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Items: 18

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.

[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
3.

[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. Review. French.

PMID:
23928063
4.

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
5.

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. Review.

PMID:
22810120
6.

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. Review.

PMID:
17003072
7.

Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.

Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F; NP-C Guidelines Working Group..

Mol Genet Metab. 2012 Jul;106(3):330-44. doi: 10.1016/j.ymgme.2012.03.012.

PMID:
22572546
8.

[Niemann-Pick disease type C].

Akaboshi S, Ohno K.

Nihon Rinsho. 1995 Dec;53(12):3036-40. Review. Japanese.

PMID:
8577055
9.

[Clinical diagnosis of the adult form of Niemann-Pick type C disease].

Sedel F.

Arch Pediatr. 2010 Jun;17 Suppl 2:S50-3. doi: 10.1016/S0929-693X(10)70012-9. Review. French.

PMID:
20620896
10.

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 17;8:166. doi: 10.1186/1750-1172-8-166. Review.

11.

[Niemann-Pick C disease: history, current research topics, biological and molecular diagnosis].

Vanier MT.

Arch Pediatr. 2010 Jun;17 Suppl 2:S41-4. doi: 10.1016/S0929-693X(10)70010-5. Review. French.

PMID:
20620894
12.

Treatable metabolic psychoses that go undetected: what Niemann-Pick type C can teach us.

Klünemann HH, Santosh PJ, Sedel F.

Int J Psychiatry Clin Pract. 2012 Sep;16(3):162-9. doi: 10.3109/13651501.2012.687451. Review.

PMID:
22746831
13.

Niemann-pick disease type C: implications for sedation and anesthesia for diagnostic procedures.

Miao N, Lu X, O'Grady NP, Yanjanin N, Porter FD, Quezado ZM.

J Child Neurol. 2012 Dec;27(12):1541-6. doi: 10.1177/0883073812437243. Review.

14.

Psychosis as the initial manifestation of adult-onset Niemann-Pick disease type C.

Shulman LM, David NJ, Weiner WJ.

Neurology. 1995 Sep;45(9):1739-43. Review.

PMID:
7675237
15.

[Therapies in the Niemann-Pick type C disease].

Chabrol B.

Arch Pediatr. 2010 Jun;17 Suppl 2:S54-7. doi: 10.1016/S0929-693X(10)70013-0. Review. French.

PMID:
20620897
16.

Niemann-Pick Disease Type C: from molecule to clinic.

Tang Y, Li H, Liu JP.

Clin Exp Pharmacol Physiol. 2010 Jan;37(1):132-40. doi: 10.1111/j.1440-1681.2009.05235.x. Review.

PMID:
19566836
17.

[Diagnosis of adult type of Niemann-Pick disease (type C) in two brothers by filipin staining of bone marrow smears].

Wakida K, Matsuyama Z, Suzuki Y, Sawada M, Tsurumi H, Kimura A, Hayashi Y, Hashizume T, Hozumi I, Inuzuka T.

No To Shinkei. 2004 Dec;56(12):1047-53. Review. Japanese.

PMID:
15729883
18.

[Advances in elucidating the pathophysiology and targeting therapy to treat Niemann-Pick type C disease].

Ohno K.

No To Hattatsu. 2010 Mar;42(2):92-102. Review. Japanese. No abstract available.

PMID:
23858590
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