Comments on “Camptocormia as presenting in lower motor neuron disease with TARDBP mutation: case report”
Sign Up to like & getrecommendations! Published in 2017 at "Neurological Sciences"
DOI: 10.1007/s10072-017-3060-0
Abstract: Recently, Camptocormia raised some interest as a motor neuron disease symptom as shown in a recent letter [1]. We read on the Neurological Sciences journal that piece, entitled BCamptocormia as presenting in lower motor neuron… read more here.
Keywords: neuron disease; motor neuron; case report;
Structural and functional brain signatures of C9orf72 in motor neuron disease
Sign Up to like & getrecommendations! Published in 2017 at "Neurobiology of Aging"
DOI: 10.1016/j.neurobiolaging.2017.05.024
Abstract: This study investigated structural and functional magnetic resonance imaging abnormalities in hexanucleotide repeat expansion in chromosome 9 open reading frame 72 (C9orf72) motor neuron disease (MND) relative to disease severity-matched sporadic MND cases. We enrolled… read more here.
Keywords: c9orf72 motor; motor neuron; disease; structural functional ... See more keywords
Genetic testing for monogenic forms of motor neuron disease/amyotrophic lateral sclerosis in unaffected family members
Sign Up to like & getrecommendations! Published in 2024 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-024-01718-4
Abstract: Motor neuron disease (MND), also referred to as amyotrophic lateral sclerosis (ALS), is a monogenic disease in a minority of cases, with autosomal dominant inheritance. Increasing numbers of people with MND are requesting genetic testing,… read more here.
Keywords: disease; motor neuron; neuron disease; amyotrophic lateral ... See more keywords
Macroglossia in primary lateral sclerosis: a case report
Sign Up to like & getrecommendations! Published in 2019 at "International Journal of Neuroscience"
DOI: 10.1080/00207454.2019.1645141
Abstract: Abstract Purpose/Aim: Macroglossia is a rare condition, especially in patients with motor neuron disease. In this case report, we describe a patient with macroglossia in the early stages of motor neuron disease. Case report: A… read more here.
Keywords: primary lateral; motor neuron; report; neuron disease ... See more keywords
Cerebrospinal fluid neurofilament light concentration in motor neuron disease and frontotemporal dementia predicts survival
Sign Up to like & getrecommendations! Published in 2017 at "Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration"
DOI: 10.1080/21678421.2017.1281962
Abstract: Abstract Objective: To aid diagnostics, patient stratification and studies seeking to find treatments for the related diseases motor neuron disease (MND) and frontotemporal dementia (FTD), there is a need to establish a way to assess… read more here.
Keywords: frontotemporal dementia; neurofilament light; motor neuron; disease ... See more keywords
Motor neuron disease mortality rates in New Zealand 1992–2013
Sign Up to like & getrecommendations! Published in 2018 at "Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration"
DOI: 10.1080/21678421.2018.1432660
Abstract: Abstract Background: We determined the mortality rates of motor neuron disease (MND) in New Zealand over 22 years from 1992 to 2013. Previous studies have found an unusually high and/or increasing incidence of MND in… read more here.
Keywords: new zealand; motor neuron; mortality; mortality rates ... See more keywords
Progression and survival of patients with motor neuron disease relative to their fecal microbiota
Sign Up to like & getrecommendations! Published in 2020 at "Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration"
DOI: 10.1080/21678421.2020.1772825
Abstract: Abstract Gut microbiota studies have been well-investigated for neurodegenerative diseases such as Alzheimer’s and Parkinson’s disease, however, fewer studies have comprehensively examined the gut microbiome in Motor Neuron Disease (MND), with none examining its impact… read more here.
Keywords: microbiota; motor neuron; disease; gut microbiota ... See more keywords
Motor neuron disease in three asymptomatic pVal50Met TTR gene carriers
Sign Up to like & getrecommendations! Published in 2022 at "Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration"
DOI: 10.1080/21678421.2022.2029899
Abstract: Abstract We describe three unrelated patients with sporadic motor neuron disease (MND) and hereditary amyloid transthyretin (ATTRv) amyloidosis family history, who were asymptomatic carriers of the pVal50Met mutation of transthyretin (TTR) gene. Patients 1 and… read more here.
Keywords: ttr gene; gene; neuron disease; motor neuron ... See more keywords
Diverse effects of coexpression of human SOD1 variants on motor neuron disease
Sign Up to like & getrecommendations! Published in 2025 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddaf088
Abstract: Abstract Mutations in superoxide dismutase-1 (SOD1) are a common cause of amyotrophic lateral sclerosis (ALS). Inheritance is as a rule dominant, but in carriers of the most common mutation, D90A, disease can develop in both… read more here.
Keywords: disease; motor neuron; neuron disease; sod1 ... See more keywords
A report on paraneoplastic motor neuron disease
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DOI: 10.1097/cm9.0000000000000128
Abstract: Additional testing, including various laboratory diagnosTo the Editor:Motor neuron disease (MND) is marked by upper (UMN) or lower (LMN) motor neuron signs and [1] tics (eg, anti-GM1, anti-GD1b, anti-GQ1b antibodies, and symptoms, which in various… read more here.
Keywords: neuron disease; motor; motor neuron; report paraneoplastic ... See more keywords
A Fully Implantable Opto-Electro Closed-Loop Neural Interface for Motor Neuron Disease Studies
Sign Up to like & getrecommendations! Published in 2022 at "IEEE Transactions on Biomedical Circuits and Systems"
DOI: 10.1109/tbcas.2022.3202026
Abstract: This paper presents a fully implantable closed-loop device for use in freely moving rodents to investigate new treatments for motor neuron disease. The 0.18 μm CMOS integrated circuit comprises 4 stimulators, each featuring 16 channels… read more here.
Keywords: fully implantable; neuron disease; closed loop; motor neuron ... See more keywords