999; 65: 745-751.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 745-751
-
-
Mikami, M.1
Yasuda, T.2
Terao, A.3
-
76
-
-
0043237477
-
A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: a candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1
-
Shimizu A, Asakawa S, Sasaki T, et al. A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: a candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1. Biochem Biophys Res Comm 2003; 309: 143-154.
-
(2003)
Biochem Biophys Res Comm
, vol.309
, pp. 143-154
-
-
Shimizu, A.1
Asakawa, S.2
Sasaki, T.3
-
77
-
-
40849144062
-
Array based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis
-
Berkovic SF, Dibbens LM, Oshlack A, et al. Array based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. Am J Hum Genet 2008; 82: 673-684.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 673-684
-
-
Berkovic, S.F.1
Dibbens, L.M.2
Oshlack, A.3
-
78
-
-
70449364101
-
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure
-
Dibbens LM, Berkovic SF, Gambardella A, et al. SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure. Ann Neurol 2009; 66: 532-536.
-
(2009)
Ann Neurol
, vol.66
, pp. 532-536
-
-
Dibbens, L.M.1
Berkovic, S.F.2
Gambardella, A.3
-
79
-
-
0025900901
-
The hyperekplexias and their relationship to the normal startle reflex
-
Brown P, Rothwell JC, Thompson PD, et al. The hyperekplexias and their relationship to the normal startle reflex. Brain 1991; 114: 1903-1928.
-
(1991)
Brain
, vol.114
, pp. 1903-1928
-
-
Brown, P.1
Rothwell, J.C.2
Thompson, P.D.3
-
80
-
-
0026681011
-
Voluntary stimulus-sensitive jerks and jumps mimicking myoclonus or pathological startle syndromes
-
Thompson PD, Colebatch JG, Brown P, et al. Voluntary stimulus-sensitive jerks and jumps mimicking myoclonus or pathological startle syndromes. Mov Disord 1992; 7: 257-262.
-
(1992)
Mov Disord
, vol.7
, pp. 257-262
-
-
Thompson, P.D.1
Colebatch, J.G.2
Brown, P.3
-
82
-
-
0026651547
-
Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis
-
Ryan SG, Sherman SL, Terry JC, et al. Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis. Ann Neurol 1992; 31: 663-668.
-
(1992)
Ann Neurol
, vol.31
, pp. 663-668
-
-
Ryan, S.G.1
Sherman, S.L.2
Terry, J.C.3
-
83
-
-
0027330927
-
Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia
-
Shiang R, Ryan SG, Zhu YZ, et al. Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nat Genet 1993; 5: 351-358.
-
(1993)
Nat Genet
, vol.5
, pp. 351-358
-
-
Shiang, R.1
Ryan, S.G.2
Zhu, Y.Z.3
-
84
-
-
0028361803
-
Startle disease mutations reduce the agonist sensitivity of the human inhibitory glycine receptor
-
Rajendra S, Lynch JW, Pierce KD, et al. Startle disease mutations reduce the agonist sensitivity of the human inhibitory glycine receptor. J Biol Chem 1994; 269: 18739-18742.
-
(1994)
J Biol Chem
, vol.269
, pp. 18739-18742
-
-
Rajendra, S.1
Lynch, J.W.2
Pierce, K.D.3
-
85
-
-
0029016226
-
Molecular genetic reevaluation of the Dutch hyperekplexia family
-
Tijssen MA, Shiang R, van Deutekom J, et al. Molecular genetic reevaluation of the Dutch hyperekplexia family. Arch Neurol 1995; 52: 578-582.
-
(1995)
Arch Neurol
, vol.52
, pp. 578-582
-
-
Tijssen, M.A.1
Shiang, R.2
van Deutekom, J.3
-
86
-
-
0029038869
-
Mutational analysis of familial and sporadic hyperekplexia
-
Shiang R, Ryan SG, Zhu YZ, et al. Mutational analysis of familial and sporadic hyperekplexia. Ann Neurol 1995; 38: 85-91.
-
(1995)
Ann Neurol
, vol.38
, pp. 85-91
-
-
Shiang, R.1
Ryan, S.G.2
Zhu, Y.Z.3
-
87
-
-
0036538280
-
Hyperekplexia associated with compound heterozygote mutations in the beta subunit of the human inhibitory glycine receptor (GLRB)
-
Rees MI, Lewis TM, Kwok JB, et al. Hyperekplexia associated with compound heterozygote mutations in the beta subunit of the human inhibitory glycine receptor (GLRB) Hum Mol Genet 2002; 11: 853-860.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 853-860
-
-
Rees, M.I.1
Lewis, T.M.2
Kwok, J.B.3
-
88
-
-
0041589459
-
Isoform heterogeneity of the human gephyrin gene (GPHN) binding domains to the glycine receptor and mutation analysis in hyperekplexia
-
Rees MI, Harvey K, Ward H, et al. Isoform heterogeneity of the human gephyrin gene (GPHN) binding domains to the glycine receptor and mutation analysis in hyperekplexia. J Biol Chem 2003; 278: 853-860.
-
(2003)
J Biol Chem
, vol.278
, pp. 853-860
-
-
Rees, M.I.1
Harvey, K.2
Ward, H.3
-
89
-
-
3042774411
-
The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering
-
Harvey K, Duguid I, Alldred M, et al. The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering. J Neurosci 2004; 24: 24688-24696.
-
(2004)
J Neurosci
, vol.24
, pp. 24688-24696
-
-
Harvey, K.1
Duguid, I.2
Alldred, M.3
-
90
-
-
33745552512
-
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease
-
Rees MI, Harvey K, Pearce BR, et al. Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease. Nat Genet 2006; 38: 801-806.
-
(2006)
Nat Genet
, vol.38
, pp. 801-806
-
-
Rees, M.I.1
Harvey, K.2
Pearce, B.R.3
-
91
-
-
0017853150
-
Therapeutic effect of piracetam in a case of posthypoxic action myoclonus
-
Terwinghe G, Daumerie J, Nicaise C, Rosillon O. Therapeutic effect of piracetam in a case of posthypoxic action myoclonus. Acta Neurol Belg 1978; 78: 30-36.
-
(1978)
Acta Neurol Belg
, vol.78
, pp. 30-36
-
-
Terwinghe, G.1
Daumerie, J.2
Nicaise, C.3
Rosillon, O.4
-
92
-
-
0024253572
-
Pircetam in the treatment of different types of myoclonus
-
Obeso JA, Artieda J, Quinn N, et al. Pircetam in the treatment of different types of myoclonus. Clin Neuropharmacol 1988; 11: 529-536.
-
(1988)
Clin Neuropharmacol
, vol.11
, pp. 529-536
-
-
Obeso, J.A.1
Artieda, J.2
Quinn, N.3
-
93
-
-
0027395737
-
Effectiveness of piracetam in cortical myoclonus
-
Brown P, Steiger MJ, Thompson PD, et al. Effectiveness of piracetam in cortical myoclonus. Mov Disord 1993; 8: 63-68.
-
(1993)
Mov Disord
, vol.8
, pp. 63-68
-
-
Brown, P.1
Steiger, M.J.2
Thompson, P.D.3
-
94
-
-
0029797919
-
Clinical trial of piracetam in patients with myoclonus: nationwide multiinstitution study in Japan
-
Ikeda A, Shibasaki H, Tashiro K, et al. Clinical trial of piracetam in patients with myoclonus: nationwide multiinstitution study in Japan. Mov Disord 1996; 11: 691-700.
-
(1996)
Mov Disord
, vol.11
, pp. 691-700
-
-
Ikeda, A.1
Shibasaki, H.2
Tashiro, K.3
-
95
-
-
1342266966
-
Levetiracetam in progressive myoclonus epilepsy. An exploratory study in 9 patients
-
Crest C, Dupont S, Leguern E, et al. Levetiracetam in progressive myoclonus epilepsy. An exploratory study in 9 patients. Neurology 2004; 62: 640-643.
-
(2004)
Neurology
, vol.62
, pp. 640-643
-
-
Crest, C.1
Dupont, S.2
Leguern, E.3
-
96
-
-
3042689878
-
Antimyoclonic effect of levetircetam in 13 patients with Unverricht-Lundborg disease: clinical observaions
-
Magaudda A, Gelisse P, Genton P. Antimyoclonic effect of levetircetam in 13 patients with Unverricht-Lundborg disease: clinical observaions. Epilepsia 2004; 45: 678-681.
-
(2004)
Epilepsia
, vol.45
, pp. 678-681
-
-
Magaudda, A.1
Gelisse, P.2
Genton, P.3
-
97
-
-
33644957867
-
Levetiracetam in patients with cortical myoclonus: a clinical and electrophysiological study
-
Striano P, Manganelli F, Boccella P, et al. Levetiracetam in patients with cortical myoclonus: a clinical and electrophysiological study. Mov Disord 2005; 20: 1610-1655.
-
(2005)
Mov Disord
, vol.20
, pp. 1610-1655
-
-
Striano, P.1
Manganelli, F.2
Boccella, P.3
-
98
-
-
33645079375
-
Antimyoclonic effect of levetiracetam in MERRF syndrome
-
Mancuso M, Galli R, Pizzanelli C, et al. Antimyoclonic effect of levetiracetam in MERRF syndrome. J Neurol Sci 2006; 243: 97-99.
-
(2006)
J Neurol Sci
, vol.243
, pp. 97-99
-
-
Mancuso, M.1
Galli, R.2
Pizzanelli, C.3
-
99
-
-
27844459528
-
A pilot tolerability and efficacy trial of sodium oxybate in ethanol-response movement disorders
-
Frucht SJ, Bordlon Y, Houghton WH, et al. A pilot tolerability and efficacy trial of sodium oxybate in ethanol-response movement disorders. Mov Disord 2005; 20: 1330-1337.
-
(2005)
Mov Disord
, vol.20
, pp. 1330-1337
-
-
Frucht, S.J.1
Bordlon, Y.2
Houghton, W.H.3
-
100
-
-
33645738757
-
A single-blind, open-label trial of sodium oxybate for myoclonus and essential tremor
-
Frucht SJ, Houghton WC, Bordelon Y, et al. A single-blind, open-label trial of sodium oxybate for myoclonus and essential tremor. Neurology 2005; 65: 1967-1970.
-
(2005)
Neurology
, vol.65
, pp. 1967-1970
-
-
Frucht, S.J.1
Houghton, W.C.2
Bordelon, Y.3
-
101
-
-
0034720869
-
Unilateral pure thalamic asterixis: Clinical, electromyographic, and topographic patterns
-
Tatu L, Moulin T, Martin V, et al. Unilateral pure thalamic asterixis: Clinical, electromyographic, and topographic patterns. Neurology 2000; 54: 2339-2342.
-
(2000)
Neurology
, vol.54
, pp. 2339-2342
-
-
Tatu, L.1
Moulin, T.2
Martin, V.3
-
102
-
-
0028326219
-
Novel rat cardiac arrest model of posthypoxic myoclonus
-
Truong DD, Matsumoto RR, Schwartz PH, et al. Novel rat cardiac arrest model of posthypoxic myoclonus. Mov Disord 1994; 9: 201-206.
-
(1994)
Mov Disord
, vol.9
, pp. 201-206
-
-
Truong, D.D.1
Matsumoto, R.R.2
Schwartz, P.H.3
-
103
-
-
0029094252
-
Effects of selective serotonergic ligands on posthypoxic audiogenic myoclonus
-
Matsumoto RR, Hussoung MJ, Truong DD. Effects of selective serotonergic ligands on posthypoxic audiogenic myoclonus. Mov Disord 1995; 10: 615-621.
-
(1995)
Mov Disord
, vol.10
, pp. 615-621
-
-
Matsumoto, R.R.1
Hussoung, M.J.2
Truong, D.D.3
-
104
-
-
0032953598
-
Animal model of posthypoxic myoclonus. Effects of serotonergic antagonists
-
Pappert EJ, Goetz CG, Vu TQ, et al. Animal model of posthypoxic myoclonus. Effects of serotonergic antagonists. Neurology 1999; 52: 16-21.
-
(1999)
Neurology
, vol.52
, pp. 16-21
-
-
Pappert, E.J.1
Goetz, C.G.2
Vu, T.Q.3
|