Lafora Disease Latest Advances

ERBB4 colocalizes with phosphorylated tau aggregates in multiple tauopathies.

Journal: Neurochemistry international

Published: November 21, 2025

New therapeutic strategies for Lafora disease: Evaluation of the safety, efficacy, pharmacokinetics and metabolomic profile of intravenous VAL-1221 treatment.

Journal: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

Published: October 13, 2025

A novel Lafora disease astrocytic cellular model to study polyglucosan accumulation and inflammation.

Journal: Disease models & mechanisms

Published: September 17, 2025

Persistent lymphopenia in a Japanese boy with neuronal ceroid lipofuscinosis type 3.

Journal: European journal of medical genetics

Published: September 05, 2025

Axonal polyneuropathy in Lafora disease with a newly identified EPM2A mutation: a case report and review of literature.

Journal: Journal of neurology

Published: September 04, 2025

Challenges in Polyglutamine Diseases: From Dysfunctional Neuronal Circuitries to Neuron-Specific CAG Repeat Instability.

Journal: International journal of molecular sciences

Published: August 21, 2025

Disrupted Transcriptional Networks by Mutant Atrophin-1 in a Cell Culture Model of Dentatorubral-Pallidoluysian Atrophy.

Journal: bioRxiv : the preprint server for biology

Published: August 20, 2025

Case Report: Compound heterozygous KCTD7 variants in two siblings presenting with myoclonic epilepsy and ataxia.

Journal: Frontiers in neuroscience

Published: August 18, 2025

Gut instinct: microbiome as a modifiable target in the management of neurologic symptoms in myoclonic epilepsy with ragged-red fibers (MERRF).

Journal: Annals of medicine and surgery (2012)

Published: August 07, 2025

Disrupted Transcriptional Networks in Mammalian Cells Stably Over-Expressing Pathogenic Atrophin-1.

Journal: Journal of neuroscience research

Published: July 11, 2025

Beyond Seizures: A Comprehensive Review of Giant Somatosensory Evoked Potentials.

Journal: Journal of clinical medicine

Published: July 10, 2025

Correction for Article Title "The laforin-malin complex, involved in Lafora disease, promotes the incorporation of K63-linked ubiquitin chains into AMP-activated protein kinase beta subunits".

Journal: Molecular biology of the cell

Published: July 01, 2025

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ERBB4 colocalizes with phosphorylated tau aggregates in multiple tauopathies.

ERBB4 colocalizes with phosphorylated tau aggregates in multiple tauopathies.

New therapeutic strategies for Lafora disease: Evaluation of the safety, efficacy, pharmacokinetics and metabolomic profile of intravenous VAL-1221 treatment.

New therapeutic strategies for Lafora disease: Evaluation of the safety, efficacy, pharmacokinetics and metabolomic profile of intravenous VAL-1221 treatment.

A novel Lafora disease astrocytic cellular model to study polyglucosan accumulation and inflammation.

A novel Lafora disease astrocytic cellular model to study polyglucosan accumulation and inflammation.

Persistent lymphopenia in a Japanese boy with neuronal ceroid lipofuscinosis type 3.

Persistent lymphopenia in a Japanese boy with neuronal ceroid lipofuscinosis type 3.

Axonal polyneuropathy in Lafora disease with a newly identified EPM2A mutation: a case report and review of literature.

Axonal polyneuropathy in Lafora disease with a newly identified EPM2A mutation: a case report and review of literature.

Challenges in Polyglutamine Diseases: From Dysfunctional Neuronal Circuitries to Neuron-Specific CAG Repeat Instability.

Challenges in Polyglutamine Diseases: From Dysfunctional Neuronal Circuitries to Neuron-Specific CAG Repeat Instability.

Disrupted Transcriptional Networks by Mutant Atrophin-1 in a Cell Culture Model of Dentatorubral-Pallidoluysian Atrophy.

Disrupted Transcriptional Networks by Mutant Atrophin-1 in a Cell Culture Model of Dentatorubral-Pallidoluysian Atrophy.

Case Report: Compound heterozygous KCTD7 variants in two siblings presenting with myoclonic epilepsy and ataxia.

Case Report: Compound heterozygous KCTD7 variants in two siblings presenting with myoclonic epilepsy and ataxia.

Gut instinct: microbiome as a modifiable target in the management of neurologic symptoms in myoclonic epilepsy with ragged-red fibers (MERRF).

Gut instinct: microbiome as a modifiable target in the management of neurologic symptoms in myoclonic epilepsy with ragged-red fibers (MERRF).

Disrupted Transcriptional Networks in Mammalian Cells Stably Over-Expressing Pathogenic Atrophin-1.

Disrupted Transcriptional Networks in Mammalian Cells Stably Over-Expressing Pathogenic Atrophin-1.

Beyond Seizures: A Comprehensive Review of Giant Somatosensory Evoked Potentials.

Beyond Seizures: A Comprehensive Review of Giant Somatosensory Evoked Potentials.

Correction for Article Title "The laforin-malin complex, involved in Lafora disease, promotes the incorporation of K63-linked ubiquitin chains into AMP-activated protein kinase beta subunits".

Correction for Article Title "The laforin-malin complex, involved in Lafora disease, promotes the incorporation of K63-linked ubiquitin chains into AMP-activated protein kinase beta subunits".