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Items: 1 to 20 of 22

1.

[Prenatal diagnosis of fetal gray matter heteropia in one case and literature review].

Zhagn K, Li S, Wen H, Yuan Y.

Nan Fang Yi Ke Da Xue Xue Bao. 2015 Dec;35(12):1770-4. Review. Chinese.

PMID:
26714914
2.

Common genetic and epigenetic syndromes.

Adams DJ, Clark DA.

Pediatr Clin North Am. 2015 Apr;62(2):411-26. doi: 10.1016/j.pcl.2014.11.005. Review.

PMID:
25836705
3.

Chromosome therapy. Correction of large chromosomal aberrations by inducing ring chromosomes in induced pluripotent stem cells (iPSCs).

Kim T, Bershteyn M, Wynshaw-Boris A.

Nucleus. 2014 Sep-Oct;5(5):391-5. doi: 10.4161/nucl.36300. Review.

4.

Mimics and chameleons in Guillain-Barré and Miller Fisher syndromes.

Wakerley BR, Yuki N.

Pract Neurol. 2015 Apr;15(2):90-9. doi: 10.1136/practneurol-2014-000937. Review.

PMID:
25239628
5.

Mutations in cytoplasmic dynein and its regulators cause malformations of cortical development and neurodegenerative diseases.

Lipka J, Kuijpers M, Jaworski J, Hoogenraad CC.

Biochem Soc Trans. 2013 Dec;41(6):1605-12. doi: 10.1042/BST20130188. Review.

PMID:
24256262
6.

Chromosome 17p13.3 deletion syndrome: aCGH characterization, prenatal findings and diagnosis, and literature review.

Chen CP, Chang TY, Guo WY, Wu PC, Wang LK, Chern SR, Wu PS, Su JW, Chen YT, Chen LF, Wang W.

Gene. 2013 Dec 10;532(1):152-9. doi: 10.1016/j.gene.2013.09.044. Review.

PMID:
24055730
7.

Somatic mutation, genomic variation, and neurological disease.

Poduri A, Evrony GD, Cai X, Walsh CA.

Science. 2013 Jul 5;341(6141):1237758. doi: 10.1126/science.1237758. Review.

8.

Cytoskeleton in action: lissencephaly, a neuronal migration disorder.

Moon HM, Wynshaw-Boris A.

Wiley Interdiscip Rev Dev Biol. 2013 Mar-Apr;2(2):229-45. Review.

9.

Complex single gene disorders and epilepsy.

Merwick A, O'Brien M, Delanty N.

Epilepsia. 2012 Sep;53 Suppl 4:81-91. doi: 10.1111/j.1528-1167.2012.03617.x. Review.

10.

Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly.

Friocourt G, Marcorelles P, Saugier-Veber P, Quille ML, Marret S, Laquerrière A.

Acta Neuropathol. 2011 Feb;121(2):149-70. doi: 10.1007/s00401-010-0768-9. Review.

11.

Lissencephaly: mechanistic insights from animal models and potential therapeutic strategies.

Wynshaw-Boris A, Pramparo T, Youn YH, Hirotsune S.

Semin Cell Dev Biol. 2010 Oct;21(8):823-30. doi: 10.1016/j.semcdb.2010.07.008. Review.

12.

The doublecortin gene family and disorders of neuronal structure.

Dijkmans TF, van Hooijdonk LW, Fitzsimons CP, Vreugdenhil E.

Cent Nerv Syst Agents Med Chem. 2010 Mar;10(1):32-46. Review.

PMID:
20236041
13.

Regulators of the cytoplasmic dynein motor.

Kardon JR, Vale RD.

Nat Rev Mol Cell Biol. 2009 Dec;10(12):854-65. doi: 10.1038/nrm2804. Review.

14.

Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain.

Andrade DM.

Hum Genet. 2009 Jul;126(1):173-93. doi: 10.1007/s00439-009-0702-1. Review.

PMID:
19536565
15.

[ARX--one gene--many phenotypes].

Lisik M, Sieroń AL.

Neurol Neurochir Pol. 2008 Jul-Aug;42(4):338-44. Review. Polish.

PMID:
18975239
16.

[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. Review. French.

PMID:
18808783
17.

[Molecular mechanism of lissencephaly--how LIS1 and NDEL1 regulate cytoplasmic dynein?].

Hirotsune S.

Brain Nerve. 2008 Apr;60(4):375-81. Review. Japanese.

PMID:
18421979
18.

Ictal/interictal EEG patterns and functional neuroimaging findings in subcortical band heterotopia: report of three cases and review of the literature.

Dericioglu N, Oguz KK, Ergun EL, Tezer FI, Saygi S.

Clin EEG Neurosci. 2008 Jan;39(1):43-9. Review.

PMID:
18318419
19.

Functional genomics in postmortem human brain: abnormalities in a DISC1 molecular pathway in schizophrenia.

Lipska BK, Mitkus SN, Mathew SV, Fatula R, Hyde TM, Weinberger DR, Kleinman JE.

Dialogues Clin Neurosci. 2006;8(3):353-7. Review.

20.
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