-
2
-
-
67651164900
-
-
Genton P, Malafosse A, Moulard B, et al. Progressive myoclonus epilepsies. In: Roger J, Bureau M, Dravet Ch, Genton P, Tassinari CA, Wolf P, editors. Epileptic syndromes in infancy, childhood and adolescence, 4th ed. Montrouge: John Libbey Eurotext; 2005. p 441-465.
-
Genton P, Malafosse A, Moulard B, et al. Progressive myoclonus epilepsies. In: Roger J, Bureau M, Dravet Ch, Genton P, Tassinari CA, Wolf P, editors. Epileptic syndromes in infancy, childhood and adolescence, 4th ed. Montrouge: John Libbey Eurotext; 2005. p 441-465.
-
-
-
-
3
-
-
0036366581
-
-
Frucht SJ, Leurgans SE, Hallett M, Fahn S. The unified myoclonus rating scale. In: Fahn S, et al., editors. Myoclonus and paroxysmal dyskinesias. Advances in neurology, 89. Philadelphia: Lippincott Williams & Wilkins; 2002.
-
Frucht SJ, Leurgans SE, Hallett M, Fahn S. The unified myoclonus rating scale. In: Fahn S, et al., editors. Myoclonus and paroxysmal dyskinesias. Advances in neurology, Vol. 89. Philadelphia: Lippincott Williams & Wilkins; 2002.
-
-
-
-
4
-
-
0030964106
-
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy
-
Lalioti MD, Scott HS, Buresi C, et al. Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature 1997;386:846-851.
-
(1997)
Nature
, vol.386
, pp. 846-851
-
-
Lalioti, M.D.1
Scott, H.S.2
Buresi, C.3
-
5
-
-
16944365407
-
Identification of mutation in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1)
-
Lalioti MD, Mirotsou M, Buresi C, et al. Identification of mutation in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). Am J Hum Genet 1997;60:342-351.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 342-351
-
-
Lalioti, M.D.1
Mirotsou, M.2
Buresi, C.3
-
6
-
-
0034951327
-
Mitochondrial DNA mutations in human disease
-
Di Mauro S, Schon EA. Mitochondrial DNA mutations in human disease. Am J Med Genet 2001;106:18-26.
-
(2001)
Am J Med Genet
, vol.106
, pp. 18-26
-
-
Di Mauro, S.1
Schon, E.A.2
-
7
-
-
33745251006
-
Unverricht-Lundborg disease, a condition with self-limited progression: Long-term follow-up of 20 patients
-
Magaudda A, Ferlazzo E, Nguyen VH, Genton P. Unverricht-Lundborg disease, a condition with self-limited progression: long-term follow-up of 20 patients. Epilepsia 2006;5:860-866.
-
(2006)
Epilepsia
, vol.5
, pp. 860-866
-
-
Magaudda, A.1
Ferlazzo, E.2
Nguyen, V.H.3
Genton, P.4
-
8
-
-
0016348386
-
-
Tassinari CA, Bureau-Paillas M, Grasso E, Roger J. Electro-encephalographic study of myoclonic cerebellar dyssynergia with epilepsy (Ramsay-Hunt syndrome). Rev Electroencephalogr Neurophysiol Clin 1974;3:407-428.
-
Tassinari CA, Bureau-Paillas M, Grasso E, Roger J. Electro-encephalographic study of myoclonic cerebellar dyssynergia with epilepsy (Ramsay-Hunt syndrome). Rev Electroencephalogr Neurophysiol Clin 1974;3:407-428.
-
-
-
-
9
-
-
0027415727
-
Progressive myoclonus epilepsies: An electroclinical, biochemical, morphological and molecular genetic study of 17 cases
-
Franceschetti S, Antozzi C, Binelli S, et al. Progressive myoclonus epilepsies: an electroclinical, biochemical, morphological and molecular genetic study of 17 cases. Acta Neurol Scand 1993;3: 219-223.
-
(1993)
Acta Neurol Scand
, vol.3
, pp. 219-223
-
-
Franceschetti, S.1
Antozzi, C.2
Binelli, S.3
-
10
-
-
33847227739
-
Long-term evolution of EEG in Unverricht-Lundborg disease
-
Ferlazzo E, Magaudda A, Striano P, Vi-Hong N, Serra S, Genton P. Long-term evolution of EEG in Unverricht-Lundborg disease. Epilepsy Res 2007;73:219-227.
-
(2007)
Epilepsy Res
, vol.73
, pp. 219-227
-
-
Ferlazzo, E.1
Magaudda, A.2
Striano, P.3
Vi-Hong, N.4
Serra, S.5
Genton, P.6
-
11
-
-
20144376593
-
A new clinical and molecular form of Unverricht- Lundborg disease localized by homozygosity mapping
-
Berkovic SF, Mazarib A, Walid S, et al. A new clinical and molecular form of Unverricht- Lundborg disease localized by homozygosity mapping. Brain 2005;128:652-658.
-
(2005)
Brain
, vol.128
, pp. 652-658
-
-
Berkovic, S.F.1
Mazarib, A.2
Walid, S.3
-
12
-
-
19944429457
-
An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures
-
Straussberg R, Basel-Vanagaite L, Kivity S, et al. An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures. Neurology 2005;64:142-144.
-
(2005)
Neurology
, vol.64
, pp. 142-144
-
-
Straussberg, R.1
Basel-Vanagaite, L.2
Kivity, S.3
-
13
-
-
55049083176
-
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome
-
Bassuk AG, Wallace RH, Buhr A, et al. A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet 2008; 83:572-581
-
(2008)
Am J Hum Genet
, vol.83
, pp. 572-581
-
-
Bassuk, A.G.1
Wallace, R.H.2
Buhr, A.3
-
14
-
-
34548710836
-
Advances in lafora progressive myoclonus epilepsy
-
Delgado-Escueta AV. Advances in lafora progressive myoclonus epilepsy. Curr Neurol Neurosci Rep 2007;5:428-433.
-
(2007)
Curr Neurol Neurosci Rep
, vol.5
, pp. 428-433
-
-
Delgado-Escueta, A.V.1
-
15
-
-
0032965666
-
Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy
-
Minassian BA, Sainz J, Serratosa JM, et al. Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy. Ann Neurol 1999;45:262-265.
-
(1999)
Ann Neurol
, vol.45
, pp. 262-265
-
-
Minassian, B.A.1
Sainz, J.2
Serratosa, J.M.3
-
16
-
-
0242583977
-
Autosomal dominant adult neuronal ceroid lipofuscinosis: A novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency
-
Nijssen PC, Ceuterick C, van Diggelen OP, et al. Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency. Brain Pathol 2003;4:574-581.
-
(2003)
Brain Pathol
, vol.4
, pp. 574-581
-
-
Nijssen, P.C.1
Ceuterick, C.2
van Diggelen, O.P.3
-
17
-
-
0031983764
-
The neuronal ceroid lipofuscinoses. Recent advances
-
Goebel HH, Sharp JD. The neuronal ceroid lipofuscinoses. Recent advances. Brain Pathol 1998;8:151-162.
-
(1998)
Brain Pathol
, vol.8
, pp. 151-162
-
-
Goebel, H.H.1
Sharp, J.D.2
-
18
-
-
0347994917
-
Patient homozygous for a recessive POLG mutation presents with features of MERRF
-
Van Goethem G, Mercelis R, Löfgren A, et al. Patient homozygous for a recessive POLG mutation presents with features of MERRF. Neurology 2003;61:1811-1813.
-
(2003)
Neurology
, vol.61
, pp. 1811-1813
-
-
Van Goethem, G.1
Mercelis, R.2
Löfgren, A.3
-
19
-
-
39749121457
-
POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection
-
Engelsen BA, Tzoulis C, Karlsen B, et al. POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain 2008;131:818-828.
-
(2008)
Brain
, vol.131
, pp. 818-828
-
-
Engelsen, B.A.1
Tzoulis, C.2
Karlsen, B.3
-
20
-
-
34447522241
-
Mutation of a potassium channel-related gene in progressive myoclonic epilepsy
-
Van Bogaert P, Azizieh R, Desir J, et al. Mutation of a potassium channel-related gene in progressive myoclonic epilepsy. Ann Neurol 2007;61:579-586.
-
(2007)
Ann Neurol
, vol.61
, pp. 579-586
-
-
Van Bogaert, P.1
Azizieh, R.2
Desir, J.3
-
21
-
-
0024396245
-
Myoclonus and adult coeliac disease
-
Tison F, Arne P, Henry P. Myoclonus and adult coeliac disease. J Neurol 1989;236:307-308
-
(1989)
J Neurol
, vol.236
, pp. 307-308
-
-
Tison, F.1
Arne, P.2
Henry, P.3
-
22
-
-
0028864352
-
Progressive myoclonic ataxia associated with coeliac disease. The myoclonus is of cortical origin, but the pathology is in the cerebellum
-
Bhatia KP, Brown P, Gregory R, et al. Progressive myoclonic ataxia associated with coeliac disease. The myoclonus is of cortical origin, but the pathology is in the cerebellum. Brain 1995; 118:1087-1093.
-
(1995)
Brain
, vol.118
, pp. 1087-1093
-
-
Bhatia, K.P.1
Brown, P.2
Gregory, R.3
-
23
-
-
0022600226
-
Biotin-responsive encephalopathy with myoclonus, ataxia, and seizures
-
Bressman S, Fahn S, Eisenberg M, Brin M, Maltese W. Biotin-responsive encephalopathy with myoclonus, ataxia, and seizures. Adv Neurol 1986;43:119-125.
-
(1986)
Adv Neurol
, vol.43
, pp. 119-125
-
-
Bressman, S.1
Fahn, S.2
Eisenberg, M.3
Brin, M.4
Maltese, W.5
-
24
-
-
0022222913
-
Biotinidase de.ciency: Initial clinical features and rapid diagnosis
-
Wolf B, Heard GS, Weissbecker KA, Seco MC, Voy JR, Grier RE, Leshner RT. Biotinidase de.ciency: initial clinical features and rapid diagnosis. Ann Neurol 1985;18:614-617.
-
(1985)
Ann Neurol
, vol.18
, pp. 614-617
-
-
Wolf, B.1
Heard, G.S.2
Weissbecker, K.A.3
Seco, M.C.4
Voy, J.R.5
Grier, R.E.6
Leshner, R.T.7
-
25
-
-
23944475187
-
Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation
-
Coppola G, Criscuolo C, De Michele G, et al. Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation. J Neurol 2005;252:897-900.
-
(2005)
J Neurol
, vol.252
, pp. 897-900
-
-
Coppola, G.1
Criscuolo, C.2
De Michele, G.3
|