Autophagy and ALS: mechanistic insights and therapeutic implications

JP Chua, H De Calbiac, E Kabashi, SJ Barmada - Autophagy, 2022 - Taylor & Francis
Mechanisms of protein homeostasis are crucial for overseeing the clearance of misfolded
and toxic proteins over the lifetime of an organism, thereby ensuring the health of neurons …

Dissection of genetic factors associated with amyotrophic lateral sclerosis

CS Leblond, HM Kaneb, PA Dion, GA Rouleau - Experimental neurology, 2014 - Elsevier
Amyotrophic lateral sclerosis (ALS) is a fatal late onset neurological disorder characterized
by motor neuron degeneration in the primary motor cortex, brainstem and spinal cord. The …

A novel mutation in VCP causes Charcot–Marie–Tooth Type 2 disease

MA Gonzalez, SM Feely, F Speziani, AV Strickland… - Brain, 2014 - academic.oup.com
Mutations in VCP have been reported to account for a spectrum of phenotypes that include
inclusion body myopathy with Paget's disease of the bone and frontotemporal dementia …

Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy

RI Wadman, MD Jansen, M Stam… - Brain …, 2020 - academic.oup.com
Clinical severity and treatment response vary significantly between patients with spinal
muscular atrophy. The approval of therapies and the emergence of neonatal screening …

Comprehensive genetic analysis of a Hungarian amyotrophic lateral sclerosis cohort

K Tripolszki, P Gampawar, H Schmidt, ZF Nagy… - Frontiers in …, 2019 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease
characterized by the degeneration of motor neurons. Genetic factors play a key role in ALS …

Maternal BMI as a predictor of methylation of obesity-related genes in saliva samples from preschool-age Hispanic children at-risk for obesity

KT Oelsner, Y Guo, SBC To, AL Non, SL Barkin - BMC genomics, 2017 - Springer
Background The study of epigenetic processes and mechanisms present a dynamic
approach to assess complex individual variation in obesity susceptibility. However, few …

Rare variants in neurodegeneration associated genes revealed by targeted panel sequencing in a German ALS cohort

S Krüger, F Battke, A Sprecher, M Munz… - Frontiers in molecular …, 2016 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a progressive fatal multisystemic neurodegenerative
disorder caused by preferential degeneration of upper and lower motor neurons. To further …

Identification of a novel loss-of-function C9orf72 splice site mutation in a patient with amyotrophic lateral sclerosis

F Liu, Q Liu, CX Lu, B Cui, XN Guo, RR Wang… - Neurobiology of …, 2016 - Elsevier
Abnormal expansion of a hexanucleotide GGGGCC repeat in the C9orf72 gene is the most
common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia in …

High‐throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis

K Tripolszki, D Török, D Goudenège… - Brain and …, 2017 - Wiley Online Library
Background Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease
characterized by the degeneration of the motor neurons. To date, 126 genes have been …

The potential connection between molecular changes and biomarkers related to ALS and the development and regeneration of CNS

D Glavač, M Mladinić, J Ban, GL Mazzone… - International journal of …, 2022 - mdpi.com
Neurodegenerative diseases are one of the greatest medical burdens of the modern age,
being mostly incurable and with limited prognostic and diagnostic tools. Amyotrophic lateral …