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.
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.
Normal Pressure Hydrocephalus.
Graff-Radford NR, Jones DT.
Continuum (Minneap Minn). 2019 Feb;25(1):165-186. doi: 10.1212/CON.0000000000000689.
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.
[Congenital Myasthenic Syndromes].
Ohno K.
Brain Nerve. 2024 Jan;76(1):41-45. doi: 10.11477/mf.1416202556.
Brain atrophy with intracranial calcification following congenital HIV infection.
Tovo PA, Gabiano C, Favro-Paris S, Palomba E, Gajno G.
Acta Paediatr Scand. 1988 Sep;77(5):776-9. doi: 10.1111/j.1651-2227.1988.tb10752.x.
Congenital spongy degeneration of the brain (van Bogaert - Bertrand) associated with micrencephaly and ponto - cerebellar atrophy (contributions to the pathology of glial dystrophy of intrauterin origin).
Vuia O.
Neuropadiatrie. 1977 Feb;8(1):73-87. doi: 10.1055/s-0028-1091507.
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.
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.
