Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2004 | 1 |
2010 | 1 |
2015 | 1 |
2016 | 1 |
2022 | 1 |
2024 | 0 |
Search Results
4 results
Results by year
Filters applied: . Clear all
Page 1
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
Am J Hum Genet. 2022 Nov 3;109(11):2068-2079. doi: 10.1016/j.ajhg.2022.09.012. Epub 2022 Oct 24.
Am J Hum Genet. 2022.
PMID: 36283405
Free PMC article.
The neuroradiological phenotype comprises a highly recognizable combination of classic lissencephaly with a posterior more severe than anterior gradient similar to PAFAH1B1(LIS1)-related lissencephaly and severe hypoplasia or absence of the corpus callosum; dysplasi …
The neuroradiological phenotype comprises a highly recognizable combination of classic lissencephaly with a posterior more sev …
Lissencephalic syndromes: brain and beyond.
Pavone L, Corsello G, Pavone P, Iannetti P.
Pavone L, et al.
Front Biosci (Schol Ed). 2010 Jan 1;2(1):85-95. doi: 10.2741/s47.
Front Biosci (Schol Ed). 2010.
PMID: 20036930
Free article.
Review.
Lissencephaly has been long maintained a malformation involving only the brain. Classic lissencephaly includes agyria and pachygyria and it is the most severe form of malformations derived from abnormal neuronal migration. ...It encompasses a group of syndromes whic …
Lissencephaly has been long maintained a malformation involving only the brain. Classic lissencephaly includes agyria and pach …
Item in Clipboard
LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs.
Herbst SM, Proepper CR, Geis T, Borggraefe I, Hahn A, Debus O, Haeussler M, von Gersdorff G, Kurlemann G, Ensslen M, Beaud N, Budde J, Gilbert M, Heiming R, Morgner R, Philippi H, Ross S, Strobl-Wildemann G, Muelleder K, Vosschulte P, Morris-Rosendahl DJ, Schuierer G, Hehr U.
Herbst SM, et al.
Brain Dev. 2016 Apr;38(4):399-406. doi: 10.1016/j.braindev.2015.10.001. Epub 2015 Oct 19.
Brain Dev. 2016.
PMID: 26494205
BACKGROUND: Patients with LIS1-associated classic lissencephaly typically present with severe psychomotor retardation and drug-resistant epilepsy within the first year. AIM: To analyze the epileptogenic phenotype and response to antiepileptic therapy in LIS1-associa …
BACKGROUND: Patients with LIS1-associated classic lissencephaly typically present with severe psychomotor retardation and drug …
Item in Clipboard
Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia.
Torres FR, Montenegro MA, Marques-De-Faria AP, Guerreiro MM, Cendes F, Lopes-Cendes I.
Torres FR, et al.
Neurology. 2004 Mar 9;62(5):799-802. doi: 10.1212/01.wnl.0000113725.46254.fd.
Neurology. 2004.
PMID: 15007136
The authors describe clinical, neuroimaging and molecular findings in a group of 15 patients with classic lissencephaly (LIS) and subcortical band heterotopia (SBH). ...
The authors describe clinical, neuroimaging and molecular findings in a group of 15 patients with classic lissencephaly (LIS) …
Item in Clipboard
Cite
Cite