Giovanni Stevanin

Rotterdam, ZH, Netherlands

Last Updated: 09/26/2026

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Found 147 publications

Functional Homology of WIPI4 and Atg18 Enables WDR45 Variant Interpretation for BPAN Diagnosis.

Functional Homology of WIPI4 and Atg18 Enables WDR45 Variant Interpretation for BPAN Diagnosis.

Journal: International journal of molecular sciences

Published: July 09, 2026

Hereditary spastic paraplegia of type 11: towards therapeutic options

Hereditary spastic paraplegia of type 11: towards therapeutic options

Journal: Medecine sciences : M/S

Published: December 12, 2025

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.

Journal: medRxiv : the preprint server for health sciences

Published: November 24, 2025

Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia.

Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia.

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

Published: September 24, 2025

The RAB3A hot spot variant R83W causes spasticity as part of the ataxia-spasticity spectrum.

The RAB3A hot spot variant R83W causes spasticity as part of the ataxia-spasticity spectrum.

Journal: Brain : a journal of neurology

Published: September 15, 2025

Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders.

Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders.

Journal: BMC medicine

Published: July 29, 2025

Globalizing newborn screening: bridging gaps in genetic diagnosis and treatment.

Globalizing newborn screening: bridging gaps in genetic diagnosis and treatment.

Journal: Frontiers in pediatrics

Published: July 28, 2025

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Journal: Nature medicine

Published: June 19, 2025

Editorial: Translational research in hereditary spastic paraplegias: filling the diagnosis gap and therapeutic perspectives.

Editorial: Translational research in hereditary spastic paraplegias: filling the diagnosis gap and therapeutic perspectives.

Journal: Frontiers in neuroscience

Published: March 18, 2025

Experience in the clinical and genetic diagnosis of a series of Algerian patients with hereditary spastic paraplegias.

Experience in the clinical and genetic diagnosis of a series of Algerian patients with hereditary spastic paraplegias.

Journal: Neurogenetics

Published: March 12, 2025

Hereditary Spastic Paraplegia Linked to Abnormal Splicing From an AIMP1 Missense Variant.

Hereditary Spastic Paraplegia Linked to Abnormal Splicing From an AIMP1 Missense Variant.

Journal: Clinical genetics

Published: October 14, 2024

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

Journal: European journal of neurology

Published: August 26, 2024

Showing 1-12 of 147

Last Updated: 09/26/2026