-
1
-
-
0026606026
-
Non-lissencephalic cortical dysplasia: Correlation of imaging findings with clinical deficits
-
Barkovich AJ, Kjos BO 1992) Non-lissencephalic cortical dysplasia: correlation of imaging findings with clinical deficits. AJNR Am J Neuroradiol 13 : 95 103.
-
(1992)
AJNR Am J Neuroradiol
, vol.13
, pp. 95-103
-
-
Barkovich, A.J.1
Kjos, B.O.2
-
2
-
-
0028226833
-
Congenital cytomegalovirus infection of the brain: Imaging analysis and embryologic considerations
-
Barkovich AJ, Linden CL 1994) Congenital cytomegalovirus infection of the brain: imaging analysis and embryologic considerations. AJNR Am J Neuroradiol 15 : 703 715.
-
(1994)
AJNR Am J Neuroradiol
, vol.15
, pp. 703-715
-
-
Barkovich, A.J.1
Linden, C.L.2
-
5
-
-
2442674052
-
Bilateral generalized polymicrogyria (BGP): A distinct syndrome of cortical malformation
-
Chang BS, Piao X, Giannini C, Cascino GD, Scheffer I, Woods CG, Topcu M, Tezcan K, Bodell A, Leventer RJ, Barkovich AJ, Grant PE, Walsh CA 2004) Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation. Neurology 62 : 1722 1728.
-
(2004)
Neurology
, vol.62
, pp. 1722-1728
-
-
Chang, B.S.1
Piao, X.2
Giannini, C.3
Cascino, G.D.4
Scheffer, I.5
Woods, C.G.6
Topcu, M.7
Tezcan, K.8
Bodell, A.9
Leventer, R.J.10
Barkovich, A.J.11
Grant, P.E.12
Walsh, C.A.13
-
6
-
-
33645829103
-
A familial syndrome of unilateral polymicrogyria affecting the right hemisphere
-
Chang BS, Apse KA, Caraballo R, Cross JH, Mclellan A, Jacobson RD, Valente KD, Barkovich AJ, Walsh CA 2006) A familial syndrome of unilateral polymicrogyria affecting the right hemisphere. Neurology 66 : 133 135.
-
(2006)
Neurology
, vol.66
, pp. 133-135
-
-
Chang, B.S.1
Apse, K.A.2
Caraballo, R.3
Cross, J.H.4
McLellan, A.5
Jacobson, R.D.6
Valente, K.D.7
Barkovich, A.J.8
Walsh, C.A.9
-
7
-
-
57749100373
-
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation
-
Clement E, Mercuri E, Godfrey C, Smith J, Robb S, Kinali M, Straub V, Bushby K, Manzur A, Talim B, Cowan F, Quinlivan R, Klein A, Longman C, Mcwilliam R, Topaloglu H, Mein R, Abbs S, North K, Barkovich AJ, Rutherford M, Muntoni F 2008) Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol 64 : 573 582.
-
(2008)
Ann Neurol
, vol.64
, pp. 573-582
-
-
Clement, E.1
Mercuri, E.2
Godfrey, C.3
Smith, J.4
Robb, S.5
Kinali, M.6
Straub, V.7
Bushby, K.8
Manzur, A.9
Talim, B.10
Cowan, F.11
Quinlivan, R.12
Klein, A.13
Longman, C.14
McWilliam, R.15
Topaloglu, H.16
Mein, R.17
Abbs, S.18
North, K.19
Barkovich, A.J.20
Rutherford, M.21
Muntoni, F.22
more..
-
8
-
-
47149093878
-
Consistent Chromosome Abnormalities Identify Novel Polymicrogyria Loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2
-
Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, Mcdonald-Mcginn D, Medne L, Zackai EH, Parsons J, Zand DJ, Hisama FM, Walsh CA, Leventer RJ, Martin CL, Gajecka M, Shaffer LG 2008) Consistent Chromosome Abnormalities Identify Novel Polymicrogyria Loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. Am J Med Genet A 146A : 1637 1654.
-
(2008)
Am J Med Genet A
, vol.146
, pp. 1637-1654
-
-
Dobyns, W.B.1
Mirzaa, G.2
Christian, S.L.3
Petras, K.4
Roseberry, J.5
Clark, G.D.6
Curry, C.J.7
McDonald-Mcginn, D.8
Medne, L.9
Zackai, E.H.10
Parsons, J.11
Zand, D.J.12
Hisama, F.M.13
Walsh, C.A.14
Leventer, R.J.15
Martin, C.L.16
Gajecka, M.17
Shaffer, L.G.18
-
9
-
-
0001836270
-
Pathology of prenatal encephalopathies
-
French, J. Ed). Paul H. Brookes. Baltimore
-
Evrard P, De Saint-Georges P, Kadhim HJ, Gadisseux J-F 1989) Pathology of prenatal encephalopathies. In French J (Ed) Child neurology and developmental disabilities. Paul H. Brookes, Baltimore, pp. 153 176.
-
(1989)
Child Neurology and Developmental Disabilities
, pp. 153-176
-
-
Evrard, P.1
De Saint-Georges, P.2
Kadhim, H.J.3
Gadisseux, J.-F.4
-
11
-
-
0026649728
-
Epilepsy and focal gyral anomalies detected by MRI: Electroclinico- morphological correlations and follow-up
-
Guerrini R, Dravet C, Raybaud C, Roger J, Bureau M, Battaglia A, Livet MO, Gambarelli D, Robain O 1992) Epilepsy and focal gyral anomalies detected by MRI: electroclinico-morphological correlations and follow-up. Dev Med Child Neurol 34 : 706 718.
-
(1992)
Dev Med Child Neurol
, vol.34
, pp. 706-718
-
-
Guerrini, R.1
Dravet, C.2
Raybaud, C.3
Roger, J.4
Bureau, M.5
Battaglia, A.6
Livet, M.O.7
Gambarelli, D.8
Robain, O.9
-
12
-
-
18244413664
-
Bilateral parasagittal parietooccipital polymicrogyria and epilepsy
-
Guerrini R, Dubeau F, Dulac O, Barkovich AJ, Kuzniecky R, Fett C, Jones-Gottman M, Canapicchi R, Cross H, Fish D, Bananni P, Jambaque I, Andermann F 1997) Bilateral parasagittal parietooccipital polymicrogyria and epilepsy. Ann Neurol 41 : 65 73.
-
(1997)
Ann Neurol
, vol.41
, pp. 65-73
-
-
Guerrini, R.1
Dubeau, F.2
Dulac, O.3
Barkovich, A.J.4
Kuzniecky, R.5
Fett, C.6
Jones-Gottman, M.7
Canapicchi, R.8
Cross, H.9
Fish, D.10
Bananni, P.11
Jambaque, I.12
Andermann, F.13
-
14
-
-
0007558926
-
Ueber eine Kohlenoxydvergiftung im Fetalleben mit Entwicklunsstorung der Hirnrinde
-
Hallervorden J 1949) Ueber eine Kohlenoxydvergiftung im Fetalleben mit Entwicklunsstorung der Hirnrinde. Allg Z Psychiatr 124 : 289 298.
-
(1949)
Allg Z Psychiatr
, vol.124
, pp. 289-298
-
-
Hallervorden, J.1
-
15
-
-
0031044984
-
Muscle-eye-brain disease: A neuropathological study
-
Haltia M, Leivo I, Somer H, Pihko H, Paetau A, Kivelä T, Tarkkanen A, Tomé F, Engvall E, Santavuori P 1997) Muscle-eye-brain disease: a neuropathological study. Ann Neurol 41 : 173 180.
-
(1997)
Ann Neurol
, vol.41
, pp. 173-180
-
-
Haltia, M.1
Leivo, I.2
Somer, H.3
Pihko, H.4
Paetau, A.5
Kivelä, T.6
Tarkkanen, A.7
Tomé, F.8
Engvall, E.9
Santavuori, P.10
-
16
-
-
18844370078
-
Genetics of the polymicrogyria syndromes
-
Jansen A, Andermann E 2005) Genetics of the polymicrogyria syndromes. J Med Genet 42 : 369 378.
-
(2005)
J Med Genet
, vol.42
, pp. 369-378
-
-
Jansen, A.1
Andermann, E.2
-
17
-
-
33750070428
-
The genetic and molecular basis of muscular dystrophy: Roles of cell-matrix linkage in the pathogenesis
-
Kanagawa M, Toda T 2006) The genetic and molecular basis of muscular dystrophy: roles of cell-matrix linkage in the pathogenesis. J Hum Genet 51 : 915 926.
-
(2006)
J Hum Genet
, vol.51
, pp. 915-926
-
-
Kanagawa, M.1
Toda, T.2
-
18
-
-
0027473939
-
Congenital bilateral perisylvian syndrome: Study of 31 patients. the congenital bilateral perisylvian syndrome multicenter collaborative study
-
Kuzniecky R, Andermann F, Guerrini R 1993) Congenital bilateral perisylvian syndrome: study of 31 patients. The congenital bilateral perisylvian syndrome multicenter collaborative study. Lancet 341 : 608 612.
-
(1993)
Lancet
, vol.341
, pp. 608-612
-
-
Kuzniecky, R.1
Andermann, F.2
Guerrini, R.3
-
19
-
-
0028353910
-
Familial diffuse cortical dysplasia
-
Kuzniecky R 1994) Familial diffuse cortical dysplasia. Arch Neurol 51 : 307 310.
-
(1994)
Arch Neurol
, vol.51
, pp. 307-310
-
-
Kuzniecky, R.1
-
20
-
-
0005112405
-
A study of 220 patients with polymicrogyria delineates distinct phenotypes and reveals genetic loci on chromosome 1p, 2p, 6q, 21q, 22q, and Xq
-
Leventer RJ, Lese CM, Cardosi C, Rosenberry J, Weiss A, Stoodley N 2001) A study of 220 patients with polymicrogyria delineates distinct phenotypes and reveals genetic loci on chromosome 1p, 2p, 6q, 21q, 22q, and Xq. Am J Hum Genet 69 : 177.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 177
-
-
Leventer, R.J.1
Lese, C.M.2
Cardosi, C.3
Rosenberry, J.4
Weiss, A.5
Stoodley, N.6
-
21
-
-
45949087568
-
GPR56 regulates pial basement membrane integrity and cortical lamination
-
Li S, Jin Z, Koirala S, Bu L, Xu L, Hynes RO, Walsh CA, Corfas G, Piao X 2008) GPR56 Regulates Pial Basement Membrane Integrity and Cortical Lamination. J Neurosci 28 : 5817 5826.
-
(2008)
J Neurosci
, vol.28
, pp. 5817-5826
-
-
Li, S.1
Jin, Z.2
Koirala, S.3
Bu, L.4
Xu, L.5
Hynes, R.O.6
Walsh, C.A.7
Corfas, G.8
Piao, X.9
-
22
-
-
0004042407
-
-
Oxford University Press. Oxford
-
Norman MG, Mcgillivray BC, Kalousek DK, Hill A, Poskitt KJ 1995) Congenital malformations of the brain: pathologic, embryologic, clinical, radiologic and genetic aspects. Oxford University Press, Oxford.
-
(1995)
Congenital Malformations of the Brain: Pathologic, Embryologic, Clinical, Radiologic and Genetic Aspects
-
-
Norman, M.G.1
McGillivray, B.C.2
Kalousek, D.K.3
Hill, A.4
Poskitt, K.J.5
-
23
-
-
18344389160
-
An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21
-
Piao X, Basel-Vanagaite L, Straussberg R, Grant P, Pugh E, Doheny K, Doan B, Hong S, Shugart Y, Walsh C 2002) An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21. Am J Hum Genet 70 : 1028 1033.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1028-1033
-
-
Piao, X.1
Basel-Vanagaite, L.2
Straussberg, R.3
Grant, P.4
Pugh, E.5
Doheny, K.6
Doan, B.7
Hong, S.8
Shugart, Y.9
Walsh, C.10
-
24
-
-
33645115357
-
SRPX2 mutations in disorders of language cortex and cognition
-
Roll P, Rudolf G, Pereira S, Royer B, Scheffer I, Massacrier A, Valenti M, Roeckel-Trevisiol N, Jamali S, Beclin C, Seegmuller C, Metz-Lutz M, Lemainque A, Delepine M, Caloustian C, De Saint Martin A, Bruneau N, Depétris D, Mattéi M, Flori E, Robaglia-Schlupp A, Lévy N, Neubauer B, Ravid R, Marescaux C, Berkovic S, Hirsch E, Lathrop M, Cau P, Szepetowski P 2006) SRPX2 mutations in disorders of language cortex and cognition. Hum Mol Genet 15 : 1195 1207.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 1195-1207
-
-
Roll, P.1
Rudolf, G.2
Pereira, S.3
Royer, B.4
Scheffer, I.5
Massacrier, A.6
Valenti, M.7
Roeckel-Trevisiol, N.8
Jamali, S.9
Beclin, C.10
Seegmuller, C.11
Metz-Lutz, M.12
Lemainque, A.13
Delepine, M.14
Caloustian, C.15
De Saint Martin, A.16
Bruneau, N.17
Depétris, D.18
Mattéi, M.19
Flori, E.20
Robaglia-Schlupp, A.21
Lévy, N.22
Neubauer, B.23
Ravid, R.24
Marescaux, C.25
Berkovic, S.26
Hirsch, E.27
Lathrop, M.28
Cau, P.29
Szepetowski, P.30
more..
-
25
-
-
0023937158
-
Fukuyama congenital muscular dystrophy as a unique disorder of neuronal migration: A neuropathological review and hypothesis
-
Takada K 1988) Fukuyama congenital muscular dystrophy as a unique disorder of neuronal migration: a neuropathological review and hypothesis. Yonago Acta Med 31 : 1 16.
-
(1988)
Yonago Acta Med
, vol.31
, pp. 1-16
-
-
Takada, K.1
-
26
-
-
0023891589
-
Cortical dysplasia in Fukuyama congenital muscular dystrophy: A Golgi and angioarchitectonic analysis
-
Takada K, Nakamura H, Takashima S 1988) Cortical dysplasia in Fukuyama congenital muscular dystrophy: a Golgi and angioarchitectonic analysis. Acta Neuropathol 76 : 170 178.
-
(1988)
Acta Neuropathol
, vol.76
, pp. 170-178
-
-
Takada, K.1
Nakamura, H.2
Takashima, S.3
-
27
-
-
0038517267
-
The changing MR imaging appearance of polymicrogyria: A consequence of myelination
-
Takanashi J, Barkovich A 2003) The changing MR imaging appearance of polymicrogyria: a consequence of myelination. AJNR Am J Neuroradiol 24 : 788 793.
-
(2003)
AJNR Am J Neuroradiol
, vol.24
, pp. 788-793
-
-
Takanashi, J.1
Barkovich, A.2
-
28
-
-
26944438148
-
POMT2 mutations cause {alpha}-dystroglycan hypoglycosylation and Walker-Warburg syndrome
-
Van Reeuwijk J, Janssen M, Van Den Elzen C, Beltran-Valero De Bernabe D, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen MA, Verrips A, Walsh CA, Barth PG, Brunner HG, Van Bokhoven H 2005) POMT2 mutations cause {alpha}-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet 42 : 907 912.
-
(2005)
J Med Genet
, vol.42
, pp. 907-912
-
-
Van Reeuwijk, J.1
Janssen, M.2
Van Den Elzen, C.3
Beltran-Valero De Bernabe, D.4
Sabatelli, P.5
Merlini, L.6
Boon, M.7
Scheffer, H.8
Brockington, M.9
Muntoni, F.10
Huynen, M.A.11
Verrips, A.12
Walsh, C.A.13
Barth, P.G.14
Brunner, H.G.15
Van Bokhoven, H.16
-
29
-
-
34250352221
-
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome
-
Van Reeuwijk J, Grewal P, Salih M, Beltrán-Valero De Bernabé D, Mclaughlan J, Michielse C, Herrmann R, Hewitt J, Steinbrecher A, Seidahmed M, Shaheed M, Abomelha A, Brunner H, Van Bokhoven H, Voit T 2007) Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. Hum Genet 121 : 685 690.
-
(2007)
Hum Genet
, vol.121
, pp. 685-690
-
-
Van Reeuwijk, J.1
Grewal, P.2
Salih, M.3
Beltrán-Valero De Bernabé, D.4
McLaughlan, J.5
Michielse, C.6
Herrmann, R.7
Hewitt, J.8
Steinbrecher, A.9
Seidahmed, M.10
Shaheed, M.11
Abomelha, A.12
Brunner, H.13
Van Bokhoven, H.14
Voit, T.15
-
30
-
-
0036201466
-
A locus for bilateral perisylvian polymicrogyria maps to Xq28
-
Villard L, Nguyen K, Cardoso C, Martin C, Weiss A, Silfry-Platt M, Grix A, Graham J Jr., Winter R, Leventer R, Dobyns W 2002) A locus for bilateral perisylvian polymicrogyria maps to Xq28. Am J Hum Genet 70 : 1003 1008.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1003-1008
-
-
Villard, L.1
Nguyen, K.2
Cardoso, C.3
Martin, C.4
Weiss, A.5
Silfry-Platt, M.6
Grix, A.7
Graham Jr., J.8
Winter, R.9
Leventer, R.10
Dobyns, W.11
-
31
-
-
0031175068
-
Congenital lymphocytic choriomeningitis virus syndrome: A disease that mimics congenital toxoplasmosis or Cytomegalovirus infection
-
Wright R, Johnson D, Neumann M, Ksiazek TG, Rollin P, Keech RV, Bonthius DJ, Hitchon P, Grose CF, Bell WE, Bale JF Jr. 1997) Congenital lymphocytic choriomeningitis virus syndrome: a disease that mimics congenital toxoplasmosis or Cytomegalovirus infection. Pediatrics 100 : E9.
-
(1997)
Pediatrics
, vol.100
, pp. 9
-
-
Wright, R.1
Johnson, D.2
Neumann, M.3
Ksiazek, T.G.4
Rollin, P.5
Keech, R.V.6
Bonthius, D.J.7
Hitchon, P.8
Grose, C.F.9
Bell, W.E.10
Bale Jr., J.F.11
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