Brent Fogel
Brent Fogel
Associate Professor of Neurology and Human Genetics; University of Los Angeles, California (UCLA)
Verified email at ucla.edu - Homepage
Title
Cited by
Cited by
Year
Clinical exome sequencing for genetic identification of rare Mendelian disorders
H Lee, JL Deignan, N Dorrani, SP Strom, S Kantarci, F Quintero-Rivera, ...
Jama 312 (18), 1880-1887, 2014
7552014
Clinical features and molecular genetics of autosomal recessive cerebellar ataxias
BL Fogel, S Perlman
The Lancet Neurology 6 (3), 245-257, 2007
3002007
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia
BL Fogel, H Lee, JL Deignan, SP Strom, S Kantarci, X Wang, ...
JAMA neurology 71 (10), 1237-1246, 2014
1852014
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
A Legati, D Giovannini, G Nicolas, U López-Sánchez, B Quintáns, ...
Nature genetics 47 (6), 579-581, 2015
1792015
RBFOX1 regulates both splicing and transcriptional networks in human neuronal development
BL Fogel, E Wexler, A Wahnich, T Friedrich, C Vijayendran, F Gao, ...
Human molecular genetics 21 (19), 4171-4186, 2012
1642012
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
SC Hsu, RL Sears, RR Lemos, B Quintáns, A Huang, E Spiteri, L Nevarez, ...
Neurogenetics 14 (1), 11-22, 2013
1292013
Adult polyglucosan body disease: natural history and key magnetic resonance imaging findings
F Mochel, R Schiffmann, ME Steenweg, HO Akman, M Wallace, F Sedel, ...
Annals of neurology 72 (3), 433-441, 2012
962012
Whole exome sequencing in patients with white matter abnormalities
A Vanderver, C Simons, G Helman, J Crawford, NI Wolf, G Bernard, ...
Annals of neurology 79 (6), 1031-1037, 2016
862016
Clinical neurogenetics: autosomal dominant spinocerebellar ataxia
VG Shakkottai, BL Fogel
Neurologic clinics 31 (4), 987-1007, 2013
852013
A cellular protein, hnRNP H, binds to the negative regulator of splicing element from Rous sarcoma virus
BL Fogel, MT McNally
Journal of Biological Chemistry 275 (41), 32371-32378, 2000
752000
An approach to the patient with late-onset cerebellar ataxia
BL Fogel, S Perlman
Nature Clinical Practice Neurology 2 (11), 629-635, 2006
572006
Do mutations in the murine ataxia gene TRPC3 cause cerebellar ataxia in humans?
BL Fogel, SM Hanson, EBE Becker
Movement disorders: official journal of the Movement Disorder Society 30 (2 …, 2015
562015
Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2
BL Fogel, S Perlman
Neurology 67 (11), 2083-2084, 2006
552006
Clinical exome sequencing in neurologic disease
BL Fogel, S Satya-Murti, BH Cohen
Neurology: Clinical Practice 6 (2), 164-176, 2016
522016
Emerging therapies in Friedreich's ataxia
TV Aranca, TM Jones, JD Shaw, JS Staffetti, T Ashizawa, SH Kuo, ...
Neurodegenerative disease management 6 (1), 49-65, 2016
512016
Orchestration of neurodevelopmental programs by RBFOX1: implications for autism spectrum disorder
BR Bill, JK Lowe, CT DyBuncio, BL Fogel
International review of neurobiology 113, 251-267, 2013
502013
Bioinformatics-based identification of expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVAS
H Rafehi, DJ Szmulewicz, MF Bennett, NLM Sobreira, K Pope, KR Smith, ...
The American Journal of Human Genetics 105 (1), 151-165, 2019
492019
Childhood cerebellar ataxia
BL Fogel
Journal of child neurology 27 (9), 1138-1145, 2012
472012
Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2
BL Fogel, E Cho, A Wahnich, F Gao, OJ Becherel, X Wang, F Fike, L Chen, ...
Human molecular genetics 23 (18), 4758-4769, 2014
462014
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
402013
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