J. Robertson

R. Conwit, J. Licht, P. Andersen, 2012, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

ALSUntangled No. 36: Accilion

R. Conwit, J. Licht, P. Andersen, 2017, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Loss of C9orf72 perturbs the Ran-GTPase gradient and generates compositionally diverse cytoplasmic Importin β-1 granules in motor and cortical neurons in vivo

Thomas M. Durcan, J. Robertson, P. McGoldrick, 2021, bioRxiv.

Hypermethylation of the CpG-island near the C 9 orf 72 G 4 C 2-repeat expansion in FTLD patients

S. Sorbi, B. Nacmias, D. Galimberti, 2014 .

Hypermethylation of the CpG-island near the C9orf72 G₄C₂-repeat expansion in FTLD patients.

P. S. St George-Hyslop, S. Sorbi, B. Nacmias, 2014, Human molecular genetics.

A truncating SOD1 mutation, p.Gly141X, is associated with clinical and pathologic heterogeneity, including frontotemporal lobar degeneration

Kevin F. Bieniek, M. Murray, D. Dickson, 2015, Acta Neuropathologica.

Unaffected mosaic C9orf72 case

L. Petrucelli, E. Rogaeva, C. Sato, 2017, Neurology.

A two‐hybrid screen identifies an unconventional role for the intermediate filament peripherin in regulating the subcellular distribution of the SNAP25‐interacting protein, SIP30

B. Gentil, H. Durham, J. Robertson, 2014, Journal of neurochemistry.

Apoptotic death of neurons exhibiting peripherin aggregates is mediated by the proinﬂammatory cytokine tumor necrosis factor- (cid:2)

J. Julien, J. Beaulieu, H. Durham, 2001 .

Defective axonal transport of neurofilament proteins in neurons overexpressing peripherin

J. Mallet, J. Julien, S. Millecamps, 2006, Journal of neurochemistry.

CAPTURE ALS: the comprehensive analysis platform to understand, remedy and eliminate ALS

Alan C. Evans, Y. Iturria-Medina, E. Rogaeva, 2022, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Nodding syndrome in Uganda is a tauopathy

D. Kitara, M. Pollanen, P. McKeever, 2018, Acta Neuropathologica.

Dysregulation of chromatin remodelling complexes in amyotrophic lateral sclerosis

E. Rogaeva, L. Zinman, B. Gentil, 2017, Human molecular genetics.

A C-Terminally Truncated TDP-43 Splice Isoform Exhibits Neuronal Specific Cytoplasmic Aggregation and Contributes to TDP-43 Pathology in ALS

J. Robertson, S. Xiao, Agnes Lau, 2022, Frontiers in Neuroscience.

Low molecular weight species of TDP-43 generated by abnormal splicing form inclusions in amyotrophic lateral sclerosis and result in motor neuron death

E. Rogaeva, L. Zinman, A. Chakrabartty, 2015, Acta Neuropathologica.

Evidence That TDP-43 is Not the Major Ubiquitinated Target Within the Pathological Inclusions of Amyotrophic Lateral Sclerosis

L. Zinman, P. Horne, J. Bilbao, 2007, Journal of neuropathology and experimental neurology.

Immunohistochemical detection of C9orf72 protein in frontotemporal lobar degeneration and motor neurone disease: patterns of immunostaining and an evaluation of commercial antibodies

D. Mann, S. Rollinson, S. Pickering-Brown, 2017, Amyotrophic lateral sclerosis & frontotemporal degeneration.

A novel double mutation in FUS gene causing sporadic ALS

L. Hazrati, E. Rogaeva, I. Mackenzie, 2011, Neurobiology of Aging.

Synaptic localization of C9orf72 regulates post-synaptic glutamate receptor 1 levels

P. McKeever, J. Robertson, S. Xiao, 2019, Acta Neuropathologica Communications.

Isoform‐specific antibodies reveal distinct subcellular localizations of C9orf72 in amyotrophic lateral sclerosis

E. Rogaeva, Ming Zhang, L. Zinman, 2015, Annals of neurology.

Jump from pre-mutation to pathologic expansion in C9orf72.

D. Dickson, P. Fraser, E. Rogaeva, 2015, American journal of human genetics.

A neurotoxic peripherin splice variant in a mouse model of ALS

J. Julien, M. Strong, G. Shaw, 2003, The Journal of cell biology.

Interactions between peripherin and neurofilaments in cultured cells: disruption of peripherin assembly by the NF-M and NF-H subunits.

J. Julien, J. Beaulieu, J. Robertson, 1999, Biochemistry and cell biology = Biochimie et biologie cellulaire.

A complex of C9ORF72 and p62 uses arginine methylation to eliminate stress granules by autophagy

Gareth A. Palidwor, J. Côté, E. Rogaeva, 2018, Nature Communications.

Clinical Reasoning: A 42-year-old man with unilateral leg weakness

E. Rogaeva, L. Zinman, R. Schneider, 2018, Neurology.

Lack of TDP-43 abnormalities in mutant SOD1 transgenic mice shows disparity with ALS

E. Pioro, M. Strong, P. Horne, 2007, Neuroscience Letters.

TDP-43 stabilizes G3BP1 mRNA: relevance to amyotrophic lateral sclerosis/frontotemporal dementia

L. Zinman, P. Legault, M. Tétreault, 2021, Brain : a journal of neurology.

TDP-43 stabilizes transcripts encoding stress granule protein G3BP1: potential relevance to ALS/FTD

L. Zinman, P. Legault, M. Tétreault, 2020, bioRxiv.

Somatic expansion of the C9orf72 hexanucleotide repeat does not occur in ALS spinal cord tissues

G. Rouleau, M. Strong, L. Zinman, 2019, Neurology: Genetics.

Gene Targeting of Mouse Tardbp Negatively Affects Masp2 Expression

J. Robertson, S. Xiao, S. Dib, 2014, PloS one.

Identical twins with the C9orf72 repeat expansion are discordant for ALS

A. Singleton, E. Rogaeva, Y. Yunusova, 2014, Neurology.

Implementation of an antibody characterization procedure and application to the major ALS/FTD disease gene C9ORF72

Thomas M. Durcan, H. McBride, F. Benaliouad, 2019, eLife.

Implementation of an antibody characterization process: Application to the major ALS/FTD disease gene C9ORF72

Thomas M. Durcan, H. McBride, F. Benaliouad, 2018, bioRxiv.

Incorporation of NF‐L into keratin filaments in transfected epithelial cells

J. Gallo, B. Anderton, J. Robertson, 1997, Neuroreport.

Assembly Properties of Neurofilament Light Chain Ser55 Mutants in Transfected Mammalian Cells

Christopher C. J. Miller, J. Robertson, B. Gibb, 1996, Journal of neurochemistry.

Genetic studies of GRN and IFT74 in amyotrophic lateral sclerosis

E. Rogaeva, C. Sato, L. Zinman, 2008, Neurobiology of Aging.

ALSUntangled: Introducing The Table of Evidence

R. Conwit, J. Licht, P. Andersen, 2015, Amyotrophic lateral sclerosis & frontotemporal degeneration.

MicroRNA Expression Levels Are Altered in the Cerebrospinal Fluid of Patients with Young-Onset Alzheimer’s Disease

A. Boxer, A. Karydas, M. Tartaglia, 2018, Molecular Neurobiology.

RNA targets of TDP-43 identified by UV-CLIP are deregulated in ALS

E. Rogaeva, L. Zinman, J. Bilbao, 2011, Molecular and Cellular Neuroscience.

ADAR2 mislocalization and widespread RNA editing aberrations in C9orf72-mediated ALS/FTD

Jennifer L. Levy, Rebecca A. Reiman, L. Petrucelli, 2019, Acta Neuropathologica.

Inhibition of Aberrant and Constitutive Phosphorylation of the High‐Molecular‐Mass Neurofilament Subunit by CEP‐1347 (KT7515), an Inhibitor of the Stress‐Activated Protein Kinase Signaling Pathway

E. O'ferrall, J. Robertson, W. Mushynski, 2000, Journal of neurochemistry.

ALS-associated peripherin spliced transcripts form distinct protein inclusions that are neuroprotective against oxidative stress

O. Isacson, Jonathan A. Beagan, P. Hallett, 2014, Experimental Neurology.

ALS mutations in FUS cause neuronal dysfunction and death in Caenorhabditis elegans by a dominant gain-of-function mechanism

T. Kawano, M. Zhen, P. S. St George-Hyslop, 2011, Human molecular genetics.

MTHFSD and DDX58 are novel RNA-binding proteins abnormally regulated in amyotrophic lateral sclerosis.

E. Rogaeva, J. Julien, M. Ghani, 2016, Brain : a journal of neurology.

MTHFSD and DDX 58 are novel RNA-binding proteins abnormally regulated in amyotrophic lateral sclerosis

E. Rogaeva, J. Julien, M. Ghani, 2015 .

Cholinergic neuron gene expression differences captured by translational profiling in a mouse model of Alzheimer's disease

Zhaolei Zhang, G. Favrin, P. George-Hyslop, 2017, Neurobiology of Aging.

Neuronal intermediate filaments and ALS: a new look at an old question.

J. Robertson, S. Xiao, J. McLean, 2006, Biochimica et biophysica acta.

The spectrum of disease and tau pathology of nodding syndrome in Uganda

I. Mackenzie, D. Kitara, M. Pollanen, 2022, Brain : a journal of neurology.

Neuropathologic description of CHCHD10 mutated amyotrophic lateral sclerosis

E. Rogaeva, Ming Zhang, L. Zinman, 2020, Neurology: Genetics.

Loss of CHCHD10–CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS

E. Shoubridge, E. Rogaeva, Woranontee Weraarpachai, 2018, Human molecular genetics.

ALS Untangled No. 17: “When ALS Is Lyme”

R. Conwit, J. Licht, P. Andersen, 2012, Amyotrophic Lateral Sclerosis.

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients

S. Sorbi, B. Nacmias, D. Galimberti, 2015, Acta Neuropathologica.

Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion.

E. Rogaeva, J. Schymick, M. Ghani, 2013, American journal of human genetics.

A novel peripherin isoform generated by alternative translation is required for normal filament network formation

J. Robertson, S. Xiao, J. McLean, 2008, Journal of neurochemistry.

DNA methylation age-acceleration is associated with disease duration and age at onset in C9orf72 patients

E. Rogaeva, M. Tartaglia, C. Sato, 2017, Acta Neuropathologica.

Genetic and epigenetic study of ALS-discordant identical twins with double mutations in SOD1 and ARHGEF28

E. Rogaeva, A. Petronis, M. Ghani, 2016, Journal of Neurology, Neurosurgery & Psychiatry.

The E3 ubiquitin ligase TRAF6 is a novel interacting protein of amyotrophic lateral sclerosis-linked misfolded SOD1

Thomas M. Durcan, H. McBride, E. Meiering, 2019, bioRxiv.

TNF receptor–associated factor 6 interacts with ALS-linked misfolded superoxide dismutase 1 and promotes aggregation

Thomas M. Durcan, H. McBride, E. Meiering, 2020, The Journal of Biological Chemistry.

Mechanisms Associated with TDP-43 Neurotoxicity in ALS/FTLD.

A. Weichert, J. Robertson, Ashley B. Zhang, 2018, Advances in neurobiology.

Isoform-specific expression and ratio changes accompany oxidant-induced peripherin aggregation in a neuroblastoma cell line

J. Robertson, J. McLean, 2011, Brain Research.

A complex of C9ORF72 and p62 uses arginine methylation to eliminate stress granules by autophagy

Gareth A. Palidwor, J. Côté, E. Rogaeva, 2018, Nature Communications.

Loss of C9orf72 perturbs the Ran-GTPase gradient and nucleocytoplasmic transport, generating compositionally diverse Importin β-1 granules.

Thomas M. Durcan, J. Robertson, P. McGoldrick, 2023, Cell reports.

Amyloidogenic α-synuclein seeds do not invariably induce rapid, widespread pathology in mice

T. Golde, B. Giasson, C. Ceballos‐Diaz, 2014, Acta Neuropathologica.

The Role of RNA and RNA Processing in Neurodegeneration

C. Thornton, J. Gallo, W. Schlaepfer, 2005, The Journal of Neuroscience.

Investigation of c9orf72 in 4 neurodegenerative disorders.

P. S. St George-Hyslop, R. Mayeux, L. Hazrati, 2012, Archives of neurology.

Apoptotic death of neurons exhibiting peripherin aggregates is mediated by the proinflammatory cytokine tumor necrosis factor-α

J. Julien, J. Beaulieu, H. Durham, 2001, The Journal of cell biology.

ALSUntangled No. 16: Cannabis

R. Conwit, J. Licht, P. Andersen, 2012, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Mutually exclusive expression of βIII‐tubulin and vimentin in adrenal cortex carcinoma SW13 cells

J. Gallo, J. Robertson, R. Butler, 2000, FEBS letters.

Neurofilament Monoclonal Antibodies RT97 and 8D8 Recognize Different Modified Epitopes in Paired Helical Filament‐τ in Alzheimer's Disease

J. Brion, J. Robertson, B. Anderton, 1993, Journal of neurochemistry.

Inhibition of p38 mitogen-activated protein kinase interferes with cell shape changes and gene expression associated with Schwann cell myelination

G. Almazan, J. Robertson, W. Mushynski, 2003, Experimental Neurology.

Physiologically Important Electrolytes as Regulators of TDP-43 Aggregation and Droplet-Phase Behavior.

R. Vernon, A. Chakrabartty, J. Robertson, 2018, Biochemistry.

A mechanism for low penetrance in an ALS family with a novel SOD1 deletion

E. Rogaeva, C. Sato, L. Zinman, 2009, Neurology.

C9orf72 isoforms in Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration

E. Rogaeva, L. Zinman, P. McKeever, 2016, Brain Research.