Publications:

Mitochondrial Function and Parkinson's Disease: From the Perspective of the Electron Transport Chain.

Frontiers In Molecular Neuroscience

Li, Jeng-Lin JL; Lin, Tai-Yi TY; Chen, Po-Lin PL; Guo, Ting-Ni TN; Huang, Shu-Yi SY; Chen, Chun-Hong CH; Lin, Chin-Hsien CH; Chan, Chih-Chiang CC

Publication Date: 2021

Variant appearance in text: DMD: N370S

PubMed Link: 34955747

Variant Present in the following documents:

• fnmol-14-797833.pdf

View BVdb publication page

NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.

Bmc Medical Genetics

Singh, Kanika K; Bijarnia-Mahay, Sunita S; Ramprasad, V L VL; Puri, Ratna Dua RD; Nair, Sandhya S; Sharda, Sheetal S; Saxena, Renu R; Kohli, Sudha S; Kulshreshtha, Samarth S; Ganguli, Indrani I; Gujral, Kanwal K; Verma, Ishwar C IC

Publication Date: 2020-11-02

Variant appearance in text: DMD: Asn370Ser

PubMed Link: 33138774

Variant Present in the following documents:

• Main text
• 12881_2020_Article_1153.pdf

View BVdb publication page

A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease.

Molecular Genetics & Genomic Medicine

Malekkou, Anna A; Sevastou, Ioanna I; Mavrikiou, Gavriella G; Georgiou, Theodoros T; Vilageliu, Lluisa L; Moraitou, Marina M; Michelakakis, Helen H; Prokopiou, Chrystalla C; Drousiotou, Anthi A

Publication Date: 2020-03

Variant appearance in text: DMD: N370S

PubMed Link: 31943857

Variant Present in the following documents:

• MGG3-8-e1090.pdf

View BVdb publication page

Disease variants in genomes of 44 centenarians.

Molecular Genetics & Genomic Medicine

Freudenberg-Hua, Yun Y; Freudenberg, Jan J; Vacic, Vladimir V; Abhyankar, Avinash A; Emde, Anne-Katrin AK; Ben-Avraham, Danny D; Barzilai, Nir N; Oschwald, Dayna D; Christen, Erika E; Koppel, Jeremy J; Greenwald, Blaine B; Darnell, Robert B RB; Germer, Soren S; Atzmon, Gil G; Davies, Peter P

Publication Date: 2014-09

Variant appearance in text: DMD: N370S

PubMed Link: 25333069

Variant Present in the following documents:

• Main text
• mgg30002-0438.pdf

View BVdb publication page