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Molecular Phenotypes Segregate Missense Mutations in SLC13A5 Epilepsy
Journal of Molecular BiologyAbstractThe sodium-coupled citrate transporter (NaCT, SLC13A5) mediates citrate uptake across the plasma membrane via an inward Na+gradient. Mutations in SLC13A5 cause early infantile epileptic encephalopathy type-25 (EIEE25, SLC13A5 Epilepsy) due to impaired citrate uptake in neurons.
Valeria Jaramillo-Martinez +5 more
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Integrative oncology: Addressing the global challenges of cancer prevention and treatment
Ca-A Cancer Journal for Clinicians, 2022Jun J Mao,, Msce +2 more
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Molecular phenotyping of Parkinson's disease
<p dir="ltr">Parkinson's disease is among the most prevalent neurodegenerative diseases, clinically characterized by motor symptoms resulting from progressive degeneration of dopaminergic neurons in the ventral midbrain. Pathologically, Parkinson's disease is defined by the accumulation of alpha-synuclein aggregates, forming Lewy bodies and Lewy ...openaire +1 more source
Multidisciplinary standards of care and recent progress in pancreatic ductal adenocarcinoma
Ca-A Cancer Journal for Clinicians, 2020Aaron J Grossberg +2 more
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Oral complications of cancer and cancer therapy
Ca-A Cancer Journal for Clinicians, 2012Joel B Epstein +2 more
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American Cancer Society Head and Neck Cancer Survivorship Care Guideline
Ca-A Cancer Journal for Clinicians, 2016Nader Sadeghi +2 more
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