Clinical and molecular spectrum of a large Egyptian cohort with ALS2-related disorders of infantile-onset of clinical continuum IAHSP/JPLS.
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DOI: 10.1111/cge.14338
Abstract: This study presents 46 patients from 23 unrelated Egyptian families with ALS2-related disorders without evidence of lower motor neuron involvement. Age at onset ranged from 10 months to 2.5 years, featuring progressive upper motor neuron signs. Detailed… read more here.
Keywords: als2 related; spectrum; related disorders; cohort ... See more keywords
ALS2-Related Motor Neuron Diseases: From Symptoms to Molecules
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DOI: 10.3390/biology11010077
Abstract: Simple Summary Mutations of the ALS2 gene, which encodes for the protein Alsin, are linked to three recessive motor neuron diseases characterized by early onset. Alsin is an intriguing protein characterized by several structured domains… read more here.
Keywords: als2 related; alsin; neuron diseases; motor neuron ... See more keywords