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

No abstract is available for this paper.

• Publication year

  2013

• Venue

  Neurobiology of Aging

• Publication date

  Unknown publication date

• Fields of study

  Medicine

• Identifiers
  DOI 10.1016/j.neurobiolaging.2012.07.016PMID 22921269PMCID PMC3483408
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• UNC13A is a modifier of survival in amyotrophic lateral sclerosis.

  2012influential reference
• A High-Density Genome-Wide Association Screen of Sporadic ALS in US Veterans

  2012cited by this paper
• Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

  2012cited by this paper
• C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.

  2012cited by this paper
• Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study

  2012cited by this paper
• Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes

  2012cited by this paper
• Munc13-1 Is Required for Presynaptic Long-Term Potentiation

  2011cited by this paper
• Analysis of the UNC13A gene as a risk factor for sporadic amyotrophic lateral sclerosis.

  2010cited by this paper
• Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients

  2010cited by this paper
• Munc18 and Munc13 regulate early neurite outgrowth

  2010cited by this paper
• Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

  2010cited by this paper
• Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study.

  2010cited by this paper
• Epidemiology of ALS in Italy

  2009cited by this paper
• Prognostic factors in ALS: A critical review

  2009cited by this paper
• Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

  2009cited by this paper
• A Genome-Wide Association Study Identifies Protein Quantitative Trait Loci (pQTLs)

  2008cited by this paper
• Epidemiology and clinical features of amyotrophic lateral sclerosis in Ireland between 1995 and 2004

  2007cited by this paper
• PLINK: a tool set for whole-genome association and population-based linkage analyses.

  2007cited by this paper
• The neurite outgrowth inhibitor Nogo‐A promotes denervation in an amyotrophic lateral sclerosis model

  2006cited by this paper
• Subsystems Contributing to the Decline in Ability to Walk: Bridging the Gap Between Epidemiology and Geriatric Practice in the InCHIANTI Study

  2000cited by this paper
• El Escorial revisited: Revised criteria for the diagnosis of amyotrophic lateral sclerosis

  2000cited by this paper
• Munc13-1 is essential for fusion competence of glutamatergic synaptic vesicles

  1999cited by this paper
• Dose-ranging study of riluzole in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis/Riluzole Study Group II.

  1996cited by this paper
• Dose-ranging study of riluzole in amyotrophic lateral sclerosis

  1996cited by this paper
• Abnormal excitatory amino acid metabolism in amyotrophic lateral sclerosis

  1990cited by this paper
• Van Damme A.

  1986cited by this paper

• Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

  2025cites this paper
• Munc13-1 restoration mitigates presynaptic pathology in spinal muscular atrophy

  2025cites this paper
• Loss of synaptic Munc13-1 underlies neurotransmission abnormalities in spinal muscular atrophy

  2025cites this paper
• Neurodegenerative disease in C9orf72 repeat expansion carriers: population risk and effect of UNC13A

  2025cites this paper
• 2,4,6-trinitrotoluene induces neurotoxicity by affecting the G protein pathways in Caenorhabditis elegans.

  2025cites this paper
• Multi-omics analyses identify potential epigenetic loci associated with survival in amyotrophic lateral sclerosis across diverse populations

  2025cites this paper
• Synaptopathy: presynaptic convergence in frontotemporal dementia and amyotrophic lateral sclerosis

  2024cites this paper
• Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population

  2024cites this paper
• Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis

  2024cites this paper
• Association of UNC13A with increased amyotrophic lateral sclerosis risk, bulbar onset, and lower motor neuron involvement in a Norwegian ALS cohort

  2024cites this paper
• Quantification of serum TDP-43 and neurofilament light chain in patients with amyotrophic lateral sclerosis stratified by UNC13A genotype.

  2024cites this paper
• The era of cryptic exons: implications for ALS-FTD

  2023cites this paper
• Advances in sequencing technologies for amyotrophic lateral sclerosis research

  2023cites this paper
• Association of the risk factor UNC13A with survival and upper motor neuron involvement in amyotrophic lateral sclerosis

  2023cites this paper
• UNC13A in amyotrophic lateral sclerosis: from genetic association to therapeutic target

  2023cites this paper
• Role of the UNC13 family in human diseases: A literature review

  2023cites this paper
• Genomic and transcriptomic advances in amyotrophic lateral sclerosis.

  2023cites this paper
• Disease survival and progression in TARDBP ALS patients from Sardinia, Italy

  2023cites this paper
• Association of Copresence of Pathogenic Variants Related to Amyotrophic Lateral Sclerosis and Prognosis

  2023cites this paper
• The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations

  2023cites this paper
• Genetic factors for survival in amyotrophic lateral sclerosis: an integrated approach combining a systematic review, pairwise and network meta-analysis

  2022cites this paper
• UNC13A Gene Brings New Hope for ALS Disease-Modifying Drugs

  2022cites this paper
• Atypical TDP‐43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP

  2022cites this paper
• Mitochondrial function determines severity but not risk of amyotrophic lateral sclerosis

  2022cites this paper
• Clinical and Metabolic Signature of UNC13A rs12608932 Variant in Amyotrophic Lateral Sclerosis

  2022cites this paper
• The additive effect of genetic modifiers on ALS prognosis: a population-based study

  2022cites this paper
• TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A

  2021cites this paper
• Genetic and Transcriptomic Biomarkers in Neurodegenerative Diseases: Current Situation and the Road Ahead

  2021cites this paper
• Advances in the genetic classification of amyotrophic lateral sclerosis

  2021cites this paper
• The genetic architecture of ALS.

  2020cites this paper
• The Distinct Traits of the UNC13A Polymorphism in Amyotrophic Lateral Sclerosis

  2020cites this paper
• Amyotrophic Lateral Sclerosis: Current Status in Diagnostic Biomarkers.

  2020cites this paper
• Different gene expression profiles in iPSC-derived motor neurons from ALS8 patients with variable clinical courses suggest mitigating pathways for neurodegeneration.

  2020cites this paper
• Progression and survival of patients with motor neuron disease relative to their fecal microbiota

  2020cites this paper
• Combined Tissue-Fluid Proteomics to Unravel Phenotypic Variability in Amyotrophic Lateral Sclerosis

  2019cites this paper
• UNC13A variant rs12608932 is associated with increased risk of amyotrophic lateral sclerosis and reduced patient survival: a meta-analysis

  2019cites this paper
• UNC13A polymorphism contributes to frontotemporal disease in sporadic amyotrophic lateral sclerosis.

  2019cites this paper
• The clinical assessment of amyotrophic lateral sclerosis patients’ prognosis by ZNF512B gene, neck flexor muscle power score and body mass index (BMI)

  2018cites this paper
• Lack of association between the P413L variant of chromogranin B and ALS risk or age at onset: a meta-analysis

  2018cites this paper
• Genetics of Amyotrophic Lateral Sclerosis.

  2018cites this paper
• Common polymorphisms of chemokine (C‐X3‐C motif) receptor 1 gene modify amyotrophic lateral sclerosis outcome: A population‐based study

  2018cites this paper
• The Environmental Epidemiology of Amyotrophic Lateral Sclerosis in Europe

  2018cites this paper
• Identification of Novel Genetic Variations for Amyotrophic Lateral Sclerosis (ALS)

  2018cites this paper
• Difficulty in determining the association of a single nucleotide polymorphism in the ZNF512B gene with the risk and prognosis of amyotrophic lateral sclerosis.

  2017cites this paper
• Identification of risk factors associated with onset and progression of amyotrophic lateral sclerosis using systematic review and meta‐analysis

  2017cites this paper
• HLA-DRA/HLA-DRB5 polymorphism affects risk of sporadic ALS and survival in a southwest Chinese cohort.

  2017cites this paper
• Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials

  2017cites this paper
• Genetics of amyotrophic lateral sclerosis.

  2017cites this paper
• Amyotrophic Lateral Sclerosis.

  2017cites this paper
• Lateral Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis

  2016cites this paper
• Toward precision medicine in amyotrophic lateral sclerosis.

  2016cites this paper
• Recent advances in amyotrophic lateral sclerosis

  2016cites this paper
• Further development of biomarkers in amyotrophic lateral sclerosis

  2016cites this paper
• Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis

  2016cites this paper
• Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers.

  2016cites this paper
• The modifiers of amyotrophic lateral sclerosis survival and clinical trial design

  2016influential citation
• Amyotrophic Lateral Sclerosis 1 and Many Diseases

  2016cites this paper
• Current Issues in Randomized Clinical Trials of Neurodegenerative Disorders at Enrolment and Reporting: Diagnosis, Recruitment, Representativeness of Patients, Ethnicity, and Quality of Reporting.

  2016cites this paper
• Neurodegeneration in C. elegans models of ALS requires TIR-1/Sarm1 immune pathway activation in neurons

  2015cites this paper
• Chapter 87 – Amyotrophic Lateral Sclerosis

  2015cites this paper
• Planetary systems and real planetary nebulae from planet destruction near white dwarfs

  2015cites this paper
• The genetic basis of amyotrophic lateral sclerosis: recent breakthroughs

  2015cites this paper
• Amyotrophic lateral sclerosis: genetic susceptibility factors and pleiotropy

  2015cites this paper
• The genetic basis of amyotrophic lateral sclerosis: recent breakthroughs

  2015cites this paper
• Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD).

  2015cites this paper
• ATXN2 polyQ intermediate repeats are a modifier of ALS survival

  2015cites this paper
• The genetic basis of amyotrophic lateral sclerosis: recent breakthroughs

  2015cites this paper
• Use of biomarkers in ALS drug development and clinical trials.

  2015cites this paper
• UNC13A confers risk for sporadic ALS and influences survival in a Spanish cohort

  2015cites this paper
• HFE p.H63D polymorphism does not influence ALS phenotype and survival.

  2015cites this paper
• Familial Amyotrophic Lateral Sclerosis.

  2015cites this paper
• The predictors of survival in Chinese amyotrophic lateral sclerosis patients

  2015cites this paper
• AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION

  2015cites this paper
• Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges.

  2015influential citation
• C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: A genome‐wide meta‐analysis

  2014cites this paper
• Recent progress in the genetics of motor neuron disease.

  2014cites this paper
• Genetic heterogeneity of amyotrophic lateral sclerosis: Implications for clinical practice and research

  2014cites this paper
• Dissection of genetic factors associated with amyotrophic lateral sclerosis.

  2014cites this paper
• Association analysis of four candidate genetic variants with sporadic amyotrophic lateral sclerosis in a Chinese population

  2014cites this paper
• Clinical neurogenetics: amyotrophic lateral sclerosis.

  2013cites this paper
• Study of Cyclophilin A Function in Models of Amyotrophic Lateral Sclerosis

  2013cites this paper
• Enlarging the clinical spectrum associated with C9orf 72 repeat expansions: Findings in an Italian cohort of patients with Parkinsonian syndromes and relevance for genetic counselling

  2013cites this paper
• ZNF512B gene is a prognostic factor in patients with amyotrophic lateral sclerosis.

  2013cites this paper
• Genome-wide association studies in neurology.

  2013cites this paper