GS
Giovanni Stévanin

Publications (8)

Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage
Article scientifique · 2023
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degeneration
Article scientifique · 2022
Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia
Article scientifique · 2021
A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report
Article scientifique · 2021
Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family
Article scientifique · 2020
Exome Sequencing Revealed Mutations in ADAT3 and HERC2 Genes in two Sudanese Families with Syndromic Mental Retardation
Article scientifique · 2020
Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report
Article scientifique · 2018
Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family
Article scientifique · 2018

Domaines principaux

Sciences de la santé6 Sciences de la vie et biotechnologies2

Statistiques

Consultations25
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