Functional consequences of a CKIδ mutation causing familial advanced sleep phase syndrome Y Xu, QS Padiath, RE Shapiro, CR Jones, SC Wu, N Saigoh, K Saigoh, ... Nature 434 (7033), 640-644, 2005 | 1026 | 2005 |
Lamin B1 duplications cause autosomal dominant leukodystrophy QS Padiath, K Saigoh, R Schiffmann, H Asahara, T Yamada, A Koeppen, ... Nature genetics 38 (10), 1114-1123, 2006 | 480 | 2006 |
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations NI Wolf, A Vanderver, RML Van Spaendonk, R Schiffmann, B Brais, ... Neurology 83 (21), 1898-1905, 2014 | 212 | 2014 |
Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation Q Saleem, S Choudhry, M Mukerji, L Bashyam, MV Padma, ... Human genetics 106, 179-187, 2000 | 167 | 2000 |
Concentric organization of A-and B-type lamins predicts their distinct roles in the spatial organization and stability of the nuclear lamina B Nmezi, J Xu, R Fu, TJ Armiger, G Rodriguez-Bey, JS Powell, H Ma, ... Proceedings of the National Academy of Sciences 116 (10), 4307-4315, 2019 | 147 | 2019 |
Natural history of vanishing white matter EMC Hamilton, HDW van der Lei, G Vermeulen, JAM Gerver, ... Annals of neurology 84 (2), 274-288, 2018 | 117 | 2018 |
Identification of a novel 45 repeat unstable allele associated with a disease phenotype at the MJD1/SCA3 locus QS Padiath, AK Srivastava, S Roy, S Jain, SK Brahmachari American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 133 …, 2005 | 104 | 2005 |
Lamin B1 mediates cell-autonomous neuropathology in a leukodystrophy mouse model MY Heng, ST Lin, L Verret, Y Huang, S Kamiya, QS Padiath, Y Tong, ... The Journal of clinical investigation 123 (6), 2719-2729, 2013 | 84 | 2013 |
Defects of lipid synthesis are linked to the age-dependent demyelination caused by lamin B1 overexpression H Rolyan, YY Tyurina, M Hernandez, AA Amoscato, LJ Sparvero, ... Journal of Neuroscience 35 (34), 12002-12017, 2015 | 74 | 2015 |
Glycogen synthase kinase 3β as a likely target for the action of lithium on circadian clocks QS Padiath, D Paranjpe, S Jain, VK Sharma Chronobiology international 21 (1), 43-55, 2004 | 74 | 2004 |
TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes J Curiel, G Rodríguez Bey, A Takanohashi, M Bugiani, X Fu, NI Wolf, ... Human molecular genetics 26 (22), 4506-4518, 2017 | 70 | 2017 |
TUBB4A de novo mutations cause isolated hypomyelination A Pizzino, TM Pierson, Y Guo, G Helman, S Fortini, K Guerrero, S Saitta, ... Neurology 83 (10), 898-902, 2014 | 66 | 2014 |
A clinical study of patients with genetically confirmed Huntington's disease from India UA Murgod, Q Saleem, A Anand, SK Brahmachari, S Jain, UB Muthane Journal of the neurological sciences 190 (1-2), 73-78, 2001 | 54 | 2001 |
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele‐Specific Expression E Giorgio, H Rolyan, L Kropp, AB Chakka, S Yatsenko, ED Gregorio, ... Human mutation 34 (8), 1160-1171, 2013 | 53 | 2013 |
Autosomal dominant leukodystrophy caused by lamin B1 duplications: a clinical and molecular case study of altered nuclear function and disease QS Padiath, YH Fu Methods in cell biology 98, 337-357, 2010 | 49 | 2010 |
The polyglutamine motif is highly conserved at the Clock locus in various organisms and is not polymorphic in humans Q Saleem, A Anand, S Jain, SK Brahmachari Human genetics 109, 136-142, 2001 | 49 | 2001 |
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations C Mancini, S Nassani, Y Guo, Y Chen, E Giorgio, A Brussino, ... Journal of neurology 262, 173-178, 2015 | 45 | 2015 |
Molecular analysis of Huntington's disease and linked polymorphisms in the Indian population Q Saleem, S Roy, U Murgood, R Saxena, IC Verma, A Anand, U Muthane, ... Acta neurologica scandinavica 108 (4), 281-286, 2003 | 45 | 2003 |
Association analysis of 5HT transporter gene in bipolar disorder in the Indian population Q Saleem, S Ganesh, M Vijaykumar, YCJ Reddy, SK Brahmachari, S Jain American journal of medical genetics 96 (2), 170-172, 2000 | 42 | 2000 |
Association of CAG repeat loci on chromosome 22 with schizophrenia and bipolar disorder Q Saleem, D Dash, C Gandhi, A Kishore, V Benegal, T Sherrin, ... Molecular Psychiatry 6 (6), 694-700, 2001 | 41 | 2001 |