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

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

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182 results

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Page 1
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R; ATP1A2/A3-collaborators. Vetro A, et al. Brain. 2021 Jun 22;144(5):1435-1450. doi: 10.1093/brain/awab052. Brain. 2021. PMID: 33880529
A distinctive, 'profound' phenotype, featuring polymicrogyria or progressive brain atrophy and epilepsy, resulted in early lethality in seven patients (32%). In silico evaluation predicted all mutations to be detrimental. We tested 14 mutations in transfected COS-1 cells a …
A distinctive, 'profound' phenotype, featuring polymicrogyria or progressive brain atrophy and epilepsy, resulted in early lethality in seve …
A journey through formation and malformations of the neo-cortex.
Reghunath A, Ghasi RG. Reghunath A, et al. Childs Nerv Syst. 2020 Jan;36(1):27-38. doi: 10.1007/s00381-019-04429-0. Epub 2019 Nov 27. Childs Nerv Syst. 2020. PMID: 31776716 Review.
CONCLUSION: Knowledge of the wide imaging spectrum of MCD, familiarity with recent advances in imaging and an optimal radiological approach is essential for the general radiologist to accurately diagnose and prognosticate MCD as well as provide the best surgical approach t …
CONCLUSION: Knowledge of the wide imaging spectrum of MCD, familiarity with recent advances in imaging and an optimal radiological approach …
Sulcal pits and patterns in developing human brains.
Im K, Grant PE. Im K, et al. Neuroimage. 2019 Jan 15;185:881-890. doi: 10.1016/j.neuroimage.2018.03.057. Epub 2018 Mar 27. Neuroimage. 2019. PMID: 29601953 Free PMC article. Review.
Future studies will be aimed at better understanding a comprehensive map of spatio-temporal dynamics of fetal cortical folding in a large longitudinal cohort in order to examine individual clinical fetal MRIs and predict postnatal neurodevelopmental outcomes from early fet …
Future studies will be aimed at better understanding a comprehensive map of spatio-temporal dynamics of fetal cortical folding in a large lo …
Physical aspects of cortical folding.
Greiner A, Kaessmair S, Budday S. Greiner A, et al. Soft Matter. 2021 Feb 15;17(5):1210-1222. doi: 10.1039/d0sm02209h. Soft Matter. 2021. PMID: 33480902
The gel specimens possess a two-layered structure accounting for gray and white matter tissue and yield complex surface morphologies that well resemble patterns in the human brain. The results are in good agreement with analytical predictions. Through the variation of cort …
The gel specimens possess a two-layered structure accounting for gray and white matter tissue and yield complex surface morphologies that we …
The agyria-pachygyria complex: a spectrum of cortical malformations.
Aicardi J. Aicardi J. Brain Dev. 1991;13(1):1-8. doi: 10.1016/s0387-7604(12)80289-0. Brain Dev. 1991. PMID: 2063992 Review.
Therefore, a precise analysis of each case is necessary to establish the prognosis and risk of recurrence....
Therefore, a precise analysis of each case is necessary to establish the prognosis and risk of recurrence....
A practical approach to prenatal diagnosis of malformations of cortical development.
Lerman-Sagie T, Pogledic I, Leibovitz Z, Malinger G. Lerman-Sagie T, et al. Eur J Paediatr Neurol. 2021 Sep;34:50-61. doi: 10.1016/j.ejpn.2021.08.001. Epub 2021 Aug 3. Eur J Paediatr Neurol. 2021. PMID: 34390998 Review.
In some instances, no further studies are required during pregnancy due to the clear dire prognosis and then the genetic evaluation can be deferred after delivery or termination of pregnancy (in countries where allowed)....
In some instances, no further studies are required during pregnancy due to the clear dire prognosis and then the genetic evaluation c …
Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia.
Shelkowitz E, Stence NV, Neuberger I, Park KL, Saenz MS, Pao E, Oyama N, Friedman SD, Shaw DWW, Mirzaa GM. Shelkowitz E, et al. Pediatr Neurol. 2023 Oct;147:154-162. doi: 10.1016/j.pediatrneurol.2023.06.015. Epub 2023 Jun 22. Pediatr Neurol. 2023. PMID: 37619436
Only recently has PTEN been associated with cortical malformations, and analyses of their prognostic significance have been limited. METHODS: Retrospective neuroimaging analysis and detailed chart review were conducted on 20 participants identified with pathogenic or likel …
Only recently has PTEN been associated with cortical malformations, and analyses of their prognostic significance have been limited. …
The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS.
Bartolini E, Falchi M, Zellini F, Parrini E, Grisotto L, Cosottini M, Posar A, Parmeggiani A, Ambrosetto G, Ferrari AR, Santucci M, Salas-Puig J, Barba C, Guerrini R. Bartolini E, et al. Neurology. 2016 Mar 29;86(13):1250-9. doi: 10.1212/WNL.0000000000002526. Epub 2016 Mar 4. Neurology. 2016. PMID: 26944271
Receiver operator characteristic analysis of the power of volumetric values was determined to predict CSWS. RESULTS: CSWS peaked between 5 and 7 years (mean age at onset 4.7 years). ...Early assessment of hemispheric and thalamic volumes in children with polymicrogyria and …
Receiver operator characteristic analysis of the power of volumetric values was determined to predict CSWS. RESULTS: CSWS peaked betw …
Fetal Brain Magnetic Resonance Imaging Findings In Congenital Cytomegalovirus Infection With Postnatal Imaging Correlation.
Averill LW, Kandula VV, Akyol Y, Epelman M. Averill LW, et al. Semin Ultrasound CT MR. 2015 Dec;36(6):476-86. doi: 10.1053/j.sult.2015.04.001. Epub 2015 Apr 3. Semin Ultrasound CT MR. 2015. PMID: 26614131 Review.
A combination of anterior temporal lobe abnormalities, white matter lesions, and polymicrogyria is especially predictive. Fetal MRI may provide a unique opportunity to detect anterior temporal cysts and occipital horn septations, as dilation of these areas may decrease lat …
A combination of anterior temporal lobe abnormalities, white matter lesions, and polymicrogyria is especially predictive. Fetal MRI m …
Schizencephaly: correlation of clinical findings with MR characteristics.
Barkovich AJ, Kjos BO. Barkovich AJ, et al. AJNR Am J Neuroradiol. 1992 Jan-Feb;13(1):85-94. AJNR Am J Neuroradiol. 1992. PMID: 1595498 Free PMC article. Review.
Patients with small unilateral schizencephalies have a good developmental prognosis, particularly when the motor cortex is not involved....
Patients with small unilateral schizencephalies have a good developmental prognosis, particularly when the motor cortex is not involv …
182 results