| Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis DR Rosen, T Siddique, D Patterson, DA Figlewicz, P Sapp, A Hentati, ... Nature 362 (6415), 59-62, 1993 | 8763 | 1993 |
| Motor neuron degeneration in mice that express a human Cu, Zn superoxide dismutase mutation ME Gurney, H Pu, AY Chiu, MC Dal Canto, CY Polchow, DD Alexander, ... Science 264 (5166), 1772-1775, 1994 | 4855 | 1994 |
| Amyotrophic lateral Ssclerosis and structural defects in cu, Zn superoxide dismutase HX Deng, A Hentati, JA Tainer, Z Iqbal, A Cayabyab, WY Hung, ... Science 261 (5124), 1047-1051, 1993 | 1887 | 1993 |
| Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia HX Deng, W Chen, ST Hong, KM Boycott, GH Gorrie, N Siddique, Y Yang, ... Nature 477 (7363), 211-215, 2011 | 1389 | 2011 |
| The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis YI Yang, A Hentati, HX Deng, O Dabbagh, T Sasaki, M Hirano, WY Hung, ... Nature genetics 29 (2), 160-165, 2001 | 946 | 2001 |
| SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis F Fecto, J Yan, SP Vemula, E Liu, Y Yang, W Chen, JG Zheng, Y Shi, ... Archives of neurology 68 (11), 1440-1446, 2011 | 769 | 2011 |
| Conversion to the amyotrophic lateral sclerosis phenotype is associated with intermolecular linked insoluble aggregates of SOD1 in mitochondria HX Deng, Y Shi, Y Furukawa, H Zhai, R Fu, E Liu, GH Gorrie, MS Khan, ... Proceedings of the National Academy of Sciences 103 (18), 7142-7147, 2006 | 532 | 2006 |
| FUS‐immunoreactive inclusions are a common feature in sporadic and non‐SOD1 familial amyotrophic lateral sclerosis HX Deng, H Zhai, EH Bigio, J Yan, F Fecto, K Ajroud, M Mishra, ... Annals of neurology 67 (6), 739-748, 2010 | 435 | 2010 |
| Intense superoxide dismutase-1 immunoreactivity in intracytoplasmic hyaline inclusions of familial amyotrophic lateral sclerosis with posterior column involvement N Shibata, A Hirano, M Kobayashi, T Siddique, HX Deng, WY Hung, ... Journal of neuropathology and experimental neurology 55 (4), 481-490, 1996 | 369 | 1996 |
| FUS pathology defines the majority of tau-and TDP-43-negative frontotemporal lobar degeneration H Urwin, KA Josephs, JD Rohrer, IR Mackenzie, M Neumann, A Authier, ... Acta neuropathologica 120, 33-41, 2010 | 307 | 2010 |
| Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4 HX Deng, CJ Klein, J Yan, Y Shi, Y Wu, F Fecto, HJ Yau, Y Yang, H Zhai, ... Nature genetics 42 (2), 165-169, 2010 | 293 | 2010 |
| Iron accumulation in deep cortical layers accounts for MRI signal abnormalities in ALS: correlating 7 tesla MRI and pathology JY Kwan, SY Jeong, P Van Gelderen, HX Deng, MM Quezado, ... PloS one 7 (4), e35241, 2012 | 273 | 2012 |
| Disulfide cross-linked protein represents a significant fraction of ALS-associated Cu, Zn-superoxide dismutase aggregates in spinal cords of model mice Y Furukawa, R Fu, HX Deng, T Siddique, TV O'Halloran Proceedings of the National Academy of Sciences 103 (18), 7148-7153, 2006 | 270 | 2006 |
| Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia J Yan, HX Deng, N Siddique, F Fecto, W Chen, Y Yang, E Liu, ... Neurology 75 (9), 807-814, 2010 | 237 | 2010 |
| Genetics of amyotrophic lateral sclerosis T Siddique, HX Deng Human molecular genetics 5 (Supplement_1), 1465-1470, 1996 | 232 | 1996 |
| Identification of TMEM230 mutations in familial Parkinson's disease HX Deng, Y Shi, Y Yang, KB Ahmeti, N Miller, C Huang, L Cheng, H Zhai, ... Nature genetics 48 (7), 733-739, 2016 | 197 | 2016 |
| Hyperactive intracellular calcium signaling associated with localized mitochondrial defects in skeletal muscle of an animal model of amyotrophic lateral sclerosis J Zhou, J Yi, R Fu, E Liu, T Siddique, E Ríos, HX Deng Journal of Biological Chemistry 285 (1), 705-712, 2010 | 154 | 2010 |
| Wild-type SOD1 overexpression accelerates disease onset of a G85R SOD1 mouse L Wang, HX Deng, G Grisotti, H Zhai, T Siddique, RP Roos Human molecular genetics 18 (9), 1642-1651, 2009 | 136 | 2009 |
| Human α‐tocopherol transfer protein: Gene structure and mutations in familial vitamin E deficiency A Hentati, HX Deng, WY Hung, M Nayer, MS Ahmed, X He, R Tim, ... Annals of Neurology: Official Journal of the American Neurological …, 1996 | 133 | 1996 |
| Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis R Schüle, T Siddique, HX Deng, Y Yang, S Donkervoort, M Hansson, ... Journal of lipid research 51 (4), 819-823, 2010 | 127 | 2010 |
