Cargando…

Hereditary Frontotemporal Dementia Linked to the Pathogenic p.L266V Variant of the MAPT Gene in Korea

Detalles Bibliográficos
Autores principales:	Sung, Wonjae, Kim, Young-Eun, Kim, Seung Hyun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Korean Neurological Association 2021
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8242314/ https://www.ncbi.nlm.nih.gov/pubmed/34184459 http://dx.doi.org/10.3988/jcn.2021.17.3.478

Ejemplares similares

Frontotemporal Dementia-Parkinsonism Due to MAPT Gene Variant Presenting with Rest and Action Tremor
por: Bhattacharjee, Shakya, et al.
Publicado: (2023)

[(18)F]AV‐1451 PET in behavioral variant frontotemporal dementia due to MAPT mutation
por: Bevan Jones, W. Richard, et al.
Publicado: (2016)

Novel P397S MAPT variant associated with late onset and slow progressive frontotemporal dementia
por: Borrego‐Écija, Sergi, et al.
Publicado: (2019)

Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations
por: Bouzigues, Arabella, et al.
Publicado: (2022)

Interaction between a MAPT variant causing frontotemporal dementia and mutant APP affects axonal transport
por: Adalbert, Robert, et al.
Publicado: (2018)

Rates of Brain Atrophy Across Disease Stages in Familial Frontotemporal Dementia Associated With MAPT, GRN, and C9orf72 Pathogenic Variants
por: Staffaroni, Adam M., et al.
Publicado: (2020)

Two pathologically confirmed cases of novel mutations in the MAPT gene causing frontotemporal dementia
por: Shafei, Rachelle, et al.
Publicado: (2020)

Characterizing the Clinical Features and Atrophy Patterns of MAPT-Related Frontotemporal Dementia With Disease Progression Modeling
por: Young, Alexandra L., et al.
Publicado: (2021)

Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia
por: Miedema, Suzanne S. M., et al.
Publicado: (2022)

An autopsied FTDP-17 case with MAPT IVS 10 + 14C > T mutation presenting with frontotemporal dementia
por: Watanabe, Ryohei, et al.
Publicado: (2021)

Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland
por: Kaivorinne, Anna-Lotta, et al.
Publicado: (2008)

Presymptomatic and early pathological features of MAPT-associated frontotemporal lobar degeneration
por: Giannini, Lucia AA, et al.
Publicado: (2023)

Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients
por: Guven, Gamze, et al.
Publicado: (2016)

A Novel MAPT Mutation, G55R, in a Frontotemporal Dementia Patient Leads to Altered Tau Function
por: Iyer, Abhinaya, et al.
Publicado: (2013)

MMP-9 and MMP-2 Contribute to Neuronal Cell Death in iPSC Models of Frontotemporal Dementia with MAPT Mutations
por: Biswas, Md Helal U., et al.
Publicado: (2016)

Behavioral Reserve in Behavioral Variant Frontotemporal Dementia
por: Kim, Su Hong, et al.
Publicado: (2022)

Clinical heterogeneity of frontotemporal dementia and Parkinsonism linked to chromosome 17 caused by MAPT N279K mutation in relation to tau positron emission tomography features
por: Ikeda, Aya, et al.
Publicado: (2019)

Preferential tau aggregation in von Economo neurons and fork cells in frontotemporal lobar degeneration with specific MAPT variants
por: Lin, Li-Chun, et al.
Publicado: (2019)

Retiring the term FTDP-17 as MAPT mutations are genetic forms of sporadic frontotemporal tauopathies
por: Forrest, Shelley L, et al.
Publicado: (2018)

Invited review: Frontotemporal dementia caused by microtubule-associated protein tau gene (MAPT) mutations: a chameleon for neuropathology and neuroimaging
por: Ghetti, B, et al.
Publicado: (2015)

A heterozygous splicing variant IVS9-7A > T in intron 9 of the MAPT gene in a patient with right-temporal variant frontotemporal dementia with atypical 4 repeat tauopathy
por: Mori, Kohji, et al.
Publicado: (2023)

Isoform-specific patterns of tau burden and neuronal degeneration in MAPT-associated frontotemporal lobar degeneration
por: Giannini, Lucia A. A., et al.
Publicado: (2022)

Behavioural-variant frontotemporal dementia: an update
por: Piguet, Olivier, et al.
Publicado: (2013)

Psychosis in behavioral variant frontotemporal dementia
por: Gossink, Flora T, et al.
Publicado: (2017)

Correction to: Isoform-specific patterns of tau burden and neuronal degeneration in MAPT-associated frontotemporal lobar degeneration
por: Giannini, Lucia A. A., et al.
Publicado: (2023)

Mitotic defects lead to neuronal aneuploidy and apoptosis in frontotemporal lobar degeneration caused by MAPT mutations
por: Caneus, Julbert, et al.
Publicado: (2018)

Brain MR Spectroscopy Changes Precede Frontotemporal Lobar Degeneration Phenoconversion in Mapt Mutation Carriers
por: Chen, Qin, et al.
Publicado: (2019)

Cortical iron accumulation in MAPT ‐ and C9orf 72‐associated frontotemporal lobar degeneration
por: Giannini, Lucia A. A., et al.
Publicado: (2023)

The cognitive consequences of the COVID-19 infection and behavioral variant frontotemporal dementia: Is there a link?
por: Costandache, G. I., et al.
Publicado: (2023)

The language profile of behavioral variant frontotemporal dementia
por: Hardy, Chris J. D., et al.
Publicado: (2015)

Networks Disrupted in Linguistic Variants of Frontotemporal Dementia
por: Reyes, Pablo Alexander, et al.
Publicado: (2019)

Functional connectivity in behavioral variant frontotemporal dementia
por: Ferreira, Luiz Kobuti, et al.
Publicado: (2022)

Behavioural Variant of Frontotemporal Dementia or Mood Disorder?
por: Mesquita, B., et al.
Publicado: (2022)

Mitochondrial Defects in Fibroblasts of Pathogenic MAPT Patients
por: Bharat, Vinita, et al.
Publicado: (2021)

Developmental regulation of tau splicing is disrupted in stem cell-derived neurons from frontotemporal dementia patients with the 10 + 16 splice-site mutation in MAPT
por: Sposito, Teresa, et al.
Publicado: (2015)

Brainstem atrophy is linked to extrapyramidal symptoms in frontotemporal dementia
por: Heikkinen, Sami, et al.
Publicado: (2022)

Frontotemporal dementia
por: Warren, Jason D, et al.
Publicado: (2013)

Hebephrenic schizophrenia as a variant of frontotemporal dementia – the true dementia praecox?
por: Medeiros, A.B., et al.
Publicado: (2021)

Eating and hypothalamus changes in behavioral-variant frontotemporal dementia
por: Piguet, Olivier, et al.
Publicado: (2011)

Hippocampal sclerosis dementia: an amnesic variant of frontotemporal degeneration
por: Onyike, Chiadi U., et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_ucn784a31gk9sg89unobi373nl