ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
42 citing papers in PubMed, 2 syntheses or guidelines pooled it, 81 citations in OpenAlex.
- Pooled it
- Guidelines for bioinformatics of single-cell sequencing data analysis in Alzheimer's disease: review, recommendation, implementation and application.Molecular neurodegeneration · 2022Pooled it
- Clinical genome sequencing in neurodegenerative diseases-outcome in the first 500 patients.Human molecular genetics · 2026Article
- Ultra-rare variants in LAMA2 are risk factors for frontotemporal dementia and motor neuron disease.Human molecular genetics · 2026Article
- A novel gross deletion in the progranulin gene in four subjects with frontotemporal dementia.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Atypical Frontotemporal Dementia Associated With SQSTM1 Gene Mutation: A Clinicopathological Case.Neuropathology : official journal of the Japanese Society of Neuropathology · 2025Article
- Review
- Molecular dynamics, docking and quantum calculations reveal conformational changes influenced by CYP271A amino acid mutations related to cerebrotendinous xanthomatosis.Scientific reports · 2025Article
- Clinical Heterogeneity of Neuronal Ceroid Lipofuscinosis Type 13: A Case Report and Systematic Review of Literature.Neurology. Genetics · 2025Article
- Novel Pathogenic MissenseDementia and neurocognitive disorders · 2024Article
- Repeated mild traumatic brain injury triggers pathology in asymptomatic C9ORF72 transgenic mice.Brain : a journal of neurology · 2023Article
- Article
- Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes.Human genomics · 2023Article
- C9orf72 expansions are the most common cause of genetic frontotemporal dementia in a Southeast Asian cohort.Annals of clinical and translational neurology · 2023Article
- Genetic counseling and diagnostic genetic testing for familial amyotrophic lateral sclerosis and/or frontotemporal dementia: A qualitative study of client experiences.Journal of genetic counseling · 2022Article
- Article
- MicroRNA biomarkers in frontotemporal dementia and to distinguish from Alzheimer's disease and amyotrophic lateral sclerosis.Neural regeneration research · 2022Review
- Genetic investigation of dementias in clinical practice.Arquivos de neuro-psiquiatria · 2022Review
- Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis.Neurology. Genetics · 2022Article
- Genotyping and Plasma/Cerebrospinal Fluid Profiling of a Cohort of Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Patients.Brain sciences · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PurposeTo define the genetic spectrum and relative gene frequencies underlying clinical frontotemporal dementia (FTD).MethodsWe investigated the frequencies and mutations in neurodegenerative disease genes in 121 consecutive FTD subjects using an unbiased, combined sequencing approach, complemented by cerebrospinal fluid Aβ
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.