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Amyotrophic lateral sclerosis [PDF]
Orphanet Journal of Rare Diseases, 2009 Abstract Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterised by progressive muscular paralysis reflecting degeneration of motor neurones in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.
Leigh P Nigel, Wijesekera Lokesh C
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The landscape of cognitive impairment in superoxide dismutase 1-amyotrophic lateral sclerosis
Neural Regeneration Research, 2023 Although mutations in the superoxide dismutase 1 gene account for only a minority of total amyotrophic lateral sclerosis cases, the discovery of this gene has been crucial for amyotrophic lateral sclerosis research. Since the identification of superoxide
Ilaria Martinelli +6 more
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H63D CG genotype of HFE is associated with increased risk of sporadic amyotrophic lateral sclerosis in a single population [PDF]
Journal of Integrative Neuroscience, 2020 This paper describes the genetic etiology of sporadic amyotrophic lateral sclerosis in a single population. Polymerase chain reaction-restriction fragment length polymorphism and DNA sample sequencing of 3 common HFE gene variants (C282Y and H63D and ...
Qing-Qing Zhang, Hong Jiang, Chun-Yan Li, Ya-Ling Liu, Xin-Ying Tian
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Neural Regeneration Research, 2021 Creatine kinase is a muscle enzyme that has been reported at various levels in different studies involving patients with amyotrophic lateral sclerosis.
Xue-Ping Chen +10 more
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Neural Regeneration Research, 2022 Amyotrophic lateral sclerosis is a fatal neurodegenerative disease characterized by progressive muscle wasting, breathing and swallowing difficulties resulting in patient’s death in two to five years after disease onset. In amyotrophic lateral sclerosis,
Maria N Zakharova, Anna A Abramova
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Nature Genetics, 2021 Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies.
W. V. Rheenen +191 more
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Occasional essay: upper motor neuron syndrome in amyotrophic lateral sclerosis [PDF]
, 2020 The diagnosis of amyotrophic lateral sclerosis (ALS) requires recognition of both lower (LMN) and upper motor neuron (UMN) dysfunction.1 However, classical UMN signs are frequently difficult to identify in ALS.2 LMN involvement is sensitively detected ...
Burke, David +6 more
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, 2020 Chapter to be included in the volume Pragmatic Language Disorders: Complex and Underserved Populations, Ed. Louise Cummings, Springer, 2020. It reviews findings that have contributed to our understanding of pragmatic impairment in ALS.
Ceroni, Mauro, Bambini , Valentina
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Frontiers in Neurology, 2020 Objective: To analyze those factors contributing to the diagnostic delay in ALS.Methods: Consecutive ALS patients were categorized as those studied in departmental hospitals and those studied in a referral ALS center.
Marina Martínez-Molina +16 more
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Amyotrophic lateral sclerosis: a clinical review
European Journal of Neurology, 2020 Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting primarily the motor system, but in which extra‐motor manifestations are increasingly recognized.
Pegah Masrori, P. van Damme
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