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Pamela J. Keagle

Observed names: P Keagle, P. Keagle, Pamela J Keagle, Pamela Keagle
ORCID: 0000-0002-6847-4152
Observed ORCID: 0000-0002-6847-4152
OpenAlex ID: A5017125332
Complete genome sequence of Methanobacterium thermoautotrophicum deltaH: functional analysis and comparative genomics
1997 · D R Smith, L A Doucette-Stamm, et al. · Journal of Bacteriology · 1,133
Genome-Wide Analyses Identify KIF5A as a Novel ALS Gene
2018 · Aude Nicolas, Kevin P. Kenna, et al. · Neuron · 679
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Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
2012 · Chi-Hong Wu, Claudia Fallini, et al. · Nature · 603
Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS
2014 · Bradley N. Smith, Nicola Ticozzi, et al. · Neuron · 367
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NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
2016 · Kevin P Kenna, Perry T C van Doormaal, et al. · Nature Genetics · 287
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Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis
2011 · Michael A. van Es, Helenius J. Schelhaas, et al. · Annals of Neurology · 200
Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis
2011 · N. Ticozzi, C. Vance, et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 169
Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort
2009 · N. Ticozzi, V. Silani, et al. · Neurology · 160
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A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories
2014 · Chizuru Akimoto, Alexander E Volk, et al. · Journal of Medical Genetics · 131
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The distinct genetic pattern of ALS in Turkey and novel mutations
2015 · Aslıhan Özoğuz, Özgün Uyan, et al. · Neurobiology of Aging · 104
ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function
2022 · Desiree M. Baron, Adam R. Fenton, et al. · Cell Reports · 101
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A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts
2012 · Caroline Ingre, John E. Landers, et al. · Neurobiology of Aging · 87
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis
2021 · Janel O. Johnson, Ruth Chia, et al. · JAMA Neurology · 82
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Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
2020 · Ramita Dewan, Ruth Chia, et al. · Neuron · 82
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Paraoxonase gene mutations in amyotrophic lateral sclerosis
2010 · Nicola Ticozzi, Ashley Lyn LeClerc, et al. · Annals of Neurology · 78
Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson’s disease
2024 · Paul J. Hop, Dongbing Lai, et al. · Nature Genetics · 67
Mutational analysis of TARDBP in neurodegenerative diseases
2009 · Nicola Ticozzi, Ashley Lyn LeClerc, et al. · Neurobiology of Aging · 62
ATXN2 intermediate expansions in amyotrophic lateral sclerosis
2022 · Jonathan D Glass, Ramita Dewan, et al. · Brain · 54
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Role of Lysosomal Gene Variants in Modulating GBA ‐Associated Parkinson's Disease Risk
2022 · Letizia Straniero, Valeria Rimoldi, et al. · Movement Disorders · 33
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Characterization of FUS Mutations in Amyotrophic Lateral Sclerosis Using RNA-Seq
2013 · Marka van Blitterswijk, Eric T. Wang, et al. · PLoS ONE · 25
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Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia
2024 · Salome Funes, Jonathan Jung, et al. · Nature Communications · 24
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Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients
2012 · Eliana Marisa Ramos, Pamela Keagle, et al. · Amyotrophic Lateral Sclerosis · 20
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
2020 · Ramita Dewan, Ruth Chia, et al. · SSRN Electronic Journal · 4
Whole genome sequencing analysis in primary lateral sclerosis (PLS) patients reveals mutations in neurological diseases-causing genes
2025 · Arianna Manini, Alberto Brusati, et al. · Journal of Neurology · 2
Identification of FUS/TLS gene mutation in a cohort of Italian FALS patients
2009 · Nicola Ticozzi, Vincenzo Silani, et al.
Works count: 26
Citation count: 4,554
H-index: 21
I10-index: 22
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