Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2

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Human Molecular Genetics, Vol. 16, Iss. 24, 2007-12 ,pp. : 2991-3001

Oxford University Press

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Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand -glucocerebrosidase

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P0S63del impedes the arrival of wild-type P0 glycoprotein to myelin in CMT1B mice

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Positive and negative feedback regulates the transcription factor FOXL2 in response to cell stress: evidence for a regulatory imbalance induced by disease-causing mutations

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Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot–Marie–Tooth disease type 4B1

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