Results 81 to 90 of about 174,337,571 (166)

Metabolic heterogeneity in different subtypes of malformations of cortical development causing epilepsy: a proton magnetic resonance spectroscopy study. [PDF]

Quant Imaging Med Surg, 2023
Pu H, Wang L, Liu W, Tan Q, Wan X, Wang W, Su X, Sun H, Zhang S, Yue Q, Gong Q.   +10 more
europepmc   +1 more source

Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development. [PDF]

Nat Genet, 2023
Chung C, Yang X, Bae T, Vong KI, Mittal S, Donkels C, Westley Phillips H, Li Z, Marsh APL, Breuss MW, Ball LL, Garcia CAB, George RD, Gu J, Xu M, Barrows C, James KN, Stanley V, Nidhiry AS, Khoury S, Howe G, Riley E, Xu X, Copeland B, Wang Y, Kim SH, Kang HC, Schulze-Bonhage A, Haas CA, Urbach H, Prinz M, Limbrick DD, Gurnett CA, Smyth MD, Sattar S, Nespeca M, Gonda DD, Imai K, Takahashi Y, Chen HH, Tsai JW, Conti V, Guerrini R, Devinsky O, Silva WA, Machado HR, Mathern GW, Abyzov A, Baldassari S, Baulac S, Focal Cortical Dysplasia Neurogenetics Consortium, Brain Somatic Mosaicism Network, Gleeson JG.   +52 more
europepmc   +1 more source

Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development

, 2015
One set of missense mutations in the neuron specific beta tubulin isotype 3 (TUBB3) has been reported to cause malformations of cortical development (MCD), while a second set has been reported to cause isolated or syndromic Congenital Fibrosis of the ...
Andrews C., Nuovo Sara, Whitman Mary C, Chan W. -M., Andrews Caroline, Ortiz-Gonzalez X., Tischfield M. A., Mackinnon S. E., Hunter David G, Engle E. C., Chan Wai-Man, Brancati Francesco, Mackinnon Sarah E, Grant P. E., Stasheff S. F., Brancati F., Garaci F., Hunter D. G., Grant P Ellen, Engle Elizabeth C, Nuovo S., Garaci Francesco, Ortiz-Gonzalez Xilma, Tischfield Max A, Stasheff Steven F, Whitman M. C.   +25 more
core   +1 more source

Congenital cytomegalovirus infections and malformations of cortical development

, 1998
Malformations of cortical development(MCD) are due to a disorder of one of three fondamental events of cortical formation: proliferation, migration and organzation of cells during embryonal development of the cortex. Different causes and etiopathogenetic
F. Triulzi, S. Binda, C. Zucca, L. Radice, R. Borgatti, C. Butte, M. Barbi   +6 more
core   +1 more source

Case report: Genotype and phenotype of DYNC1H1-related malformations of cortical development: a case report and literature review. [PDF]

Front Neurol, 2023
Ge WR, Fu PP, Zhang WN, Zhang B, Ding YX, Yang G.   +5 more
europepmc   +1 more source

Roots of the Malformations of Cortical Development in the Cell Biology of Neural Progenitor Cells. [PDF]

Front Neurosci, 2021
Ossola C, Kalebic N.
europepmc   +1 more source

DNA methylation-based classification of malformations of cortical development in the human brain. [PDF]

Acta Neuropathol, 2022
Jabari S, Kobow K, Pieper T, Hartlieb T, Kudernatsch M, Polster T, Bien CG, Kalbhenn T, Simon M, Hamer H, Rössler K, Feucht M, Mühlebner A, Najm I, Peixoto-Santos JE, Gil-Nagel A, Delgado RT, Aledo-Serrano A, Hou Y, Coras R, von Deimling A, Blümcke I.   +21 more
europepmc   +1 more source

Neuropathology of genetically defined malformations of cortical development-A systematic literature review. [PDF]

Neuropathol Appl Neurobiol, 2021
Brock S, Cools F, Jansen AC.
europepmc   +1 more source

Research progress on pathology of intractable epilepsy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2014
With increased surgical operation samples of intractable epilepsy, there are sufficient cases for neuropathological study. Some new studies and consensus on classification of malformations of cortical development or hippocampal sclerosis were proposed
Yue-shan PIAO, De-hong LU
doaj  

Malformations of Cortical Development, Cognitive Involvementand Epilepsy: A Single Institution Experience in 19 Young Patients. [PDF]

Children (Basel), 2021
Venti V, Consentino MC, Smilari P, Greco F, Oliva CF, Fiumara A, Falsaperla R, Ruggieri M, Pavone P.   +8 more
europepmc   +1 more source