Publications:

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Spectrum of Movement Disorders in Niemann-Pick Disease Type C.

Tremor And Other Hyperkinetic Movements (New York, N.Y.)

Devaraj, Rashmi R; Mahale, Rohan R RR; Sindhu, D M DM; Stezin, Albert A; Kamble, Nitish N; Holla, Vikram V VV; Netravathi, M M; Yadav, Ravi R; Pal, Pramod Kumar PK

Publication Date: 2022

Variant appearance in text: NPC1: 3634G>T; Val1212Leu

PubMed Link: 36187872

Variant Present in the following documents:

• tohm-12-1-701.pdf

View BVdb publication page

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Case Report: Be Aware of "New" Features of Niemann-Pick Disease: Insights From Two Pediatric Cases.

Frontiers In Genetics

Chen, Fan F; Guo, Shan S; Li, Xuesong X; Liu, Shengxuan S; Wang, Li L; Zhang, Victor Wei VW; Xu, Hui H; Huang, Zhihua Z; Ying, Yanqin Y; Shu, Sainan S

Publication Date: 2022

Variant appearance in text: NPC1: Val1212Leu

PubMed Link: 35360843

Variant Present in the following documents:

• Main text
• fgene-13-845246.pdf

View BVdb publication page

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Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1.

Scientific Reports

Chiorean, Andreea A; Garver, William S WS; Meyre, David D

Publication Date: 2020-11-02

Variant appearance in text: rs753419933

PubMed Link: 33139814

Variant Present in the following documents:

• 41598_2020_75919_MOESM2_ESM.xlsx, sheet 3
• 41598_2020_75919_MOESM2_ESM.xlsx, sheet 1

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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: V1212L

PubMed Link: 31509197

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.

Molecular Genetics & Genomic Medicine

Hong, Sha S; Wang, Li L; Zhao, Dongying D; Zhang, Yonghong Y; Chen, Yan Y; Tan, Jintong J; Liang, Lili L; Zhu, Tianwen T

Publication Date: 2019-06

Variant appearance in text: NPC1: 3634G>T; V1212L

PubMed Link: 30968598

Variant Present in the following documents:

• Main text
• MGG3-7-e684.pdf

View BVdb publication page

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Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection.

Cell

Gong, Xin X; Qian, Hongwu H; Zhou, Xinhui X; Wu, Jianping J; Wan, Tao T; Cao, Pingping P; Huang, Weiyun W; Zhao, Xin X; Wang, Xudong X; Wang, Peiyi P; Shi, Yi Y; Gao, George F GF; Zhou, Qiang Q; Yan, Nieng N

Publication Date: 2016-06-02

Variant appearance in text: NPC1: V1212L

PubMed Link: 27238017

Variant Present in the following documents:

• mmc1.pdf
• mmc2.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: NPC1: V1212L

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: NPC1: V1212L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients.

Orphanet Journal Of Rare Diseases

Zhang, Huiwen H; Wang, Yu Y; Lin, Na N; Yang, Rui R; Qiu, Wenjuan W; Han, Lianshu L; Ye, Jun J; Gu, Xuefan X

Publication Date: 2014-06-10

Variant appearance in text: NPC1: 3634G>T; V1212L

PubMed Link: 24915861

Variant Present in the following documents:

• Main text
• 1750-1172-9-82.pdf

View BVdb publication page

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