Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1978 1
1979 1
1983 1
1984 1
1985 1
1987 3
1988 2
1989 3
1990 4
1991 4
1992 4
1993 3
1994 7
1995 2
1996 3
1997 1
1998 3
1999 2
2000 5
2001 7
2002 6
2003 6
2004 7
2005 4
2006 8
2007 8
2008 9
2009 11
2010 9
2011 14
2012 12
2013 12
2014 10
2015 10
2016 10
2017 11
2018 15
2019 9
2020 13
2021 8
2022 8
2023 7
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

232 results

Results by year

Filters applied: . Clear all
Page 1
Tubulin mutations in human neurodevelopmental disorders.
Maillard C, Roux CJ, Charbit-Henrion F, Steffann J, Laquerriere A, Quazza F, Buisson NB. Maillard C, et al. Semin Cell Dev Biol. 2023 Mar 15;137:87-95. doi: 10.1016/j.semcdb.2022.07.009. Epub 2022 Jul 30. Semin Cell Dev Biol. 2023. PMID: 35915025 Review.
Key imaging features of tubulinopathies are characterized by three major patterns of malformations of cortical development (MCD): lissencephaly, microlissencephaly, and dysgyria. Additional distinctive MRI features include dysmorphism of the basal ganglia, midline commissu …
Key imaging features of tubulinopathies are characterized by three major patterns of malformations of cortical development (MCD): lissenc …
Tubulinopathies.
Gonçalves FG, Freddi TAL, Taranath A, Lakshmanan R, Goetti R, Feltrin FS, Mankad K, Teixeira SR, Hanagandi PB, Arrigoni F. Gonçalves FG, et al. Top Magn Reson Imaging. 2018 Dec;27(6):395-408. doi: 10.1097/RMR.0000000000000188. Top Magn Reson Imaging. 2018. PMID: 30516692 Review.
Somewhat consistent morphological imaging patterns have been described in tubulinopathies such as dysmorphic basal ganglia-the hallmark (found in 75% of cases), callosal dysgenesis, cerebellar hypoplasia/dysplasia, and cortical malformations, most notably lissencephaly. Re …
Somewhat consistent morphological imaging patterns have been described in tubulinopathies such as dysmorphic basal ganglia-the hallmark (fou …
Neuronal Migration Disorders.
Roberts B. Roberts B. Radiol Technol. 2018 Jan;89(3):279-295. Radiol Technol. 2018. PMID: 29298944 Review.
Magnetic resonance imaging plays a primary role in the diagnosis and classification of neuronal migration disorders. These disorders include polymicrogyria, schizencephaly, lissencephaly, heterotopia, and focal cortical dysplasia. Imaging protocols continue to evolve to pr …
Magnetic resonance imaging plays a primary role in the diagnosis and classification of neuronal migration disorders. These disorders include …
Congenital muscular dystrophies.
Kirschner J. Kirschner J. Handb Clin Neurol. 2013;113:1377-85. doi: 10.1016/B978-0-444-59565-2.00008-3. Handb Clin Neurol. 2013. PMID: 23622361 Review.
The latter group is often associated with neuronal migration defects including lissencephaly, pachygyria, cerebellar and brainstem abnormalities, and variable ocular anomalies. ...
The latter group is often associated with neuronal migration defects including lissencephaly, pachygyria, cerebellar and brainstem ab …
Neuronal migration disorders.
Guerrini R, Parrini E. Guerrini R, et al. Neurobiol Dis. 2010 May;38(2):154-66. doi: 10.1016/j.nbd.2009.02.008. Epub 2009 Feb 23. Neurobiol Dis. 2010. PMID: 19245832 Review.
Lissencephaly-pachygyria-severe band heterotopia are diffuse neuronal migration disorders (NMDs) causing severe, global neurological impairment. ...
Lissencephaly-pachygyria-severe band heterotopia are diffuse neuronal migration disorders (NMDs) causing severe, global neurological …
Genetics and biology of microcephaly and lissencephaly.
Mochida GH. Mochida GH. Semin Pediatr Neurol. 2009 Sep;16(3):120-6. doi: 10.1016/j.spen.2009.07.001. Semin Pediatr Neurol. 2009. PMID: 19778709 Free PMC article. Review.
Genetic microcephaly and lissencephaly are 2 of the most common brain malformations. Each of them is a heterogeneous group of disorders caused by mutations of many different genes. ...Functional studies of genes that cause microcephaly and lissencephaly have provide …
Genetic microcephaly and lissencephaly are 2 of the most common brain malformations. Each of them is a heterogeneous group of disorde …
Zika and the Eye: Pieces of a Puzzle.
de Oliveira Dias JR, Ventura CV, de Paula Freitas B, Prazeres J, Ventura LO, Bravo-Filho V, Aleman T, Ko AI, Zin A, Belfort R Jr, Maia M; Zika Virus Study Group. de Oliveira Dias JR, et al. Prog Retin Eye Res. 2018 Sep;66:85-106. doi: 10.1016/j.preteyeres.2018.04.004. Epub 2018 Apr 24. Prog Retin Eye Res. 2018. PMID: 29698814 Review.
Brain abnormalities in CZS include cerebral calcifications, malformations of cortical development, ventriculomegaly, lissencephaly, hypoplasia of the cerebellum and brainstem. The ocular findings, which are present in up to 70% of infants with CZS, include iris coloboma, l …
Brain abnormalities in CZS include cerebral calcifications, malformations of cortical development, ventriculomegaly, lissencephaly, h …
Genetics and mechanisms leading to human cortical malformations.
Romero DM, Bahi-Buisson N, Francis F. Romero DM, et al. Semin Cell Dev Biol. 2018 Apr;76:33-75. doi: 10.1016/j.semcdb.2017.09.031. Epub 2017 Oct 11. Semin Cell Dev Biol. 2018. PMID: 28951247 Review.
We have focused on providing updated views related to perturbed mechanisms based on the wealth of genetic information currently available, as well as the study of mutant genes in animal models. We discuss mainly type 1 lissencephaly, periventricular heterotopia, type II …
We have focused on providing updated views related to perturbed mechanisms based on the wealth of genetic information currently available, a …
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
Khalaf-Nazzal R, Fasham J, Inskeep KA, Blizzard LE, Leslie JS, Wakeling MN, Ubeyratna N, Mitani T, Griffith JL, Baker W, Al-Hijawi F, Keough KC, Gezdirici A, Pena L, Spaeth CG, Turnpenny PD, Walsh JR, Ray R, Neilson A, Kouranova E, Cui X, Curiel DT, Pehlivan D, Akdemir ZC, Posey JE, Lupski JR, Dobyns WB, Stottmann RW, Crosby AH, Baple EL. Khalaf-Nazzal R, et al. 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 severe tha …
232 results