Publications:

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Adult-onset Niemann-Pick disease type C masquerading as spinocerebellar ataxia.

Molecular Genetics & Genomic Medicine

Vo, Mary L ML; Levy, Tess T; Lakhani, Shenela S; Wang, Chengbing C; Ross, M Elizabeth ME

Publication Date: 2022-04

Variant appearance in text: NPC1: Arg934Ter

PubMed Link: 35192242

Variant Present in the following documents:

• Main text
• MGG3-10-e1906.pdf

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Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.

International Journal Of Molecular Sciences

Seker Yilmaz, Berna B; Baruteau, Julien J; Rahim, Ahad A AA; Gissen, Paul P

Publication Date: 2020-07-17

Variant appearance in text: NPC1: 2800C>T; R934X

PubMed Link: 32709131

Variant Present in the following documents:

• Main text
• ijms-21-05059.pdf

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Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.

Journal Of Clinical Medicine

Dardis, Andrea A; Zampieri, Stefania S; Gellera, Cinzia C; Carrozzo, Rosalba R; Cattarossi, Silvia S; Peruzzo, Paolo P; Dariol, Rosalia R; Sechi, Annalisa A; Deodato, Federica F; Caccia, Claudio C; Verrigni, Daniela D; Gasperini, Serena S; Fiumara, Agata A; Fecarotta, Simona S; Carecchio, Miryam M; Filosto, Massimiliano M; Santoro, Lucia L; Borroni, Barbara B; Bordugo, Andrea A; Brancati, Francesco F; Russo, Cinzia V CV; Di Rocco, Maja M; Toscano, Antonio A; Scarpa, Maurizio M; Bembi, Bruno B

Publication Date: 2020-03-03

Variant appearance in text: NPC1: 2800C>T; R934*

PubMed Link: 32138288

Variant Present in the following documents:

• Main text
• jcm-09-00679.pdf

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Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann-Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report.

Journal Of Medical Case Reports

Cuisset, Jean-Marie JM; Sukno, S S; Trauffler, A A; Latour, P P; Dobbelaere, D D; Michaud, L L; Vallée, L L

Publication Date: 2016-09-06

Variant appearance in text: NPC1: 2800C>T; Arg934*

PubMed Link: 27599728

Variant Present in the following documents:

• Main text
• 13256_2016_Article_1038.pdf

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Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C.

Acta Neuropathologica Communications

Dardis, A A; Zampieri, S S; Canterini, S S; Newell, K L KL; Stuani, C C; Murrell, J R JR; Ghetti, B B; Fiorenza, M T MT; Bembi, B B; Buratti, E E

Publication Date: 2016-05-18

Variant appearance in text: NPC1: R934X

PubMed Link: 27193329

Variant Present in the following documents:

• Main text
• 40478_2016_Article_325.pdf

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High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wassif, Christopher A CA; Cross, Joanna L JL; Iben, James J; Sanchez-Pulido, Luis L; Cougnoux, Antony A; Platt, Frances M FM; Ory, Daniel S DS; Ponting, Chris P CP; Bailey-Wilson, Joan E JE; Biesecker, Leslie G LG; Porter, Forbes D FD

Publication Date: 2016-01

Variant appearance in text: NPC1: 2800C>T; R934X; rs370721218

PubMed Link: 25764212

Variant Present in the following documents:

• Main text
• emss-62276.pdf

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Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.

Orphanet Journal Of Rare Diseases

Stampfer, Miriam M; Theiss, Susanne S; Amraoui, Yasmina Y; Jiang, Xuntian X; Keller, Sigrid S; Ory, Daniel S DS; Mengel, Eugen E; Fischer, Christine C; Runz, Heiko H

Publication Date: 2013-02-22

Variant appearance in text: NPC1: R934X

PubMed Link: 23433426

Variant Present in the following documents:

• 1750-1172-8-35.pdf

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Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage.

Journal Of Lipid Research

Tängemo, Carolina C; Weber, Dominik D; Theiss, Susanne S; Mengel, Eugen E; Runz, Heiko H

Publication Date: 2011-04

Variant appearance in text: NPC1: R934X

PubMed Link: 21245028

Variant Present in the following documents:

• Main text

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Exosome secretion ameliorates lysosomal storage of cholesterol in Niemann-Pick type C disease.

The Journal Of Biological Chemistry

Strauss, Katrin K; Goebel, Cornelia C; Runz, Heiko H; Möbius, Wiebke W; Weiss, Sievert S; Feussner, Ivo I; Simons, Mikael M; Schneider, Anja A

Publication Date: 2010-08-20

Variant appearance in text: NPC1: 2800C>T

PubMed Link: 20554533

Variant Present in the following documents:

• Main text

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