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congenital brain atrophy相关文献:
Normal Pressure Hydrocephalus.
Graff-Radford NR, Jones DT.
Continuum (Minneap Minn). 2019 Feb;25(1):165-186. doi: 10.1212/CON.0000000000000689.
PMID:30707192
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
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.
PMID:38301864
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki MS, Ferla M, Tortora D, Sadeghian S, Saadi SM, Abdullah U, Karimiani EG, Efthymiou S, Yeşil G, Alavi S, Al Shamsi AM, Tajsharghi H, Abdel-Hamid MS, Saadi NW, Al Mutairi F, Alabdi L, Beetz C, Ali Z, Toosi MB, Rudnik-Schöneborn S, Babaei M, Isohanni P, Muhammad J, Khan S, Al Shalan M, Hickey SE, Marom D, Elhanan E, Kurian MA, Marafi D, Saberi A, Hamid M, Spaull R, Meng L, Lalani S, Maqbool S, Rahman F, Seeger J, Palculict TB, Lau T, Murphy D, Mencacci NE, Steindl K, Begemann A, Rauch A, Akbas S, Aslanger AD, Salpietro V, Yousaf H, Ben-Shachar S, Ejeskär K, Al Aqeel AI, High FA, Armstrong-Javors AE, Zahraei SM, Seifi T, Zeighami J, Shariati G, Sedaghat A, Asl SN, Shahrooei M, Zifarelli G, Burglen L, Ravelli C, Zschocke J, Schatz UA, Ghavideldarestani M, Kamel WA, Van Esch H, Hackenberg A, Taylor JC, Al-Gazali L, Bauer P, Gleeson JJ, Alkuraya FS, Lupski JR, Galehdari H, Azizimalamiri R, Chung WK, Baig SM, Houlden H, Severino M.
Brain. 2023 Dec 1;146(12):5031-5043. doi: 10.1093/brain/awad257.
PMID:37517035
[Cerebellar hypoplasias].
Safronova MM, Barbot C, Resende Pereira J.
Acta Med Port. 2010 Sep-Oct;23(5):841-52. Epub 2010 Oct 22.
PMID:21144325
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.
PMID:35351787
[Congenital Myasthenic Syndromes].
Ohno K.
Brain Nerve. 2024 Jan;76(1):41-45. doi: 10.11477/mf.1416202556.
PMID:38191138
Congenital Adrenal Hyperplasia and Brain Health: A Systematic Review of Structural, Functional, and Diffusion Magnetic Resonance Imaging (MRI) Investigations.
Khalifeh N, Omary A, Cotter DL, Kim MS, Geffner ME, Herting MM.
J Child Neurol. 2022 Aug;37(8-9):758-783. doi: 10.1177/08830738221100886. Epub 2022 Jun 23.
PMID:35746874
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
[Cerebellar atrophies].
Zuber M, Lamy C, de Recondo J.
Rev Prat. 1990 May 1;40(13):1186-92.
PMID:2343250
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