Functional analysis of Peutz–Jeghers mutations reveals that the LKB1 C-terminal region exerts a crucial role in regulating both the AMPK pathway and the cell polarity

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Human Molecular Genetics, Vol. 14, Iss. 10, 2005-05 ,pp. : 1283-1292

Oxford University Press

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Dystonia associated with mutation of the neuronal sodium channel Scn8a and identification of the modifier locus Scnm1 on mouse chromosome 3

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Oxford University Press

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X-linked dystonia parkinsonism syndrome (XDP, lubag): disease-specific sequence change DSC3 in TAF1/DYT3 affects genes in vesicular transport and dopamine metabolism

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Mutations in congenital myasthenic syndromes reveal an  subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR

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Drosophila model of Meier‐Gorlin syndrome based on the mutation in a conserved C‐Terminal domain of Orc6

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John Wiley & Sons Inc

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