B. Traynor

E. Beghi, A. Chiò, O. Hardiman, 2010, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis

A. Chiò, B. Traynor, A. Calvo, 2022, Neurology: Genetics.

G507D mutation in FUS gene causes familial amyotrophic lateral sclerosis with a specific genotype-phenotype correlation

A. Chiò, B. Traynor, C. Gellera, 2022, Neurobiology of Aging.

A de novo nonsense mutation of the FUS gene in an apparently familial ALS case

A. Chiò, B. Traynor, A. Calvo, 2014 .

ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations

P. Tacconi, F. Marrosu, A. Chiò, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation

A. Chiò, G. Mora, B. Traynor, 2009, Neurobiology of Aging.

A small deletion in C9orf72 hides a proportion of expansion carriers in FTLD

Janel O. Johnson, D. Mann, S. Mead, 2015, Neurobiology of Aging.

Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion

J. Hardy, B. Traynor, J. Rohrer, 2012, Neurobiology of Aging.

The additive effect of genetic modifiers on ALS prognosis: a population-based study

C. Dalgård, A. Chiò, B. Traynor, 2022, medRxiv.

High frequency of C9orf72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis patients from two founder populations sharing the same risk haplotype

B. Traynor, V. Drory, A. Orr-Urtreger, 2017, Neurobiology of Aging.

Searching for Grendel: origin and global spread of the C9ORF72 repeat expansion

Hannah A. Pliner, D. Mann, B. Traynor, 2014, Acta Neuropathologica.

Models of care for motor neuron disease: setting standards

O. Hardiman, B. Traynor, B. Corr, 2002, Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases.

To Dement or Not to Dement, That Is the Question.

B. Traynor, Yevgeniya A Abramzon, Yevgeniya A. Abramzon, 2016, JAMA neurology.

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Sonja W. Scholz, Janel O. Johnson, D. Hernandez, 2010, Neuron.

A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD

A. Chiò, B. Traynor, A. Calvo, 2011, Neurobiology of Aging.

Exploring the phenotype of Italian patients with ALS with intermediate ATXN2 polyQ repeats

A. Chiò, G. Mora, B. Traynor, 2022, Journal of Neurology, Neurosurgery, and Psychiatry.

CHCH10 mutations in an Italian cohort of familial and sporadic ALS patients

Marcella, Lunetta, Salvi, 2015 .

Frontal temporal dementia: dissecting the aetiology and pathogenesis.

J. Hardy, B. Traynor, P. Momeni, 2006, Brain : a journal of neurology.

Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype?

F. Marrosu, A. Chiò, B. Traynor, 2012, Journal of Neurology.

Special Issue on amyotrophic lateral sclerosis

B. Traynor, D. Cleveland, 2014, Experimental Neurology.

Prognostic relationship of neurofilaments, CHIT1, YKL-40 and MCP-1 in amyotrophic lateral sclerosis

B. Traynor, P. van Damme, M. Floeter, 2021, Journal of Neurology, Neurosurgery, and Psychiatry.

The neurology of varicella-zoster virus: a historical perspective.

B. Traynor, R. Nogueira, 2004, Archives of neurology.

Neuroprotective agents for clinical trials in ALS: a systematic assessment.

R. Conwit, L. Bruijn, B. Traynor, 2006, Neurology.

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

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

Cumulative genetic risk and C9orf72 repeat status independently associate with ALS status in two case-control studies

Stephen A. Goutman, J. Hoenicka, B. Traynor, 2022, medRxiv.

Generation of two induced pluripotent stem cell (iPSC) lines from an ALS patient with simultaneous mutations in KIF5A and MATR3 genes

B. Traynor, R. Bowser, E. Pioro, 2020, Stem cell research.

Identification of a pathogenic intronic KIF5A mutation in an ALS-FTD kindred

M. Wilkerson, A. Chiò, B. Traynor, 2020, Neurology.

Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS

Robert H. Brown, L. Petrucelli, B. Boeve, 2014, Neuron.

Large-scale Rare Variant Burden Testing in Parkinson's Disease Identifies Novel Associations with Genes Involved in Neuro-inflammation

Sonja W. Scholz, Chelsea X Alvarado, Chelsea X. Alvarado, 2022, medRxiv.

Reply to Zhu et al.: Implications of CHRNB1 and ERBB2 in the pathobiology of myasthenia gravis

B. Traynor, S. Sáez-Atienzar, D. Drachman, 2022, Proceedings of the National Academy of Sciences of the United States of America.

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

Sonja W. Scholz, Lilah M. Besser, Alan J. Thomas, 2021, Nature Genetics.

Use of Genetic Testing in Amyotrophic Lateral Sclerosis by Neurologists

A. Chiò, B. Traynor, Karissa C. Arthur, 2017, JAMA neurology.

Expanding the genetics of amyotrophic lateral sclerosis and frontotemporal dementia

B. Traynor, J. Schymick, Jennifer Schymick, 2012, Alzheimer's Research & Therapy.

SNCA variants are associated with increased risk for multiple system atrophy

Sonja W. Scholz, M. T. Pellecchia, A. Singleton, 2009, Annals of neurology.

Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar‐onset neuropathy

Janel O. Johnson, B. Traynor, G. Hawkins, 2017, Muscle & nerve.

The Neurology of Varicella-Zoster Virus

B. Traynor, R. Nogueira, 2016 .

Unraveling the complex interplay between genes, environment, and climate in ALS

A. Chiò, B. Traynor, Ruth Chia, 2021, EBioMedicine.

The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

B. Traynor, Ruth Chia, P. Fratta, 2020, Frontiers in Neuroscience.

Gene-Environment-Time Interactions in Neurodegenerative Diseases: Hypotheses and Research Approaches

A. Chiò, B. Traynor, A. Andrew, 2018, Annals of Neurosciences.

Descriptive epidemiology of amyotrophic lateral sclerosis: new evidence and unsolved issues

E. Beghi, G. Logroscino, A. Chiò, 2007, Journal of Neurology, Neurosurgery, and Psychiatry.

Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.

Janel O. Johnson, R. Finkel, M. Devoto, 2015, JAMA neurology.

Genetic causes of amyotrophic lateral sclerosis: New genetic analysis methodologies entailing new opportunities and challenges

B. Traynor, G. Marangi, 2015, Brain Research.

A de novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case

A. Chiò, B. Traynor, A. Calvo, 2014, Neurobiology of Aging.

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Ewout J. N. Groen, Annelot M. Dekker, Ross P. Byrne, 2021, Nature Genetics.

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

Ahmad Al Khleifat, M. Nalls, M. Daly, 2019, Nature Neuroscience.

Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients

M. Nalls, M. Daly, D. Goldstein, 2018, bioRxiv.

Abundant Quantitative Trait Loci Exist for DNA Methylation and Gene Expression in Human Brain

Luigi Ferrucci, Allissa Dillman, Bryan J. Traynor, 2010, PLoS genetics.

Age-associated changes in gene expression in human brain and isolated neurons

Allissa Dillman, Bryan J. Traynor, Robert Walker, 2013, Neurobiology of Aging.

Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer’s disease

M. Nalls, J. Hardy, R. Guerreiro, 2009, neurogenetics.

No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis.

R. Ophoff, A. Goris, S. Sawcer, 2014, Human molecular genetics.

Genome-wide meta-analysis identifies new susceptibility loci for migraine

Thomas Meitinger, Dorret I. Boomsma, M. Arfan Ikram, 2013, Nature Genetics.

State of play in amyotrophic lateral sclerosis genetics

Adriano Chiò, A. Chiò, B. Traynor, 2013, Nature Neuroscience.

RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention

Nipun A. Mistry, L. Petrucelli, B. Traynor, 2013, Neuron.

Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.

Janel O. Johnson, K. Fischbeck, C. Blackstone, 2015, JAMA neurology.

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.

G. Comi, S. Corti, V. Moskvina, 2014, Human molecular genetics.

A genome-wide association meta-analysis identifies a novel locus at 17 q 11 . 2 associated with sporadic amyotrophic lateral sclerosis

Aleksey, Davide, Moskvina, 2014 .

Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly

Martin W. Breuss, B. Traynor, J. Gleeson, 2019, Journal of Medical Genetics.

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases

Sonja W. Scholz, Janel O. Johnson, D. Hernandez, 2012, Neurology.

Prion-like domain mutations in hnRNPs cause multisystem proteinopathy and ALS

Michael Benatar, Steven A Greenberg, Aaron D Gitler, 2013, Nature.

Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications

A. Chiò, B. Traynor, R. Chia, 2018, The Lancet Neurology.

The NGS technology for the identification of genes associated with the ALS. A systematic review

A. Chiò, B. Traynor, C. Carone, 2020, European journal of clinical investigation.

Homozygosity analysis in amyotrophic lateral sclerosis

M. Nalls, T. Peuralinna, J. Hardy, 2013, European Journal of Human Genetics.

FUS mutations in sporadic amyotrophic lateral sclerosis

D. Stephan, M. Cookson, T. Dunckley, 2011, Neurobiology of Aging.

A de novo missense mutation of the FUS gene in a “true” sporadic ALS case

A. Chiò, B. Traynor, A. Calvo, 2011, Neurobiology of Aging.

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Patrizia Sola, Joanne Wuu, Michael Benatar, 2011, Neuron.

Towards a complete resolution of the genetic architecture of disease.

A. Singleton, J. Hardy, B. Traynor, 2010, Trends in genetics : TIG.

Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types

M. Nalls, M. Cookson, A. Chiò, 2020, Science Advances.

The RNA-binding motif 45 (RBM45) protein accumulates in inclusion bodies in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) patients

B. Traynor, T. Conrads, R. Bowser, 2012, Acta Neuropathologica.

A genome-wide association study of myasthenia gravis.

Michael Benatar, Sonja W. Scholz, Adriano Chiò, 2015, JAMA neurology.

Edinburgh Research Explorer Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain

Allissa Dillman, John Hardy, Michael E. Weale, 2022 .

Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients

Janel O. Johnson, D. Hernandez, M. Nalls, 2010, Proceedings of the National Academy of Sciences.

Distinct DNA methylation changes highly correlated with chronological age in the human brain.

Mark R Cookson, Andrew B Singleton, D. Hernandez, 2011, Human molecular genetics.

Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.

Janel O. Johnson, B. Traynor, C. Lutz, 2020, The Journal of clinical investigation.

Dominant mutations of the Notch ligand Jagged1

Janel O. Johnson, B. Traynor, C. Lutz, 2020 .

Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study

C. Blauwendraat, A. Chiò, B. Traynor, 2022, Proceedings of the National Academy of Sciences.

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Ewout J. N. Groen, Annelot M. Dekker, Ross P. Byrne, 2021, Nature Genetics.

Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene.

Janel O. Johnson, D. Hernandez, M. Nalls, 2011, Archives of neurology.

The epidemiology and treatment of ALS: Focus on the heterogeneity of the disease and critical appraisal of therapeutic trials

Adriano Chiò, Bryan J. Traynor, Giancarlo Logroscino, 2011, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Defective cyclophilin A induces TDP-43 proteinopathy: implications for amyotrophic lateral sclerosis and frontotemporal dementia

A. Chiò, G. Mora, B. Traynor, 2020, bioRxiv.

Amyotrophic lateral sclerosis mimic syndromes: a population-based study.

O. Hardiman, B. Traynor, B. Corr, 2000, Archives of neurology.

A. Chiò, B. Traynor, Karissa C. Arthur, 2017, Scientific Reports.

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Janel O. Johnson, D. Hernandez, M. Nalls, 2012, The Lancet Neurology.

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

P. Holmans, S. Tabrizi, A. Durr, 2016, Annals of neurology.

Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study

David Heckerman, Sonja W. Scholz, D. Heckerman, 2010, The Lancet Neurology.

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Lorne Zinman, Adriano Chiò, Richard W. Orrell, 2014, Nature Neuroscience.

Genome-wide association study of neocortical Lewy-related pathology

M. Nalls, A. Singleton, A. Paetau, 2015, Annals of clinical and translational neurology.

Emerging disease-modifying therapies for the treatment of motor neuron disease/amyotropic lateral sclerosis

B. Traynor, M. Cudkowicz, R. Bedlack, 2007, Expert opinion on emerging drugs.

Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study

Sonja W. Scholz, C. Blauwendraat, M. Cookson, 2020, The Lancet Neurology.

Major Genetic Variants and Clinical Characteristics of Patients With and Without the C9orf72 Hexanucleotide Repeat Expansion

B. Traynor, P. Tienari, H. Laaksovirta, 2022 .

Repeat expansion in C9ORF72 in Alzheimer's disease.

A. Singleton, J. Hardy, S. Bassett, 2012, The New England journal of medicine.

The chromosome 9 ALS and FTD locus is probably derived from a single founder

M. Nalls, T. Peuralinna, J. Hardy, 2012, Neurobiology of Aging.

Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12

Janel O. Johnson, K. Fischbeck, C. Blackstone, 2013, Human mutation.

APOE and AβPP gene variation in cortical and cerebrovascular amyloid-β pathology and Alzheimer's disease: a population-based analysis.

D. Hernandez, A. Singleton, A. Paetau, 2011, Journal of Alzheimer's disease : JAD.

A candidate gene for autoimmune myasthenia gravis

Janel O. Johnson, D. Hernandez, K. Fischbeck, 2012, Neurology.

Poly(Gp) Proteins Are A Useful Pharmacodynamic Marker For C9Orf72-Associated Amyotrophic Lateral Sclerosis

William T. Hu, Robert H. Brown, L. Petrucelli, 2017 .

A common haplotype within the PON1 promoter region is associated with sporadic ALS

Robert H. Brown, A. Al-Chalabi, C. Shaw, 2008, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function.

Shankaracharya, J. Landers, B. Traynor, 2022, Cell reports.

A genome-wide association study in multiple system atrophy

Sonja W. Scholz, M. T. Pellecchia, M. Nalls, 2016, Neurology.

Common polymorphisms of chemokine (C‐X3‐C motif) receptor 1 gene modify amyotrophic lateral sclerosis outcome: A population‐based study

A. Chiò, G. Mora, B. Traynor, 2018, Muscle & nerve.

Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation

Sonja W. Scholz, Mark J. P. Chaisson, Karen H. Miga, 2023, Nature Methods.

Genetic comorbidities in Parkinson's disease.

Mohamad Saad, Anette Schrag, Thomas Gasser, 2014, Human molecular genetics.

Cis-Regulatory Variants Affect CHRNA5 mRNA Expression in Populations of African and European Ancestry

L. Bierut, A. Goate, J. Budde, 2013, PloS one.

OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes

B. Traynor, V. Drory, A. Renton, 2016, Neurology.

Disease progression in C9orf72 mutation carriers

B. Traynor, M. Floeter, Tianxia Wu, 2017, Neurology.

Cortical hyperexcitability in patients with C9ORF72 mutations: Relationship to phenotype

B. Traynor, M. Floeter, T. Lehky, 2016, Muscle & nerve.

The metabolic signature of C9ORF72-related ALS: FDG PET comparison with nonmutated patients

A. Chiò, B. Traynor, F. Nobili, 2014, European Journal of Nuclear Medicine and Molecular Imaging.

Frontotemporal dementia with a C9ORF72 expansion in a Swedish family: clinical and neuropathological characteristics.

B. Traynor, E. Englund, U. Passant, 2013, American journal of neurodegenerative disease.

Clinical Characteristics of C9ORF72-Linked Frontotemporal Lobar Degeneration

B. Traynor, A. Renton, M. Bode, 2013, Dementia and Geriatric Cognitive Disorders Extra.

C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: A genome‐wide meta‐analysis

A. Hofman, A. Uitterlinden, Robert H. Brown, 2014, Annals of neurology.

Oncology: haematopoietic growth factors.

B. Traynor, 1991, Nursing standard (Royal College of Nursing (Great Britain) : 1987).

A novel candidate region for ALS on chromosome 14q11.2

S. Ennis, O. Hardiman, B. Traynor, 2004, Neurology.

The Era of Genomic Epidemiology

B. Traynor, 2009, Neuroepidemiology.

Suppression of MMP-9 by doxycycline in brain arteriovenous malformations

A. Singleton, D. Holtzman, J. Grafman, 2004, BMC neurology.

Genetics of sporadic amyotrophic lateral sclerosis.

B. Traynor, J. Schymick, K. Talbot, 2007, Human molecular genetics.

Effect of a multidisciplinary amyotrophic lateral sclerosis (ALS) clinic on ALS survival: a population based study, 1996–2000

O. Hardiman, B. Traynor, M. Alexander, 2003, Journal of neurology, neurosurgery, and psychiatry.

Cognitive Decline in Presymptomatic Alzheimer Disease

K. Gwinn‐Hardy, B. Traynor, A. Singleton, 2016 .

Genetic variants associated with physical performance and anthropometry in old age: a genome-wide association study in the ilSIRENTE cohort

D. Heckerman, D. Hernandez, M. Nalls, 2017, Scientific Reports.

The NIH C9ORF72 ALS-FTD Clinic: Recruitment and Early Enrollment Experience

B. Traynor, M. Floeter, E. Wiggs, 2014 .

NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases

Nicholas Eriksson, Margaret Sutherland, Mohamad Saad, 2015, Neurobiology of Aging.

C9orf72 hexanucleotide repeat expansions are not a common cause of obsessive-compulsive disorder

B. Traynor, G. Nestadt, B. Maher, 2017, Journal of the Neurological Sciences.

Exploring the epigenetics of Alzheimer disease.

B. Traynor, A. Renton, 2015, JAMA neurology.

Hippocampal sclerosis dementia with the C9ORF72 hexanucleotide repeat expansion

P. Rabins, B. Crain, B. Traynor, 2014, Neurobiology of Aging.

Incidence and prevalence of ALS in Ireland, 1995–1997

O. Hardiman, B. Traynor, B. Corr, 1999, Neurology.

Ethnic variation in the incidence of ALS

S. Cronin, O. Hardiman, B. Traynor, 2007, Neurology.

The epidemiology of ALS and the role of population-based registries.

E. Beghi, G. Logroscino, A. Chiò, 2006, Biochimica et biophysica acta.

Identifying potential risk factors for developing amyotrophic lateral sclerosis

A. Chiò, B. Traynor, 2011 .

Studies assessing the interaction between genetics and environment are strongly required and are likely to improve our understating on the possible causes and mechanisms of ALS. Practice Points Identifying potential risk factors for developing amyotrophic

A. Chiò, B. Traynor, 2011 .

Genome-wide analysis of the heritability of amyotrophic lateral sclerosis.

M. Nalls, A. Singleton, L. Ferrucci, 2014, JAMA neurology.

GroupICA dual regression analysis of resting state networks in a behavioral variant of frontotemporal dementia

Bryan J. Traynor, Alan E. Renton, Anne M. Remes, 2013, Front. Hum. Neurosci..

Investigating RFC1 expansions in sporadic amyotrophic lateral sclerosis

L. Ferrucci, B. Traynor, H. Houlden, 2021, Journal of the Neurological Sciences.

Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS

Peter K. Todd, Robert H. Brown, L. Petrucelli, 2014, Neuron.

Amyotrophic lateral sclerosis: translating genetic discoveries into therapies.

A. Chiò, J. Landers, B. Traynor, 2023, Nature reviews. Genetics.

ATXN2 intermediate expansions in amyotrophic lateral sclerosis.

J. Glass, J. Landers, B. Traynor, 2022, Brain : a journal of neurology.

Mendelian Randomization-A Journey From Obscurity to Center Stage With a Few Potholes Along the Way.

B. Traynor, S. Bandres-Ciga, A. Noyce, 2019, JAMA neurology.

Tdp-43 cryptic exons are highly variable between cell types

P. Wong, B. Traynor, T. Lloyd, 2017, Molecular Neurodegeneration.

“True” sporadic ALS associated with a novel SOD‐1 mutation

Orla Hardiman, O. Hardiman, B. Traynor, 2002, Annals of neurology.

Current and future directions in genomics of amyotrophic lateral sclerosis.

B. Traynor, J. Ravits, 2008, Physical medicine and rehabilitation clinics of North America.

A fluid biomarker reveals loss of TDP-43 splicing repression in pre-symptomatic ALS

P. Wong, B. Traynor, J. Berry, 2023, bioRxiv.

Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis

Sonja W. Scholz, Janel O. Johnson, A. Chiò, 2012, Neurobiology of Aging.

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

F. Marrosu, A. Chiò, G. Mora, 2012, Brain : a journal of neurology.

Melatonin receptor type 1A gene linked to Alzheimer’s disease in old age

T. Paunio, D. Stone, T. Peuralinna, 2018, Sleep.

Clinical features of amyotrophic lateral sclerosis according to the El Escorial and Airlie House diagnostic criteria: A population-based study.

O. Hardiman, B. Traynor, B. Corr, 2000, Archives of neurology.

Mutational analysis of the VCP gene in Parkinson's disease

A. Singleton, A. Chiò, B. Traynor, 2012, Neurobiology of Aging.

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

Sonja W. Scholz, D. Hernandez, M. Nalls, 2017, Neurobiology of Aging.

Large-scale pathway-specific polygenic risk, transcriptomic community networks and functional inferences in Parkinson disease

D. Hernandez, A. Singleton, Mary B Makarious, 2020, bioRxiv.

TDP-43 Is Not a Common Cause of Sporadic Amyotrophic Lateral Sclerosis

A. Singleton, J. Hardy, R. Guerreiro, 2008, PloS one.

An outcome study of riluzole in amyotrophic lateral sclerosis

Bryan J. Traynor, Orla Hardiman, O. Hardiman, 2003, Journal of Neurology.

Mutation analysis of the MS4A and TREM gene clusters in a case-control Alzheimer's disease data set

B. Traynor, E. Rogaeva, P. George-Hyslop, 2016, Neurobiology of Aging.

UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study

L. Ferrucci, A. Chiò, G. Mora, 2013, Neurobiology of Aging.

Genome-wide association reveals three SNPs associated with sporadic amyotrophic lateral sclerosis through a two-locus analysis

B. Traynor, J. Schymick, Shuanglin Zhang, 2009, BMC Medical Genetics.

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

Ahmad Al Khleifat, M. Nalls, M. Daly, 2019, Nature Neuroscience.

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.

Sandra D'Alfonso, Adriano Chiò, Aleksey Shatunov, 2016, JAMA neurology.

HFE p.H63D polymorphism does not influence ALS phenotype and survival

Janel O. Johnson, M. Nalls, A. Chiò, 2015, Neurobiology of Aging.

A roadmap for genetic testing in ALS

B. Traynor, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

Prevalence of SOD1 mutations in the Italian ALS population

A. Chiò, B. Traynor, R. Mutani, 2008, Neurology.

Common variation at the LRRK2 locus is associated with survival in the primary tauopathy progressive supranuclear palsy

Sonja W. Scholz, M. Cookson, J. Hardy, 2020, bioRxiv.

C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism

B. Traynor, H. Morris, T. Lynch, 2012, Movement Disorders.

Reply: More than a co-incidence? Exploring the increased frequency of amyotrophic lateral sclerosis in Huntington disease

K. Marder, B. Traynor, J. Vonsattel, 2022, Acta Neuropathologica.

MUTATION ANALYSIS OF THE MS4A AND TREM GENE-CLUSTERS IN A CASE-CONTROL ALZHEIMER’S DISEASE DATASET

B. Traynor, E. Rogaeva, P. George-Hyslop, 2016, Alzheimer's & Dementia.

Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation

Sonja W. Scholz, Mark J. P. Chaisson, Karen H. Miga, 2023, bioRxiv.

Longitudinal imaging in C9orf72 mutation carriers: Relationship to phenotype

Laura E. Danielian, B. Traynor, M. Floeter, 2016, NeuroImage: Clinical.

Alzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+)

A. Singleton, A. Paetau, D. Stone, 2018, Neurology: Genetics.

Genome‐Wide Analysis of Structural Variants in Parkinson Disease

Ryan L. Collins, Sonja W. Scholz, Toshiko Tanaka, 2023, Annals of neurology.

Combined epigenetic/genetic study identified an ALS age of onset modifier

B. Traynor, E. Rogaeva, C. Sato, 2021, Acta neuropathologica communications.

Association of Copresence of Pathogenic Variants Related to Amyotrophic Lateral Sclerosis and Prognosis

A. Chiò, G. Mora, B. Traynor, 2023, Neurology.

Clinical and Metabolic Signature of UNC13A rs12608932 Variant in Amyotrophic Lateral Sclerosis

Sonja W. Scholz, A. Chiò, B. Traynor, 2022, Neurology: Genetics.

Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration

D. Neary, M. Rossor, N. Cairns, 2009, Neurobiology of Aging.

Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing

Simon C. Potter, Miguel Ángel Martínez, C. Spencer, 2017, Genome Biology.

Rapid communication Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration

D. Neary, M. Rossor, N. Cairns, 2009 .

Identifying and predicting amyotrophic lateral sclerosis clinical subgroups: a population-based machine-learning study.

M. Nalls, Anant Dadu, F. Faghri, 2022, The Lancet. Digital health.

Identification and prediction of ALS subgroups using machine learning

M. Nalls, R. Campbell, Anant Dadu, 2021, medRxiv.

Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population

Sonja W. Scholz, A. Chiò, B. Traynor, 2023, Brain : a journal of neurology.

Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort

Sonja W. Scholz, A. Chiò, B. Traynor, 2020, Neurology.

The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms

P. Tacconi, F. Marrosu, A. Chiò, 2013, neurogenetics.

CAMTA 1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

Aleksey, C. Lewis, S. Newhouse, 2018 .

Association of a Locus in the CAMTA 1 GeneWith Survival in PatientsWith Sporadic Amyotrophic Lateral Sclerosis

Adriano Chiò, Philip Van Damme, Aleksey Shatunov, 2016 .

Tdp-43 cryptic exons are highly variable between cell types

P. Wong, B. Traynor, T. Lloyd, 2017, Molecular Neurodegeneration.

TBK1 is associated with ALS and ALS-FTD in Sardinian patients

Hannah A. Pliner, A. Mulas, F. Marrosu, 2016, Neurobiology of Aging.

Nature meets nurture in amyotrophic lateral sclerosis

A. Chiò, B. Traynor, A. Calvo, 2021, The Lancet Neurology.

GBA variants influence cognitive status in amyotrophic lateral sclerosis

A. Chiò, B. Traynor, A. Calvo, 2021, Journal of Neurology, Neurosurgery, and Psychiatry.

The heterogeneity of amyotrophic lateral sclerosis: a possible explanation of treatment failure.

Adriano Chiò, Ammar Al-Chalabi, Ettore Beghi, 2007, Current medicinal chemistry.

Oligogenic basis of sporadic ALS

A. Paetau, D. Stone, J. Schleutker, 2019, Neurology: Genetics.

Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias

Ryan L. Collins, Sonja W. Scholz, Toshiko Tanaka, 2023, Cell genomics.

Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study

Ewout J. N. Groen, D. Rujescu, S. Corti, 2014, Neurobiology of Aging.

Transcriptomic profiling of the human brain reveals that altered synaptic gene expression is associated with chronological aging

D. Hernandez, A. Singleton, B. Traynor, 2017, Scientific Reports.

Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European Population

Sonja W. Scholz, Toshiko Tanaka, D. Hernandez, 2022, Movement Disorders.

AGenome-Wide Association Study ofMyasthenia Gravis

Sonja W. Scholz, Hannah A. Pliner, Janel O. Johnson, 2015 .

Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies

Stephen A. Goutman, B. Traynor, P. Pástor, 2023, Neurology: Genetics.

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Janel O. Johnson, D. Hernandez, M. Nalls, 2012, The Lancet Neurology.

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.

Simon C. Potter, Miguel Ángel Martínez, C. Spencer, 2016, American journal of human genetics.

Amyotrophic lateral sclerosis mimic syndromes: a population-based study.

O. Hardiman, B. Traynor, B. Corr, 2000, Archives of neurology.

Analysis of IFT 74 as a candidate gene for chromosome 9 p-linked ALS-FTD

D. Holtzman, J. Grafman, N. Cairns, 2015 .

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Janel O. Johnson, D. Hernandez, G. Schellenberg, 2012, The Lancet Neurology.

Melatonin receptor type 1A gene linked to Alzheimer’s disease in old age

Traynor, T. Paunio, D. Stone, 2018, Sleep.

Novel genetic loci associated with hippocampal volume

Thomas E. Nichols, Benjamin S. Aribisala, Amelia A. Assareh, 2017, Nature Communications.

Tau levels do not influence human ALS or motor neuron degeneration in the SOD1G93A mouse

A. Goris, B. Dubois, S. Boonen, 2010, Neurology.

Effect of referral bias on assessing survival in ALS

J. Stevens, E. Beghi, G. Logroscino, 2007, Neurology.

State of play in amyotrophic lateral sclerosis genetics

A. Chiò, B. Traynor, A. Renton, 2013, Nature Neuroscience.

Novel genetic loci underlying human intracranial volume identified through genome-wide association

Benjamin S. Aribisala, Nicola J. Armstrong, Amelia A. Assareh, 2016, Nature Neuroscience.

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Sonja W. Scholz, Janel O. Johnson, D. Hernandez, 2010, Neuron.

Dementia Research-A Roadmap for the Next Decade.

B. Traynor, R. Rademakers, 2017, JAMA neurology.

Dementia: a roadmap for the next decade

B. Traynor, R. Rademakers, 2018 .

Novel genetic loci associated with hippocampal volume

Benjamin S. Aribisala, Amelia A. Assareh, Lorna M. Lopez, 2017, Nature Communications.

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease.

D. Hernandez, M. Nalls, A. Singleton, 2013, Human molecular genetics.

C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: A genome‐wide meta‐analysis

P. D. Bakker, F. Rivadeneira, A. Al-Chalabi, 2014, Annals of neurology.

The epidemiology and treatment of ALS: Focus on the heterogeneity of the disease and critical appraisal of therapeutic trials

E. Beghi, A. Chiò, O. Hardiman, 2011, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications

A. Chiò, B. Traynor, Ruth Chia, 2018, The Lancet Neurology.

ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry

M. Nalls, F. Marrosu, A. Chiò, 2015, Neurobiology of Aging.

Amyotrophic lateral sclerosis and soccer: A different epidemiological approach strengthen the previous findings

E. Beghi, G. Logroscino, A. Chiò, 2008, Journal of the Neurological Sciences.

Genetic architecture of ALS in Sardinia

Hannah A. Pliner, M. Nalls, F. Marrosu, 2014, Neurobiology of Aging.

Cognitive determinants of decisional capacity in neurodegenerative disorders

Sonja W. Scholz, Laura E. Danielian, B. Traynor, 2023, Annals of clinical and translational neurology.

No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis.

R. Ophoff, A. Goris, S. Sawcer, 2014, Human molecular genetics.