Last Updated: 09/26/2026
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Found 8 publications
Tarui Disease Caused by a Novel PFKM Genetic Variant in a Sub-Saharan African Patient.
Journal: Journal of clinical neuromuscular disease
Published: February 21, 2022
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
Journal: Nature communications
Published: February 01, 2022
Evaluation of the use of the Scale for the Assessment and Rating of Ataxia (SARA) in healthy volunteers and patients with schizophrenia.
Journal: Journal of the neurological sciences
Published: October 30, 2017
Defining SOD1 ALS natural history to guide therapeutic clinical trial design.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: March 10, 2016
Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.
Journal: Annals of neurology
Published: September 08, 2014
Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis.
Journal: Neurobiology of aging
Published: December 31, 2012
Showing 1-8 of 8
Last Updated: 09/26/2026