Publications:

Nonsense Suppression Therapy: An Emerging Treatment for Hereditary Skin Diseases.

Acta Dermato-Venereologica

Yu, Jiangfan J; Tang, Bingsi B; He, Xinglan X; Zou, Puyu P; Zeng, Zhuotong Z; Xiao, Rong R

Publication Date: 2022-02-28

Variant appearance in text: SMN1: W102X

PubMed Link: 35083492

Variant Present in the following documents:

• Main text
• ActaDV-102-353.pdf

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CRISPR-Cas13 Inhibitors Block RNA Editing in Bacteria and Mammalian Cells.

Molecular Cell

Lin, Ping P; Qin, Shugang S; Pu, Qinqin Q; Wang, Zhihan Z; Wu, Qun Q; Gao, Pan P; Schettler, Jacob J; Guo, Kai K; Li, Rongpeng R; Li, Guoping G; Huang, Canhua C; Wei, Yuquan Y; Gao, George Fu GF; Jiang, Jianxin J; Wu, Min M

Publication Date: 2020-06-04

Variant appearance in text: SMN1: Trp102Ter

PubMed Link: 32348779

Variant Present in the following documents:

• Main text

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How do SMA-linked mutations of SMN1 lead to structural/functional deficiency of the SMA protein?

Plos One

Li, Wei W

Publication Date: 2017

Variant appearance in text: SMA: Trp102X

PubMed Link: 28570645

Variant Present in the following documents:

• Main text
• pone.0178519.s002.pdf
• pone.0178519.pdf

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Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study.

European Journal Of Human Genetics : Ejhg

Tiziano, Francesco D FD; Lomastro, Rosa R; Di Pietro, Lorena L; Barbara Pasanisi, Maria M; Fiori, Stefania S; Angelozzi, Carla C; Abiusi, Emanuela E; Angelini, Corrado C; Sorarù, Gianni G; Gaiani, Alessandra A; Mongini, Tiziana T; Vercelli, Liliana L; Vasco, Gessica G; Vita, Giuseppe G; Luca Vita, Gian G; Messina, Sonia S; Politano, Luisa L; Passamano, Luigia L; Di Gregorio, Grazia G; Montomoli, Cristina C; Orsi, Chiara C; Campanella, Angela A; Mantegazza, Renato R; Morandi, Lucia L

Publication Date: 2013-06

Variant appearance in text: SMN1: W102X

PubMed Link: 23073312

Variant Present in the following documents:

• Main text

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