Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2 GA Rouleau, P Merel, M Lutchman, M Sanson, J Zucman, C Marineau, ... Nature 363 (6429), 515-521, 1993 | 1660 | 1993 |
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2 SM Pulst, A Nechiporuk, T Nechiporuk, S Gispert, XN Chen, ... Nature genetics 14 (3), 269-276, 1996 | 1327 | 1996 |
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways ET Cirulli, BN Lasseigne, S Petrovski, PC Sapp, PA Dion, CS Leblond, ... Science 347 (6229), 1436-1441, 2015 | 1022 | 2015 |
Genome-wide analyses identify KIF5A as a novel ALS gene A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ... Neuron 97 (6), 1267-1288, 2018 | 623 | 2018 |
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10 T Matsuura, T Yamagata, DL Burgess, A Rasmussen, RP Grewal, ... Nature genetics 26 (2), 191-194, 2000 | 621 | 2000 |
Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 mice LA Becker, B Huang, G Bieri, R Ma, DA Knowles, P Jafar-Nejad, ... Nature 544 (7650), 367-371, 2017 | 543 | 2017 |
Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region K Kamino, HT Orr, H Payami, EM Wijsman, ME Alonso, SM Pulst, ... American journal of human genetics 51 (5), 998, 1992 | 386 | 1992 |
Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human DP Huynh, K Figueroa, N Hoang, SM Pulst Nature genetics 26 (1), 44-50, 2000 | 376 | 2000 |
The neuroimaging and clinical spectrum of neurofibromatosis 2 VF Mautner, M Lindenau, ME Baser, W Hazim, M Tatagiba, W Haase, ... Neurosurgery 38 (5), 880-886, 1996 | 361 | 1996 |
Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype JR Korenberg, H Kawashima, SM Pulst, T Ikeuchi, N Ogasawara, ... American journal of human genetics 47 (2), 236, 1990 | 351 | 1990 |
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes MF Waters, NA Minassian, G Stevanin, KP Figueroa, JPA Bannister, ... Nature genetics 38 (4), 447-451, 2006 | 344 | 2006 |
Antisense oligonucleotide therapy for spinocerebellar ataxia type 2 DR Scoles, P Meera, MD Schneider, S Paul, W Dansithong, KP Figueroa, ... Nature 544 (7650), 362-366, 2017 | 322 | 2017 |
Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2 J Liu, TS Tang, H Tu, O Nelson, E Herndon, DP Huynh, SM Pulst, ... Journal of Neuroscience 29 (29), 9148-9162, 2009 | 315 | 2009 |
The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. DH Geschwind, S Perlman, CP Figueroa, LJ Treiman, SM Pulst American journal of human genetics 60 (4), 842, 1997 | 303 | 1997 |
A novel protein with RNA-binding motifs interacts with ataxin-2 H Shibata, DP Huynh, SM Pulst Human molecular genetics 9 (9), 1303-1313, 2000 | 283 | 2000 |
The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinates synaptotagmin XI DP Huynh, DR Scoles, D Nguyen, SM Pulst Human molecular genetics 12 (20), 2587-2597, 2003 | 277 | 2003 |
Spinal tumors in patients with neurofibromatosis type 2: MR imaging study of frequency, multiplicity, and variety. VF Mautner, M Tatagiba, M Lindenau, C Fünsterer, SM Pulst, ME Baser, ... AJR. American journal of roentgenology 165 (4), 951-955, 1995 | 237 | 1995 |
Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1 RM Costa, T Yang, DP Huynh, SM Pulst, DH Viskochil, AJ Silva, ... Nature genetics 27 (4), 399-405, 2001 | 233 | 2001 |
Expression of ataxin‐2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2 DP Huynh, MR Del Bigio, DH Ho, SM Pulst Annals of Neurology: Official Journal of the American Neurological …, 1999 | 233 | 1999 |
Loss of Miro1-directed mitochondrial movement results in a novel murine model for neuron disease TT Nguyen, SS Oh, D Weaver, A Lewandowska, D Maxfield, MH Schuler, ... Proceedings of the National Academy of Sciences 111 (35), E3631-E3640, 2014 | 232 | 2014 |