Giovanni Stevanin

16PUBLICATIONS
136CO-AUTHORS
Biomedical imagingNeurology and neuromuscular diseasesAnthropological geneticsNeurogeneticsTe hītori ahurea Māori (Māori cultural history)
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Publications (16)

|Aug 13, 2026
Functional Homology of WIPI4 and Atg18 Enables WDR45 Variant Interpretation for BPAN Diagnosis.

|Nov 28, 2025
Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia.

Rui Zhu, Lang Liu, Mehrdad A Estiar

|Nov 24, 2025
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.

Pritha Bisarad, Yung-Chun Wang, Peter T Skidmore

|Jun 25, 2025
Experience in the clinical and genetic diagnosis of a series of Algerian patients with hereditary spastic paraplegias.

Mouna Messaoud-Khelifi, Razika Boulariah-Hadjou, Mohamed Islam Kediha

|Feb 28, 2024
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses.

Dévina C Ung, Nicolas Pietrancosta, Elena Baz Badillo

|Nov 13, 2023
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage.

Sandra Martins, Ashraf Yahia, Inês P D Costa

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Frequent Collaborators

3 joint publications

Alexandra Durr

2 joint publications

Mustafa A Salih

2 joint publications

Khalid Hamid El Hachimi

2 joint publications

Mahmoud Koko