Publications:

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Anti-TNF therapy for inflammatory bowel disease in patients with neurodegenerative Niemann-Pick disease Type C.

Wellcome Open Research

Williams, Isabelle I; Pandey, Sumeet S; Haller, Wolfram W; Huynh, Hien Quoc HQ; Chan, Alicia A; Düeker, Gesche G; Bettels, Ruth R; Peyrin-Biroulet, Laurent L; Dike, Chinenye R CR; DeGeeter, Catherine C; Smith, David D; Al Eisa, Nada N; Platt, Nick N; Marquardt, Thorsten T; Schwerd, Tobias T; Platt, Frances M FM; Uhlig, Holm H HH

Publication Date: 2022

Variant appearance in text: NPC1: 3731T>C; L1244P

PubMed Link: 35694196

Variant Present in the following documents:

• Main text
• wellcomeopenres-7-18754.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: 3731T>C; L1244P

PubMed Link: 32138288

Variant Present in the following documents:

• Main text
• jcm-09-00679.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: L1244P

PubMed Link: 31699992

Variant Present in the following documents:

• 41467_2019_12969_MOESM1_ESM.pdf

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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: L1244P

PubMed Link: 31509197

Variant Present in the following documents:

• Main text

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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: L1244P

PubMed Link: 30923329

Variant Present in the following documents:

• Main text
• 41598_2019_Article_41707.pdf

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The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease.

Jimd Reports

Amiri, Mahdi M; Kuech, Eva-Maria EM; Shammas, Hadeel H; Wetzel, Gabi G; Naim, Hassan Y HY

Publication Date: 2016

Variant appearance in text: NPC1: 3731T>C; L1244P

PubMed Link: 26122626

Variant Present in the following documents:

• Main text

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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: L1244P

PubMed Link: 23433426

Variant Present in the following documents:

• 1750-1172-8-35.pdf

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