Claudio Melo de Gusmao

9PUBLICATIONS
23CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesGene mapping
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Publications (9)

|Jul 16, 2026
Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy.

|Jul 07, 2026
Novel Homozygous Pathogenic Variant in DNAJC6 Causes Rapid Progressive Parkinsonism.

|Jul 31, 2025
Juvenile Dystonia Associated with Heterozygous Missense Variant in KCNJ10.

Claudio M de de Gusmao, Sara C B Casagrande, Matheus A Castro

|Dec 02, 2024
KCNMA1-Related Episodes of Behavioral Arrest and Loss of Postural Reflexes: A Critical Reappraisal.

Emmanuel Roze, Laura Silveira-Moriyama, Smaranda Leu-Semenescu

|Mar 14, 2024
Teaching Video NeuroImage: Oculomotor Abnormalities in Patients With Alternating Hemiplegia of Childhood.

Andréia B Azzoni, Mayara T Sakuma, Leticia P Sampaio

|Jul 21, 2023
Scoping Review on ADCY5-Related Movement Disorders.

Poornima Jayadev Menon, Christelle Nilles, Laura Silveira-Moriyama

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Frequent Collaborators

3 joint publications

Laura Silveira-Moriyama

1 joint publications

Maya Chopra

1 joint publications

Darius Ebrahimi-Fakhari

1 joint publications

Mustafa Sahin