| Lysosomal storage diseases—the horizon expands RMN Boustany Nature Reviews Neurology 9 (10), 583-598, 2013 | 285 | 2013 |
| 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 | 258 | 2002 |
| 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 | 239 | 1997 |
| 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 | 196 | 1999 |
| 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 | 162 | 2001 |
| 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 | 162 | 1994 |
| 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 | 149 | 1995 |
| 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 | 144 | 1999 |
| 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 | 131 | 1983 |
| 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 | 129 | 1996 |
| 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 | 120 | 2002 |
| 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 | 113 | 2002 |
| 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 | 112 | 1994 |
| 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 | 109 | 1988 |
| 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 | 104 | 2006 |
| 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 | 97 | 2008 |
| 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 | 96 | 2002 |
| 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 | 96 | 2002 |
| 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 | 95 | 2004 |
| A galactosylceramide binding domain is involved in trafficking of CLN3 from Golgi to rafts via recycling endosomes DA Persaud-Sawin, JO McNamara, S Rylova, A Vandongen, ... Pediatric research 56 (3), 449-463, 2004 | 90 | 2004 |
