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Human Molecular Genetics, Vol. 7, Iss. 11, 1998-11 ,pp. : 1787-1794

Oxford University Press

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Premature death and neurologic abnormalities in transgenic mice expressing a mutant huntingtin exon-2 fragment

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Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex

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Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis

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A block of autophagy in lysosomal storage disorders

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