Gessica Vasco
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Explore the profile of Gessica Vasco including associated specialties, affiliations and a list of published articles.
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61
Citations
955
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Recent Articles
1.
Sartorelli J, Pomponi M, Garone G, Vasco G, Cumbo F, Colona V, et al.
Brain Sci
. 2025 Feb;
15(2).
PMID: 40002489
: Childhood-onset progressive ataxias are rare neurodegenerative disorders characterized by cerebellar signs, sometimes associated with other neurological or extra-neurological features. The autosomal dominant forms, known as spinocerebellar ataxias (SCAs), linked...
2.
Colona V, Garone G, Nicita F, Travaglini L, Pro S, Rossi-Espagnet M, et al.
Parkinsonism Relat Disord
. 2025 Jan;
107262.
PMID: 39779417
Segmental Brainstem Myoclonus (SBM) is a rare movement disorder characterized by rhythmic contractions of muscles innervated by brainstem segments. We report a 20-year-old patient with ADCK3-related spinocerebellar ataxia type 9...
3.
Sartorelli J, Travaglini L, Colona V, Casali C, Cumbo F, DAmico A, et al.
Cerebellum
. 2024 Sep;
23(6):2408-2413.
PMID: 39312122
Bi-allelic pathogenic variants in GRID2 have been initially associated to an autosomal recessive form of spinocerebellar ataxia, namely SCAR18. Subsequently, few monoallelic cases have been described. Here we present a...
4.
Cali E, Quirin T, Rocca C, Efthymiou S, Riva A, Marafi D, et al.
Genet Med
. 2024 Sep;
:101251.
PMID: 39275948
Purpose: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar...
5.
Amato M, Darling A, Stovickova L, Attard S, Eggink H, Engelen M, et al.
Eur J Paediatr Neurol
. 2024 Jul;
52:10-19.
PMID: 38970889
Aim: This exploratory study evaluates rating scale usage by experts from the European Reference Network for Rare Neurological Diseases (ERN-RND) for paediatric MD, considering factors like diagnosis, intellectual disability, age,...
6.
Brugger M, Lauri A, Zhen Y, Gramegna L, Zott B, Sekulic N, et al.
Am J Hum Genet
. 2024 Feb;
111(3):594-613.
PMID: 38423010
The endosomal sorting complex required for transport (ESCRT) machinery is essential for membrane remodeling and autophagy and it comprises three multi-subunit complexes (ESCRT I-III). We report nine individuals from six...
7.
Ilg W, Milne S, Schmitz-Hubsch T, Alcock L, Beichert L, Bertini E, et al.
Cerebellum
. 2023 Nov;
23(4):1566-1592.
PMID: 37955812
With disease-modifying drugs on the horizon for degenerative ataxias, ecologically valid, finely granulated, digital health measures are highly warranted to augment clinical and patient-reported outcome measures. Gait and balance disturbances...
8.
Vogel A, Sobanska A, Gupta A, Vasco G, Grobe-Einsler M, Summa S, et al.
Cerebellum
. 2023 Oct;
23(3):1128-1134.
PMID: 37897626
Dysarthria is a common and debilitating symptom of many neurodegenerative diseases, including those resulting in ataxia. Changes to speech lead to significant reductions in quality of life, impacting the speaker...
9.
Nanetti L, Kearney M, Boesch S, Stovickova L, Ortigoza-Escobar J, Macaya A, et al.
Neurol Sci
. 2023 Oct;
45(3):1007-1016.
PMID: 37853291
Background: Transition from child-centered to adult-centered healthcare is a gradual process that addresses the medical, psychological, and educational needs of young people in the management of their autonomy in making...
10.
Alkhalifa A, Chen S, Hasiloglu Z, Filosto M, Cali E, Houlden H, et al.
J Neurol
. 2023 Aug;
270(12):5784-5792.
PMID: 37578488
Background And Objectives: Hereditary spastic paraplegias (HSPs) are heterogenous genetic disorders characterized by progressive pyramidal tract involvement. SPG76 is a recently identified form of HSP, caused by biallelic calpain-1 (CAPN1)...