C9orf72-mediated ALS and FTD: multiple pathways to disease

R Balendra, AM Isaacs - Nature Reviews Neurology, 2018 - nature.com
The discovery that repeat expansions in the C9orf72 gene are a frequent cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …

[HTML][HTML] Clinical diagnostic utility of transcranial magnetic stimulation in neurological disorders. Updated report of an IFCN committee

S Vucic, KHS Chen, MC Kiernan, M Hallett… - Clinical …, 2023 - Elsevier
The review provides a comprehensive update (previous report: Chen R, Cros D, Curra A, Di
Lazzaro V, Lefaucheur JP, Magistris MR, et al. The clinical diagnostic utility of transcranial …

The C9ORF72 GGGGCC expansion forms RNA G-quadruplex inclusions and sequesters hnRNP H to disrupt splicing in ALS brains

EG Conlon, L Lu, A Sharma, T Yamazaki, T Tang… - elife, 2016 - elifesciences.org
An expanded GGGGCC hexanucleotide in C9ORF72 (C9) is the most frequent known cause
of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). It has been …

Neuromuscular junction dysfunction in amyotrophic lateral sclerosis

S Verma, S Khurana, A Vats, B Sahu, NK Ganguly… - Molecular …, 2022 - Springer
Amyotrophic lateral sclerosis (ALS) is a fatal neurological disorder characterized by
progressive degeneration of motor neurons leading to skeletal muscle denervation. Earlier …

Human C9ORF72 hexanucleotide expansion reproduces RNA foci and dipeptide repeat proteins but not neurodegeneration in BAC transgenic mice

OM Peters, GT Cabrera, H Tran, TF Gendron… - Neuron, 2015 - cell.com
A non-coding hexanucleotide repeat expansion in the C9ORF72 gene is the most common
mutation associated with familial amyotrophic lateral sclerosis (ALS) and frontotemporal …

Pathophysiological and diagnostic implications of cortical dysfunction in ALS

N Geevasinga, P Menon, PH Özdinler… - Nature Reviews …, 2016 - nature.com
Cortical dysfunction—specifically, the development of hyperexcitability—seems to be an
early and intrinsic feature of sporadic and familial amyotrophic lateral sclerosis (ALS) …

Pathophysiology and diagnosis of ALS: insights from advances in neurophysiological techniques

MAJ van den Bos, N Geevasinga… - International journal of …, 2019 - mdpi.com
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive and fatal neurodegenerative
disorder of the motor neurons, characterized by focal onset of muscle weakness and …

Biomarkers in motor neuron disease: a state of the art review

NS Verber, SR Shepheard, M Sassani… - Frontiers in …, 2019 - frontiersin.org
Motor neuron disease can be viewed as an umbrella term describing a heterogeneous
group of conditions, all of which are relentlessly progressive and ultimately fatal. The …

Neurons selectively targeted in frontotemporal dementia reveal early stage TDP-43 pathobiology

AL Nana, M Sidhu, SE Gaus, JHL Hwang, L Li… - Acta …, 2019 - Springer
Abstract TAR DNA-binding protein 43 (TDP-43) aggregation is the most common
pathological hallmark in frontotemporal dementia (FTD) and characterizes nearly all patients …

TDP-43 dysregulation and neuromuscular junction disruption in amyotrophic lateral sclerosis

S Lépine, MJ Castellanos-Montiel… - Translational …, 2022 - Springer
Amyotrophic lateral sclerosis (ALS) is a disease characterized by upper and lower motor
neuron (MN) loss with a signature feature of cytoplasmic aggregates containing TDP-43 …