Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications.
Cabal-Herrera AM, Tassanakijpanich N, Salcedo-Arellano MJ, Hagerman RJ.
Int J Mol Sci. 2020 Jun 20;21(12):4391. doi: 10.3390/ijms21124391.
PMID:32575683
Neuroinflammation, blood-brain barrier dysfunction, hippocampal atrophy and delayed neurodevelopment: Contributions for a rat model of congenital Zika syndrome.
Dos Santos AS, da Costa MG, Faustino AM, de Almeida W, Danilevicz CK, Peres AM, de Castro Saturnino BC, Varela APM, Teixeira TF, Roehe PM, Krolow R, Dalmaz C, Pereira LO.
Exp Neurol. 2024 Apr;374:114699. doi: 10.1016/j.expneurol.2024.114699. Epub 2024 Jan 30.
A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy.
Bezen D, Kutlu O, Mouilleron S, Rizzoti K, Dattani M, Guran T, Yeşil G.
Am J Med Genet A. 2022 Sep;188(9):2701-2706. doi: 10.1002/ajmg.a.62888. Epub 2022 Jul 6.
PMID:35792517
Neu Laxova syndrome.
Dwivedi T, Gosavi M.
Indian J Pathol Microbiol. 2019 Jan-Mar;62(1):149-152. doi: 10.4103/IJPM.IJPM_351_17.
PMID:30706883
Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutieres syndrome.
Crow YJ, Massey RF, Innes JR, Pairaudeau PW, Rowland Hill CA, Woods CG, Ali M, Livingston JH, Lebon P, Nischall K, McEntagart M, Hindocha N, Winter RM.
Am J Med Genet A. 2004 Sep 1;129A(3):303-7. doi: 10.1002/ajmg.a.30250.
PMID:15326633
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.
Wortmann SB, Ziętkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW, Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T, Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, Golzio C, Jansen JH, van Karnebeek C, Lillquist Y, Lücke T, Õunap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink JN, Vaz FM, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen MA, de Brouwer AP, Prokisch H, Katsanis N, Wevers RA.
Am J Hum Genet. 2015 Feb 5;96(2):245-57. doi: 10.1016/j.ajhg.2014.12.013. Epub 2015 Jan 15.
PMID:25597510
Clinico-radiological approach to cerebral hemiatrophy.
Tan AP, Wong YLJ, Lin BJ, Yong HRC, Mankad K.
Childs Nerv Syst. 2018 Dec;34(12):2377-2390. doi: 10.1007/s00381-018-3934-3. Epub 2018 Aug 6.
PMID:30083798
Teaching Video NeuroImage: Congenital Hemidystonia-Hemi-midbrain Atrophy Syndrome.
Pillai KS, Thakre M, Asole D, Venkitachalam A, Sundar U, Sankhe AP, Joshi AR, Firke VP.
Neurology. 2022 May 17;98(20):860-861. doi: 10.1212/WNL.0000000000200513. Epub 2022 Mar 29.