Publications:

The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.

Brain : A Journal Of Neurology

Wu, Chujun C; Wang, Mengwen M; Wang, Xingao X; Li, Wei W; Li, Shaowu S; Chen, Bin B; Niu, Songtao S; Tai, Hongfei H; Pan, Hua H; Zhang, Zaiqiang Z

Publication Date: 2022-11-16

Variant appearance in text: PC: R445H

PubMed Link: 36380532

Variant Present in the following documents:

• awac426_supplementary_data.pdf

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Metabolomics hallmarks OPA1 variants correlating with their in vitro phenotype and predicting clinical severity.

Human Molecular Genetics

Chao de la Barca, Juan Manuel JM; Fogazza, Mario M; Rugolo, Michela M; Chupin, Stéphanie S; Del Dotto, Valentina V; Ghelli, Anna Maria AM; Carelli, Valerio V; Simard, Gilles G; Procaccio, Vincent V; Bonneau, Dominique D; Lenaers, Guy G; Reynier, Pascal P; Zanna, Claudia C

Publication Date: 2020-05-28

Variant appearance in text: PC: R445H

PubMed Link: 32202296

Variant Present in the following documents:

• Main text

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OPA1 disease alleles causing dominant optic atrophy have defects in cardiolipin-stimulated GTP hydrolysis and membrane tubulation.

Human Molecular Genetics

Ban, Tadato T; Heymann, Jürgen A W JA; Song, Zhiyin Z; Hinshaw, Jenny E JE; Chan, David C DC

Publication Date: 2010-06-01

Variant appearance in text: PC: R445H

PubMed Link: 20185555

Variant Present in the following documents:

• Main text
• ddq088.pdf

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