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 | 371 | 2000 |
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 | 343 | 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 | 313 | 2017 |
Spinocerebellar ataxia type 6: frequency of the mutation and genotype-phenotype correlations DH Geschwind, S Perlman, KP Figueroa, J Karrim, RW Baloh, SM Pulst Neurology 49 (5), 1247-1251, 1997 | 204 | 1997 |
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes S Tezenas du Montcel, A Durr, P Bauer, KP Figueroa, Y Ichikawa, ... Brain 137 (9), 2444-2455, 2014 | 186 | 2014 |
Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas J Sainz, DP Huynh, K Figueroa, NK Ragge, ME Baser, SM Pulst Human molecular genetics 3 (6), 885-891, 1994 | 185 | 1994 |
Generation and characterization of Sca2 (ataxin-2) knockout mice TR Kiehl, A Nechiporuk, KP Figueroa, MT Keating, DP Huynh, SM Pulst Biochemical and biophysical research communications 339 (1), 17-24, 2006 | 166 | 2006 |
Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset SM Pulst, N Santos, D Wang, H Yang, D Huynh, L Velazquez, ... Brain 128 (10), 2297-2303, 2005 | 163 | 2005 |
Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22 L Zu, KP Figueroa, R Grewal, SM Pulst The American Journal of Human Genetics 64 (2), 594-599, 1999 | 159 | 1999 |
Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study T Ashizawa, KP Figueroa, SL Perlman, CM Gomez, GR Wilmot, ... Orphanet journal of rare diseases 8, 1-8, 2013 | 153 | 2013 |
Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation … TA Zesiewicz, G Wilmot, SH Kuo, S Perlman, PE Greenstein, SH Ying, ... Neurology 90 (10), 464-471, 2018 | 149 | 2018 |
Depression and clinical progression in spinocerebellar ataxias RY Lo, KP Figueroa, SM Pulst, S Perlman, G Wilmot, C Gomez, ... Parkinsonism & related disorders 22, 87-92, 2016 | 107 | 2016 |
KCNC3: phenotype, mutations, channel biophysics—a study of 260 familial ataxia patients KP Figueroa, NA Minassian, G Stevanin, M Waters, V Garibyan, S Forlani, ... Human mutation 31 (2), 191-196, 2010 | 104 | 2010 |
Ataxin-2 Regulates RGS8 Translation in a New BAC-SCA2 Transgenic Mouse Model W Dansithong, S Paul, KP Figueroa, MD Rinehart, S Wiest, LT Pflieger, ... PLoS genetics 11 (4), e1005182, 2015 | 97 | 2015 |
Staufen1 links RNA stress granules and autophagy in a model of neurodegeneration S Paul, W Dansithong, KP Figueroa, DR Scoles, SM Pulst Nature communications 9 (1), 3648, 2018 | 94 | 2018 |
Shared predispositions of parkinsonism and cancer: a population-based pedigree-linked study SA Kareus, KP Figueroa, LA Cannon-Albright, SM Pulst Archives of neurology 69 (12), 1572-1577, 2012 | 89 | 2012 |
Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia RP Grewal, E Tayag, KP Figueroa, L Zu, A Durazo, C Nunez, SM Pulst Neurology 51 (5), 1423-1426, 1998 | 83 | 1998 |
Amyotrophic lateral sclerosis risk for spinocerebellar ataxia type 2 ATXN2 CAG repeat alleles: a meta-analysis AG Neuenschwander, KK Thai, KP Figueroa, SM Pulst JAMA neurology 71 (12), 1529-1534, 2014 | 80 | 2014 |
The Mouse SCA2 Gene: cDNA Sequence, Alternative Splicing and Protein Expression T Nechiporuk, DP Huynh, K Figueroa, S Sahba, A Nechiporuk, SM Pulst Human molecular genetics 7 (8), 1301-1309, 1998 | 72 | 1998 |
Genomic Structure of the Human Gene for Spinocerebellar Ataxia Type 2 (SCA2) on Chromosome 12q24.1 S Sahba, A Nechiporuk, KP Figueroa, T Nechiporuk, SM Pulst Genomics 47 (3), 359-364, 1998 | 71 | 1998 |