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Rose Mary Boustany

Rose Mary Boustany

American University of Beirut - Beirut / Lebanon
Medical and Health Sciences / Pediatrics and Child Health
AD Scientific Index ID: 413646
الجامعة الاميركية في بيروت
person_outline Rose Mary Boustany's MOST POPULAR ARTICLES
1-) Lysosomal storage diseases—the horizon expands Nature Reviews Neurology 9 (10), 583-598, 2013
2-) Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse The American Journal of Human Genetics 70 (2), 324-335, 2002
3-) Spectrum of mutations in the Batten disease gene, CLN3 The American Journal of Human Genetics 61 (2), 310-316, 1997
4-) Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder The American Journal of Human Genetics 64 (6), 1511-1523, 1999
5-) Linkage of ‘pure’autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity Human molecular genetics 3 (8), 1263-1267, 1994