Current insights in the molecular genetic pathogenesis of amyotrophic lateral sclerosis
W Zhou, R Xu - Frontiers in Neuroscience, 2023 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a progressive and fatal neurodegenerative disease
that leads to the massive loss of motor neurons in cerebrum, brain stem and spinal cord. It …
that leads to the massive loss of motor neurons in cerebrum, brain stem and spinal cord. It …
Common mutations of interest in the diagnosis of amyotrophic lateral sclerosis: how common are common mutations in ALS genes?
B Perrone, FL Conforti - Expert Review of Molecular Diagnostics, 2020 - Taylor & Francis
Introduction Amyotrophic lateral sclerosis (ALS) is a complex neurodegenerative disease
predominantly affecting upper and lower motor neurons. Diagnosis of this devastating …
predominantly affecting upper and lower motor neurons. Diagnosis of this devastating …
Comparison of immune cells and diagnostic markers between spondyloarthritis and rheumatoid arthritis by bioinformatics analysis
J Wang, Y Xue, L Zhou - Journal of Translational Medicine, 2022 - Springer
Abstract Background Spondyloarthritis (SpA) and rheumatoid arthritis (RA) are chronic
autoimmune diseases, but they are usually difficult to distinguish in the early stage of the …
autoimmune diseases, but they are usually difficult to distinguish in the early stage of the …
Identification of contributing genes of Huntington's disease by machine learning
Background Huntington's disease (HD) is an inherited disorder caused by the polyglutamine
(poly-Q) mutations of the HTT gene results in neurodegeneration characterized by chorea …
(poly-Q) mutations of the HTT gene results in neurodegeneration characterized by chorea …
Bradykinesia in motoneuron diseases
G Paparella, M Ceccanti, D Colella… - Clinical …, 2021 - Elsevier
Objective Only few studies investigated voluntary movement abnormalities in patients with
motoneuron diseases (MNDs) or their neurophysiological correlates. We aimed to …
motoneuron diseases (MNDs) or their neurophysiological correlates. We aimed to …
Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations
Background SPG11 mutations can cause autosomal recessive hereditary spastic paraplegia
(ARHSP) and juvenile amyotrophic lateral sclerosis (JALS). Because these diseases share …
(ARHSP) and juvenile amyotrophic lateral sclerosis (JALS). Because these diseases share …
Identification of RNF13 as cause of recessively inherited ALS in a multi-case pedigree
Background Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease.
The approximately 50 known ALS-associated genes do not fully explain its heritability, which …
The approximately 50 known ALS-associated genes do not fully explain its heritability, which …
Bradykinesia in non-parkinsonian conditions: the emerging concept of a network disorder
G Paparella - 2021 - iris.uniroma1.it
Bradykinesia (movement slowness) is one of the cardinal motor symptoms of Parkinson‟ s
disease and atypical parkinsonism and it has hystorically been interpreted as a motor …
disease and atypical parkinsonism and it has hystorically been interpreted as a motor …