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Michelangelo Mancuso

Explore the profile of Michelangelo Mancuso including associated specialties, affiliations and a list of published articles. Areas
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Articles 220
Citations 7756
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Recent Articles
1.
Marchet S, Catania A, Ardissone A, Montano V, Einvag K, Iermito M, et al.
Clin Ther . 2025 Mar; PMID: 40087083
Purpose: The 6 months pilot, single arm, phase I/II, open-label clinical trial PHEMI investigated the safety and efficacy of daily administration of phenylbutyrate in reducing lactic acidosis by at least...
2.
Ivaniuk A, Anselm I, Bowen A, Cohen B, Eminoglu F, Estrella J, et al.
Neurology . 2025 Jan; 104(4):e209779. PMID: 39883904
Background And Objectives: Mitochondrial disorders are multiorgan disorders resulting in significant morbidity and mortality. We aimed to characterize death-associated factors in an international cohort of deceased individuals with mitochondrial disorders....
3.
Jang D, Federico A, Savelieff M, Grisold W, Mancuso M, Molnar M, et al.
J Neurol Sci . 2025 Jan; 470:123395. PMID: 39855013
Objective: Rare neurologic diseases (RNDs) are difficult to diagnose and treat due to their low prevalence and complex nature. This survey evaluated awareness and current care status of RNDs among...
4.
Meli A, Montano V, Palermo G, Fogli A, Rocchi A, Gerfo A, et al.
J Neurol . 2025 Jan; 272(2):111. PMID: 39812846
Objective: This study aims to evaluate our experience in the diagnosis of hereditary ataxias (HAs), to analyze data from a real-world scenario. Study Design: This is a retrospective, cross-sectional, descriptive...
5.
Orsucci D, Caldarazzo Ienco E, Lopriore P, Mancuso M
Exp Neurol . 2024 Nov; 384:115073. PMID: 39603485
Primary mitochondrial disorders (PMDs) are an extraordinarily complex group of rare disorders caused by impairment of the mitochondrial electron transport chain, or respiratory chain. Studying genotype-phenotype relationships in PMDs is...
6.
Torri F, Mancuso M, Siciliano G, Ricci G
Int J Mol Sci . 2024 Jul; 25(13). PMID: 39000416
5q-Spinal muscular atrophy (5q-SMA) is one of the most common neuromuscular diseases due to homozygous mutations in the gene. This leads to a loss of function of the gene, which...
7.
Lopriore P, Palermo G, Meli A, Bellini G, Benevento E, Montano V, et al.
Mov Disord Clin Pract . 2024 Jun; 11(8):948-965. PMID: 38943319
Background: Primary mitochondrial diseases (PMDs) are the most common inborn errors of energy metabolism, with a combined prevalence of 1 in 4300. They can result from mutations in either nuclear...
8.
Torri F, Vadi G, Meli A, Loprieno S, Schirinzi E, Lopriore P, et al.
Neurol Sci . 2024 Jun; 45(10):4657-4668. PMID: 38856822
Rare neurological diseases as a whole share peculiar features as motor and/or cognitive impairment, an elevated disability burden, a frequently chronic course and, in present times, scarcity of therapeutic options....
9.
Cancelloni V, Buratti M, Tsivgoulis G, Furie K, Tadi P, Caso V, et al.
Neurol Sci . 2024 May; 45(10):4895-4902. PMID: 38775860
Background: Intravenous thrombolysis (IVT) and/or endovascular therapy (EVT) are currently considered best practices in acute stroke patients. Data regarding the efficacy and safety of reperfusion therapies in patients with atrial...
10.
Ken-Dror G, Martinelli I, Grandone E, Hiltunen S, Lindgren E, Margaglione M, et al.
Neurology . 2024 May; 102(11):e209445. PMID: 38759137
Background And Objectives: Gene-gene interactions likely contribute to the etiology of multifactorial diseases such as cerebral venous thrombosis (CVT) and could be one of the main sources of known missing...