[HTML][HTML] Regenerative stem cell therapy for neurodegenerative diseases: an overview

F Sivandzade, L Cucullo - International journal of molecular sciences, 2021 - mdpi.com
Neurodegenerative diseases resulting from the progressive loss of structure and/or function
of neurons contribute to different paralysis degrees and loss of cognition and sensation. The …

[HTML][HTML] Genetics of progressive supranuclear palsy: a review

Y Wen, Y Zhou, B Jiao, L Shen - Journal of Parkinson's …, 2021 - content.iospress.com
Progressive supranuclear palsy (PSP) is an atypical parkinsonism with prominent 4R-tau
neuropathology, and the classical clinical phenotype is characterized by vertical …

[HTML][HTML] Analysis of 50 neurodegenerative genes in clinically diagnosed early-onset Alzheimer's disease

VV Giau, V Senanarong, E Bagyinszky, SSA An… - International journal of …, 2019 - mdpi.com
Alzheimer's disease (AD), Parkinson's disease (PD), frontotemporal dementia (FTD),
amyotrophic lateral sclerosis (ALS), Huntington's disease (HD), and prion diseases have a …

Recent advances in the genetics of frontotemporal dementia

DW Sirkis, EG Geier, LW Bonham, CM Karch… - … genetic medicine reports, 2019 - Springer
Abstract Purpose of Review In this review, we highlight recent advances in the human
genetics of frontotemporal dementia (FTD). In addition to providing a broad survey of genes …

Intermediate C9orf72 alleles in neurological disorders: does size really matter?

ASL Ng, EK Tan - Journal of medical genetics, 2017 - jmg.bmj.com
C9orf72 repeat expansions is a major cause of familial frontotemporal dementia (FTD) and
amyotrophic lateral sclerosis (ALS) worldwide. Sizes of< 20 hexanucleotide repeats are …

[HTML][HTML] Cognitive dysfunction in repeat expansion diseases: a review

S Zhang, L Shen, B Jiao - Frontiers in Aging Neuroscience, 2022 - frontiersin.org
With the development of the sequencing technique, more than 40 repeat expansion
diseases (REDs) have been identified during the past two decades. Moreover, the clinical …

In Vivo 18F‐APN‐1607 Tau Positron Emission Tomography Imaging in MAPT Mutations: Cross‐Sectional and Longitudinal Findings

XY Zhou, JY Lu, FT Liu, P Wu, J Zhao, ZZ Ju… - Movement …, 2022 - Wiley Online Library
Background Frontotemporal lobar degeneration with tauopathy caused by MAPT
(microtubule‐associated protein tau) mutations is a highly heterogenous disorder. The …

[HTML][HTML] The frequency of genetic mutations associated with behavioral variant frontotemporal dementia in Chinese Han patients

L Liu, B Cui, M Chu, Y Cui, D Jing, D Li… - Frontiers in aging …, 2021 - frontiersin.org
Background Behavioral variant frontotemporal dementia (bvFTD) is a clinically
heterogeneous syndrome with high heredity. However, the frequencies of mutations …

[HTML][HTML] Underlying genetic variation in familial frontotemporal dementia: sequencing of 198 patients

MO Mol, JGJ van Rooij, TH Wong, S Melhem… - Neurobiology of …, 2021 - Elsevier
Frontotemporal dementia (FTD) presents with a wide variability in clinical syndromes,
genetic etiologies, and underlying pathologies. Despite the discovery of pathogenic variants …

[HTML][HTML] Dissecting the Clinical Heterogeneity and Genotype-Phenotype Correlations of MAPT Mutations: A Systematic Review

C Villa, E Pellencin, A Romeo, G Giaccone… - Frontiers in Bioscience …, 2024 - imrpress.com
Background: Microtubule-associated protein tau (MAPT) mutations are one of the main
causes of genetic Frontotemporal dementia (FTD) and are characterised by high clinical …