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Jesús S. Mora Pardina

Observed names: J.S. Mora Pardina, Jesus Mora Pardina, Jesus S Mora Pardina, Jesus S. Mora Pardina, Jesús Mora Pardina, Jesús S Mora Pardina
ORCID: 0000-0001-6633-5354
Observed ORCID: 0000-0001-6633-5354
OpenAlex ID: A5009864431
Genome-Wide Analyses Identify KIF5A as a Novel ALS Gene
2018 · Aude Nicolas, Kevin P. Kenna, et al. · Neuron · 694
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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
2021 · Wouter van Rheenen, Rick A. A. van der Spek, et al. · Nature Genetics · 559
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Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis
2022 · Sai Zhang, Johnathan Cooper-Knock, et al. · Neuron · 124
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Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS
2022 · Paul J. Hop, Ramona A.J. Zwamborn, et al. · Science Translational Medicine · 108
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Genetic variability in sporadic amyotrophic lateral sclerosis
2023 · Sien Hilde Van Daele, Matthieu Moisse, et al. · Brain · 91
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ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization
2020 · Gijs H P Tazelaar, Steven Boeynaems, et al. · Brain Communications · 58
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July 2017 ENCALS statement on edaravone
2017 · Ammar Al-Chalabi, Peter M. Andersen, et al. · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · 49
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The impact of age on genetic testing decisions in amyotrophic lateral sclerosis
2022 · Puja R Mehta, Alfredo Iacoangeli, et al. · Brain · 47
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Spanish adaptation of the revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R)
2010 · Teresa Salas Campos, Francisco Rodríguez-Santos, et al. · Amyotrophic Lateral Sclerosis · 46
Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene
2020 · Johnathan Cooper-Knock, Sai Zhang, et al. · Cell Reports · 42
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Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort
2018 · Gijs H.P. Tazelaar, Annelot M. Dekker, et al. · Neurobiology of Aging · 37
Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis
2026 · Paul J. Hop, Maarten Kooyman, et al. · Nature Genetics · 24
Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications
2025 · Alfredo Iacoangeli, Allison A. Dilliott, et al. · Journal of Neurology Neurosurgery & Psychiatry · 24
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La gastrostomía endoscópica percutánea en pacientes diagnosticados de esclerosis lateral amiotrófica: mortalidad y complicaciones
2018 · J. Carbó Perseguer, A. Madejón Seiz, et al. · Neurología · 23
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Safety and efficacy of oral levosimendan in people with amyotrophic lateral sclerosis (the REFALS study): a randomised, double-blind, placebo-controlled phase 3 trial
2021 · Merit Cudkowicz, Angela Genge, et al. · The Lancet Neurology · 21
Percutaneous endoscopic gastrostomy in patients with amyotrophic lateral sclerosis: mortality and complications
2018 · J. Carbó Perseguer, A. Madejón Seiz, et al. · Neurología (English Edition) · 20
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The Effect of SMN Gene Dosage on ALS Risk and Disease Severity
2021 · Matthieu Moisse, Ramona A. J. Zwamborn, et al. · Annals of Neurology · 16
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Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis
2019 · Annelot M. Dekker, Frank P. Diekstra, et al. · Scientific Reports · 16
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COURAGE-ALS: a randomized, double-blind phase 3 study designed to improve participant experience and increase the probability of success
2023 · Jeremy M. Shefner, Ammar Al-Chalabi, et al. · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · 14
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Paraspeckle condensation is controlled via TDP-43 polymerization and linked to neuroprotection
2026 · Rachel E. Hodgson, Wan-Ping Huang, et al. · Nature Cell Biology · 11
Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of ALS
2024 · Heather Marriott, Thomas P. Spargo, et al. · Annals of Clinical and Translational Neurology · 9
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Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data
2024 · Sara Saez-Atienzar, Cleide dos Santos Souza, et al. · Cell Genomics · 8
Unsupervised machine-learning identifies clinically distinct subtypes of ALS that reflect different genetic architectures and biological mechanisms
2023 · Thomas P Spargo, Heather Marriott, et al. · medRxiv · 8
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Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
2022 · Wouter van Rheenen, Rick A. A. van der Spek, et al. · Nature Genetics · 8
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Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis
2022 · Gijs H.P. Tazelaar, Paul J. Hop, et al. · Neurobiology of Aging · 7
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Works count: 33
Citation count: 2,133
H-index: 17
I10-index: 21
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