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KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
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has major subject area list
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Autophagy; Lysosomes; Neurodegenerative Diseases; Potassium Channels
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information resource reference
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Metz KA, Teng X, Coppens I, Lamb HM, Wagner BE, Rosenfeld JA, Chen X, Zhang Y, Kim HJ, Meadow ME, Wang TS, Haberlandt ED, Anderson GW, Leshinsky-Silver E, Bi W, Markello TC, Pratt M, Makhseed N, Garnica A, Danylchuk NR, Burrow TA, Jayakar P, McKnight D, Agadi S, Gbedawo H, Stanley C, Alber M, Prehl I, Peariso K, Ong MT, Mordekar SR, Parker MJ, Crooks D, Agrawal PB, Berry GT, Loddenkemper T, Yang Y, Maegawa GHB, Aouacheria A, Markle JG, Wohlschlegel JA, Hartman AL, Hardwick JM. KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect. Ann Neurol. 2018 11; 84(5):766-780.
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label
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KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
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- Neurodegenerative Disorder
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