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.
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.
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.
Adult type of neuronal ceroid lipofuscinosis.
Martin JJ.
Dev Neurosci. 1991;13(4-5):331-8. doi: 10.1159/000112182.
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.
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.
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.
Diagnostic (clinical and morphological) criteria for adult neuronal ceroid-lipofuscinosis (Kufs' disease), Hopital de la Salpetriere 'AFM Institut de Myologie', Paris, France, 5 December 1996.
Ruchoux MM, Goebel HH.
Neuropathol Appl Neurobiol. 1997 Jun;23(3):262-3. doi: 10.1111/j.1365-2990.1997.tb01210.x.
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.
Adult neuronal ceroid-lipofuscinosis--personal observations.
Martin JJ, Ceuterick C.
Acta Neurol Belg. 1997 Jun;97(2):85-92.
