Stefano Tozza
Overview
Explore the profile of Stefano Tozza including associated specialties, affiliations and a list of published articles.
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72
Citations
590
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Recent Articles
1.
Cassano E, Iodice R, Di Sarno I, Bencivenga R, Manganelli F, Tozza S
Neurol Sci
. 2025 Mar;
PMID: 40053180
Background And Aim: Anti-myelin-associated glycoprotein (anti-MAG) neuropathy is typically a chronic, progressive, predominantly sensory distal and demyelinating neuropathy, with ataxia and postural tremor METHODS AND RESULTS: Herein we describe an...
2.
Patisiran in ATTRv amyloidosis with polyneuropathy: "PatisiranItaly" multicenter observational study
Di Stefano V, Guaraldi P, Romano A, Antonini G, Barilaro A, Briani C, et al.
J Neurol
. 2025 Feb;
272(3):209.
PMID: 39954098
Background: Hereditary amyloid transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is a rare, inherited, multisystemic, progressive adult-onset disease, affecting sensorimotor nerves, and various organs. It is caused by mutations in the TTR...
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.
Canciello G, Tozza S, Todde G, Nolano M, Borrelli F, Palumbo G, et al.
Orphanet J Rare Dis
. 2024 Dec;
19(1):458.
PMID: 39639351
Background: Hereditary transthyretin (ATTRv) amyloidosis is rare, autosomal dominant disease with a fatal outcome if left untreated. Early stages detection is crucial for intervention. We aimed identifying early indexes of...
6.
Geroldi A, La Barbera A, Mammi A, Origone P, Gaudio A, Ponti C, et al.
J Peripher Nerv Syst
. 2024 Sep;
29(4):472-486.
PMID: 39251209
Background And Aims: Since 2016, biallelic mutations in the membrane metalloendopeptidase (MME) gene have been associated with late-onset recessive CMT2 (CMT2T). More recently, heterozygous mutations have also been identified in...
7.
Di Sarno I, Tozza S, Santorelli F, Cassano E, Natale G, Dubbioso R, et al.
Neurol Sci
. 2024 Sep;
45(12):5933-5937.
PMID: 39223423
Background And Aims: Charcot-Marie-Tooth (CMT) is a heterogeneous group of genetic neuropathies and is typically characterized by distal muscle weakness, sensory loss, pes cavus and areflexia. Herein we describe a...
8.
Gentile L, Mazzeo A, Briani C, Casagrande S, De Luca M, Fabrizi G, et al.
Neurol Sci
. 2024 Aug;
46(1):519-520.
PMID: 39090357
No abstract available.
9.
Noioso C, Bevilacqua L, Acerra G, Valle P, Serio M, Pecoraro A, et al.
Neurol Sci
. 2024 Jul;
45(12):5657-5669.
PMID: 38987510
Introduction: Since the initial identification of Miller Fisher syndrome (MFS) and Bickerstaff brainstem encephalitis (BBE),significant milestones have been achieved in understanding these diseases.Discoveries of common serum antibodies (IgG anti-GQ1b), antecedent...
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:...