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Items: 1 to 20 of 168

1.

Genetic malformations of cortical development.

Guerrini R, Marini C.

Exp Brain Res. 2006 Aug;173(2):322-33. Epub 2006 May 25. Review.

PMID:
16724181
2.

Neuronal migration disorders, genetics, and epileptogenesis.

Guerrini R, Filippi T.

J Child Neurol. 2005 Apr;20(4):287-99. Review.

PMID:
15921228
3.

Diffuse malformations of cortical development.

Bahi-Buisson N, Guerrini R.

Handb Clin Neurol. 2013;111:653-65. doi: 10.1016/B978-0-444-52891-9.00068-3. Review.

PMID:
23622213
4.

Genetic malformations of the cerebral cortex and epilepsy.

Guerrini R.

Epilepsia. 2005;46 Suppl 1:32-7. Review.

5.

[Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing].

Bahi-Buisson N, Boddaert N, Saillour Y, Souville I, Poirier K, Léger PL, Castelnau L, Plouin P, Carion N, Beldjord C, Chelly J.

Rev Neurol (Paris). 2008 Dec;164(12):995-1009. doi: 10.1016/j.neurol.2008.04.006. Epub 2008 Jun 9. Review. French.

PMID:
18808783
6.

Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.

Guerrini R, Carrozzo R.

Seizure. 2002 Apr;11 Suppl A:532-43; quiz 544-7. Review.

PMID:
12185771
7.

Epilepsy and genetic malformations of the cerebral cortex.

Guerrini R, Carrozzo R.

Am J Med Genet. 2001 Summer;106(2):160-73. Review.

PMID:
11579436
8.
9.

Epilepsy and malformations of the cerebral cortex.

Guerrini R, Sicca F, Parmeggiani L.

Epileptic Disord. 2003 Sep;5 Suppl 2:S9-26. Review.

PMID:
14617417
10.

Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.

D'Agostino MD, Bernasconi A, Das S, Bastos A, Valerio RM, Palmini A, Costa da Costa J, Scheffer IE, Berkovic S, Guerrini R, Dravet C, Ono J, Gigli G, Federico A, Booth F, Bernardi B, Volpi L, Tassinari CA, Guggenheim MA, Ledbetter DH, Gleeson JG, Lopes-Cendes I, Vossler DG, Malaspina E, Franzoni E, Sartori RJ, Mitchell MH, Mercho S, Dubeau F, Andermann F, Dobyns WB, Andermann E.

Brain. 2002 Nov;125(Pt 11):2507-22.

PMID:
12390976
11.

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.

Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, Veggiotti P, Marini C, Brilstra EH, Dalla Bernardina B, Goodwin L, Bodell A, Jones MC, Nangeroni M, Palmeri S, Said E, Sander JW, Striano P, Takahashi Y, Van Maldergem L, Leonardi G, Wright M, Walsh CA, Guerrini R.

Brain. 2006 Jul;129(Pt 7):1892-906. Epub 2006 May 9.

PMID:
16684786
12.

Genetic Basis of Brain Malformations.

Parrini E, Conti V, Dobyns WB, Guerrini R.

Mol Syndromol. 2016 Sep;7(4):220-233. Epub 2016 Aug 27. Review.

13.

Neuronal migration disorders.

Guerrini R, Parrini E.

Neurobiol Dis. 2010 May;38(2):154-66. doi: 10.1016/j.nbd.2009.02.008. Epub 2009 Feb 23. Review.

PMID:
19245832
14.

Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.

Pilz DT, Kuc J, Matsumoto N, Bodurtha J, Bernadi B, Tassinari CA, Dobyns WB, Ledbetter DH.

Hum Mol Genet. 1999 Sep;8(9):1757-60.

PMID:
10441340
15.

Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.

Sicca F, Kelemen A, Genton P, Das S, Mei D, Moro F, Dobyns WB, Guerrini R.

Neurology. 2003 Oct 28;61(8):1042-6.

PMID:
14581661
16.

[Genetic and clinical aspects of lissencephaly].

Verloes A, Elmaleh M, Gonzales M, Laquerrière A, Gressens P.

Rev Neurol (Paris). 2007 May;163(5):533-47. Review. French.

PMID:
17571022
17.

Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities.

Mandelstam SA, Leventer RJ, Sandow A, McGillivray G, van Kogelenberg M, Guerrini R, Robertson S, Berkovic SF, Jackson GD, Scheffer IE.

AJNR Am J Neuroradiol. 2013 Feb;34(2):432-8. doi: 10.3174/ajnr.A3427. Epub 2013 Jan 24.

18.

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

Bahi-Buisson N, Poirier K, Fourniol F, Saillour Y, Valence S, Lebrun N, Hully M, Bianco CF, Boddaert N, Elie C, Lascelles K, Souville I; LIS-Tubulinopathies Consortium, Beldjord C, Chelly J.

Brain. 2014 Jun;137(Pt 6):1676-700. doi: 10.1093/brain/awu082.

PMID:
24860126
19.

DCX-Related Disorders.

Hehr U, Uyanik G, Aigner L, Couillard-Despres S, Winkler J.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2007 Oct 19 [updated 2011 Mar 24].

20.

Malformations of cortical development and epilepsy, part 1: diagnosis and classification scheme.

Kuzniecky RI.

Rev Neurol Dis. 2006 Fall;3(4):151-62. Review.

PMID:
17224898

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