Bryan J. Traynor

Q: What Schools Are Affiliated With Bryan J. Traynor

Bryan J. Traynor is affiliated with the following schools: University of California, Berkeley, Stanford University, Johns Hopkins University

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Bryan J. Traynor

Biology

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#12159

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Neuroscience

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#1791

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Biology

Why Is Bryan J. Traynor Influential?

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According to Wikipedia, Bryan J. Traynor is a neurologist and a senior investigator at the National Institute on Aging, and an adjunct professor at Johns Hopkins University. Dr. Traynor studies the genetics of human neurological conditions such as amyotrophic lateral sclerosis and frontotemporal dementia . He led the international consortium that identified pathogenic repeat expansions in the C9orf72 gene as a common cause of ALS and FTD. Dr. Traynor also led efforts that identified other Mendelian genes responsible for familial ALS and dementia, including VCP, MATR3, KIF5A, HTT, and SPTLC1.

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Bryan J. Traynor's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD (2011) (3746)
Genome-Wide Association Study reveals genetic risk underlying Parkinson’s disease (2009) (1770)
State of play in amyotrophic lateral sclerosis genetics (2013) (1315)
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS (2013) (1085)
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study (2012) (1007)
Genotype, haplotype and copy-number variation in worldwide human populations (2008) (866)
Abundant Quantitative Trait Loci Exist for DNA Methylation and Gene Expression in Human Brain (2010) (794)
Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS (2011) (763)
Common genetic variants influence human subcortical brain structures (2015) (731)
Incidence of amyotrophic lateral sclerosis in Europe (2009) (722)
RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention (2013) (693)
Global Epidemiology of Amyotrophic Lateral Sclerosis: A Systematic Review of the Published Literature (2013) (642)
Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS (2010) (548)
Controversies and priorities in amyotrophic lateral sclerosis (2013) (462)
The transcriptional landscape of age in human peripheral blood (2015) (450)
Effect of a multidisciplinary amyotrophic lateral sclerosis (ALS) clinic on ALS survival: a population based study, 1996–2000 (2003) (446)
Descriptive epidemiology of amyotrophic lateral sclerosis: new evidence and unsolved issues (2007) (420)
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene (2018) (414)
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis (2014) (404)
Clinical features of amyotrophic lateral sclerosis according to the El Escorial and Airlie House diagnostic criteria: A population-based study. (2000) (374)
Distinct DNA methylation changes highly correlated with chronological age in the human brain. (2011) (360)
Genome-wide meta-analysis identifies new susceptibility loci for migraine (2013) (336)
Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications (2018) (335)
Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. (2012) (288)
Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease (2017) (278)
Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study (2010) (278)
Projected increase in amyotrophic lateral sclerosis from 2015 to 2040 (2016) (272)
SNCA variants are associated with increased risk for multiple system atrophy (2009) (263)
Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS (2014) (262)
Prion-like domain mutations in hnRNPs cause multisystem proteinopathy and ALS (2013) (253)
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study (2010) (247)
Novel genetic loci associated with hippocampal volume (2017) (238)
Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data (2007) (233)
Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis (2008) (232)
Amyotrophic lateral sclerosis mimic syndromes: a population-based study. (2000) (211)
The epidemiology of ALS and the role of population-based registries. (2006) (208)
Incidence and prevalence of ALS in Ireland, 1995–1997 (1999) (204)
A genome-wide association study of sporadic ALS in a homogenous Irish population. (2007) (199)
A novel candidate region for ALS on chromosome 14q11.2 (2004) (199)
Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis (2017) (196)
Novel genetic loci underlying human intracranial volume identified through genome-wide association (2016) (192)
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. (2012) (191)
Epidemiology and clinical features of amyotrophic lateral sclerosis in Ireland between 1995 and 2004 (2007) (181)
Genetics of sporadic amyotrophic lateral sclerosis. (2007) (176)
DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases (2016) (172)
Repeat expansion in C9ORF72 in Alzheimer's disease. (2012) (171)
Tolerance of high-dose (3,000 mg/day) coenzyme Q10 in ALS (2005) (153)
An outcome study of riluzole in amyotrophic lateral sclerosis (2003) (149)
Genetic causes of amyotrophic lateral sclerosis: New genetic analysis methodologies entailing new opportunities and challenges (2015) (143)
Ethnic variation in the incidence of ALS (2007) (141)
The chromosome 9 ALS and FTD locus is probably derived from a single founder (2012) (139)
The epidemiology and treatment of ALS: Focus on the heterogeneity of the disease and critical appraisal of therapeutic trials (2011) (137)
Prevalence of SOD1 mutations in the Italian ALS population (2008) (136)
Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation (2009) (135)
A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. (2009) (133)
Amyotrophic lateral sclerosis, physical exercise, trauma and sports: Results of a population-based pilot case-control study (2010) (128)
Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain (2012) (126)
A genome-wide association study of myasthenia gravis. (2015) (124)
A genome-wide association study in multiple system atrophy (2016) (122)
Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis–frontotemporal dementia phenotypes (2006) (122)
Functional outcome measures as clinical trial endpoints in ALS (2004) (121)
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. (2014) (121)
The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia (2020) (120)
Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene. (2011) (116)
Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer’s disease (2009) (108)
“True” sporadic ALS associated with a novel SOD‐1 mutation (2002) (107)
NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases (2015) (104)
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (2021) (104)
FUS mutations in sporadic amyotrophic lateral sclerosis (2011) (103)
Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis. (2014) (103)
RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention (2013) (102)
Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1 (2013) (101)
Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis (2012) (100)
The metabolic signature of C9ORF72-related ALS: FDG PET comparison with nonmutated patients (2014) (100)
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture (2021) (99)
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis (2019) (98)
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis (2019) (98)
Mutation analysis of CHCHD10 in different neurodegenerative diseases. (2015) (98)
Extensive genetics of ALS (2012) (98)
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population (2012) (94)
Age-related penetrance of the C9orf72 repeat expansion (2017) (93)
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases (2017) (92)
Neuroprotective agents for clinical trials in ALS (2006) (87)
Towards a complete resolution of the genetic architecture of disease. (2010) (86)
Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing (2017) (85)
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein (2019) (80)
A de novo missense mutation of the FUS gene in a “true” sporadic ALS case (2011) (79)
Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD (2006) (79)
Genome-wide analysis of the heritability of amyotrophic lateral sclerosis. (2014) (76)
Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12 (2013) (72)
UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study (2013) (71)
TDP-43 Is Not a Common Cause of Sporadic Amyotrophic Lateral Sclerosis (2008) (71)
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 (2012) (69)
Genetic comorbidities in Parkinson's disease. (2014) (67)
GroupICA dual regression analysis of resting state networks in a behavioral variant of frontotemporal dementia (2013) (66)
ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations (2012) (64)
Genetic architecture of ALS in Sardinia (2014) (64)
Longitudinal imaging in C9orf72 mutation carriers: Relationship to phenotype (2016) (62)
Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis. (2016) (58)
Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion (2015) (57)
C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: A genome‐wide meta‐analysis (2014) (56)
The heterogeneity of amyotrophic lateral sclerosis: a possible explanation of treatment failure. (2007) (56)
Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations. (2010) (56)
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia. (2015) (54)
Age-associated changes in gene expression in human brain and isolated neurons (2013) (53)
Large C9orf72 repeat expansions are not a common cause of Parkinson's disease (2012) (51)
Large-scale pathway specific polygenic risk and transcriptomic community network analysis identifies novel functional pathways in Parkinson disease (2020) (51)
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients (2015) (50)
Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype? (2012) (50)
TBK1 is associated with ALS and ALS-FTD in Sardinian patients (2016) (48)
C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism (2012) (48)
A data-driven approach links microglia to pathology and prognosis in amyotrophic lateral sclerosis (2017) (48)
A common haplotype within the PON1 promoter region is associated with sporadic ALS (2008) (47)
Tdp-43 cryptic exons are highly variable between cell types (2017) (45)
Neuroprotective agents for clinical trials in ALS: a systematic assessment. (2006) (44)
Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients (2010) (42)
A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD (2011) (42)
Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study (2020) (42)
Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration (2009) (41)
Service provision for patients with ALS/MND: A cost-effective multidisciplinary approach (1998) (41)
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis (2020) (40)
Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS (2014) (39)
Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types (2020) (38)
Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases (2012) (38)
Nature versus Nurture: Death of a Dogma, and the Road Ahead (2010) (37)
Clinical Characteristics of C9ORF72-Linked Frontotemporal Lobar Degeneration (2013) (35)
The Phenotype of the C9ORF72 Expansion Carriers According to Revised Criteria for bvFTD (2015) (34)
Searching for Grendel: origin and global spread of the C9ORF72 repeat expansion (2014) (34)
Transcriptomic profiling of the human brain reveals that altered synaptic gene expression is associated with chronological aging (2017) (33)
The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms (2013) (33)
Hippocampal sclerosis dementia with the C9ORF72 hexanucleotide repeat expansion (2014) (32)
OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes (2016) (32)
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. (2015) (32)
Screening for C9orf72 repeat expansions in parkinsonian syndromes (2013) (31)
Mutational analysis of the VCP gene in Parkinson's disease (2012) (31)
Mutation analysis of the MS4A and TREM gene clusters in a case-control Alzheimer's disease data set (2016) (31)
Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family (2012) (31)
Disease progression in C9orf72 mutation carriers (2017) (29)
Emerging disease-modifying therapies for the treatment of motor neuron disease/amyotropic lateral sclerosis (2007) (29)
Gene-Environment-Time Interactions in Neurodegenerative Diseases: Hypotheses and Research Approaches (2018) (27)
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis (2021) (27)
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis (2021) (27)
C9orf72 and UNC13A are shared risk loci for ALS and FTD: A genome-wide meta-analysis (2014) (26)
No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis. (2014) (26)
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (2021) (26)
Cortical hyperexcitability in patients with C9ORF72 mutations: Relationship to phenotype (2016) (24)
A de novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case (2014) (24)
Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study (2014) (24)
Melatonin receptor type 1A gene linked to Alzheimer’s disease in old age (2018) (24)
C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten (2017) (24)
Novel TARDBP Sequence Variant and C9ORF72 Repeat Expansion in a Family With Frontotemporal Dementia (2014) (24)
Genome-wide association study of neocortical Lewy-related pathology (2015) (23)
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry (2015) (23)
Models of care for motor neuron disease: setting standards (2002) (23)
Frontotemporal dementia with a C9ORF72 expansion in a Swedish family: clinical and neuropathological characteristics. (2013) (22)
Motor neuron disease in 2014: Biomarkers for ALS—in search of the Promised Land (2015) (22)
A genome-wide association meta-analysis identifies a novel locus at 17 q 11 . 2 associated with sporadic amyotrophic lateral sclerosis (2014) (21)
Genome-wide association reveals three SNPs associated with sporadic amyotrophic lateral sclerosis through a two-locus analysis (2009) (20)
Mendelian Randomization-A Journey From Obscurity to Center Stage With a Few Potholes Along the Way. (2019) (20)
A candidate gene for autoimmune myasthenia gravis (2012) (20)
Unraveling the complex interplay between genes, environment, and climate in ALS (2021) (20)
ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function. (2022) (20)
Common polymorphisms of chemokine (C‐X3‐C motif) receptor 1 gene modify amyotrophic lateral sclerosis outcome: A population‐based study (2018) (20)
A small deletion in C9orf72 hides a proportion of expansion carriers in FTLD (2015) (20)
APOE and AβPP gene variation in cortical and cerebrovascular amyloid-β pathology and Alzheimer's disease: a population-based analysis. (2011) (19)
Amyotrophic lateral sclerosis and soccer: A different epidemiological approach strengthen the previous findings (2008) (19)
Cis-Regulatory Variants Affect CHRNA5 mRNA Expression in Populations of African and European Ancestry (2013) (18)
Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort (2020) (18)
No major progranulin genetic variability contribution to disease etiopathogenesis in an ALS Italian cohort (2011) (17)
Alzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+) (2018) (17)
Amyotrophic Lateral Sclerosis: An Emerging Era of Collaborative Gene Discovery (2007) (16)
Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study (2022) (15)
Homozygosity analysis in amyotrophic lateral sclerosis (2013) (14)
Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion (2012) (14)
Exploring the epigenetics of Alzheimer disease. (2015) (14)
Use of Genetic Testing in Amyotrophic Lateral Sclerosis by Neurologists (2017) (13)
The Era of Genomic Epidemiology (2009) (13)
Genetic variants associated with physical performance and anthropometry in old age: a genome-wide association study in the ilSIRENTE cohort (2017) (13)
C9orf72 hexanucleotide repeat length in older population: normal variation and effects on cognition (2019) (13)
Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy. (2020) (12)
High frequency of C9orf72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis patients from two founder populations sharing the same risk haplotype (2017) (11)
Identification of a pathogenic intronic KIF5A mutation in an ALS-FTD kindred (2020) (11)
The NGS technology for the identification of genes associated with the ALS. A systematic review (2020) (10)
High BMI is associated with low ALS risk (2019) (10)
Epidemiological evidence for a hereditary contribution to myasthenia gravis: a retrospective cohort study of patients from North America (2020) (9)
Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis (2012) (9)
HFE p.H63D polymorphism does not influence ALS phenotype and survival (2015) (9)
Amyotrophic Lateral Sclerosis – Frontotemporal Lobar Dementia in 3 Families With p . Ala 382 Thr TARDBP Mutations (2010) (9)
Amyotrophic lateral sclerosis is over-represented in two Huntington’s disease brain bank cohorts: further evidence to support genetic pleiotropy of pathogenic HTT gene expansion (2021) (9)
Frontal temporal dementia: dissecting the aetiology and pathogenesis. (2006) (9)
Using genome-Wwide complex trait analysis to quantify 'missing heritability' in Parkinson's disease (2012) (8)
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion (2016) (7)
What's the FUS! (2009) (7)
Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar‐onset neuropathy (2017) (7)
Defective cyclophilin A induces TDP-43 proteinopathy: implications for amyotrophic lateral sclerosis and frontotemporal dementia (2020) (7)
Road to the chromosome 9p-linked ALS/FTD locus (2012) (7)
Identifying potential risk factors for developing amyotrophic lateral sclerosis (2011) (7)
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into the complex genetic architecture (2020) (7)
Identifying and predicting amyotrophic lateral sclerosis clinical subgroups: a population-based machine-learning study. (2022) (7)
Oligogenic basis of sporadic ALS (2019) (6)
Association of a Locus in the CAMTA 1 GeneWith Survival in PatientsWith Sporadic Amyotrophic Lateral Sclerosis (2016) (6)
Expanding the genetics of amyotrophic lateral sclerosis and frontotemporal dementia (2012) (6)
Oncology: haematopoietic growth factors. (1991) (6)
Common variation at the LRRK2 locus is associated with survival in the primary tauopathy progressive supranuclear palsy (2020) (5)
Combined epigenetic/genetic study identified an ALS age of onset modifier (2021) (5)
Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients (2018) (5)
Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly (2019) (5)
MUTATION ANALYSIS OF THE MS4A AND TREM GENE-CLUSTERS IN A CASE-CONTROL ALZHEIMER’S DISEASE DATASET (2016) (5)
Current and future directions in genomics of amyotrophic lateral sclerosis. (2008) (4)
Genome-wide association studies and ALS: are we there yet? (2007) (4)
Nuclear depletion of RNA-binding protein ELAVL3 (HuC) in sporadic and familial amyotrophic lateral sclerosis (2021) (4)
Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation (2023) (4)
ATXN2 intermediate expansions in amyotrophic lateral sclerosis. (2022) (4)
Systematic evaluation of genetic mutations in ALS: a population-based study (2022) (4)
Nuclear depletion of RNA binding protein ELAVL3 (HuC) in sporadic and familial amyotrophic lateral sclerosis (2021) (4)
Dementia Research-A Roadmap for the Next Decade. (2017) (3)
A fluid biomarker reveals loss of TDP-43 splicing repression in pre-symptomatic ALS (2023) (3)
Investigating RFC1 expansions in sporadic amyotrophic lateral sclerosis (2021) (3)
Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing (2017) (3)
New antisense oligonucleotide therapies reach first base in ALS (2022) (3)
Prognostic relationship of neurofilaments, CHIT1, YKL-40 and MCP-1 in amyotrophic lateral sclerosis (2021) (3)
Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein (2019) (3)
The neurology of varicella-zoster virus: a historical perspective. (2004) (3)
For complex disease genetics, collaboration drives progress (2015) (3)
ALS in Finland (2022) (2)
Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis (2022) (2)
GBA variants influence cognitive status in amyotrophic lateral sclerosis (2021) (2)
A roadmap for genetic testing in ALS (2013) (2)
C9orf72 hexanucleotide repeat expansions are not a common cause of obsessive-compulsive disorder (2017) (2)
Large-scale Rare Variant Burden Testing in Parkinson's Disease Identifies Novel Associations with Genes Involved in Neuro-inflammation (2022) (2)
CAMTA 1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis (2018) (2)
Mutations in the SPTLC1 gene are a cause of amyotrophic lateral sclerosis that may be amenable to serine supplementation (2019) (2)
Large-scale pathway-specific polygenic risk, transcriptomic community networks and functional inferences in Parkinson disease (2020) (2)
C9orf72 Hexanucleotide Repeat in Huntington-Like Patients: Systematic Review and Meta-Analysis (2020) (2)
Highlighting the clinical potential of HTT repeat expansions in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis (2021) (2)
Plasma microRNA signature as biomarker for disease progression in frontotemporal dementia and amyotrophic lateral sclerosis (2021) (1)
CAG Somatic Instability in a Huntington Disease Expansion Carrier Presenting with a Progressive Supranuclear Palsy‐like Phenotype (2022) (1)
Genetic counselling: Psychological impact and concerns (2018) (1)
Clinical and Metabolic Signature of UNC13A rs12608932 Variant in Amyotrophic Lateral Sclerosis (2022) (1)
Correction to: Large‑scale pathway specific polygenic risk and transcriptomic community network analysis identifies novel functional pathways in Parkinson disease (2021) (1)
P3.48 Exome sequencing with linkage analysis identifies a novel ACTA1 variant in a large family with progressive muscle weakness (2011) (1)
CHCH10 mutations in an Italian cohort of familial and sporadic ALS patients (2015) (1)
Mutations in the Sphingolipid Pathway Gene SPTLC1 are a Cause of Amyotrophic Lateral Sclerosis (2019) (1)
The NIH C9ORF72 ALS-FTD Clinic: Recruitment and Early Enrollment Experience (2014) (1)
Genome-wide analysis of Structural Variants in Parkinson’s Disease using Short-Read Sequencing data (2022) (1)
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population. (2023) (1)
Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European Population (2022) (1)
Exploring the phenotype of Italian patients with ALS with intermediate ATXN2 polyQ repeats (2022) (1)
Genome‐Wide Analysis of Structural Variants in Parkinson Disease (2023) (1)
The Phenotype of the C 9 ORF 72 Expansion Carriers According to Revised Criteria for bvFTD Solje (1)
Transcriptomic profiling of the human brain reveals that altered synaptic gene expression is associated with chronological aging (2017) (1)
CRESTing the ALS mountain (2013) (1)
Personality traits are consistently associated with blood mitochondrial DNA copy number estimated from genome sequences in two genetic cohort studies (2022) (1)
The value of studying rare genetic variants and other emerging themes in neurogenetics. (2021) (1)
The genetics of amyotrophic lateral sclerosis (2009) (1)
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein (2019) (0)
AGenome-Wide Association Study ofMyasthenia Gravis (2015) (0)
CHCHD10 gene mutations in ALS patients of Italian ancestry (P2.052) (2015) (0)
FUS Mutations in a Large Series of Sporadic and Familial ALS (2010) (0)
Generation of two induced pluripotent stem cell (iPSC) lines from an ALS patient with simultaneous mutations in KIF5A and MATR3 genes (2020) (0)
Tdp-43 cryptic exons are highly variable between cell types (2017) (0)
Sporadic fatal dementia with thalamic gliosis and D178N PrP genotype but with absence of spongiform change and negative PrP immunocytochemistry. (1998) (0)
Special Issue on amyotrophic lateral sclerosis (2014) (0)
Nature meets nurture in amyotrophic lateral sclerosis (2021) (0)
Dementia: a roadmap for the next decade (2018) (0)
Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia (2014) (0)
Reply to Zhu et al.: Implications of CHRNB1 and ERBB2 in the pathobiology of myasthenia gravis (2022) (0)
To Dement or Not to Dement, That Is the Question. (2016) (0)
Age-related penetrance of the C9orf72 repeat expansion (2017) (0)
Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias (2023) (0)
The NIH C9ORF72 ALS-FTD study: correlation of clinical and quantitative imaging measures (P6.095) (2015) (0)
C9ORF72 in a Large Series of Italian and Sardinian Familial and Sporadic ALS Patients (IN9-1.003) (2012) (0)
Comprehensive Research Synopsis and Systematic Meta-Analyses in ALS Genetics: The ALSGene Database (P01.095) (2012) (0)
Rapid communication Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration (2009) (0)
Genetics of ALS in Italy: A Population-Based Study (S05.005) (2012) (0)
PET in in ALS Patients with C9ORF72 Mutations (P06.131) (2013) (0)
The NIH C9ORF72 ALS-FTD study: correlation of clinical and physiological measures (P4.130) (2015) (0)
PRO-ACE: Global Collaborative Ecosystem in a Post-PRO-ACT Era (P4.6-006) (2019) (0)
G507D mutation in FUS gene causes familial amyotrophic lateral sclerosis with a specific genotype-phenotype correlation (2022) (0)
The Neurogenetics Collection: emerging themes and future considerations for the field in Brain. (2022) (0)
Amyotrophic lateral sclerosis: translating genetic discoveries into therapies. (2023) (0)
No evidence for common genetic variants shared between multiple sclerosis (MS) and amyotrophic lateral sclerosis (ALS) (2011) (0)
Oral Presentations (2012) (0)
Differential Methylation Analysis in Neuropathologically Confirmed Dementia with Lewy Bodies (2022) (0)
An ALS Patient with a Homozygous A382T Missense Mutation of the TARDBP Gene (2011) (0)
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) (0)
A de novo nonsense mutation of the FUS gene in an apparently familial ALS case (2014) (0)
The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms (2013) (0)
Expanding the genetics of amyotrophic lateral sclerosis and frontotemporal dementia (2012) (0)
Dominant mutations of the Notch ligand Jagged1 (2020) (0)
The additive effect of genetic modifiers on ALS prognosis: a population-based study (2022) (0)
Successful use of lipoplex for delivery of the small molecule ManNAc and the GNE gene to rescue a mouse model of Hereditary Inclusion Body Myopathy ( HIBM ) (0)
Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein (2019) (0)
An ALS-FTD Patient Carrying a Double Pathogenetic Mutation of C9ORF72 and TARDBP: Case Report (P01.100) (2012) (0)
EXOME SEQUENCING AS A RAPID AND COST EFFICIENT DIAGNOSTIC METHOD IN NEUROGENETIC DISORDERS (2011) (0)
Projected Number of Amyotrophic Lateral Sclerosis Cases from 2005 to 2030 (P5.086) (2016) (0)
Disease Progression in Early ALS Predicts Survival (2002) (0)
Chromosome Position* Minor allele Major allele Risk allele Minor allele frequency OR (95% CI)† p value (2010) (0)
Reply: More than a co-incidence? Exploring the increased frequency of amyotrophic lateral sclerosis in Huntington disease (2022) (0)
Cumulative genetic risk and C9orf72 repeat status independently associate with ALS status in two case-control studies (2022) (0)
B48 DNA repair pathways as a common genetic mechanism modulating the age at onset in polyglutamine diseases (2016) (0)
Genetics of frontotemporal dementia1 (2012) (0)
Identification and prediction of ALS subgroups using machine learning (2021) (0)
VKučinskas-2001-2016 (2016) (0)
A data-driven approach links microglia to pathology and prognosis in amyotrophic lateral sclerosis (2017) (0)
The Neurology of Varicella-Zoster Virus (2016) (0)
HFE p.His63Asp polymorphism is not a modifier of ALS phenotype (P2.049) (2015) (0)
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 (2011) (0)
Cognitive Decline in Presymptomatic Alzheimer Disease (2016) (0)
Genetics of ALS in Italy: A Population-Based Study (IN9-1.007) (2012) (0)
The use of haematopoietic growth factors in oncology nursing (1993) (0)
identification of a novel mutation in ADRBK1 in a kindred with an autosomal dominant cerebellar ataxia (P6.402) (2016) (0)
ALS, physical activity, trauma and sport. A pilot case-control study (2007) (0)
[An] enumeration shall be made… (2015) (0)
Combined epigenetic/genetic study identified an ALS age of onset modifier (2021) (0)
Genetic variants associated with physical performance and anthropometry in old age: a genome-wide association study in the ilSIRENTE cohort (2017) (0)

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