TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A
2022 · Nature · 486 citations
https://doi.org/10.1038/s41586-022-04436-3
D
Darius J. Adams
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Darius J. Adams is an academic researcher from University of California, Riverside. The author has contributed to research in topics: Metabolism and Genetic Disorders & Mitochondrial Function and Pathology & Amyotrophic Lateral Sclerosis Research. The author has an h-index of 22, co-authored 40 publications.
ORCID: 0000-0002-8723-260XPapers by this author
works<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
2017 · Journal of Medical Genetics · 249 citations
https://doi.org/10.1136/jmedgenet-2016-104509
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation
2016 · Nature Communications · 146 citations
https://doi.org/10.1038/ncomms11600
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
2020 · Neuron · 82 citations
https://doi.org/10.1016/j.neuron.2020.11.005
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
2020 · Neuron · 82 citations
https://doi.org/10.1016/j.neuron.2020.11.005
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria
2019 · Molecular Genetics and Metabolism · 67 citations
https://doi.org/10.1016/j.ymgme.2019.04.004
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