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Mutations of optineurin in amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) has its onset in middle age and is a progressive disorder characterized by degeneration of motor neurons of the primary motor cortex, brainstem and spinal cord.Expand
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Drug Screening for ALS Using Patient-Specific Induced Pluripotent Stem Cells
Anacardic acid attenuates mutant TDP-43–associated abnormalities in motor neurons derived from ALS patient–specific induced pluripotent stem cells. A Stepping Stone to ALS Drug Screening AmyotrophicExpand
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Optineurin is co-localized with FUS in basophilic inclusions of ALS with FUS mutation and in basophilic inclusion body disease
We recently reported that mutations in the gene encoding optineurin (OPTN) cause amyotrophic lateral sclerosis (ALS) [2]. In that report, we demonstrated the co-localization of OPTN with TARExpand
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Reduction rate of body mass index predicts prognosis for survival in amyotrophic lateral sclerosis: A multicenter study in Japan
Malnutrition in the early stage has been reported as an independent predictor of survival in amyotrophic lateral sclerosis (ALS). We analyzed retrospectively the effect of variation of body massExpand
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Prominent sensory and autonomic disturbances in familial amyotrophic lateral sclerosis with a Gly93Ser mutation in the SOD1 gene
A missense mutation (Gly93-->Ser) was identified in exon 4 of the Cu/Zn superoxide dismutase (SOD1) gene of a 48-year-old Japanese man with familial amyotrophic lateral sclerosis (FALS). The SOD1Expand
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Neck weakness is a potent prognostic factor in sporadic amyotrophic lateral sclerosis patients
Objective To clarify the emergence of muscle weakness in regions of the body that affect survival, and deterioration in activities of daily living (ADL) in amyotrophic lateral sclerosis (ALS)Expand
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The crucial role of caspase‐9 in the disease progression of a transgenic ALS mouse model
Mutant copper/zinc superoxide dismutase (SOD1)‐overexpressing transgenic mice, a mouse model for familial amyotrophic lateral sclerosis (ALS), provides an excellent resource for developing novelExpand
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Participation of the limbic system and its associated areas in the dementia of amyotrophic lateral sclerosis
The topographic distribution of degenerative changes in large brain sections from five sporadic amyotrophic lateral sclerosis (ALS) patients with dementia and three without dementia was examined. TheExpand
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Predictors of impaired communication in amyotrophic lateral sclerosis patients with tracheostomy-invasive ventilation
Predictors of communication impairment in patients with amyotrophic lateral sclerosis (ALS) using tracheostomy-invasive ventilation (TIV) were investigated. Seventy-six ALS patients using TIV wereExpand
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Autonomic failure in ALS with a novel SOD1 gene mutation
Article abstract The authors report a patient with ALS and a novel SOD1 gene mutation who was in the totally locked-in state and developed autonomic failure followed by sudden cardiac arrest. AExpand
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