Publications:

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Vertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C.

Plos One

Hopf, Susanne S; Hennermann, Julia B JB; Schuster, Alexander K AK; Pfeiffer, Norbert N; Pitz, Susanne S

Publication Date: 2021

Variant appearance in text: NPC1: G1162A

PubMed Link: 34086834

Variant Present in the following documents:

• pone.0252825.s001.pdf

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Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process.

Nature Communications

Wang, Chao C; Scott, Samantha M SM; Subramanian, Kanagaraj K; Loguercio, Salvatore S; Zhao, Pei P; Hutt, Darren M DM; Farhat, Nicole Y NY; Porter, Forbes D FD; Balch, William E WE

Publication Date: 2019-11-07

Variant appearance in text: NPC1: G1162A

PubMed Link: 31699992

Variant Present in the following documents:

• 41467_2019_12969_MOESM1_ESM.pdf

View BVdb publication page

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Individualized management of genetic diversity in Niemann-Pick C1 through modulation of the Hsp70 chaperone system.

Human Molecular Genetics

Wang, Chao C; Scott, Samantha M SM; Sun, Shuhong S; Zhao, Pei P; Hutt, Darren M DM; Shao, Hao H; Gestwicki, Jason E JE; Balch, William E WE

Publication Date: 2020-01-01

Variant appearance in text: NPC1: G1162A

PubMed Link: 31509197

Variant Present in the following documents:

• Main text

View BVdb publication page

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Different Niemann-Pick C1 Genotypes Generate Protein Phenotypes that Vary in their Intracellular Processing, Trafficking and Localization.

Scientific Reports

Shammas, Hadeel H; Kuech, Eva-Maria EM; Rizk, Sandra S; Das, Anibh M AM; Naim, Hassan Y HY

Publication Date: 2019-03-28

Variant appearance in text: NPC1: G1162A

PubMed Link: 30923329

Variant Present in the following documents:

• Main text
• 41598_2019_41707_MOESM1_ESM.pdf
• 41598_2019_Article_41707.pdf

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Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.

Febs Letters

Mazzacuva, Francesca F; Mills, Philippa P; Mills, Kevin K; Camuzeaux, Stephane S; Gissen, Paul P; Nicoli, Elena-Raluca ER; Wassif, Christopher C; Te Vruchte, Danielle D; Porter, Forbes D FD; Maekawa, Masamitsu M; Mano, Nariyasu N; Iida, Takashi T; Platt, Frances F; Clayton, Peter T PT

Publication Date: 2016-06

Variant appearance in text: NPC1: G1162A

PubMed Link: 27139891

Variant Present in the following documents:

• FEB2-590-1651-s001.pdf

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Niemann-pick disease type C: new aspects in a long published family - partial manifestations in heterozygotes.

Jimd Reports

Harzer, Klaus K; Beck-Wödl, Stefanie S; Bauer, Peter P

Publication Date: 2014

Variant appearance in text: NPC1: G1162A

PubMed Link: 23821321

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: G1162A

PubMed Link: 23433426

Variant Present in the following documents:

• 1750-1172-8-35.pdf

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