Calabria as a genetic isolate: a model for the study of neurodegenerative diseases

F Bruno, V Laganà, R Di Lorenzo, AC Bruni, R Maletta - Biomedicines, 2022 - mdpi.com
Although originally multi-ethnic in its structure, nowadays the Calabria region of southern
Italy represents an area with low genetic heterogeneity and a high level of consanguinity …

TARDBP mutations in a cohort of Italian patients with Parkinson's disease and atypical parkinsonisms

C Tiloca, S Goldwurm, N Calcagno, F Verde… - Frontiers in Aging …, 2022 - frontiersin.org
Background Aggregates of TAR DNA-binding protein of 43 kDa (TDP-43) represent the
pathological hallmark of most amyotrophic lateral sclerosis (ALS) and of nearly 50% of …

Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis

S Lattante, M Sabatelli, G Bisogni… - European Journal of …, 2023 - Wiley Online Library
Background and objectives Genetic variants in the gene TARDBP, encoding TDP‐43
protein, are associated with amyotrophic lateral sclerosis (ALS) in familial (fALS) and …

[HTML][HTML] TDP-1/TDP-43 potentiates human α-Synuclein (HASN) neurodegeneration in Caenorhabditis elegans

L Shen, C Wang, L Chen, KL Leung, E Lo… - … et Biophysica Acta (BBA …, 2020 - Elsevier
Abstract TAR DNA binding protein (TDP-43) is a DNA/RNA binding protein whose
pathological role in amyotrophic lateral sclerosis (ALS) and frontal temporal lobe dementia …

Study of Alzheimer's disease-and frontotemporal dementia-associated genes in the Cretan Aging Cohort

L Mathioudakis, C Dimovasili, M Bourbouli… - Neurobiology of …, 2023 - Elsevier
Using exome sequencing, we analyzed 196 participants of the Cretan Aging Cohort (CAC;
95 with Alzheimer's disease [AD], 20 with mild cognitive impairment [MCI], and 81 cognitively …

Novel TARDBP missense mutation caused familial amyotrophic lateral sclerosis with frontotemporal dementia and parkinsonism

S Chen, RL Zhou, W Zhang, CH Che, SY Feng… - Neurobiology of …, 2021 - Elsevier
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder that
predominately involves the motor neurons in the brain and spinal cord. The TARDBP gene …

[PDF][PDF] Calabria as a Genetic Isolate: A Model for the Study of Neurodegenerative Diseases. Biomedicines 2022, 10, 2288

F Bruno, V Laganà, R Di Lorenzo, AC Bruni, R Maletta - 2022 - academia.edu
Although originally multi-ethnic in its structure, nowadays the Calabria region of southern
Italy represents an area with low genetic heterogeneity and a high level of consanguinity …

Dissecting the genetic bases of Amyotrophic lateral sclerosis and Late-onset Pompe disease through Next-generation sequencing

I Palmieri - 2021 - iris.unipv.it
Amyotrophic lateral sclerosis (ALS) is a fatal neuromuscular disorder that affects motor
neurons. ALS genetic landscape continues to shift as the number of genes associated with …