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infantile progressive cerebral degeneration相关文献:
The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention.
Bryant D, Pauzuolyte V, Ingham NJ, Patel A, Pagarkar W, Anderson LA, Smith KE, Moulding DA, Leong YC, Jafree DJ, Long DA, Al-Yassin A, Steel KP, Jagger DJ, Forge A, Berger W, Sowden JC, Bitner-Glindzicz M.
JCI Insight. 2022 Feb 8;7(3):e148586. doi: 10.1172/jci.insight.148586.
PMID:35132964
Infantile diffuse cerebral degeneration with hepatic cirrhosis.
Huttenlocher PR, Solitare GB, Adams G.
Arch Neurol. 1976 Mar;33(3):186-92. doi: 10.1001/archneur.1976.00500030042009.
PMID:1252162
X-linked olivopontocerebellar atrophy.
Lutz R, Bodensteiner J, Schaefer B, Gay C.
Clin Genet. 1989 Jun;35(6):417-22. doi: 10.1111/j.1399-0004.1989.tb02966.x.
PMID:2661059
Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected.
Montillot C, Skutunova E, Ayushma, Dubied M, Lahmar A, Nguyen S, Peerally B, Prin F, Duffourd Y, Thauvin-Robinet C, Duplomb L, Wang H, Ansar M, Faivre L, Navarro N, Minocha S, Collins SC, Yalcin B.
Neurobiol Dis. 2023 Sep;185:106259. doi: 10.1016/j.nbd.2023.106259. Epub 2023 Aug 12.
PMID:37573958
Spinal Muscular Atrophy, X-Linked Infantile.
Baumbach-Reardon L, Hunter JM, Ahearn ME, Pfautsch M.
2008 Oct 30 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:20301739
Mouse models of NADK2 deficiency analyzed for metabolic and gene expression changes to elucidate pathophysiology.
Murray GC, Bais P, Hatton CL, Tadenev ALD, Hoffmann BR, Stodola TJ, Morelli KH, Pratt SL, Schroeder D, Doty R, Fiehn O, John SWM, Bult CJ, Cox GA, Burgess RW.
Hum Mol Genet. 2022 Nov 28;31(23):4055-4074. doi: 10.1093/hmg/ddac151.
PMID:35796562
Infantile onset progressive cerebellar atrophy and anterior horn cell Degeneration-A novel phenotype associated with mutations in the PLA2G6 gene.
Gafner M, Michelson M, Yosovich K, Blumkin L, Lerman-Sagie T, Lev D.
Eur J Med Genet. 2020 Apr;63(4):103801. doi: 10.1016/j.ejmg.2019.103801. Epub 2019 Nov 2.
PMID:31689548
Delineating the phenotype of PNPLA8-related mitochondriopathies.
Abdel-Hamid MS, Abdel-Salam GMH, Abdel-Ghafar SF, Zaki MS.
Clin Genet. 2024 Jan;105(1):92-98. doi: 10.1111/cge.14421. Epub 2023 Sep 6.
PMID:37671596
Neuroaxonal dystrophy in PLA2G6 knockout mice.
Sumi-Akamaru H, Beck G, Kato S, Mochizuki H.
Neuropathology. 2015 Jun;35(3):289-302. doi: 10.1111/neup.12202. Epub 2015 May 6.
PMID:25950622
MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy.
Vodopiutz J, Schmook MT, Konstantopoulou V, Plecko B, Greber-Platzer S, Creus M, Seidl R, Janecke AR.
Eur J Pediatr. 2015 Jan;174(1):113-8. doi: 10.1007/s00431-014-2463-7. Epub 2014 Dec 3.
PMID:25446406
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