Myoclonus-Dystonia Latest Advances

Identification and prenatal genetic testing of pathogenic variants in a case of myoclonus-dystonia syndrome.

Journal: Yi chuan = Hereditas

Published: June 17, 2026

A novel KCTD17 mutation in a Chinese family associated with myoclonus dystonia.

Journal: Parkinsonism & related disorders

Published: March 18, 2026

Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant.

Journal: European journal of medical genetics

Published: January 28, 2026

Childhood-Onset Myoclonus-Dystonia Due to KCTD17 Mutation: A Case Report and Review of Diagnostic Challenges.

Journal: Tremor and other hyperkinetic movements (New York, N.Y.)

Published: January 20, 2026

A New Case of a Neurodevelopmental Disorder and Myoclonic Dystonia Associated with the C.1404del Variant of the ATP5F1A Gene.

Journal: International medical case reports journal

Published: October 09, 2025

Myoclonus, dystonia and parkinsonism due to a de novo novel variant in the NUS1 gene: Furthering the epilepsy-dyskinesia spectrum - Expert commentary.

Journal: Parkinsonism & related disorders

Published: September 19, 2025

Divergent Cerebello-Cortical Network Responses to Emotional Stress in Myoclonus Dystonia.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: August 25, 2025

Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant.

Journal: European journal of medical genetics

Published: July 09, 2025

Long-Term Efficacy of Bilateral Globus Pallidus Internus Deep Brain Stimulation in Myoclonus-Dystonia Associated with KCNN2 Gene Mutation: A Case Study.

Journal: International journal of molecular sciences

Published: July 05, 2025

Next move in movement disorders (NEMO): the best clinical tasks for the visibility of essential tremor, dystonia, cortical myoclonus and myoclonus-dystonia.

Journal: Parkinsonism & related disorders

Published: May 20, 2025

Deep Brain Stimulation in Children and Adolescents with ε-Sarcoglycan Myoclonus Dystonia Causes a Sustained Improvement in Motor Functionality and Quality of Life.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: February 03, 2025

Historia natural de la distonía mioclónica asociada a variantes de SGCE en niños y adolescentes.

Journal: Developmental medicine and child neurology

Published: January 31, 2025

Myoclonus-Dystonia Latest Advances

Find the Latest Research About Myoclonus-Dystonia

Identification and prenatal genetic testing of pathogenic variants in a case of myoclonus-dystonia syndrome.

Identification and prenatal genetic testing of pathogenic variants in a case of myoclonus-dystonia syndrome.

A novel KCTD17 mutation in a Chinese family associated with myoclonus dystonia.

A novel KCTD17 mutation in a Chinese family associated with myoclonus dystonia.

Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant.

Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant.

Childhood-Onset Myoclonus-Dystonia Due to KCTD17 Mutation: A Case Report and Review of Diagnostic Challenges.

Childhood-Onset Myoclonus-Dystonia Due to KCTD17 Mutation: A Case Report and Review of Diagnostic Challenges.

A New Case of a Neurodevelopmental Disorder and Myoclonic Dystonia Associated with the C.1404del Variant of the ATP5F1A Gene.

A New Case of a Neurodevelopmental Disorder and Myoclonic Dystonia Associated with the C.1404del Variant of the ATP5F1A Gene.

Myoclonus, dystonia and parkinsonism due to a de novo novel variant in the NUS1 gene: Furthering the epilepsy-dyskinesia spectrum - Expert commentary.

Myoclonus, dystonia and parkinsonism due to a de novo novel variant in the NUS1 gene: Furthering the epilepsy-dyskinesia spectrum - Expert commentary.

Divergent Cerebello-Cortical Network Responses to Emotional Stress in Myoclonus Dystonia.

Divergent Cerebello-Cortical Network Responses to Emotional Stress in Myoclonus Dystonia.

Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant.

Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant.

Long-Term Efficacy of Bilateral Globus Pallidus Internus Deep Brain Stimulation in Myoclonus-Dystonia Associated with KCNN2 Gene Mutation: A Case Study.

Long-Term Efficacy of Bilateral Globus Pallidus Internus Deep Brain Stimulation in Myoclonus-Dystonia Associated with KCNN2 Gene Mutation: A Case Study.

Next move in movement disorders (NEMO): the best clinical tasks for the visibility of essential tremor, dystonia, cortical myoclonus and myoclonus-dystonia.

Next move in movement disorders (NEMO): the best clinical tasks for the visibility of essential tremor, dystonia, cortical myoclonus and myoclonus-dystonia.

Deep Brain Stimulation in Children and Adolescents with ε-Sarcoglycan Myoclonus Dystonia Causes a Sustained Improvement in Motor Functionality and Quality of Life.

Deep Brain Stimulation in Children and Adolescents with ε-Sarcoglycan Myoclonus Dystonia Causes a Sustained Improvement in Motor Functionality and Quality of Life.

Historia natural de la distonía mioclónica asociada a variantes de SGCE en niños y adolescentes.

Historia natural de la distonía mioclónica asociada a variantes de SGCE en niños y adolescentes.