Davide Pareyson
Overview
Explore the profile of Davide Pareyson including associated specialties, affiliations and a list of published articles.
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210
Citations
3457
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Recent Articles
1.
Vitali F, Fenu S, Izzo A, Montano N, Polli F, Rapisarda A, et al.
Neurol Sci
. 2025 Mar;
PMID: 40067405
Transthyretin amyloidosis (ATTR amyloidosis) is a rare systemic disorder characterized by the extracellular deposition of amyloid fibrils, which can affect multiple tissues. Lumbar spinal stenosis (LSS), a condition involving narrowing...
2.
De Grado A, Serio M, Saveri P, Pisciotta C, Pareyson D
Expert Rev Neurother
. 2025 Feb;
:1-16.
PMID: 40014417
Introduction: Charcot-Marie-Tooth disease (CMT) understanding and diagnostic rates are improving. Symptomatic management is still the only option, but many therapeutic approaches are under investigation, some in the clinical trial phase....
3.
Bertini A, Reilly M, Pisciotta C, Previtali S, Parman Y, Battaloglu E, et al.
Eur J Neurol
. 2025 Feb;
32(2):e70084.
PMID: 39943887
Background And Aims: In 2019, we conducted a cross-sectional study, collecting information on 50 patients with CMT4B, an ultrarare CMT subtype, to better define the clinical phenotype. We now aimed...
4.
Cortese A, Dohrn M, Curro R, Negri S, Lassuthova P, Pisciotta C, et al.
Brain
. 2025 Feb;
PMID: 39938083
Biallelic loss-of-function mutations in the sorbitol dehydrogenase (SORD) gene cause the most common recessive type of Charcot-Marie-Tooth disease (CMT), CMT-SORD. However, the full genotype-phenotype spectrum and progression of the disease...
5.
Huggett S, Tebbenkamp A, Rinaldi C, Jayaseelan D, Zampedri L, Blasi L, et al.
Neurology
. 2024 Nov;
103(12):e210088.
PMID: 39591556
Background And Objectives: Spinal and bulbar muscular atrophy (SBMA) is a rare, slowly progressive, and debilitating disease without effective treatments available. Lack of reliable biomarkers and sensitive outcome measures makes...
6.
Cozzi M, Magri S, Tedesco B, Patelli G, Ferrari V, Casarotto E, et al.
Cell Death Dis
. 2024 Sep;
15(9):692.
PMID: 39333504
Mutations targeting distinct domains of the neuron-specific kinesin KIF5A associate with different neurodegenerative/neurodevelopmental disorders, but the molecular bases of this clinical heterogeneity are unknown. We characterised five key mutants covering...
7.
Sadjadi R, Picher-Martel V, Morrow J, Thedens D, DiCamillo P, McCray B, et al.
Neurology
. 2024 Aug;
103(5):e209763.
PMID: 39133880
Background And Objectives: Charcot-Marie-Tooth disease type 4J (CMT4J) is caused by autosomal recessive variants in the () gene. Recent preclinical work has demonstrated the feasibility of adeno-associated virus serotype 9-FIG4...
8.
Bertino F, Mukherjee D, Bonora M, Bagowski C, Nardelli J, Metani L, et al.
Cell Rep Med
. 2024 Jul;
5(7):101647.
PMID: 39019006
Congenital hydrocephalus (CH), occurring in approximately 1/1,000 live births, represents an important clinical challenge due to the limited knowledge of underlying molecular mechanisms. The discovery of novel CH genes is...
9.
Kosmanopoulos G, Donohue J, Hoke M, Thomas S, Peyton M, Vo L, et al.
Brain
. 2024 Jun;
148(1):238-251.
PMID: 38917025
Dominant missense mutations of the calcium-permeable cation channel TRPV4 cause Charcot-Marie-Tooth disease (CMT) type 2C and two forms of distal spinal muscular atrophy. These conditions are collectively referred to as...
10.
Bertini A, Gentile L, Cavallaro T, Tozza S, Saveri P, Russo M, et al.
J Neurol Neurosurg Psychiatry
. 2024 Jun;
96(1):47-53.
PMID: 38839277
Background: We aimed to investigate the clinical features of a large cohort of patients with myelin protein zero ()-related neuropathy, focusing on the five main mutation clusters across Italy. Methods:...