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2006 4
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2010 2
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33 results

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Page 1
Diagnostic work-up in malformations of cortical development.
Rijckmans E, Stouffs K, Jansen AC. Rijckmans E, et al. Dev Med Child Neurol. 2024 Aug;66(8):974-989. doi: 10.1111/dmcn.15882. Epub 2024 Feb 23. Dev Med Child Neurol. 2024. PMID: 38394064 Review.
Different subtypes have been defined, including lissencephaly, heterotopia, cobblestone malformation, polymicrogyria, and dysgyria. Many MCDs are of genetic origin, although acquired factors, such as congenital cytomegalovirus infections and twinning sequence, can lead to …
Different subtypes have been defined, including lissencephaly, heterotopia, cobblestone malformation, polymicrogyria, and dysgyria. M …
The role of vagus nerve stimulation in genetic etiologies of drug-resistant epilepsy: a meta-analysis.
Hajtovic S, LoPresti MA, Zhang L, Katlowitz KA, Kizek DJ, Lam S. Hajtovic S, et al. J Neurosurg Pediatr. 2022 Mar 18;29(6):667-680. doi: 10.3171/2022.1.PEDS222. Print 2022 Jun 1. J Neurosurg Pediatr. 2022. PMID: 35303699 Review.
In TSC patients, the pooled (95% CI) seizure freedom rate was 40% (12%-71%), 90% seizure reduction rate was 31% (8%-56%), and 50% reduction rate was 68% (48%-91%). Regarding the secondary outcomes of VNS in TSC patients, several studies reported decreased seizure severity …
In TSC patients, the pooled (95% CI) seizure freedom rate was 40% (12%-71%), 90% seizure reduction rate was 31% (8%-56%), and 50% red …
Neuropathology of genetically defined malformations of cortical development-A systematic literature review.
Brock S, Cools F, Jansen AC. Brock S, et al. Neuropathol Appl Neurobiol. 2021 Aug;47(5):585-602. doi: 10.1111/nan.12696. Epub 2021 Feb 14. Neuropathol Appl Neurobiol. 2021. PMID: 33480109 Free PMC article.
RESULTS: Eighty-one studies were included in this review reporting neuropathological features associated with pathogenic variants in 46 genes (46/132 genes, 34.8%). Four groups emerged, consisting of (1) 13 genes with well-defined histological-genotype correlations, (2) 27 …
RESULTS: Eighty-one studies were included in this review reporting neuropathological features associated with pathogenic variants in 46 gene …
The dystrophin-glycoprotein complex in brain development and disease.
Waite A, Brown SC, Blake DJ. Waite A, et al. Trends Neurosci. 2012 Aug;35(8):487-96. doi: 10.1016/j.tins.2012.04.004. Epub 2012 May 23. Trends Neurosci. 2012. PMID: 22626542 Review.
During development, defects in the glycosylation of alpha-dystroglycan that impair its ability to interact with the extracellular matrix (ECM) are frequently associated with cobblestone lissencephaly and mental retardation. Furthermore, mutations in the gene encoding e-sar …
During development, defects in the glycosylation of alpha-dystroglycan that impair its ability to interact with the extracellular matrix (EC …
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
Denommé-Pichon AS, Collins SC, Bruel AL, Mikhaleva A, Wagner C, Vancollie VE, Thomas Q, Chevarin M, Weber M, Prada CE, Overs A, Palomares-Bralo M, Santos-Simarro F, Pacio-Míguez M, Busa T, Legius E, Bacino CA, Rosenfeld JA, Le Guyader G, Egloff M, Le Guillou X, Mencarelli MA, Renieri A, Grosso S, Levy J, Dozières B, Desguerre I, Vitobello A, Duffourd Y, Lelliott CJ, Thauvin-Robinet C, Philippe C, Faivre L, Yalcin B. Denommé-Pichon AS, et al. Genet Med. 2023 Jul;25(7):100835. doi: 10.1016/j.gim.2023.100835. Epub 2023 Mar 28. Genet Med. 2023. PMID: 36999555 Free article. Review.
Although deletion of PAFAH1B1 causes lissencephaly unambiguously, deletion of YWHAE alone has not clearly been linked to a human disorder. ...RESULTS: We report a series of 10 individuals with heterozygous loss-of-function YWHAE variants (3 single-nucleotide variants and 7 …
Although deletion of PAFAH1B1 causes lissencephaly unambiguously, deletion of YWHAE alone has not clearly been linked to a human diso …
[Features of the neuroradiological picture of ganglioglioma on the example of 20 clinical cases].
Khalilov VS, Kholin AA, Gazdieva KS, Kislyakov AN, Zavadenko NN. Khalilov VS, et al. Zh Nevrol Psikhiatr Im S S Korsakova. 2020;120(11):90-98. doi: 10.17116/jnevro202012011190. Zh Nevrol Psikhiatr Im S S Korsakova. 2020. PMID: 33340303 Review. Russian.
Two patients had a double pathology (cases of tumors combination with lissencephaly and neuronal heterotopia) and another had a composite neuronal-glial tumor. ...In 2 cases, it was not possible to confirm the presence of neoplasm by radiological methods, and in 1 patient, …
Two patients had a double pathology (cases of tumors combination with lissencephaly and neuronal heterotopia) and another had a compo …
Role of human fetal ependyma.
Sarnat HB. Sarnat HB. Pediatr Neurol. 1992 May-Jun;8(3):163-78. doi: 10.1016/0887-8994(92)90063-5. Pediatr Neurol. 1992. PMID: 1622511 Review.
An abnormal fetal ependyma may play a primary role in the pathogenesis of some cerebral malformations, such as lissencephaly/pachygyria and holoprosencephaly....
An abnormal fetal ependyma may play a primary role in the pathogenesis of some cerebral malformations, such as lissencephaly/pachygyr …
Reelin: Diverse roles in central nervous system development, health and disease.
Armstrong NC, Anderson RC, McDermott KW. Armstrong NC, et al. Int J Biochem Cell Biol. 2019 Jul;112:72-75. doi: 10.1016/j.biocel.2019.04.009. Epub 2019 Apr 22. Int J Biochem Cell Biol. 2019. PMID: 31022460 Review.
Abnormalities in the RELN gene can result in multiple unusual structural outcomes including disruption of cortical layers, heterotopia, polymicrogyria and lissencephaly. Recent research has suggested a potential role for Reelin in the pathogenesis of neurological diseases …
Abnormalities in the RELN gene can result in multiple unusual structural outcomes including disruption of cortical layers, heterotopia, poly …
Lissencephaly: mechanistic insights from animal models and potential therapeutic strategies.
Wynshaw-Boris A, Pramparo T, Youn YH, Hirotsune S. Wynshaw-Boris A, et al. Semin Cell Dev Biol. 2010 Oct;21(8):823-30. doi: 10.1016/j.semcdb.2010.07.008. Epub 2010 Aug 3. Semin Cell Dev Biol. 2010. PMID: 20688183 Free PMC article. Review.
Lissencephaly is a severe human neuronal migration defect characterized by a smooth cerebral surface, mental retardation and seizures. The two most common genes mutated in patients with lissencephaly are LIS1 and DCX. LIS1 was the first gene cloned that was importan
Lissencephaly is a severe human neuronal migration defect characterized by a smooth cerebral surface, mental retardation and seizures
Protein-Protein and Peptide-Protein Interactions of NudE-Like 1 (Ndel1): A Protein Involved in Schizophrenia.
Hayashi MA, Felicori LF, Fresqui MA, Yonamine CM. Hayashi MA, et al. Curr Protein Pept Sci. 2015;16(8):754-67. doi: 10.2174/1389203716666150505225251. Curr Protein Pept Sci. 2015. PMID: 25961396 Review.
Although impaired lissencephaly protein Lis1 complex formation with Ndel1 is the leading cause of lissencephaly, this binding does not affect Ndel1 oligopeptidase activity. ...Moreover, Ndel1 seems to be the key protein underlying two seemingly unrelated diseases wi …
Although impaired lissencephaly protein Lis1 complex formation with Ndel1 is the leading cause of lissencephaly, this binding …
33 results