Citation Impact
Citing Papers
Ultrastructural Characterization of the Lower Motor System in a Mouse Model of Krabbe Disease
2016 Standout
Chiari I Malformation Redefined: Clinical and Radiographic Findings for 364 Symptomatic Patients
1999 Standout
Asymptomatic Chiari Type I malformations identified on magnetic resonance imaging
2000 Standout
Mitochondrial ATP synthase subunit c storage in the ceroid‐lipofuscinoses (Batten disease)
1992 StandoutNobel
Update on genetic disorders affecting white matter
2001
Neurobiology of Periventricular Leukomalacia in the Premature Infant
2001 Standout
Niemann-Pick disease type C
2010 Standout
Biosynthesis and Intracellular Targeting of the CLN3 Protein Defective in Batten Disease
1998
The molecular basis of human retinal and vitreoretinal diseases
2010 Standout
Prevalence of Lysosomal Storage Disorders
1999 Standout
Clinical and neuroradiological diagnostic aspects of neuronal ceroid lipofuscinoses disorders
2001
Dysmyelination Revealed through MRI as Increased Radial (but Unchanged Axial) Diffusion of Water
2002 Standout
Oligosaccharyl diphosphodolichols in the ceroid-lipofuscinoses
1988
Neuronal ceroid-lipofuscinoses in childhood
1988
New hypotheses for the health-protective mechanisms of whole-grain cereals: what is beyond fibre?
2010 Standout
Free sphingoid bases in tissues from patients with type C Niemann-Pick disease and other lysosomal storage disorders
1994
History, genetic, and recent advances on Krabbe disease
2014
Genetics of somatic mammalian cells: genetic, immunologic, and biochemical analysis with Chinese hamster cell hybrids containing selected human chromosomes.
1976
Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus
1990 Standout
METABOLIC SUBSTRATE ENGINEERING AS A TOOL FOR GLYCOBIOLOGY
2002 StandoutNobel
Vitamin E deficiency and metabolic deficits in neuronal ceroid lipofuscinosis described by bioinformatics
2002
Purification, Biochemical and Immunological Characterisation of Hexosaminidase A from Variant AB of Infantile GM2 Gangliosidosis
1978
High Levels of Brain Dolichols in Neuronal Ceroid‐Lipofuscinosis and Senescence
1983
Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight.
1980 Standout
Biosynthesis and metabolic degradation of sphingolipids not containing sialic acid
1972
Works of Jerry Jacob being referenced
The Newfoundland aggregate of neuronal ceroid-lipofuscinosis
1988
G M2 ‐gangliosidosis with total hexosaminidase deficiency
1971
The Chiari Malformation in Adults
1975
Krabbe's disease: globoid cell leukodystrophy.
1973
THE ULTRASTRUCTURAL CHARACTERISTICS OF THE ABNORMAL CYTOSOMES IN BATTEN-KUFS' DISEASE
1977