[HTML][HTML] Genomic and transcriptomic advances in amyotrophic lateral sclerosis

M Rizzuti, L Sali, V Melzi, S Scarcella… - Ageing Research …, 2023 - Elsevier
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder and the most common
motor neuron disease. ALS shows substantial clinical and molecular heterogeneity. In vitro …

Purinergic P2X7 Receptor: A Therapeutic Target in Amyotrophic Lateral Sclerosis

ADJ Mckenzie, TR Garrett, EL Werry… - ACS Chemical …, 2022 - ACS Publications
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease
characterized by upper and lower motor neuron loss. The pathomechanisms of ALS are still …

Experimental disease-modifying agents for frontotemporal lobar degeneration

M Giunta, E Solje, F Gardoni, B Borroni… - Journal of Experimental …, 2021 - Taylor & Francis
Frontotemporal dementia is a clinically, genetically and pathologically heterogeneous
neurodegenerative disorder, enclosing a wide range of different pathological entities …

[图书][B] Advances in clinical chemistry

H Sobotka, CP Stewart - 1964 - books.google.com
Volume 7 of Advances in Clinical Chemistry ranges over the whole gamut of the subject. The
broad scope presented here is a deliberate act of policy-the aim is to emphasize the …

Metabolic Syndrome and Risk of Amyotrophic Lateral Sclerosis: Insights from a Large‐Scale Prospective Study

J Zhang, W Cao, J Xie, C Pang, L Gao… - Annals of …, 2024 - Wiley Online Library
Objective Although metabolic abnormalities are implicated in the etiology of
neurodegenerative diseases, their role in the development of amyotrophic lateral sclerosis …

Investigating the prevalence of MFN2 mutations in amyotrophic lateral sclerosis: insights from an Italian cohort

E Abati, D Gagliardi, A Manini, R Del Bo… - Brain …, 2024 - academic.oup.com
The MFN2 gene encodes mitofusin 2, a key protein for mitochondrial fusion, transport,
maintenance and cell communication. MFN2 mutations are primarily linked to Charcot …

[HTML][HTML] The parallel tetrameric DNA G-quadruplex formed by the two-repeat C9orf72 GGGGCC sequence in solution

C Liu, B Zhou, N Xu, CP Fung, B Yan, MC Suen… - Magnetic Resonance …, 2022 - Elsevier
The abnormal expansion of G-rich hexanucleotide repeat, GGGGCC (G4C2), in
chromosome 9 open reading frame 72 (C9orf72) is known to be the prevailing genetic cause …

Evolving markers in amyotrophic lateral sclerosis

X Chen, L Zhou, C Cui, J Sun - Advances in Clinical Chemistry, 2023 - Elsevier
Amyotrophic lateral sclerosis (ALS) is a relatively rare but fatal neurodegenerative disease
with the progressive loss of both upper and lower motor neurons. Although …

Altered nuclear envelope homeostasis is a key pathogenic event in C9ORF72-linked ALS/FTD

R Sirtori, MJ Gregoire, A Collins, S Santangelo… - bioRxiv, 2024 - biorxiv.org
ALS and FTD are complex neurodegenerative disorders that primarily affects motor neurons
in the brain and spinal cord, and cortical neurons in the frontal lobe. Although the …

Frontotemporal dementia patient-derived iPSC neurons show cell pathological hallmarks and evidence for synaptic dysfunction and DNA damage

A Haapasalo, N Huber, T Hietanen, S Heikkinen… - bioRxiv, 2024 - biorxiv.org
Frontotemporal dementia (FTD) is the second most common cause of dementia in patients
under 65 years, characterized by diverse clinical symptoms, neuropathologies, and genetic …