Publications:

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: 3047A>T; H1016L

PubMed Link: 32709131

Variant Present in the following documents:

• Main text
• ijms-21-05059.pdf

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Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells.

Human Molecular Genetics

Ebrahimi-Fakhari, Darius D; Wahlster, Lara L; Bartz, Fabian F; Werenbeck-Ueding, Jennifer J; Praggastis, Maria M; Zhang, Jessie J; Joggerst-Thomalla, Brigitte B; Theiss, Susanne S; Grimm, Dirk D; Ory, Daniel S DS; Runz, Heiko H

Publication Date: 2016-08-15

Variant appearance in text: NPC1: H1016L

PubMed Link: 27378690

Variant Present in the following documents:

• Main text
• ddw204.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: H1016L

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: H1016L

PubMed Link: 21245028

Variant Present in the following documents:

• Main text

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