Doublecortin mutations cluster in evolutionarily conserved functional domains

By Sapir Tamar   Horesh David   Caspi Michal   Atlas Roee   Burgess Harold A.   Wolf Sharon Grayer  

Human Molecular Genetics, Vol. 9, Iss. 5, 2000-03 ,pp. : 703-712

Oxford University Press

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Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in mice

By de Geest N.   Bonten E.   Mann L.   de Sousa-Hitzler J.   Hahn C.   d'Azzo A.  

Human Molecular Genetics, Vol. 11, Iss. 12, 2002-06 ,pp. : 1455-1464

Oxford University Press

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

By Lukong Kiven E.   Elsliger Marc-André   Chang Yuan   Richard Catherine   Thomas George  

Human Molecular Genetics, Vol. 9, Iss. 7, 2000-04 ,pp. : 1075-1085

Oxford University Press

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Cloning of the cDNA and gene encoding mouse lysosomal sialidase and correction of sialidase deficiency in human sialidosis and mouse SM/J fibroblasts

By Igdoura S.A.  

Human Molecular Genetics, Vol. 7, Iss. 1, 1998-01 ,pp. : 115-121

Oxford University Press

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Functional consequences of mutations in the early growth response 2 gene ( EGR2 ) correlate with severity of human myelinopathies

By Warner Laura E.  

Human Molecular Genetics, Vol. 8, Iss. 7, 1999-07 ,pp. : 1245-1251

Oxford University Press

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