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K P Figueroa
K P Figueroa
Verified email at genetics.utah.edu
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Cited by
Year
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
3712000
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
3432006
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
3132017
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
2041997
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
1862014
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
1851994
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
1662006
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
1632005
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
1591999
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
1532013
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
1492018
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
1072016
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
1042010
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
972015
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
942018
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
892012
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
831998
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
802014
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
721998
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
711998
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