Dentatorubral-Pallidoluysian Atrophy Latest Advances

Infantile-Onset Unverricht-Lundborg Disease: A Unique Case With Severe Neurological Impairment and Positive Family History.

Journal: Journal of investigative medicine high impact case reports

Published: December 23, 2025

ERBB4 colocalizes with phosphorylated tau aggregates in multiple tauopathies.

Journal: Neurochemistry international

Published: November 21, 2025

Adeno-Associated Virus-Based Gene Therapy for Lafora Disease in Epm2b-Deficient Mice.

Journal: International journal of molecular sciences

Published: October 29, 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

KCTD7-related progressive myoclonic epilepsy: Clinical and genetic characterization of six Indian patients and review of literature.

Journal: Seizure

Published: October 03, 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

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Infantile-Onset Unverricht-Lundborg Disease: A Unique Case With Severe Neurological Impairment and Positive Family History.

Infantile-Onset Unverricht-Lundborg Disease: A Unique Case With Severe Neurological Impairment and Positive Family History.

ERBB4 colocalizes with phosphorylated tau aggregates in multiple tauopathies.

ERBB4 colocalizes with phosphorylated tau aggregates in multiple tauopathies.

Adeno-Associated Virus-Based Gene Therapy for Lafora Disease in Epm2b-Deficient Mice.

Adeno-Associated Virus-Based Gene Therapy for Lafora Disease in Epm2b-Deficient Mice.

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.

KCTD7-related progressive myoclonic epilepsy: Clinical and genetic characterization of six Indian patients and review of literature.

KCTD7-related progressive myoclonic epilepsy: Clinical and genetic characterization of six Indian patients and review of literature.

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).