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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: carpenter s. Brain. 2019 Jan 1;142(1):59-69. doi: 10.1093/brain/awy297. Brain. 2019. PMID: 30561534
Kufs' disease: a critical reappraisal.
Berkovic SF, Carpenter S, Andermann F, Andermann E, Wolfe LS. Berkovic SF, et al. Among authors: carpenter s. Brain. 1988 Feb;111 ( Pt 1):27-62. doi: 10.1093/brain/111.1.27. Brain. 1988. PMID: 3284607 Review.
Mitochondrial dysfunction in multiple symmetrical lipomatosis.
Berkovic SF, Andermann F, Shoubridge EA, Carpenter S, Robitaille Y, Andermann E, Melmed C, Karpati G. Berkovic SF, et al. Among authors: carpenter s. Ann Neurol. 1991 May;29(5):566-9. doi: 10.1002/ana.410290519. Ann Neurol. 1991. PMID: 1650162
1,140 results