Giovanni Stevanin
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Explore the profile of Giovanni Stevanin including associated specialties, affiliations and a list of published articles.
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198
Citations
6032
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Recent Articles
1.
Toupenet Marchesi L, Stockholm D, Esteves T, Leblanc M, Auger N, Branchu J, et al.
Sci Rep
. 2025 Jan;
15(1):2370.
PMID: 39827309
Hereditary spastic paraplegia (HSP) encompasses a group of rare genetic diseases primarily affecting motor neurons. Among these, spastic paraplegia type 11 (SPG11) represents a complex form of HSP caused by...
2.
Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer A, et al.
Nat Med
. 2025 Jan;
31(2):478-489.
PMID: 39825153
Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource,...
3.
Degoutin M, Angelini C, Bar C, El Khedoud W, Barnerias C, Boulariah-Hadjou R, et al.
Eur J Neurol
. 2024 Dec;
32(1):e70025.
PMID: 39731306
Purpose: Heterozygous pathogenic variants in SPAST are known to cause Hereditary Spastic Paraplegia 4 (SPG4), the most common form of HSP, characterized by progressive bilateral lower limbs spasticity with frequent...
4.
Morais S, Leal Loureiro J, Brandao E, Sequeiros J, Stevanin G, Santos M
Clin Genet
. 2024 Dec;
PMID: 39726207
Hereditary spastic paraplegias (HSP) are a diverse group of neurodegenerative diseases characterized by lower limb spasticity and weakness. To date, over 80 genes have been associated with HSP, but many...
5.
Cogan G, Zaki M, Issa M, Keren B, Guillaud-Bataille M, Renaldo F, et al.
Hum Genet
. 2024 Oct;
143(11):1353-1362.
PMID: 39367212
Biallelic variants in the ERLIN1 gene were recently reported as the cause of two motor neuron degeneration diseases, SPG62 and a recessive form of amyotrophic lateral sclerosis. However, only 12...
6.
Fortier M, Cauhape M, Buono S, Becker J, Menuet A, Branchu J, et al.
Neurobiol Dis
. 2024 Jun;
199:106564.
PMID: 38876323
Biallelic variants in the SPG11 gene account for the most common form of autosomal recessive hereditary spastic paraplegia characterized by motor and cognitive impairment, with currently no therapeutic option. We...
7.
Horner M, Popp S, Branchu J, Stevanin G, Darios F, Klebe S, et al.
Front Neurosci
. 2024 Mar;
18:1299554.
PMID: 38435059
We have previously demonstrated that neuroinflammation by the adaptive immune system acts as a robust and targetable disease amplifier in a mouse model of Spastic Paraplegia, type 11 (SPG11), a...
8.
Ung D, Pietrancosta N, Badillo E, Raux B, Tapken D, Zlatanovic A, et al.
Mol Psychiatry
. 2024 Feb;
29(4):1205-1215.
PMID: 38418578
The ionotropic glutamate delta receptor GluD1, encoded by the GRID1 gene, is involved in synapse formation, function, and plasticity. GluD1 does not bind glutamate, but instead cerebellin and D-serine, which...
9.
Heide S, Davoine C, Cunha P, Scherer-Gagou C, Keren B, Stevanin G, et al.
Neurol Genet
. 2024 Jan;
9(6):e200096.
PMID: 38235039
Background And Objectives: Neurodevelopmental and neurodegenerative disorders have long been considered as different clinical and molecular entities, and only a few genes are known to be involved in both processes....
10.
Mereaux J, Davoine C, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, et al.
EBioMedicine
. 2023 Dec;
99:104931.
PMID: 38150853
Background: SCA27B caused by FGF14 intronic heterozygous GAA expansions with at least 250 repeats accounts for 10-60% of cases with unresolved cerebellar ataxia. We aimed to assess the size and...