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Items: 1 to 20 of 23

1.

Brain imaging in Kufs disease type B: case reports.

Di Fabio R, Colonnese C, Santorelli FM, Pestillo L, Pierelli F.

BMC Neurol. 2015 Jul 4;15:102. doi: 10.1186/s12883-015-0357-6.

2.

Increased Expression of the Large Conductance, Calcium-Activated K+ (BK) Channel in Adult-Onset Neuronal Ceroid Lipofuscinosis.

Donnelier J, Braun ST, Dolzhanskaya N, Ahrendt E, Braun AP, Velinov M, Braun JE.

PLoS One. 2015 Apr 23;10(4):e0125205. doi: 10.1371/journal.pone.0125205.

3.

Lysosomal integral membrane protein type-2 (LIMP-2/SCARB2) is a substrate of cathepsin-F, a cysteine protease mutated in type-B-Kufs-disease.

Peters J, Rittger A, Weisner R, Knabbe J, Zunke F, Rothaug M, Damme M, Berkovic SF, Blanz J, Saftig P, Schwake M.

Biochem Biophys Res Commun. 2015 Feb 13;457(3):334-40. doi: 10.1016/j.bbrc.2014.12.111.

PMID:
25576872
4.

Pseudo-dominant inheritance of a novel CTSF mutation associated with type B Kufs disease.

Di Fabio R, Moro F, Pestillo L, Meschini MC, Pezzini F, Doccini S, Casali C, Pierelli F, Simonati A, Santorelli FM.

Neurology. 2014 Nov 4;83(19):1769-70. doi: 10.1212/WNL.0000000000000953. No abstract available.

PMID:
25274848
5.

Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation.

Canafoglia L, Morbin M, Scaioli V, Pareyson D, D'Incerti L, Fugnanesi V, Tagliavini F, Berkovic SF, Franceschetti S.

Epilepsia. 2014 Jun;55(6):e56-9. doi: 10.1111/epi.12632.

6.

Clinical, ultrastructural, and molecular studies in a patient with Kufs disease.

Moro F, Gismondi F, Pezzini F, Santorelli FM, Simonati A.

Neurol Sci. 2014 Apr;35(4):605-7. doi: 10.1007/s10072-013-1587-2. No abstract available.

PMID:
24277206
7.

A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

Dolzhanskaya N, Gonzalez MA, Sperziani F, Stefl S, Messing J, Wen GY, Alexov E, Zuchner S, Velinov M.

J Alzheimers Dis. 2014;39(1):23-7. doi: 10.3233/JAD-131340.

8.

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.

9.

A rare dementing disease: adult neuronal ceroid lipofuscinoses.

Babacan-Yildiz G, Hanagasi H, Gurvit H, Sirin G, Solakoglu S, Kucuk OS.

J Neuropsychiatry Clin Neurosci. 2012 Fall;24(4):493-8. doi: 10.1176/appi.neuropsych.11080182.

PMID:
23224458
10.

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.

Clin Genet. 2013 Jun;83(6):571-5. doi: 10.1111/cge.12020.

PMID:
22978711
11.

A clinical approach to early-onset inheritable dementia.

Rogers BS, Lippa CF.

Am J Alzheimers Dis Other Demen. 2012 May;27(3):154-61. doi: 10.1177/1533317512444000. Review.

PMID:
22573281
12.

Usefulness of rectal biopsy for the diagnosis of Kufs disease: a controlled study and review of the literature.

Ferlazzo E, Gasparini S, Pasquinelli G, Labate A, Gambardella A, Sofia V, Cianci V, Branca D, Quattrone A, Aguglia U.

Eur J Neurol. 2012 Oct;19(10):1331-6. doi: 10.1111/j.1468-1331.2012.03748.x. Review.

PMID:
22568672
13.

Low-frequency photoparoxysmal response in adults: an early clue to diagnosis.

Guellerin J, Hamelin S, Sabourdy C, Vercueil L.

J Clin Neurophysiol. 2012 Apr;29(2):160-4. doi: 10.1097/WNP.0b013e31824d949f.

PMID:
22469682
14.

Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.

Velinov M, Dolzhanskaya N, Gonzalez M, Powell E, Konidari I, Hulme W, Staropoli JF, Xin W, Wen GY, Barone R, Coppel SH, Sims K, Brown WT, Züchner S.

PLoS One. 2012;7(1):e29729. doi: 10.1371/journal.pone.0029729. Erratum in: PLoS One. 2012;7(9). doi:10.1371/annotation/26d7eb64-ccd2-41db-b1aa-7cdc8c1eff95.

15.

Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.

Benitez BA, Alvarado D, Cai Y, Mayo K, Chakraverty S, Norton J, Morris JC, Sands MS, Goate A, Cruchaga C.

PLoS One. 2011;6(11):e26741. doi: 10.1371/journal.pone.0026741.

16.

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.

Am J Hum Genet. 2011 May 13;88(5):566-73. doi: 10.1016/j.ajhg.2011.04.004.

17.

A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers.

Farias FH, Zeng R, Johnson GS, Wininger FA, Taylor JF, Schnabel RD, McKay SD, Sanders DN, Lohi H, Seppälä EH, Wade CM, Lindblad-Toh K, O'Brien DP, Katz ML.

Neurobiol Dis. 2011 Jun;42(3):468-74. doi: 10.1016/j.nbd.2011.02.009.

PMID:
21362476
18.

EEG and granular osmiophilic elements in early-onset Alzheimer's disease.

Alberici A, Borroni B, Bonato C, Agosti C, Avanzi S, Santorelli FM, Simonati A, Padovani A.

Neurodegener Dis. 2011;8(4):259-61. doi: 10.1159/000322539.

PMID:
21212640
19.

A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis.

Abitbol M, Thibaud JL, Olby NJ, Hitte C, Puech JP, Maurer M, Pilot-Storck F, Hédan B, Dréano S, Brahimi S, Delattre D, André C, Gray F, Delisle F, Caillaud C, Bernex F, Panthier JJ, Aubin-Houzelstein G, Blot S, Tiret L.

Proc Natl Acad Sci U S A. 2010 Aug 17;107(33):14775-80. doi: 10.1073/pnas.0914206107.

20.

Kufs' disease: diagnostic difficulties in the examination of extracerebral biopsies.

Lewandowska E, Lipczyńska-Łojkowska W, Modzelewska J, Wierzba-Bobrowicz T, Mierzewska H, Szpak GM, Passenik E, Jachińska K.

Folia Neuropathol. 2009;47(3):259-67.

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