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Items: 1 to 20 of 122

1.

Teaching video neuroimages: gelastic cataplexy as the first neurologic manifestation of Niemann-Pick disease type C.

Pedroso JL, Fusão EF, Ladeia-Frota C, Arita JH, Barsottini OG, Masruha MR, Vilanova LC.

Neurology. 2012 Nov 27;79(22):e189. doi: 10.1212/WNL.0b013e31827597bf.

PMID:
23183285
2.

Pseudocataplexy: gelastic-atonic seizures.

Jacome DE, Risko M.

Neurology. 1984 Oct;34(10):1381-3.

PMID:
6541315
3.

Cataplexy leading to the diagnosis of Niemann-Pick disease type C.

Smit LS, Lammers GJ, Catsman-Berrevoets CE.

Pediatr Neurol. 2006 Jul;35(1):82-4.

PMID:
16814094
4.

Treatment of cataplexy in Niemann-Pick disease type C with the use of miglustat.

Zarowski M, Steinborn B, Gurda B, Dvorakova L, Vlaskova H, Kothare SV.

Eur J Paediatr Neurol. 2011 Jan;15(1):84-7. doi: 10.1016/j.ejpn.2010.02.001. Epub 2010 Mar 6.

PMID:
20207562
5.

Successful treatment of cataplexy in patients with early-infantile Niemann-Pick disease type C: use of tricyclic antidepressants.

Cak HT, Haliloğlu G, Düzgün G, Yüce A, Topçu M.

Eur J Paediatr Neurol. 2014 Nov;18(6):811-5. doi: 10.1016/j.ejpn.2014.07.009. Epub 2014 Aug 6.

PMID:
25139345
6.

Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C.

Xiong H, Higaki K, Wei CJ, Bao XH, Zhang YH, Fu N, Qin J, Adachi K, Kumura Y, Ninomiya H, Nanba E, Wu XR.

Gene. 2012 May 1;498(2):332-5. doi: 10.1016/j.gene.2012.01.026. Epub 2012 Feb 4.

PMID:
22326530
7.

[Niemann-Pick type C disease: clinical presentations in pediatric patients].

Héron B, Ogier H.

Arch Pediatr. 2010 Jun;17 Suppl 2:S45-9. doi: 10.1016/S0929-693X(10)70011-7. Review. French.

PMID:
20620895
8.

[Adult onset Niemann-Pick type C disease and psychosis: literature review].

Maubert A, Hanon C, Metton JP.

Encephale. 2013 Oct;39(5):315-9. doi: 10.1016/j.encep.2013.04.013. Epub 2013 Aug 5. Review. French.

PMID:
23928063
9.

[Cataplexy in type C Niemann-Pick disease].

Boor R, Reitter B.

Klin Padiatr. 1997 Mar-Apr;209(2):88-90. German.

PMID:
9198675
10.

Niemann-Pick disease type C: analysis of 7 patients.

Xiong H, Bao XH, Zhang YH, Xu YN, Qin J, Shi HP, Wu XR.

World J Pediatr. 2012 Feb;8(1):61-6. doi: 10.1007/s12519-011-0284-6. Epub 2011 Jun 1.

PMID:
21633862
11.

Gelastic cataplexy in Niemann-Pick disease group C and related variants without generalized sphingomyelinase deficiency.

Philippart M, Engel J Jr, Zimmerman EG.

Ann Neurol. 1983 Oct;14(4):492-3. No abstract available.

PMID:
6314876
12.

Treatment of a child diagnosed with Niemann-Pick disease type C with miglustat: a case report in Brazil.

Santos ML, Raskin S, Telles DS, Löhr A Jr, Liberalesso PB, Vieira SC, Cordeiro ML.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S357-61. doi: 10.1007/s10545-008-0923-9. Epub 2008 Oct 21.

PMID:
18937049
13.

Cataplexy and sleep disorders in Niemann-Pick type C disease.

Nevsimalova S, Malinova V.

Curr Neurol Neurosci Rep. 2015 Jan;15(1):522. doi: 10.1007/s11910-014-0522-0. Review.

PMID:
25434476
14.

Niemann-Pick type C disease associated with peripheral neuropathy.

Zafeiriou DI, Triantafyllou P, Gombakis NP, Vargiami E, Tsantali C, Michelakaki E.

Pediatr Neurol. 2003 Sep;29(3):242-4.

PMID:
14629910
15.

Vertical supranuclear gaze palsy in Niemann-Pick type C disease.

Salsano E, Umeh C, Rufa A, Pareyson D, Zee DS.

Neurol Sci. 2012 Dec;33(6):1225-32. doi: 10.1007/s10072-012-1155-1. Epub 2012 Jul 19. Review.

PMID:
22810120
16.

The adult form of Niemann-Pick disease type C.

Sévin M, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, Sedel F.

Brain. 2007 Jan;130(Pt 1):120-33. Epub 2006 Sep 26. Review.

PMID:
17003072
17.

A 15-year-old with drop attacks and unsteadiness while descending stairs.

Ji T, Kotagal S.

Semin Pediatr Neurol. 2008 Dec;15(4):174-7. doi: 10.1016/j.spen.2008.10.007.

PMID:
19073322
18.

Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C.

Chamova T, Kirov A, Guergueltcheva V, Todorov T, Bojinova V, Zhelyazkova S, Samuel J, Radionova M, Sarafov S, Cherninkova S, Krastev S, Todorova A, Tournev I.

Eur Neurol. 2016;75(3-4):113-23. doi: 10.1159/000444480. Epub 2016 Feb 25.

PMID:
26910362
19.

Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease.

Anheim M, Lagha-Boukbiza O, Fleury-Lesaunier MC, Valenti-Hirsch MP, Hirsch E, Gervais-Bernard H, Broussolle E, Thobois S, Vanier MT, Latour P, Tranchant C.

J Neurol. 2014 Jan;261(1):174-9. doi: 10.1007/s00415-013-7159-9. Epub 2013 Nov 1.

PMID:
24178705
20.

Rhythmic cortical myoclonus in Niemann-Pick disease type C.

Canafoglia L, Bugiani M, Uziel G, Dalla Bernardina B, Ciano C, Scaioli V, Avanzini G, Franceschetti S, Panzica F.

Mov Disord. 2006 Sep;21(9):1453-6.

PMID:
16755579

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