C. Vance

发表

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1

Ewout J. N. Groen, J. Haines, M. Pericak-Vance, 2013, Neurobiology of Aging.

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

Robert H. Brown, M. Weale, F. Baas, 2017, Science Translational Medicine.

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

Xun Hu, Kelly L. Williams, Christopher E. Shaw, 2009, Science.

Wild type human TDP-43 potentiates ALS-linked mutant TDP-43 driven progressive motor and cortical neuron degeneration with pathological features of ALS

T. Hortobágyi, C. Shaw, C. Vance, 2015, Acta neuropathologica communications.

Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion

T. Hortobágyi, C. Shaw, Bradley N Smith, 2012, Acta Neuropathologica.

An MND/ALS phenotype associated with C9orf72 repeat expansion: Abundant p62‐positive, TDP‐43‐negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline

T. Hortobágyi, A. Al-Chalabi, C. Shaw, 2012, Neuropathology : official journal of the Japanese Society of Neuropathology.

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1

Carl D Langefeld, Aleksey Shatunov, Gabriele Mora, 2013, Neurobiology of Aging.

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

A. Farmer, P. McGuffin, C. Lewis, 2010, The Lancet Neurology.

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

A. Farmer, P. McGuffin, C. Lewis, 2010, The Lancet Neurology.

Uptake of neurotransmitters by clonal lines of astrocytoma and neuroblastoma in culture. I. Transport of γ-aminobutyric acid

C. Vance, B. Haber, H. Hutchison, 1974 .

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Annelot M. Dekker, Robert H. Brown, F. Baas, 2016, Nature Genetics.

Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia

A. Al-Chalabi, C. Shaw, C. Troakes, 2019, Neurobiology of Aging.

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Timothy A. Miller, Jennifer E. Phillips-Cremins, Lilah M. Besser, 2020, Neuron.

The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis

C. Shaw, Jack W Miller, C. Vance, 2016, Brain : a journal of neurology.

Genetic analysis of amyotrophic lateral sclerosis in the Slovenian population

C. Shaw, Bradley N Smith, C. Vance, 2015, Neurobiology of Aging.

ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules

T. Hortobágyi, C. Shaw, C. Troakes, 2013, Human molecular genetics.

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS

Robert H. Brown, A. Al-Chalabi, C. Shaw, 2015, Neurobiology of Aging.

Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic

J. Ule, C. Shaw, C. Troakes, 2013, Cell reports.

No association of the SOD1 locus and disease susceptibility or phenotype in sporadic ALS

J. Powell, A. Al-Chalabi, C. Shaw, 2004, Neurology.

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

Robert H. Brown, F. Baas, A. Al-Chalabi, 2018, Neurobiology of Aging.

Mutations in ANXA11 cause familial and sporadic amyotrophic lateral sclerosis

F. Baas, J. Belleroche, A. Al-Chalabi, 2017 .

Title: Mutations in ANXA11 cause familial and sporadic amyotrophic lateral sclerosis

Robert H. Brown, M. Weale, F. Baas, 2016 .

Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders

T. Hortobágyi, C. Shaw, C. Troakes, 2011, Acta Neuropathologica.

Review: Modelling the pathology and behaviour of frontotemporal dementia

C. Vance, D. A. Solomon, S. Mizielinska, 2019, Neuropathology and applied neurobiology.

ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation

C. Shaw, C. Troakes, S. Al-Sarraj, 2015, Acta Neuropathologica Communications.

Erratum: Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development (Neuron (2017) 94(2) (322–336.e5)(S0896627317302386)(10.1016/j.neuron.2017.03.026))

W. Talbot, C. Shaw, S. Topp, 2017 .

Title: Mutations in ANXA11 cause familial and sporadic amyotrophic lateral sclerosis

Robert H. Brown, M. Weale, F. Baas, 2016 .

THEME 4 IN VIVO EXPERIMENTAL MODELS IVV-01 Investigating TDP-43 in the cerebellum of non-transgenic and TDP-43 mouse models throughout aging

C. Vance, T. Baldacchino, L. Piedrafita, 2022 .

Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase

C. Shaw, C. Vance, M. Falchi, 2010, Proceedings of the National Academy of Sciences.

Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra‐familial variability in age of onset and complex phenotype

A. Berardelli, C. Vance, T. Warner, 2009, Clinical genetics.

C9ORF72 and UBQLN2 mutations are causes of amyotrophic lateral sclerosis in New Zealand: a genetic and pathologic study using banked human brain tissue

C. Shaw, C. Vance, M. Dragunow, 2017, Neurobiology of Aging.

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

Sonja W. Scholz, Hannah A. Pliner, Janel O. Johnson, 2021, JAMA neurology.

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

Timothy A. Miller, Sonja W. Scholz, Jennifer E. Phillips-Cremins, 2020, Neuron.

Identification of a novel interaction of FUS and syntaphilin may explain synaptic and mitochondrial abnormalities caused by ALS mutations

Nikolas Nikolaou, C. Vance, Jacqueline C Mitchell, 2021, Scientific Reports.

Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene

C. Shaw, Jack W Miller, S. Topp, 2014, Amyotrophic lateral sclerosis & frontotemporal degeneration.

and are genetic causes of ALS in New Zealand: A genetic and pathological study using banked human brain tissue

C. Vance, M. Dragunow, M. Curtis, 2016 .

and are genetic causes of ALS in New Zealand: A genetic and pathological study using banked human brain tissue

Curtis, C. Shaw, C. Vance, 2016 .

CHMP2B mutations are not a common cause of familial or sporadic amyotrophic lateral sclerosis

C. Shaw, C. Vance, K. Williams, 2008, Journal of Neurology, Neurosurgery, and Psychiatry.

Altered SOD1 maturation and post-translational modification in amyotrophic lateral sclerosis spinal cord

Melanie Y. White, D. Paterson, R. Ortega, 2022, Brain : a journal of neurology.

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

W. Talbot, C. Shaw, S. Topp, 2017, Neuron.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene in and for Therapeutic

Timothy A. Miller, Denis C. Bauer, Shankaracharya, 2018 .

Co-deposition of SOD1, TDP-43 and p62 proteinopathies in ALS: evidence for multifaceted pathways underlying neurodegeneration

C. Shaw, C. Troakes, S. Al-Sarraj, 2022, Acta neuropathologica communications.

Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species

D. Rubinsztein, C. Shaw, C. Vance, 2014, Journal of Cell Science.

Genome-wide Analyses Id entify KIF 5 A as a Novel ALS Gene Highlights

Sonja W. Scholz, Janel O. Johnson, D. Hernandez, 2018 .

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

Xun Hu, Kelly L. Williams, Christopher E. Shaw, 2008, Science.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Annelot M. Dekker, Robert H. Brown, F. Baas, 2016, Nature Genetics.

Novel Mutations in TARDBP (TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis

D. Geschwind, L. Petrucelli, R. Petersen, 2008, PLoS genetics.

Antisense oligonucleotide therapies for Amyotrophic Lateral Sclerosis: Existing and emerging targets.

C. Vance, Emma L. Scotter, Joseph R. Klim, 2019, The international journal of biochemistry & cell biology.

Mitochondrial abnormalities and disruption of the neuromuscular junction precede the clinical phenotype and motor neuron loss in hFUSWT transgenic mice

C. Shaw, C. Vance, E. So, 2017, Human molecular genetics.

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

W. Talbot, C. Shaw, S. Topp, 2017, Neuron.

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Robert H. Brown, R. Petersen, B. Boeve, 2016, Nature Communications.

Transportin 1 colocalization with Fused in Sarcoma (FUS) inclusions is not characteristic for amyotrophic lateral sclerosis‐FUS confirming disrupted nuclear import of mutant FUS and distinguishing it from frontotemporal lobar degeneration with FUS inclusions

T. Hortobágyi, C. Troakes, S. Al-Sarraj, 2013, Neuropathology and applied neurobiology.

Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis

Robert H. Brown, D. A. Bosco, C. Shaw, 2011, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.

F. Baas, D. Troost, A. Al-Chalabi, 2006, Brain : a journal of neurology.

Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q.

C. Lewis, F. Baas, J. Powell, 2003, American journal of human genetics.

Granule Localization of Glutaminase in Human Neutrophils and the Consequence of Glutamine Utilization for Neutrophil Activity*

C. Vance, L. Castell, P. Eggleton, 2004, Journal of Biological Chemistry.

Amyotrophic lateral sclerosis-like superoxide dismutase 1 proteinopathy is associated with neuronal loss in Parkinson’s disease brain

R. Ortega, P. Sachdev, C. Shaw, 2017, Acta Neuropathologica.

Expanded G4C2 repeats linked to C9ORF72 ALS and FTD form length-dependent RNA foci, sequester RNA binding proteins and are neurotoxic

C. Shaw, C. Troakes, C. Vance, 2013, Molecular Neurodegeneration.

The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder

Michelle K. Lupton, T. Hortobágyi, Robert H. Brown, 2012, European Journal of Human Genetics.

The effect of valproic acid on plasma carnitine levels.

C. Vance, G. Opala, H. Hutchison, 1991, American journal of diseases of children.

Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients

A. Al-Chalabi, C. Shaw, S. Topp, 2012, Neurobiology of Aging.

Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients

S. Newhouse, A. Al-Chalabi, C. Shaw, 2012, Neurobiology of Aging.

UvA-DARE ( Digital Academic Repository ) Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome

C. Lewis, F. Baas, J. Powell, 2017 .

The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients

J. Belleroche, A. Al-Chalabi, C. Shaw, 2015, Neurobiology of Aging.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Annelot M. Dekker, Ashley R. Jones, F. Baas, 2016, Nature Genetics.

Theme 04 - IN VIVO EXPERIMETAL MODELS

C. Vance, T. Baldacchino, L. Piedrafita, 2021, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

Hannah A. Pliner, John D. Eicher, Janel O. Johnson, 2021, JAMA Neurology.

Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders

T. Hortobágyi, C. Troakes, S. Al-Sarraj, 2011, Acta Neuropathologica.

An MND/ALS phenotype associated with C9orf72 repeat expansion: Abundant p62‐positive, TDP‐43‐negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline

T. Hortobágyi, A. Al-Chalabi, C. Troakes, 2012, Neuropathology : official journal of the Japanese Society of Neuropathology.