Skip to Main Content

Author Details

Jonathan D Cooper
Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield
1987
221
62
Nevan J Krogan (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
35871544Atypical TDP-43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP.Brain Pathol2023
37251807A Y374X TDP43 truncation leads to an altered metabolic profile in amyotrophic lateral sclerosis fibroblasts driven by pyruvate and TCA cycle intermediate alterations.Front Aging Neurosci2023
37078466A mouse mutant deficient in both neuronal ceroid lipofuscinosis-associated proteins CLN3 and TPP1.J Inherit Metab Dis2023
37340071Causal factors in primary open angle glaucoma: a phenome-wide Mendelian randomisation study.Sci Rep2023
37104037Gene therapy ameliorates spontaneous seizures associated with cortical neuron loss in a Cln2R207X mouse model.J Clin Invest2023
36857431A cell-penetrant peptide blocking <i>C9ORF72</i>-repeat RNA nuclear export reduces the neurotoxic effects of dipeptide repeat proteins.Sci Transl Med2023
36918362Physical activity as an exogenous risk factor for amyotrophic lateral sclerosis: a review of the evidence.Brain2023
36937187Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival.Front Cell Neurosci2023
36705323Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration.Elife2023
34599043Implications of confirmed de novo pathogenic SOD1 mutations.J Neurol Neurosurg Psychiatry2022
35444603Glial Dysfunction and Its Contribution to the Pathogenesis of the Neuronal Ceroid Lipofuscinoses.Front Neurol2022
35441136Unbiased metabolome screen leads to personalized medicine strategy for amyotrophic lateral sclerosis.Brain Commun2022
35717448Tralesinidase Alfa Enzyme Replacement Therapy Prevents Disease Manifestations in a Canine Model of Mucopolysaccharidosis Type IIIB.J Pharmacol Exp Ther2022
35690068Multiomic analysis reveals cell-type-specific molecular determinants of COVID-19 severity.Cell Syst2022
36589292Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data.Front Cell Neurosci2022
36438942Top-down and bottom-up propagation of disease in the neuronal ceroid lipofuscinoses.Front Neurol2022
36419468Brain transplantation of genetically corrected Sanfilippo type B neural stem cells induces partial cross-correction of the disease.Mol Ther Methods Clin Dev2022
36040802Cross-species efficacy of enzyme replacement therapy for CLN1 disease in mice and sheep.J Clin Invest2022
36241425Low expression of EXOSC2 protects against clinical COVID-19 and impedes SARS-CoV-2 replication.Life Sci Alliance2022
36206691Unbiased metabolome screen links serum urate to risk of Alzheimer's disease.Neurobiol Aging2022
36078049Modelling Neurological Diseases in Large Animals: Criteria for Model Selection and Clinical Assessment.Cells2022
35291294Low expression of EXOSC2 protects against clinical COVID-19 and impedes SARS-CoV-2 replication.bioRxiv2022
35091648Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis.NPJ Genom Med2022
34791088A review of Mendelian randomization in amyotrophic lateral sclerosis.Brain2022
32365404TDP43 proteinopathy is associated with aberrant DNA methylation in human amyotrophic lateral sclerosis.Neuropathol Appl Neurobiol2021
33535055Rare variant burden analysis within enhancers identifies CAV1 as an ALS risk gene.Cell Rep2021
33589474Value of systematic genetic screening of patients with amyotrophic lateral sclerosis.J Neurol Neurosurg Psychiatry2021
33839004Biochemical evaluation of intracerebroventricular rhNAGLU-IGF2 enzyme replacement therapy in neonatal mice with Sanfilippo B syndrome.Mol Genet Metab2021
33665223Intracranial delivery of AAV9 gene therapy partially prevents retinal degeneration and visual deficits in CLN6-Batten disease mice.Mol Ther Methods Clin Dev2021
34623437Membrane lipid raft homeostasis is directly linked to neurodegeneration.Essays Biochem2021
34796871Enrichment of <i>SARM1</i> alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders.Elife2021
34343141Advances in the genetic classification of amyotrophic lateral sclerosis.Curr Opin Neurol2021
34189540Common and rare variant analyses combined with single-cell multiomics reveal cell-type-specific molecular mechanisms of COVID-19 severity.medRxiv2021
33284045Simultaneous ALS and SCA2 associated with an intermediate-length <i>ATXN2</i> CAG-repeat expansion.Amyotroph Lateral Scler Frontotemporal Degener2021
33468103The gut microbiome: a key player in the complexity of amyotrophic lateral sclerosis (ALS).BMC Med2021
32594542Review: Microglia in motor neuron disease.Neuropathol Appl Neurobiol2021
32841420Spinal manifestations of CLN1 disease start during the early postnatal period.Neuropathol Appl Neurobiol2021
32537944Myelin and Lipid Composition of the Corpus Callosum in Mucopolysaccharidosis Type I Mice.Lipids2020
31724708Disrupted glycosylation of lipids and proteins is a cause of neurodegeneration.Brain2020
31926264Future perspectives: What lies ahead for Neuronal Ceroid Lipofuscinosis research?Biochim Biophys Acta Mol Basis Dis2020
31678162Pathomechanisms in the neuronal ceroid lipofuscinoses.Biochim Biophys Acta Mol Basis Dis2020
32034258Generation of light-producing somatic-transgenic mice using adeno-associated virus vectors.Sci Rep2020
33113879Transcriptomic Analysis of Age-Associated Periventricular Lesions Reveals Dysregulation of the Immune Response.Int J Mol Sci2020
32938982Comparative proteomic profiling reveals mechanisms for early spinal cord vulnerability in CLN1 disease.Sci Rep2020
32733193Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia.Front Neurosci2020
32619119Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis.Amyotroph Lateral Scler Frontotemporal Degener2020
32391572Oligodendrocyte pathology exceeds axonal pathology in white matter in human amyotrophic lateral sclerosis.J Pathol2020
32467583Long non-coding RNA Neat1 regulates adaptive behavioural response to stress in mice.Transl Psychiatry2020
30470609Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis.Lancet Neurol2019
31242592Age-Associated mRNA and miRNA Expression Changes in the Blood-Brain Barrier.Int J Mol Sci2019
  • 1 - 50 of 221

Recommended Authors

Caitlin S Latimer
University of Washington
Career Start Year 2011
Number of shared co-authors 2
Michael E Ward
National Institute of Neurological, National Institutes of Health (NIH)
Career Start Year 2011
Number of shared co-authors 7
Susan Byrne
Royal College of Surgeons in Ireland
Career Start Year 2010
Number of shared co-authors 0
Vivek Swarup
David Geffen School of Medicine, University of California los angeles
Career Start Year 2007
Number of shared co-authors 7
Karen N McFarland
Center for Translational Research in Neurodegenerative Disease, University of Florida
Career Start Year 2005
Number of shared co-authors 2
Merina Varghese
Friedman Brain Institute, Icahn School of Medicine at Mount Sinai
Career Start Year 2005
Number of shared co-authors 1
Yaqiao Li
Harvard Medical School
Career Start Year 2005
Number of shared co-authors 3
Gaia Novarino
Institute of Science and Technology Austria (ISTA)
Career Start Year 2004
Number of shared co-authors 1
Melissa McAlonis-Downes
Ludwig Institute for Cancer Research
Career Start Year 2003
Number of shared co-authors 2
Mina Ryten
UCL Great Ormond Street Institute of Child Health, University College London
Career Start Year 2001
Number of shared co-authors 24
Li Gan
Helen and Robert Appel Alzheimer's Disease Research Institute
Career Start Year 1999
Number of shared co-authors 5
Giovanni Coppola
David Geffen School of Medicine, University of California los angeles
Career Start Year 1999
Number of shared co-authors 15
Christopher Dirk Keene
University of Washington
Career Start Year 1998
Number of shared co-authors 16
Sami J Barmada
University of Michigan ann arbor
Career Start Year 1997
Number of shared co-authors 3
Stephan Frank
Universitatsspital Basel
Career Start Year 1996
Number of shared co-authors 1
Suman Jayadev
University of Washington
Career Start Year 1995
Number of shared co-authors 9
Mustafa Sahin
Harvard Medical School
Career Start Year 1990
Number of shared co-authors 4
Eric J Huang
University of California san francisco
Career Start Year 1990
Number of shared co-authors 8
Daniel H Geschwind
University of California los angeles
Career Start Year 1989
Number of shared co-authors 32
William T Dauer
Peter O'Donnell Jr. Brain Institute
Career Start Year 1988
Number of shared co-authors 3
Valina L Dawson
Institute for Cell Engineering, Johns Hopkins University School of Medicine
Career Start Year 1988
Number of shared co-authors 8
Joseph D Buxbaum
Icahn School of Medicine at Mount Sinai
Career Start Year 1986
Number of shared co-authors 27
Rose-Mary Boustany
American University of Beirut Medical Center
Career Start Year 1983
Number of shared co-authors 2
Ted M Dawson
Johns Hopkins University School of Medicine
Career Start Year 1983
Number of shared co-authors 19
Raymond S Turner
Georgetown University
Career Start Year 1981
Number of shared co-authors 7
Dennis W Dickson
Mayo Clinic Jacksonville
Career Start Year 1981
Number of shared co-authors 29
Steven M Hersch
Inc. University Avenue
Career Start Year 1980
Number of shared co-authors 2
Michelle E Ehrlich
Icahn School of Medicine at Mount Sinai
Career Start Year 1980
Number of shared co-authors 3
Lawrence S Honig
University of California
Career Start Year 1975
Number of shared co-authors 19
Daniel P Perl
Uniformed Services University School of Medicine
Career Start Year 1968
Number of shared co-authors 12

Collaborators

Pamela J Shaw
Sheffield Institute for Translational Neuroscience, University of Sheffield
Co-authored papers 48
David A Pearce
Sanford School of Medicine, University of South Dakota
Co-authored papers 15
Guillaume M Hautbergue
Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield
Co-authored papers 12
William C Mobley
University of California San Diego
Co-authored papers 8
Steven Q Le
Co-authored papers 7
Lydia M Castelli
Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield
Co-authored papers 6
Laura Ferraiuolo
Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield
Co-authored papers 6
Jill M Weimer
Co-authored papers 5
Mimoun Azzouz
Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield
Co-authored papers 5
Sai Zhang
Center for Genomics and Personalized Medicine, Stanford University School of Medicine
Co-authored papers 4
Clive N Svendsen
Co-authored papers 4
Michael Snyder
Stanford University
Co-authored papers 3
Wenbin Wei
Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield
Co-authored papers 2
Chun-Hung Chan
Tuen Mun Hospital, Hospital Authority
Co-authored papers 2
Panagiotis I Sergouniotis
University of Manchester
Co-authored papers 2
Graeme C M Black
Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital
Co-authored papers 2
Mark O Collins
University of Sheffield
Co-authored papers 2
John Q Trojanowski
University of Pennsylvania
Co-authored papers 2
Cleide Dos Santos Souza
Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield
Co-authored papers 2
Richard W Horobin
The University of Glasgow
Co-authored papers 2
Julia A Kaye
J. David Gladstone Institutes
Co-authored papers 2
Alessandra Renieri
University of Siena
Co-authored papers 2
Julian L Griffin
Cambridge University
Co-authored papers 2
Annika K Weimer
Co-authored papers 2
Philip S Tsao
Stanford University School of Medicine.
Co-authored papers 2
Jan Rehwinkel
MRC Weatherall Institute of Molecular Medicine, University of Oxford
Co-authored papers 2
Safa Al-Sarraj
Co-authored papers 2
Mark M Davis
Co-authored papers 2
Nevan J Krogan (CM4AI)
University of California San Francisco
Co-authored papers 2
Guy A Rouleau
McGill University, Canada Montreal Neurological Institute and Hospital
Co-authored papers 2
Release 1.2