376 related articles for article (PubMed ID: 27581084)
1. Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C.
Koens LH; Kuiper A; Coenen MA; Elting JW; de Vries JJ; Engelen M; Koelman JH; van Spronsen FJ; Spikman JM; de Koning TJ; Tijssen MA
Orphanet J Rare Dis; 2016 Sep; 11(1):121. PubMed ID: 27581084
[TBL] [Abstract][Full Text] [Related]
2. Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.
Nadjar Y; Hütter-Moncada AL; Latour P; Ayrignac X; Kaphan E; Tranchant C; Cintas P; Degardin A; Goizet C; Laurencin C; Martzolff L; Tilikete C; Anheim M; Audoin B; Deramecourt V; De Gaillarbois TD; Roze E; Lamari F; Vanier MT; Héron B
Orphanet J Rare Dis; 2018 Oct; 13(1):175. PubMed ID: 30285904
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 16755579
[TBL] [Abstract][Full Text] [Related]
4. Niemann-Pick type C: focus on the adolescent/adult onset form.
Di Lazzaro V; Marano M; Florio L; De Santis S
Int J Neurosci; 2016 Nov; 126(11):963-71. PubMed ID: 26998855
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 26910362
[TBL] [Abstract][Full Text] [Related]
6. Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C.
Wijburg FA; Sedel F; Pineda M; Hendriksz CJ; Fahey M; Walterfang M; Patterson MC; Wraith JE; Kolb SA
Neurology; 2012 May; 78(20):1560-7. PubMed ID: 22517094
[TBL] [Abstract][Full Text] [Related]
7. Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages.
Mengel E; Pineda M; Hendriksz CJ; Walterfang M; Torres JV; Kolb SA
Mol Genet Metab; 2017 Mar; 120(3):180-189. PubMed ID: 27993458
[TBL] [Abstract][Full Text] [Related]
8. Niemann-Pick type C: a potentially treatable disorder?
Kheder A; Scott C; Olpin S; Hadjivassiliou M
Pract Neurol; 2013 Dec; 13(6):382-5. PubMed ID: 23906593
[TBL] [Abstract][Full Text] [Related]
9. [Adult onset Niemann-Pick type C disease and psychosis: literature review].
Maubert A; Hanon C; Metton JP
Encephale; 2013 Oct; 39(5):315-9. PubMed ID: 23928063
[TBL] [Abstract][Full Text] [Related]
10. Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.
Abela L; Plecko B; Palla A; Burda P; Nuoffer JM; Ballhausen D; Rohrbach M
Orphanet J Rare Dis; 2014 Nov; 9():176. PubMed ID: 25425405
[TBL] [Abstract][Full Text] [Related]
11. Spectrum of Movement Disorders in Niemann-Pick Disease Type C.
Devaraj R; Mahale RR; Sindhu DM; Stezin A; Kamble N; Holla VV; Netravathi M; Yadav R; Pal PK
Tremor Other Hyperkinet Mov (N Y); 2022; 12():28. PubMed ID: 36187872
[TBL] [Abstract][Full Text] [Related]
12. Niemann-Pick disease type C symptomatology: an expert-based clinical description.
Mengel E; Klünemann HH; Lourenço CM; Hendriksz CJ; Sedel F; Walterfang M; Kolb SA
Orphanet J Rare Dis; 2013 Oct; 8():166. PubMed ID: 24135395
[TBL] [Abstract][Full Text] [Related]
13. Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations.
Rubboli G; Franceschetti S; Berkovic SF; Canafoglia L; Gambardella A; Dibbens LM; Riguzzi P; Campieri C; Magaudda A; Tassinari CA; Michelucci R
Epilepsia; 2011 Dec; 52(12):2356-63. PubMed ID: 22050460
[TBL] [Abstract][Full Text] [Related]
14. Identifying Niemann-Pick type C in early-onset ataxia: two quick clinical screening tools.
Synofzik M; Fleszar Z; Schöls L; Just J; Bauer P; Torres Martin JV; Kolb S
J Neurol; 2016 Oct; 263(10):1911-8. PubMed ID: 27314965
[TBL] [Abstract][Full Text] [Related]
15. Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: trunk tremor, myoclonus, and dystonia.
Foncke EM; Beukers RJ; Tijssen CC; Koelman JH; Tijssen MA
Parkinsonism Relat Disord; 2010 May; 16(4):288-9. PubMed ID: 19913450
[TBL] [Abstract][Full Text] [Related]
16. Supranuclear Palsy as an Initial Presentation of the Adult-Onset Niemann-Pick Type C.
Mohamed AA; Gan W; Babici D; Hagan V; Wald R; Swerdloff M
Neurol Int; 2024 May; 16(3):561-566. PubMed ID: 38804481
[TBL] [Abstract][Full Text] [Related]
17. Phenotypic features of myoclonus-dystonia in three kindreds.
Doheny DO; Brin MF; Morrison CE; Smith CJ; Walker RH; Abbasi S; Müller B; Garrels J; Liu L; De Carvalho Aguiar P; Schilling K; Kramer P; De Leon D; Raymond D; Saunders-Pullman R; Klein C; Bressman SB; Schmand B; Tijssen MA; Ozelius LJ; Silverman JM
Neurology; 2002 Oct; 59(8):1187-96. PubMed ID: 12391346
[TBL] [Abstract][Full Text] [Related]
18. Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database.
Imrie J; Heptinstall L; Knight S; Strong K
BMC Neurol; 2015 Dec; 15():257. PubMed ID: 26666848
[TBL] [Abstract][Full Text] [Related]
19. The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.
Hendriksz CJ; Anheim M; Bauer P; Bonnot O; Chakrapani A; Corvol JC; de Koning TJ; Degtyareva A; Dionisi-Vici C; Doss S; Duning T; Giunti P; Iodice R; Johnston T; Kelly D; Klünemann HH; Lorenzl S; Padovani A; Pocovi M; Synofzik M; Terblanche A; Then Bergh F; Topçu M; Tranchant C; Walterfang M; Velten C; Kolb SA
Curr Med Res Opin; 2017 May; 33(5):877-890. PubMed ID: 28276873
[TBL] [Abstract][Full Text] [Related]
20. Visceral symptoms as a key diagnostic sign for the early infantile form of Niemann-Pick disease type C in a Russian patient: a case report.
Degtyareva AV; Mikhailova SV; Zakharova EY; Tumanova EL; Puchkova AA
J Med Case Rep; 2016 Jun; 10(1):143. PubMed ID: 27250337
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]