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Rose-Mary Boustany
Rose-Mary Boustany
Professor of Pediatrics and Adolescent Medicine, Biochemistry and Molecular Biology American University of Beirut
Verified email at aub.edu.lb - Homepage
Title
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Cited by
Year
Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse
H Gao, RMN Boustany, JA Espinola, SL Cotman, L Srinidhi, KA Antonellis, ...
The American Journal of Human Genetics 70 (2), 324-335, 2002
2432002
Lysosomal storage diseases—the horizon expands
RMN Boustany
Nature Reviews Neurology 9 (10), 583-598, 2013
2402013
Spectrum of mutations in the Batten disease gene, CLN3
PB Munroe, HM Mitchison, AM O'Rawe, JW Anderson, RM Boustany, ...
The American Journal of Human Genetics 61 (2), 310-316, 1997
2191997
Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder
DE Sleat, RM Gin, I Sohar, K Wisniewski, S Sklower-Brooks, RK Pullarkat, ...
The American Journal of Human Genetics 64 (6), 1511-1523, 1999
1931999
Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia
IK Svenson, AE Ashley-Koch, PC Gaskell, TJ Riney, WJK Cumming, ...
The American Journal of Human Genetics 68 (5), 1077-1085, 2001
1522001
Linkage of ‘pure’autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity
A Hentati, MA Perlcak-Vance, WY Hung, S Belal, N Laing, RM Boustany, ...
Human molecular genetics 3 (8), 1263-1267, 1994
1501994
CLN3 defines a novel antiapoptotic pathway operative in neurodegeneration and mediated by ceramide
KL Puranam, WX Guo, WH Qian, K Nikbakht, RM Boustany
Molecular genetics and metabolism 66 (4), 294-308, 1999
1431999
Apoptosis as the mechanism of neurodegeneration in Batten's disease
SC Lane, RD Jolly, DE Schmechel, J Alroy, RM Boustany
Journal of neurochemistry 67 (2), 677-683, 1996
1291996
Isolation of a novel gene underlying Batten disease, CLN3
TJ Lerner, RMN Boustany, JW Anderson, KL D'Arigo, K Schlumpf, ...
Cell 82 (6), 949-957, 1995
1251995
Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin
RN Boustany, JR Aprille, J Halperin, H Levy
Annals of Neurology: Official Journal of the American Neurological …, 1983
1251983
Clinical classification of neuronal ceroid‐lipofuscinosis subtypes
RMN Boustany, J Alroy, EH Kolodny, JM Opitz, JF Reynolds, RK Pullarkat
American Journal of Medical Genetics 31 (S5), 47-58, 1988
1131988
Allopregnanolone attenuates N-methyl-d-aspartate-induced excitotoxicity and apoptosis in the human NT2 cell line in culture
EM Lockhart, DS Warner, RD Pearlstein, DH Penning, S Mehrabani, ...
Neuroscience letters 328 (1), 33-36, 2002
1122002
Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers
A Hentati, MA Pericak-Vance, F Lennon, B Wasserman, F Hentati, ...
Human molecular genetics 3 (10), 1867-1871, 1994
1061994
Motifs within the CLN3 protein: modulation of cell growth rates and apoptosis
DANW Persaud-Sawin, A VanDongen, RMN Boustany
Human Molecular Genetics 11 (18), 2129-2142, 2002
1052002
The CLN9 protein, a regulator of dihydroceramide synthase
A Schulz, T Mousallem, M Venkataramani, DA Persaud-Sawin, A Zucker, ...
Journal of Biological Chemistry 281 (5), 2784-2794, 2006
1012006
Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant
A Schulz, S Dhar, S Rylova, G Dbaibo, J Alroy, C Hagel, I Artacho, ...
Annals of neurology 56 (3), 342-350, 2004
922004
The CLN3 gene is a novel molecular target for cancer drug discovery
SN Rylova, A Amalfitano, DA Persaud-Sawin, WX Guo, J Chang, ...
Cancer research 62 (3), 801-808, 2002
882002
Synergistic control of T cell development and tumor suppression by diacylglycerol kinase α and ζ
R Guo, CK Wan, JH Carpenter, T Mousallem, RMN Boustany, CT Kuan, ...
Proceedings of the National Academy of Sciences 105 (33), 11909-11914, 2008
872008
Flupirtine blocks apoptosis in batten patient lymphoblasts and in human postmitotic CLN3‐and CLN2‐deficient neurons
S Dhar, RL Bitting, SN Rylova, PJ Jansen, E Lockhart, DD Koeberl, ...
Annals of Neurology: Official Journal of the American Neurological …, 2002
842002
Upregulation of Bcl-2 and elevation of ceramide in Batten disease
K Puranam, WH Qian, K Nikbakht, M Venable, L Obeid, Y Hannun, ...
Neuropediatrics 28 (01), 37-41, 1997
841997
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