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   Articles with "neuron involvement" as a keyword



Motor Neuron Involvement in Two ATP13A2‐Related Families: ALS And HSP‐Like Phenotypes

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recommendations! Published in 2025 at "Movement Disorders Clinical Practice"

DOI: 10.1002/mdc3.70027

Abstract: Mutations in the ATP13A2 gene have been implicated in various neurodegenerative disorders, including Kufor‐Rakeb syndrome (KRS), neuronal ceroid lipofuscinosis (NCL), hereditary spastic paraplegia (HSP), and amyotrophic lateral sclerosis (ALS). This report presents two Iranian families… read more here.

Keywords: neuron involvement; motor neuron; involvement two; two atp13a2 ... See more keywords

Motor neuron involvement in anti-Ma2-associated paraneoplastic neurological syndrome

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recommendations! Published in 2018 at "Journal of Neurology"

DOI: 10.1007/s00415-018-9143-x

Abstract: ObjectiveTo present clinical, radiological, and pathological features of a cohort of patients with motor neuron involvement in association with anti-Ma2 antibodies (Ma2-Ab).MethodsRetrospective case-series of patients with definite paraneoplastic neurological syndrome (PNS) and Ma2-Ab, and cases… read more here.

Keywords: ma2; neuron involvement; syndrome; motor neuron ... See more keywords

A case of motor neuron involvement in Gaucher disease

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recommendations! Published in 2019 at "Molecular Genetics and Metabolism Reports"

DOI: 10.1016/j.ymgmr.2019.100540

Abstract: Gaucher disease (GD) is a genetic disorder characterized by an accumulation of glucosylceramide in cells in the monocyte-macrophage system. We describe a case of a 33-year-old man with a previous diagnosis of type 3 GD… read more here.

Keywords: gaucher; gaucher disease; neuron involvement; motor neuron ... See more keywords

Association of the risk factor UNC13A with survival and upper motor neuron involvement in amyotrophic lateral sclerosis

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recommendations! Published in 2023 at "Frontiers in Aging Neuroscience"

DOI: 10.3389/fnagi.2023.1067954

Abstract: Background The UNC13A gene is an established susceptibility locus for amyotrophic lateral sclerosis (ALS) and a determinant of shorter survival after disease onset, with up to 33.0 months difference in life expectancy for carriers of… read more here.

Keywords: upper motor; motor; neuron involvement; motor neuron ... See more keywords