-
1
-
-
0029877369
-
Arthrogryposis multiplex congenita and bilateral parietal polymicrogyria in association with the intrauterine death of a twin
-
Baker EM, Ghazavi Khorasgani M, Gardner-Medwin D, Gholkar A, Griffiths PD. 1996. Arthrogryposis multiplex congenita and bilateral parietal polymicrogyria in association with the intrauterine death of a twin. Neuropediatrics 27:54-56.
-
(1996)
Neuropediatrics
, vol.27
, pp. 54-56
-
-
Baker, E.M.1
Ghazavi Khorasgani, M.2
Gardner-Medwin, D.3
Gholkar, A.4
Griffiths, P.D.5
-
2
-
-
0028226833
-
Congenital cytomegalovirus infection of the brain: Imaging analysis and embryologic considerations
-
Barkovich AJ, Lindan CE. 1994. Congenital cytomegalovirus infection of the brain: Imaging analysis and embryologic considerations. Am J Neuroradiol 15:703-715.
-
(1994)
Am J Neuroradiol
, vol.15
, pp. 703-715
-
-
Barkovich, A.J.1
Lindan, C.E.2
-
3
-
-
0032922640
-
Familial epilepsy with unilateral and bilateral malformations of cortical development
-
Bartolomei F, Gavaret M, Dravet C, Guerrini R. 1999. Familial epilepsy with unilateral and bilateral malformations of cortical development. Epilepsia 40:47-51.
-
(1999)
Epilepsia
, vol.40
, pp. 47-51
-
-
Bartolomei, F.1
Gavaret, M.2
Dravet, C.3
Guerrini, R.4
-
4
-
-
0030828882
-
Enlarged Sylvian fissures in infants with interstitial deletion of chromosome 22q11
-
Bingham PM, Zimmerman RA, McDonald-McGinn D, Driscoll D, Emanuel BS, Zackai E. 1997. Enlarged Sylvian fissures in infants with interstitial deletion of chromosome 22q11. Am J Med Genet 74:538-543.
-
(1997)
Am J Med Genet
, vol.74
, pp. 538-543
-
-
Bingham, P.M.1
Zimmerman, R.A.2
McDonald-McGinn, D.3
Driscoll, D.4
Emanuel, B.S.5
Zackai, E.6
-
6
-
-
0033770467
-
Worster-Drought syndrome, a mild tetraplegic perisylvian cerebral palsy
-
Clark M, Carr L, Reilly S, Neville BGR. 2000. Worster-Drought syndrome, a mild tetraplegic perisylvian cerebral palsy. Brain 123:2160-2170.
-
(2000)
Brain
, vol.123
, pp. 2160-2170
-
-
Clark, M.1
Carr, L.2
Reilly, S.3
Neville, B.G.R.4
-
7
-
-
33748890848
-
Lower motor neurone involvement in perisylvian polymicrogyria
-
Clark M, Pitt M, Neville BGR. 2006. Lower motor neurone involvement in perisylvian polymicrogyria. Dev Med Child Neurol 48:842-846.
-
(2006)
Dev Med Child Neurol
, vol.48
, pp. 842-846
-
-
Clark, M.1
Pitt, M.2
Neville, B.G.R.3
-
8
-
-
0036211908
-
MECP2 mutation in a boy with severe neonatal encephalopathy: Clinical, neuropathological and molecular findings
-
Geerdink N, Rotteveel JJ, Lammens M, Sistermans EA, Heikens GT, Gabreels FJ, Mullaart RA, Hamel BC. 2002. MECP2 mutation in a boy with severe neonatal encephalopathy: Clinical, neuropathological and molecular findings. Neuropediatrics 33:33-36.
-
(2002)
Neuropediatrics
, vol.33
, pp. 33-36
-
-
Geerdink, N.1
Rotteveel, J.J.2
Lammens, M.3
Sistermans, E.A.4
Heikens, G.T.5
Gabreels, F.J.6
Mullaart, R.A.7
Hamel, B.C.8
-
9
-
-
0036224299
-
Polymicrogyria in chromosome 22q11 deletion syndrome
-
Ghariani S, Dahan K, Saint-Martin C, Kadhim H, Morsomme F, Moniotte S, Verellen-Dumoulin C, Sebire G. 2002. Polymicrogyria in chromosome 22q11 deletion syndrome. Eur J Pediatr Neurol 6:73-77.
-
(2002)
Eur J Pediatr Neurol
, vol.6
, pp. 73-77
-
-
Ghariani, S.1
Dahan, K.2
Saint-Martin, C.3
Kadhim, H.4
Morsomme, F.5
Moniotte, S.6
Verellen-Dumoulin, C.7
Sebire, G.8
-
10
-
-
0033930097
-
Familial perisylvian polymicrogyria: A new familial syndrome of cortical maldevelopment
-
Guerreiro MM, Andermann E, Guerrini R, Dobyns WB, Kuzniecky R, Silver K, Van Bogaert P, Gillain C, David P, Ambrosetto G, Rosati A, Bartolomei F, Parmeggiani A, Paetau R, Salonen O, Ignatius J, Borgatti R, Zucca C, Bastos AC, Palmini A, Fernandes W, Montenegro MA, Cendes F, Andermann F. 2000. Familial perisylvian polymicrogyria: A new familial syndrome of cortical maldevelopment. Ann Neurol 48: 39-48.
-
(2000)
Ann Neurol
, vol.48
, pp. 39-48
-
-
Guerreiro, M.M.1
Andermann, E.2
Guerrini, R.3
Dobyns, W.B.4
Kuzniecky, R.5
Silver, K.6
Van Bogaert, P.7
Gillain, C.8
David, P.9
Ambrosetto, G.10
Rosati, A.11
Bartolomei, F.12
Parmeggiani, A.13
Paetau, R.14
Salonen, O.15
Ignatius, J.16
Borgatti, R.17
Zucca, C.18
Bastos, A.C.19
Palmini, A.20
Fernandes, W.21
Montenegro, M.A.22
Cendes, F.23
Andermann, F.24
more..
-
11
-
-
0036265092
-
Epileptgenic brain malformations: Clinical presentation, malformative patterns and indications for genetic testing
-
Guerrini R, Carrozzo R. 2001. Epileptgenic brain malformations: Clinical presentation, malformative patterns and indications for genetic testing. Seizure 10:532-543.
-
(2001)
Seizure
, vol.10
, pp. 532-543
-
-
Guerrini, R.1
Carrozzo, R.2
-
12
-
-
0027473939
-
Congenital bilateral perisylvian syndrome: Study of 31 patients
-
Kuzniecky R, Andemann F, Guerrini R. 1993. Congenital bilateral perisylvian syndrome: Study of 31 patients. Lancet 341:608-612.
-
(1993)
Lancet
, vol.341
, pp. 608-612
-
-
Kuzniecky, R.1
Andemann, F.2
Guerrini, R.3
-
13
-
-
0030203176
-
Discordant clinical and neuroradiological features of congenital bilateral perisylvian syndrome in monozygotic female twins
-
Lenti C, Triulzi F. 1996. Discordant clinical and neuroradiological features of congenital bilateral perisylvian syndrome in monozygotic female twins. Ital J Neurol Sci 17:287-290.
-
(1996)
Ital J Neurol Sci
, vol.17
, pp. 287-290
-
-
Lenti, C.1
Triulzi, F.2
-
14
-
-
0022569697
-
A family with congenital suprabulbar paresis (Worster-Drought syndrome)
-
Patton MA, Baraitser M, Brett EM. 1986. A family with congenital suprabulbar paresis (Worster-Drought syndrome). Clin Genet 29:147-150.
-
(1986)
Clin Genet
, vol.29
, pp. 147-150
-
-
Patton, M.A.1
Baraitser, M.2
Brett, E.M.3
-
15
-
-
33750580533
-
Polymicrogyria and Deletion 22q11. 2 Syndrome
-
Robin NH, Taylor CJ, McDonald-McGinn DM, Zackai EH, Bingham P, Collins KJ, Earl D, Gill D, Granata T, Guerrini R, Katz N, Kimonis V, Lin JP, Lynch DR, Mohammed S, Massey RF, McDonald M, Rogers RC, Splitt M, Stevens C, Tischkowitz MD, Stoodley N, Leventer RJ, Pilz DT, Dobyns WB. 2006. Polymicrogyria and Deletion 22q11. 2 Syndrome. Am J Med Genet Part A 140A:2416-2425.
-
(2006)
Am J Med Genet
, vol.140 A
, Issue.PART A
, pp. 2416-2425
-
-
Robin, N.H.1
Taylor, C.J.2
McDonald-McGinn, D.M.3
Zackai, E.H.4
Bingham, P.5
Collins, K.J.6
Earl, D.7
Gill, D.8
Granata, T.9
Guerrini, R.10
Katz, N.11
Kimonis, V.12
Lin, J.P.13
Lynch, D.R.14
Mohammed, S.15
Massey, R.F.16
McDonald, M.17
Rogers, R.C.18
Splitt, M.19
Stevens, C.20
Tischkowitz, M.D.21
Stoodley, N.22
Leventer, R.J.23
Pilz, D.T.24
Dobyns, W.B.25
more..
-
16
-
-
0038150802
-
Brainstem dysgenesis: Report of five patients with congenital hypotonia, multiple cranial nerve involvement, and ocular motor apraxia
-
Roig M, Gratacos M, Vazquez E, Del-Toro M, Foguet A, Ferrer I, Macaya A. 2003. Brainstem dysgenesis: Report of five patients with congenital hypotonia, multiple cranial nerve involvement, and ocular motor apraxia. Dev Med Child Neurol 45:489-493.
-
(2003)
Dev Med Child Neurol
, vol.45
, pp. 489-493
-
-
Roig, M.1
Gratacos, M.2
Vazquez, E.3
Del-Toro, M.4
Foguet, A.5
Ferrer, I.6
Macaya, A.7
-
17
-
-
33645115357
-
SRPX2 mutations in disorders of language cortex and cognition
-
Roll P, Rudolf G, Pereira S, Royer B, Scheffer I, Massacrier A, Valenti MP, Roeckel-Trevisiol N, Jamili S, Beclin C, Seegmuller C, Metz-Lutz MN, Lemainque A, Delepine M, Caloustian C, de Saint Martin A, Bruneau N, Depetris D, Mattei MG, Flori E, Robaglia-Schlupp A, Levy N, Neubauer BA, Ravid R, Marescaux C, Berkovic S, Hirsch E, Lathrop M, Cau P, Szepetowski P. 2006. SRPX2 mutations in disorders of language cortex and cognition. Human Mol Genet 15:1195-1207.
-
(2006)
Human 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.P.7
Roeckel-Trevisiol, N.8
Jamili, S.9
Beclin, C.10
Seegmuller, C.11
Metz-Lutz, M.N.12
Lemainque, A.13
Delepine, M.14
Caloustian, C.15
de Saint Martin, A.16
Bruneau, N.17
Depetris, D.18
Mattei, M.G.19
Flori, E.20
Robaglia-Schlupp, A.21
Levy, N.22
Neubauer, B.A.23
Ravid, R.24
Marescaux, C.25
Berkovic, S.26
Hirsch, E.27
Lathrop, M.28
Cau, P.29
Szepetowski, P.30
more..
-
18
-
-
0035111419
-
A variant case of congenital bilateral perisylvian syndrome with asymmetric findings on neuroimaging and septum pellucidum defect
-
Sejima H, Takusa Y, Kimura M, Tamaoki Y, Kishi K, Yamaguchi S. 2001. A variant case of congenital bilateral perisylvian syndrome with asymmetric findings on neuroimaging and septum pellucidum defect. Brain Dev 23:131-134.
-
(2001)
Brain Dev
, vol.23
, pp. 131-134
-
-
Sejima, H.1
Takusa, Y.2
Kimura, M.3
Tamaoki, Y.4
Kishi, K.5
Yamaguchi, S.6
-
19
-
-
0024457399
-
Absence of Septum pellucidum and polymicrogyria: A forme fruste of the porencephalic syndrome
-
Siejka S, Strefling AM, Urich H. 1989. Absence of Septum pellucidum and polymicrogyria: A forme fruste of the porencephalic syndrome. Clin Neuropathol 8:174-178.
-
(1989)
Clin Neuropathol
, vol.8
, pp. 174-178
-
-
Siejka, S.1
Strefling, A.M.2
Urich, H.3
-
20
-
-
0030021244
-
Congenital bilateral perisylvian syndrome in a monozygotic twin with intra-uterine death of the co-twin
-
Van Bogaert P, Donner C, David P, Rodesch F, Avni EF, Szliwowski HB. 1996. Congenital bilateral perisylvian syndrome in a monozygotic twin with intra-uterine death of the co-twin. Dev Med Child Neurol 38:166-171.
-
(1996)
Dev Med Child Neurol
, vol.38
, pp. 166-171
-
-
Van Bogaert, P.1
Donner, C.2
David, P.3
Rodesch, F.4
Avni, E.F.5
Szliwowski, H.B.6
-
21
-
-
0031405243
-
State of bilateral opercular disorder and pseudobulbar paralysis of late onset in unilateral perisylvian dysplasia
-
Vaquerizo J, Diaz-Garcia C. 1997. State of bilateral opercular disorder and pseudobulbar paralysis of late onset in unilateral perisylvian dysplasia. Rev Neurol 25:1934-1936.
-
(1997)
Rev Neurol
, vol.25
, pp. 1934-1936
-
-
Vaquerizo, J.1
Diaz-Garcia, C.2
-
22
-
-
0036201466
-
A locus for bilateral perisylvian polymicrogyria maps to Xq28
-
Villard L, Nguyen K, Cardoso C, Martin CL, Weiss AM, Sifry-Platt M, Grix AW, Graham JM Jr, Winter RM, Leventer RJ, Dobyns WB. 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.L.4
Weiss, A.M.5
Sifry-Platt, M.6
Grix, A.W.7
Graham Jr, J.M.8
Winter, R.M.9
Leventer, R.J.10
Dobyns, W.B.11
-
23
-
-
0000828933
-
Congenital suprabulbar paresis
-
Worster-Drought C. 1956. Congenital suprabulbar paresis. J Laryngol Otol 70:453.
-
(1956)
J Laryngol Otol
, vol.70
, pp. 453
-
-
Worster-Drought, C.1
-
26
-
-
0036592903
-
Congenital bilateral perisylvian syndrome associated with congenital constriction band syndrome
-
Yamanouchi H, Imataka G, Hagiwara Y, Nakagawa E, Eguchi M. 2002. Congenital bilateral perisylvian syndrome associated with congenital constriction band syndrome. J Child Neurol 17:448-450.
-
(2002)
J Child Neurol
, vol.17
, pp. 448-450
-
-
Yamanouchi, H.1
Imataka, G.2
Hagiwara, Y.3
Nakagawa, E.4
Eguchi, M.5
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