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244 results

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Page 1
Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.
Cadieux-Dion M, Andermann E, Lachance-Touchette P, Ansorge O, Meloche C, Barnabé A, Kuzniecky RI, Andermann F, Faught E, Leonberg S, Damiano JA, Berkovic SF, Rouleau GA, Cossette P. Cadieux-Dion M, et al. Among authors: andermann e, andermann f. Clin Genet. 2013 Jun;83(6):571-5. doi: 10.1111/cge.12020. Epub 2012 Nov 7. Clin Genet. 2013. PMID: 22978711
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. Jedličková I, et al. Among authors: andermann e. Eur J Hum Genet. 2020 Jun;28(6):783-789. doi: 10.1038/s41431-019-0567-2. Epub 2020 Jan 9. Eur J Hum Genet. 2020. PMID: 31919451 Free PMC article.
Kufs disease: clinical features and forms.
Berkovic SF, Andermann F, Andermann E, Carpenter S, Wolfe L. Berkovic SF, et al. Among authors: andermann e, andermann f. Am J Med Genet Suppl. 1988;5:105-9. doi: 10.1002/ajmg.1320310614. Am J Med Genet Suppl. 1988. PMID: 3146309 Review.
The Newfoundland aggregate of neuronal ceroid-lipofuscinosis.
Andermann E, Jacob JC, Andermann F, Carpenter S, Wolfe L, Berkovic SF. Andermann E, et al. Among authors: andermann f. Am J Med Genet Suppl. 1988;5:111-6. doi: 10.1002/ajmg.1320310615. Am J Med Genet Suppl. 1988. PMID: 3146310
Kufs' disease: a critical reappraisal.
Berkovic SF, Carpenter S, Andermann F, Andermann E, Wolfe LS. Berkovic SF, et al. Among authors: andermann e, andermann f. Brain. 1988 Feb;111 ( Pt 1):27-62. doi: 10.1093/brain/111.1.27. Brain. 1988. PMID: 3284607 Review.
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, Andermann E, Vears DF, Cossette P, Rajagopalan S, McDougall A, Sofia V, Farrell M, Aguglia U, Zini A, Meletti S, Morbin M, Mullen S, Andermann F, Mole SE, Bahlo M, Berkovic SF. Arsov T, et al. Among authors: andermann e, andermann f. Am J Hum Genet. 2011 May 13;88(5):566-73. doi: 10.1016/j.ajhg.2011.04.004. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549341 Free PMC article.
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. Smith KR, et al. Among authors: andermann e, andermann f. Hum Mol Genet. 2013 Apr 1;22(7):1417-23. doi: 10.1093/hmg/dds558. Epub 2013 Jan 7. Hum Mol Genet. 2013. PMID: 23297359 Free PMC article.
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
Berkovic SF, Oliver KL, Canafoglia L, Krieger P, Damiano JA, Hildebrand MS, Morbin M, Vears DF, Sofia V, Giuliano L, Garavaglia B, Simonati A, Santorelli FM, Gambardella A, Labate A, Belcastro V, Castellotti B, Ozkara C, Zeman A, Rankin J, Mole SE, Aguglia U, Farrell M, Rajagopalan S, McDougall A, Brammah S, Andermann F, Andermann E, Dahl HM, Franceschetti S, Carpenter S. Berkovic SF, et al. Among authors: andermann e, andermann f. Brain. 2019 Jan 1;142(1):59-69. doi: 10.1093/brain/awy297. Brain. 2019. PMID: 30561534
244 results