Rose-Mary Boustany
Duke University(US)Duke University Hospital(US)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Cellular transport and secretion, Hereditary Neurological Disorders, Neurogenetic and Muscular Disorders Research, Glycogen Storage Diseases and Myoclonus
Most-Cited Works
- → Spectrum of Mutations in the Batten Disease Gene, CLN3(1997)205 cited
- → Mutational Analysis of the Defective Protease in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis, a Neurodegenerative Lysosomal Storage Disorder(1999)178 cited
- → Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers(1994)109 cited
- → Novel mutations in spastin gene and absence of correlation with age at onset of symptoms(2000)68 cited
- → Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients.(2020)41 cited
- → Apoptosis in development and disease of the nervous system: II. Apoptosis in childhood neurologic disease(1997)25 cited
- Neurological progress. The neuronal ceroid lipofuscinoses: a review.(1989)
- → Genome‐wide search for CLN2, the gene causing late‐infantile neuronal ceroid‐lipofuscinosis (LNCL)(1995)