Biblio
Human IP receptor triple knockout stem cells remain pluripotent despite altered mitochondrial metabolism. Cell Calcium. 2023;114:102782.
Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light. Neurogenetics. 2023.
. Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia. Neuromuscul Disord. 2023;35:29-32.
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ALS and Parkinson's disease genes CHCHD10 and CHCHD2 modify synaptic transcriptomes in human IPSC-derived motor neurons. Neurobiol Dis. 2020:104940.
Attitudes towards genetic testing and information: does parenthood shape the views?. J Community Genet. 2020.