Publications:

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: M1001V

PubMed Link: 34086834

Variant Present in the following documents:

• pone.0252825.s001.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: M1001V

PubMed Link: 23433426

Variant Present in the following documents:

• Main text
• 1750-1172-8-35.pdf

View BVdb publication page