Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene M Mahadevan, C Tsilfidis, L Sabourin, G Shutler, C Amemiya, G Jansen, ... Science 255 (5049), 1253-1255, 1992 | 2006 | 1992 |
The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy N Roy, MS Mahadevan, M McLean, G Shutter, Z Yaraghi, R Farahani, ... Cell 80 (1), 167-178, 1995 | 1252 | 1995 |
Cloning of the essential myotonic dystrophy region and mapping of the putative defect C Aslanidis, G Jansen, C Amemiya, G Shutler, M Mahadevan, C Tsilfidis, ... Nature 355 (6360), 548-551, 1992 | 651 | 1992 |
The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy. A Hunter, C Tsilfidis, G Mettler, P Jacob, M Mahadevan, L Surh, ... Journal of medical genetics 29 (11), 774-779, 1992 | 302 | 1992 |
Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy MS Mahadevan, RS Yadava, Q Yu, S Balijepalli, CD Frenzel-McCardell, ... Nature genetics 38 (9), 1066-1070, 2006 | 208 | 2006 |
Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene LA Sabouri, MS Mahadevan, M Narang, DSC Lee, LC Surh, RG Korneluk Nature genetics 4 (3), 233-238, 1993 | 191 | 1993 |
Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene MS Mahadevan, C Amemiya, G Jansen, L Sabourin, S Baird, CE Neville, ... Human molecular genetics 2 (3), 299-304, 1993 | 185 | 1993 |
Characterization of the myotonic dystrophy region predicts multiple protein isoform–encoding mRNAs G Jansen, M Mahadevan, C Amemiya, N Wormskamp, B Segers, ... Nature genetics 1 (4), 261-266, 1992 | 179 | 1992 |
Cis and Trans Effects of the Myotonic Dystrophy (DM) Mutation in a Cell Culture Model JD Amack, AP Paguio, MS Mahadevan Human molecular genetics 8 (11), 1975-1984, 1999 | 165 | 1999 |
Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission KL O'Hoy, C Tsilfidis, MS Mahadevan, CE Neville, J Barceló, AGW Hunter, ... Science 259 (5096), 809-812, 1993 | 155 | 1993 |
The RNA-binding protein Staufen1 is increased in DM1 skeletal muscle and promotes alternative pre-mRNA splicing A Ravel-Chapuis, G Bélanger, RS Yadava, MS Mahadevan, ... Journal of Cell Biology 196 (6), 699-712, 2012 | 141 | 2012 |
The myotonic dystrophy expanded CUG repeat tract is necessary but not sufficient to disrupt C2C12 myoblast differentiation JD Amack, MS Mahadevan Human molecular genetics 10 (18), 1879-1887, 2001 | 120 | 2001 |
RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression RS Yadava, CD Frenzel-McCardell, Q Yu, V Srinivasan, AL Tucker, ... Nature genetics 40 (1), 61-68, 2008 | 106 | 2008 |
Intergenerational stability of the myotonic dystrophy protomutation JM Barceló, MS Mahadevan, C Tsilfidis, AE MacKenzie, RG Korneluk Human Molecular Genetics 2 (6), 705-709, 1993 | 105 | 1993 |
Sequence of a 131-kb region of 5q13. 1 containing the spinal muscular atrophy candidate genes SMN and NAIP Q Chen, SD Baird, M Mahadevan, A Besner-Johnston, R Farahani, ... Genomics 48 (1), 121-127, 1998 | 99 | 1998 |
Myotonic dystrophy: the role of the CUG triplet repeats in splicing of a novel DMPK exon and altered cytoplasmic DMPK mRNA isoform ratios G Tiscornia, MS Mahadevan Molecular cell 5 (6), 959-967, 2000 | 81 | 2000 |
Therapeutics development in myotonic dystrophy type 1 EP Foff, MS Mahadevan Muscle & nerve 44 (2), 160-169, 2011 | 75 | 2011 |
Myogenic defects in myotonic dystrophy JD Amack, MS Mahadevan Developmental biology 265 (2), 294-301, 2004 | 75 | 2004 |
Characterization and polymerase chain reaction (PCR) detection of an Alu deletion polymorphism in total linkage disequilibrium with myotonic dystrophy MS Mahadevan, MA Foitzik, LC Surh, RG Korneluk Genomics 15 (2), 446-448, 1993 | 73 | 1993 |
Overexpression of MBNL1 fetal isoforms and modified splicing of Tau in the DM1 brain: two individual consequences of CUG trinucleotide repeats CM Dhaenens, S Schraen-Maschke, H Tran, V Vingtdeux, D Ghanem, ... Experimental neurology 210 (2), 467-478, 2008 | 72 | 2008 |