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neuronal ceroid lipofuscmosis, Kufs,s disease相关文献:
The Neuronal Ceroid Lipofuscinoses.
Mole SE.
In: Noebels JL, Avoli M, Rogawski MA, Vezzani A, Delgado-Escueta AV, editors. Jasper's Basic Mechanisms of the Epilepsies. 5th edition. New York: Oxford University Press; 2024. Chapter 50.
PMID:39637217
Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis.
Naseri N, Sharma M, Velinov M.
Clin Genet. 2021 Jan;99(1):111-118. doi: 10.1111/cge.13829. Epub 2020 Aug 26.
PMID:32783189
Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).
Berkovic SF, Staropoli JF, Carpenter S, Oliver KL, Kmoch S, Anderson GW, Damiano JA, Hildebrand MS, Sims KB, Cotman SL, Bahlo M, Smith KR, Cadieux-Dion M, Cossette P, Jedličková I, Přistoupilová A, Mole SE; ANCL Gene Discovery Consortium.
Neurology. 2016 Aug 9;87(6):579-84. doi: 10.1212/WNL.0000000000002943. Epub 2016 Jul 13.
PMID:27412140
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.
Smith KR, Dahl HH, Canafoglia L, Andermann E, Damiano J, Morbin M, Bruni AC, Giaccone G, Cossette P, Saftig P, Grötzinger J, Schwake M, Andermann F, Staropoli JF, Sims KB, Mole SE, Franceschetti S, Alexander NA, Cooper JD, Chapman HA, Carpenter S, Berkovic SF, Bahlo M.
Hum Mol Genet. 2013 Apr 1;22(7):1417-23. doi: 10.1093/hmg/dds558. Epub 2013 Jan 7.
PMID:23297359
Adult type of neuronal ceroid lipofuscinosis.
Martin JJ.
Dev Neurosci. 1991;13(4-5):331-8. doi: 10.1159/000112182.
PMID:1817040
A man with epilepsy, bradykinesia, and cognitive decline.
Liu Z, Zheng W, Xiao F.
Neurol Sci. 2022 Aug;43(8):5161-5163. doi: 10.1007/s10072-022-06089-6. Epub 2022 Apr 28.
PMID:35482158
Lysosomal storage in human skeletal muscle.
Carpenter S, Karpati G.
Hum Pathol. 1986 Jul;17(7):683-703. doi: 10.1016/s0046-8177(86)80179-4.
PMID:3087857
Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD.
van der Zee J, Mariën P, Crols R, Van Mossevelde S, Dillen L, Perrone F, Engelborghs S, Verhoeven J, D'aes T, Ceuterick-De Groote C, Sieben A, Versijpt J, Cras P, Martin JJ, Van Broeckhoven C.
Neurol Genet. 2016 Sep 16;2(5):e102. doi: 10.1212/NXG.0000000000000102. eCollection 2016 Oct.
PMID:27668283
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing.
Jedličková I, Cadieux-Dion M, Přistoupilová A, Stránecký V, Hartmannová H, Hodaňová K, Barešová V, Hůlková H, Sikora J, Nosková L, Mušálková D, Vyleťal P, Sovová J, Cossette P, Andermann E, Andermann F, Kmoch S; Adult NCL Gene Discovery Consortium.
Eur J Hum Genet. 2020 Jun;28(6):783-789. doi: 10.1038/s41431-019-0567-2. Epub 2020 Jan 9.
PMID:31919451
Kufs' disease: a critical reappraisal.
Berkovic SF, Carpenter S, Andermann F, Andermann E, Wolfe LS.
Brain. 1988 Feb;111 ( Pt 1):27-62. doi: 10.1093/brain/111.1.27.
PMID:3284607
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