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Last Updated: 03/06/2025
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Found 1587 publications
Lafora Disease Presenting with Ataxia and DM1: A Case Study.
Journal: Acta neurologica Taiwanica
Published: January 02, 2025
Insights into Dentatorubral-Pallidoluysian Atrophy from a new Drosophila model of disease.
Journal: bioRxiv : the preprint server for biology
Published: December 23, 2024
Two cases of genetically proven SCARB2-Related Progressive Myoclonic Epilepsy without renal failure: A report from India.
Journal: Journal of movement disorders
Published: October 27, 2024
Clinical characteristics of children with MT-TK gene m.8344A>G variation
Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: October 21, 2024
Progressive Myoclonus Epilepsy and Beyond: A Systematic Review of SEMA6B-related Disorders.
Journal: Neuropediatrics
Published: October 17, 2024
Dapagliflozin ameliorates Lafora disease phenotype in a zebrafish model.
Journal: Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
Published: October 14, 2024
Sialidosis type 1 in a Turkish family: a case report and review of literatures.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: September 30, 2024
Glial alterations in the glutamatergic and GABAergic signaling pathways in a mouse model of Lafora disease, a severe form of progressive myoclonus epilepsy.
Journal: bioRxiv : the preprint server for biology
Published: September 24, 2024
Case series; NUS1 deletions cause a progressive myoclonic epilepsy with ataxia.
Journal: Seizure
Published: September 22, 2024
Last Updated: 03/06/2025