-
2
-
-
0001617608
-
Lafora disease, a form of progressive myoclonus epilepsy
-
P.J. Vinken, Bruyn G.W. Amsterdam: North-Holland
-
Van Heycop Ten Ham M.W. Lafora disease, a form of progressive myoclonus epilepsy. Vinken P.J., Bruyn G.W. The Epilepsies. Handbook of Clinical Neurology. vol. 15:1975;382-422 North-Holland, Amsterdam.
-
(1975)
The Epilepsies. Handbook of Clinical Neurology
, vol.15
, pp. 382-422
-
-
Van Heycop Ten Ham, M.W.1
-
3
-
-
18444405220
-
Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice
-
Ganesh S., Delgado-Escueta A.V., Sakamoto T., Avila M.R., Machado-Salas J., Hoshii Y., Akagi T., Gomi H., Suzuki T., Amano K., Agarwala K.L., Hasegawa Y., Bai D.S., Ishihara T., Hashikawa T., Itohara S., Cornford E.M., Niki H., Yamakawa K. Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice. Hum. Mol. Genet. 11:2002;1251-1262.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 1251-1262
-
-
Ganesh, S.1
Delgado-Escueta, A.V.2
Sakamoto, T.3
Avila, M.R.4
MacHado-Salas, J.5
Hoshii, Y.6
Akagi, T.7
Gomi, H.8
Suzuki, T.9
Amano, K.10
Agarwala, K.L.11
Hasegawa, Y.12
Bai, D.S.13
Ishihara, T.14
Hashikawa, T.15
Itohara, S.16
Cornford, E.M.17
Niki, H.18
Yamakawa, K.19
-
4
-
-
18444366477
-
Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: Exon 1 mutations associate with an early-onset cognitive deficit subphenotype
-
Ganesh S., Delgado-Escueta, A.V., Suzuki T., Francheschetti, S., Riggio C., Avanzini G., Rabinowicz A., Bohlega S., Bailey J., Alonso M.E., Rasmussen A., Thomson A.E., Ochoa A., Prado A.J., Medina M.T., Yamakawa K. Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype. Hum. Mol. Genet. 11:2002;1263-1271.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 1263-1271
-
-
Ganesh, S.1
Delgado-Escueta, A.V.2
Suzuki, T.3
Francheschetti, S.4
Riggio, C.5
Avanzini, G.6
Rabinowicz, A.7
Bohlega, S.8
Bailey, J.9
Alonso, M.E.10
Rasmussen, A.11
Thomson, A.E.12
Ochoa, A.13
Prado, A.J.14
Medina, M.T.15
Yamakawa, K.16
-
5
-
-
0029082843
-
The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q
-
Serratosa J.M., Delgado-Escueta A.V., Posada I., Shih S., Drury I., Berciano J., Zabala J.A., Antunez M.C., Sparkes R.S. The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q. Hum. Mol. Genet. 4:1995;1657-1663.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1657-1663
-
-
Serratosa, J.M.1
Delgado-Escueta, A.V.2
Posada, I.3
Shih, S.4
Drury, I.5
Berciano, J.6
Zabala, J.A.7
Antunez, M.C.8
Sparkes, R.S.9
-
6
-
-
0030730226
-
Lafora progressive myoclonus epilepsy: Narrowing the chromosome6q24 locus by recombinations and homozygosities
-
Sainz J., Minassian B.A., Serratosa J.M., Gee M.N., Sakamoto L.M., Iranmanesh R., Bohlega S., Baumann R.J., Ryan S., Sparkes R.S., Delgado-Escueta A.V. Lafora progressive myoclonus epilepsy: narrowing the chromosome6q24 locus by recombinations and homozygosities. Am. J. Hum. Genet. 61:1997;1205-1209.
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 1205-1209
-
-
Sainz, J.1
Minassian, B.A.2
Serratosa, J.M.3
Gee, M.N.4
Sakamoto, L.M.5
Iranmanesh, R.6
Bohlega, S.7
Baumann, R.J.8
Ryan, S.9
Sparkes, R.S.10
Delgado-Escueta, A.V.11
-
7
-
-
17344362307
-
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy
-
Minassian B.A., Lee J.R., Herbrick J.A., Huizenga J., Soder S., Mungall A.J., Dunham I., Gardner R., Fong C.Y., Carpenter S. Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Nat. Genet. 20:1998;171-174.
-
(1998)
Nat. Genet.
, vol.20
, pp. 171-174
-
-
Minassian, B.A.1
Lee, J.R.2
Herbrick, J.A.3
Huizenga, J.4
Soder, S.5
Mungall, A.J.6
Dunham, I.7
Gardner, R.8
Fong, C.Y.9
Carpenter, S.10
-
8
-
-
0344359726
-
A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)
-
Serratosa J.M., Gomez-Garre P., Gallardo M.E., Anta B., de Bernabe D.B., Lindhout D., Augustijn P.B., Tassinari C.A., Malafosse R.M., Topcu M. A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2). Hum. Mol. Genet. 8:1999;345-352.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 345-352
-
-
Serratosa, J.M.1
Gomez-Garre, P.2
Gallardo, M.E.3
Anta, B.4
De Bernabe, D.B.5
Lindhout, D.6
Augustijn, P.B.7
Tassinari, C.A.8
Malafosse, R.M.9
Topcu, M.10
-
9
-
-
0034703182
-
Laforin, defective in the progressive myoclonus epilepsy of lafora type, is a dual-specificity phosphatase associated with polyribosomes
-
Ganesh S., Agarwala K.L., Ueda K., Akagi T., Shoda K., Usui T., Hashikawa T., Osada H., Delgado-Escueta A.V., Yamakawa K. Laforin, defective in the progressive myoclonus epilepsy of lafora type, is a dual-specificity phosphatase associated with polyribosomes. Hum. Mol. Genet. 9:2000;2251-2261.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 2251-2261
-
-
Ganesh, S.1
Agarwala, K.L.2
Ueda, K.3
Akagi, T.4
Shoda, K.5
Usui, T.6
Hashikawa, T.7
Osada, H.8
Delgado-Escueta, A.V.9
Yamakawa, K.10
-
10
-
-
0034711737
-
Identification of new and common mutations in the EPM2A gene in Lafora's disease
-
Minassian B.A., Ianzano L., Delgado-Escueta A.V., Scherer S.W. Identification of new and common mutations in the EPM2A gene in Lafora's disease. Neurology. 54:2000;488-490.
-
(2000)
Neurology
, vol.54
, pp. 488-490
-
-
Minassian, B.A.1
Ianzano, L.2
Delgado-Escueta, A.V.3
Scherer, S.W.4
-
11
-
-
0033842001
-
Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy
-
Minassian B.A., Ianzano L., Meloche M., Andermann E., Rouleau G.A., Delgado-Escueta A.V., Scherer S.W. Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy. Neurology. 55:2000;341-346.
-
(2000)
Neurology
, vol.55
, pp. 341-346
-
-
Minassian, B.A.1
Ianzano, L.2
Meloche, M.3
Andermann, E.4
Rouleau, G.A.5
Delgado-Escueta, A.V.6
Scherer, S.W.7
-
12
-
-
0034500405
-
Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: High degree of allelic heterogeneity and prevalence of deletions
-
Gomez-Garre P., Sanz Y., de Cordoba S.R., Serratosa J.M. Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions. Eur. J. Hum. Genet. 8:2000;946-954.
-
(2000)
Eur. J. Hum. Genet.
, vol.8
, pp. 946-954
-
-
Gomez-Garre, P.1
Sanz, Y.2
De Cordoba, S.R.3
Serratosa, J.M.4
-
13
-
-
0034805823
-
Regional and developmental expression of Epm2a gene and its evolutionary conservation
-
Ganesh S., Agarwala K.L., Amano K., Suzuki T., Delgado-Escueta A.V., Yamakawa K. Regional and developmental expression of Epm2a gene and its evolutionary conservation. Biochem. Biophys. Res. Commun. 283:2001;1046-1053.
-
(2001)
Biochem. Biophys. Res. Commun.
, vol.283
, pp. 1046-1053
-
-
Ganesh, S.1
Agarwala, K.L.2
Amano, K.3
Suzuki, T.4
Delgado-Escueta, A.V.5
Yamakawa, K.6
-
14
-
-
0037169553
-
A unique carbohydrate binding domain targets the Lafora disease phosphatase to glycogen
-
Wang J., Stuckey J.A., Wishart M.J., Dixon J.E. A unique carbohydrate binding domain targets the Lafora disease phosphatase to glycogen. J. Biol. Chem. 277:2002;2377-2380.
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 2377-2380
-
-
Wang, J.1
Stuckey, J.A.2
Wishart, M.J.3
Dixon, J.E.4
-
15
-
-
0014306984
-
Studies in myoclonus epilepsy (Lafora body form)
-
Yokoi S., Austin J. Studies in myoclonus epilepsy (Lafora body form). Arch. Neurol. 19:1968;15-33.
-
(1968)
Arch. Neurol.
, vol.19
, pp. 15-33
-
-
Yokoi, S.1
Austin, J.2
-
16
-
-
0016759902
-
Biochemical studies on tissues from a patient with Lafora disease
-
Yokoi S., Nakayama H., Negishi T. Biochemical studies on tissues from a patient with Lafora disease. Clin. Chim. Acta. 62:1975;415-423.
-
(1975)
Clin. Chim. Acta
, vol.62
, pp. 415-423
-
-
Yokoi, S.1
Nakayama, H.2
Negishi, T.3
-
17
-
-
0032937953
-
Corpora-amylacea and the family of polyglucosan diseases
-
Cavanagh J.B. Corpora-amylacea and the family of polyglucosan diseases. Brain Res. Rev. 29:1999;265-295.
-
(1999)
Brain Res. Rev.
, vol.29
, pp. 265-295
-
-
Cavanagh, J.B.1
-
18
-
-
0025166599
-
Purification and polypeptide composition of corpora amylacea from aged human brain
-
Steyaert A., Cisse S., Merhi Y., Kalbakji A., Reid N., Gauvreau D., Lacoste-Royal G. Purification and polypeptide composition of corpora amylacea from aged human brain. J. Neurosci. Methods. 31:1990;59-64.
-
(1990)
J. Neurosci. Methods
, vol.31
, pp. 59-64
-
-
Steyaert, A.1
Cisse, S.2
Merhi, Y.3
Kalbakji, A.4
Reid, N.5
Gauvreau, D.6
Lacoste-Royal, G.7
-
19
-
-
0023736763
-
Monoclonal antibody against polyglucosan isolated from the myocardium of a patient with Lafora disease
-
Yokota T., Ishihara T., Yoshida H., Takahashi M., Uchino F., Hamanaka S. Monoclonal antibody against polyglucosan isolated from the myocardium of a patient with Lafora disease. J. Neuropathol. Exp. Neurol. 47:1988;572-577.
-
(1988)
J. Neuropathol. Exp. Neurol.
, vol.47
, pp. 572-577
-
-
Yokota, T.1
Ishihara, T.2
Yoshida, H.3
Takahashi, M.4
Uchino, F.5
Hamanaka, S.6
-
20
-
-
0035197017
-
Mutation screening for Japanese Lafora's disease patients: Identification of novel sequence variants in the coding and upstream regulatory regions of EPM2A gene
-
Ganesh S., Shoda K., Amano K., Uchiyama A., Kumada S., Moriyama N., Hirose S., Yamakawa K. Mutation screening for Japanese Lafora's disease patients: identification of novel sequence variants in the coding and upstream regulatory regions of EPM2A gene. Mol. Cell. Probes. 15:2001;281-289.
-
(2001)
Mol. Cell. Probes
, vol.15
, pp. 281-289
-
-
Ganesh, S.1
Shoda, K.2
Amano, K.3
Uchiyama, A.4
Kumada, S.5
Moriyama, N.6
Hirose, S.7
Yamakawa, K.8
-
21
-
-
0033515893
-
Isolation and characterization of mouse homologue for the human epilepsy gene, EPM2A
-
Ganesh S., Amano K., Delgado-Escueta A.V., Yamakawa K. Isolation and characterization of mouse homologue for the human epilepsy gene, EPM2A. Biochem. Biophys. Res. Commun. 257:1999;24-28.
-
(1999)
Biochem. Biophys. Res. Commun.
, vol.257
, pp. 24-28
-
-
Ganesh, S.1
Amano, K.2
Delgado-Escueta, A.V.3
Yamakawa, K.4
-
22
-
-
0014306984
-
Studies in myoclonus epilepsy (Lafora body form). I. Isolation and preliminary characterization of Lafora bodies in two cases
-
Yokoi S., Austin J., Witmer F., Sakai M. Studies in myoclonus epilepsy (Lafora body form). I. Isolation and preliminary characterization of Lafora bodies in two cases. Arch. Neurol. 19:1968;15-33.
-
(1968)
Arch. Neurol.
, vol.19
, pp. 15-33
-
-
Yokoi, S.1
Austin, J.2
Witmer, F.3
Sakai, M.4
-
23
-
-
0015172007
-
Myoclonic epilepsy with lafora bodies. Some ultrastructural, histochemical, and biochemical aspects
-
Gambetti P., Di Mauro S., Hirt L., Blume R.P. Myoclonic epilepsy with lafora bodies. Some ultrastructural, histochemical, and biochemical aspects. Arch. Neurol. 25:1971;483-493.
-
(1971)
Arch. Neurol.
, vol.25
, pp. 483-493
-
-
Gambetti, P.1
Di Mauro, S.2
Hirt, L.3
Blume, R.P.4
-
24
-
-
0014739101
-
Studies in myoclonus epilepsy (Lafora body form). II. Polyglucosans in the systemic deposits of myoclonus epilepsy and in corpora amylacea
-
Sakai M., Austin J., Witmer F., Trueb L. Studies in myoclonus epilepsy (Lafora body form). II. Polyglucosans in the systemic deposits of myoclonus epilepsy and in corpora amylacea. Neurology. 20:1970;160-176.
-
(1970)
Neurology
, vol.20
, pp. 160-176
-
-
Sakai, M.1
Austin, J.2
Witmer, F.3
Trueb, L.4
-
25
-
-
0018395591
-
Glycogen accumulation in the nerves and kidney of chronically diabetic rats. A quantitative electron microscopic study
-
Powell H.C., Ward H.W., Garrett R.S., Orloff M.J., Lampert P.W. Glycogen accumulation in the nerves and kidney of chronically diabetic rats. A quantitative electron microscopic study. J. Neuropathol. Exp. Neurol. 38:1979;114-127.
-
(1979)
J. Neuropathol. Exp. Neurol.
, vol.38
, pp. 114-127
-
-
Powell, H.C.1
Ward, H.W.2
Garrett, R.S.3
Orloff, M.J.4
Lampert, P.W.5
-
26
-
-
0029828747
-
Advanced glycosylation end-products and heat shock proteins accumulate in the basophilic degeneration of the myocardium and the corpora amylacea of the glia
-
Iwaki T., Hamada Y., Tateishi J. Advanced glycosylation end-products and heat shock proteins accumulate in the basophilic degeneration of the myocardium and the corpora amylacea of the glia. Pathol. Int. 46:1996;757-763.
-
(1996)
Pathol. Int.
, vol.46
, pp. 757-763
-
-
Iwaki, T.1
Hamada, Y.2
Tateishi, J.3
-
27
-
-
0028304625
-
Enhanced cellular oxidant stress by the interaction of advanced glycation end products with their receptors/binding proteins
-
Yan S.D., Schmidt A.M., Anderson G.M., Zhang J., Brett J., Zou Y.S., Pinsky D., Stern D. Enhanced cellular oxidant stress by the interaction of advanced glycation end products with their receptors/binding proteins. J. Biol. Chem. 269:1994;9889-9897.
-
(1994)
J. Biol. Chem.
, vol.269
, pp. 9889-9897
-
-
Yan, S.D.1
Schmidt, A.M.2
Anderson, G.M.3
Zhang, J.4
Brett, J.5
Zou, Y.S.6
Pinsky, D.7
Stern, D.8
-
28
-
-
0034695098
-
The biology of the receptor for advanced glycation end products and its ligands
-
Schmidt A.M., Yan S.D., Yan S.F., Stern D.M. The biology of the receptor for advanced glycation end products and its ligands. Biochim. Biophys. Acta. 1498:2000;99-111.
-
(2000)
Biochim. Biophys. Acta
, vol.1498
, pp. 99-111
-
-
Schmidt, A.M.1
Yan, S.D.2
Yan, S.F.3
Stern, D.M.4
-
29
-
-
0018940303
-
A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: A report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora's disease and normal ageing
-
Robitaille Y., Carpenter S., Karpati G., DiMauro S.D. A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora's disease and normal ageing. Brain. 103:1980;315-336.
-
(1980)
Brain
, vol.103
, pp. 315-336
-
-
Robitaille, Y.1
Carpenter, S.2
Karpati, G.3
Dimauro, S.D.4
-
30
-
-
0141702227
-
The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain
-
Ganesh S., Tsurutani N., Suzuki T., Ueda K., Agarwala K.L., Osada H., Delgado-Escueta A.V., Yamakawa K. The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain. Hum. Mol. Genet. 12:2003;2359-2368.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 2359-2368
-
-
Ganesh, S.1
Tsurutani, N.2
Suzuki, T.3
Ueda, K.4
Agarwala, K.L.5
Osada, H.6
Delgado-Escueta, A.V.7
Yamakawa, K.8
|