SQSTM1 variant in disorders of the frontotemporal dementia–amyotrophic lateral sclerosis spectrum: identification of a novel heterozygous variant and a review of the …
W Li, H Gao, X Dong, D Zheng - Journal of Neurology, 2021 - Springer
… research criteria: [(“frontotemporal lobar degeneration”) OR (“frontotemporal dementia”) OR
(“amyotrophic lateral sclerosis”) OR (“motor neuron disease”)] AND (“SQSTM1”). The clinical …
(“amyotrophic lateral sclerosis”) OR (“motor neuron disease”)] AND (“SQSTM1”). The clinical …
Clinicopathological description of two cases with SQSTM1 gene mutation associated with frontotemporal dementia
GG Kovacs, J van der Zee, J Hort… - …, 2016 - Wiley Online Library
… on amyotrophic lateral sclerosis (ALS) that SQSTM1 mutations consistently associate with
TDP-43 pathology. The co-presence of C9orf72 mutation … , frontotemporal lobar degeneration (…
TDP-43 pathology. The co-presence of C9orf72 mutation … , frontotemporal lobar degeneration (…
Association of a structural variant within the SQSTM1 gene with amyotrophic lateral sclerosis
… diseases such as amyotrophic lateral sclerosis (ALS), the … a structural variant (SV) within
sequestosome 1 (SQSTM1). … of the frontotemporal lobar degeneration-amyotrophic lateral …
sequestosome 1 (SQSTM1). … of the frontotemporal lobar degeneration-amyotrophic lateral …
[HTML][HTML] Amyotrophic lateral sclerosis and frontotemporal lobar degenerations: similarities in genetic background
E Parobkova, R Matej - Diagnostics, 2021 - mdpi.com
… disorder of motor neurons that overlaps with frontotemporal lobar degeneration (FTLD) [1].
ALS is a motor neuron disorder (MND), lateral sclerosis, and spinal muscular atrophies [2]. …
ALS is a motor neuron disorder (MND), lateral sclerosis, and spinal muscular atrophies [2]. …
[HTML][HTML] The role of sequestosome 1/p62 protein in amyotrophic lateral sclerosis and frontotemporal dementia pathogenesis
AD Foster, SL Rea - Neural Regeneration Research, 2020 - journals.lww.com
… in amyotrophic lateral sclerosis and frontotemporal lobar degeneration, and mutations that
affect … We searched for the terms p62 and SQSTM1 in combination with neurodegeneration, …
affect … We searched for the terms p62 and SQSTM1 in combination with neurodegeneration, …
[HTML][HTML] Cerebellar Ataxia in Adults with SQSTM1‐Associated Frontotemporal Dementia–Amyotrophic Lateral Sclerosis Spectrum of Disorders
… paraparesis, primary progressive multiple sclerosis, and amyotrophic lateral sclerosis (ALS)–…
Clinical exome sequencing revealed a heterozygous SQSTM1 splice site variant c.1166–2 …
Clinical exome sequencing revealed a heterozygous SQSTM1 splice site variant c.1166–2 …
[PDF][PDF] Compound heterozygote mutations in the SIGMAR1 gene in an oldest-old patient with amyotrophic lateral sclerosis
S FUS - 2018 - researchgate.net
… of oldest old subjects with amyotrophic lateral sclerosis. … receptor 1 mutations cause
frontotemporal lobar degeneration-… amyotrophic lateral sclerosis without frontotemporal lobar …
frontotemporal lobar degeneration-… amyotrophic lateral sclerosis without frontotemporal lobar …
[HTML][HTML] Lysosome dysfunction as a cause of neurodegenerative diseases: Lessons from frontotemporal dementia and amyotrophic lateral sclerosis
… FTD is the clinical manifestation of frontotemporal lobar degeneration (FTLD) neuropathology.
The broad clinical phenotype of FTD is divided into language or progressive deficits in …
The broad clinical phenotype of FTD is divided into language or progressive deficits in …
Neuroimaging correlates of frontotemporal dementia associated with SQSTM1 mutations
… Rare SQSTM1 gene mutations have been associated with Paget’s disease of bone,
amyotrophic lateral sclerosis, and, more recently, frontotemporal lobar degeneration (FTLD). …
amyotrophic lateral sclerosis, and, more recently, frontotemporal lobar degeneration (FTLD). …
Lysosomal dysfunction at the centre of Parkinson's disease and frontotemporal dementia/amyotrophic lateral sclerosis
… Parkinson’s disease (PD) and frontotemporal dementia/amyotrophic lateral sclerosis (FTD/ALS)
are insidious and incurable neurodegenerative diseases that represent a significant …
are insidious and incurable neurodegenerative diseases that represent a significant …