Massimiliano Filosto

nemo-brescia clinical center for neuromuscular diseases

H指数:52

被引数:1.0万

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Delving into the clinical and genetic spectrum of NLSDM: A case study

深入探讨NLSDM的临床和遗传谱：一个病例研究

Journal of Neuromuscular Diseases

IF3.4

2026-09-210

PRE

Refining Electrophysiological Criteria in CIDP and MMN: Toward a Unified Definition of Motor Conduction Block and Proximal Temporal Dispersion

在慢性炎性脱髓鞘性多发性神经病和运动神经病中优化电生理标准：迈向运动传导阻滞和近端时间离散的统一定义

European Journal of Neurology

IF3.9

2026-09-030

OAAI

Chiara Gallo; Carla Fasano; Angelo Fonseca; Yuri Falzone; Dario Cocito; Fiore Manganelli; Sabrina Matà; Giuseppe Cosentino; Vincenzo Di Stefano; Massimiliano Filosto; Luca Leonardi; Dario Ricciardi; Anna Mazzeo; Luana Benedetti; Marco Luigetti; Paolo Solla; Maurizio Inghilleri; Francesco Habetswallner; Alessandro Barilaro; Fabrizio Canale; Alberto De Lorenzo; Adele Ratti; Emanuele Cassano; Maddalena Spalletti; Elisa Vegezzi; Filippo Brighina; Barbara Risi; Francesca Forcina; Alessandra Fasolino; Luca Gentile; Giacomo Iabichella; Alessandro Beronio; Francesca Vitali; Federica Moret; Stefano Gazzina; Corrado Cabona; Vincenzo Todisco; Eduardo Nobile-Orazio; Pietro Emiliano Doneddu; the Italian CIDP and MMN Database Study Groups

Inter-centre heterogeneity, temporal evolution, and factors associated with treatment selection and outcomes in chronic inflammatory demyelinating polyradiculoneuropathy: a multicentre, combined prospective and retrospective observational study

多中心异质性、时间演变及与治疗选择和结局相关的因素在慢性炎症性脱髓鞘多发性神经根神经病中的研究：一项多中心、前瞻性与回顾性相结合的观察性研究

EClinicalMedicine

IF10

2026-06-230

Deep Phenotyping of F64L Mutation in a Multicentric Cohort of Patisiran-Treated Hereditary Transthyretin Amyloidosis Patients (Patisiranitaly)

对Patisiranitaly研究中Patisiran治疗的家族性转甲状腺素蛋白淀粉样变性患者多中心队列中F64L突变的深度表型分析

European Journal of Neurology

IF3.9

2026-06-010

Marco Ceccanti; Pietro Guaraldi; Angela Romano; Giovanni Antonini; Alessandro Barilaro; Chiara Briani; Marco Burattini; Micol Gianoli; Giulia Carlini; Vittoria Cianci; Marco Currò Dossi; Daniela Di Lisi; Antonio Di Muzio; Adele Ratti; Massimiliano Filosto; Sabrina Gasverde; Chiara Gemelli; Luca Gentile; Mariangela Goglia; Luca Leonardi; Simone Longhi; Antonio Lotti; Fiore Manganelli; Anna Mazzeo; Sofia Maria Augello; Giammarco Milella; Giuseppina Novo; Davide Pareyson; Silvia Fenu; Giovanni Palumbo; Cristina Petrelli; Loris Poli; Luca Guglielmo Pradotto; Massimo Russo; Alessandro Salvalaggio; Maria Ausilia Sciarrone; Luigi Sellitti; Matteo Tagliapietra; Stefano Tozza; Mariagiovanna Castiglia; Mara Turri; Lorenzo Verriello; Cristina Chimenti; Francesca Vitali; Filippo Brighina; Nicasio Rini; Maurizio Inghilleri; Roberto D'Angelo; Domenico Abelardo; Chiara Cambieri; Laura Libonati; Federica Moret; Marco Luigetti; Vincenzo Di Stefano

Diet and nutrition in patients with neuromuscular disorders; as lifestyle factors affecting clinical parameters and quality of life: a narrative systematic review

神经肌肉疾病患者的饮食与营养；作为影响临床参数和生活质量的生活方式因素：一篇叙述性系统综述

Nutrition Research Reviews

IF4.5

2026-05-220

OAAI

Bridging Past and Future: The Evolution of Genetic Diagnosis in FSHD and the Role of Emerging Technologies in a Globalized Framework

连接过去与未来：FSHD中遗传诊断的演变及新兴技术在全球化框架中的作用

Neuromuscular Disorders

IF2.8

2026-04-150

PRE

EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemia

Kyriakides, T.; Aleksovska, K.; Angelini, C.; Argov, Z.; Claeys, K.G.; de Visser, M.; FIlosto, M.; Jovanovic, I.; Kostera-Pruszczyk, A.; Molnar, M.J.; et al. EAN 2024关于寡/无症状高肌酸激酶血症诊断方法的指南。Eur. J. Neurol. 2026, 33, e70493. [Google Scholar] [CrossRef] [PubMed]

European Journal of Neurology

IF3.9

2026-01-310

OAAI

Quantitative MRI Biomarkers for Early Muscle Involvement in Late Onset Pompe Disease

Journal of Inherited Metabolic Disease

IF3.8

2026-01-190

PRE

Late-onset Pompe’s disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm

儿科迟发性庞贝病：来自一项意大利全国性调查的38例患者的结果及针对性诊断算法的提出

Orphanet Journal of Rare Diseases

IF3.5

2025-11-280

OAAI

Marco Spada; Serena Gasperini; Massimiliano Filosto; Guja Astrea; Beatrice Bracci; Claudio Bruno; Alberto Burlina; Anna Cavallini; Daniela Concolino; Viola Crescitelli; Adele D’Amico; Federica Deodato; Carlo Dionisi-Vici; Maria Alice Donati; Simona Fecarotta; Rita Fischetto; Agata Fiumara; Francesca Furlan; Vincenza Gragnaniello; Damiano Mala; Monica Marica; Francesca Menni; Veronica Pagliardini; Claudia Panicucci; Giancarlo Parenti; Andrea Pession; Federica Ricci; Valentina Rovelli; Michele Sacchini; Filippo Maria Santorelli; Lucia Santoro; Maurizio Scarpa; Roberta Taurisano; Albina Tummolo; Francesco Porta

Assessment of IBM-FRS total score and specific functional domains in a large cohort of inclusion body myositis patients

评估IBM-FRS总分及特定功能领域在一大样本包涵体肌炎患者中的表现

Journal of Neurology

IF4.6

2025-11-190

PRE

Alex Vicino; Antonio Lauletta; Silvia Bonanno; Adele Barbaccia; Maria Lucia Valentino; Barbara Risi; Eleonora Torchia; Marta Cheli; Paola Tonin; Guido Urbano; Elena Saccani; Elena Faedo; Alessandra Ruggieri; Eliana Iannibelli; Michele Giovanni Croce; Dario Zoppi; Emanuele Maria Costantini; Andrea Rigamonti; Giovanni Colacicco; Marina Grandis; Michela Coccia; Andrea Barp; Aurélie Marroun Stephan; Stefano Carda; Marie Théaudin; Sabrina Ravaglia; Lucia Ruggiero; Tiziana Mongini; Lorenzo Verriello; Gaetano Vattemi; Sara Bortolani; Valeria Ada Sansone; Massimiliano Filosto; Stefano Carlo Previtali; Rocco Liguori; Carmelo Rodolico; Matteo Garibaldi; Lorenzo Maggi

Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review

揭示MYH2相关肌病：来自病例系列和系统综述的组织学-遗传学见解

Journal of Neuromuscular Diseases

IF3.4

2025-11-180

Beatrice Labella; Guy Brochier; Maud Beuvin; Emmanuelle Lacene; Anais Chanut; Angeline Madelaine; Clemence Labasse; Aurelie Méneret; Andreas Roos; Heike Kölbel; Adrian Levine; Grace Yoon; Juliette Svahn; Francoise Bouhour; Natalie Streichenberger; Aleksandra Nadaj-Pakleza; Edoardo Malfatti; Guillaume Bassez; Anthony Behin; Pascal Laforet; Rocio Nur Villar-Quiles; Sarah Leonard-Louis; Thierry Maisonobe; Tanya Stojkovic; Bruno Eymard; Norma Beatriz Romero; Alessandro Padovani; Massimiliano Filosto; Denise Cassandrini; Valerie Biancalana; John Rendu; Kiran Polavarapu; Corinne Métay; Teresinha Evangelista

Understanding Long-Term Survival in ALS: A Cohort Study on Subject Characteristics and Prognostic Factors

理解ALS的长期生存：一项关于受试者特征和预后因素的研究队列

Journal of Clinical Medicine 2025, Vol. 14, Page 7351

IF0

2025-10-170

OAAI

Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report

COL6A1、COL6A2和COL6A3致病性变异在呈现VI型胶原蛋白相关肌病的大型意大利队列中的景观分析：一项全国性报告

Biomolecules 2025, Vol. 15, Page 1426

IF4.8

2025-10-080

OAAI

Fernanda Fortunato; Laura Fiocco; Alice Margutti; Marcella Neri; Adele D’Amico; Enrico Bertini; Enzo Ricci; Eugenio Maria Mercuri; Marika Pane; Roberto Massa; Giulia Greco; Angela Lucia Berardinelli; Cristina Cereda; Antonella Pini; Luciano Merlini; Carlo Fusco; Carmelo Rodolico; Sonia Messina; Chiara Fiorillo; Claudio Bruno; Marina Pedemonte; Monica Traverso; Isabella Moroni; Lorenzo Maggi; Sara Gibertini; Elena Pegoraro; Esther Picillo; Luisa Politano; Marianna Scutifero; Fabiana Vercellino; Francesca Massaro; Massimiliano Filosto; Paolo Gasparini; Federica Ricci; Tiziana Enrica Mongini; Rita Selvatici; Alessandra Ferlini; Francesca Gualandi

Nerve Conduction Abnormalities Beyond Conduction Block in Multifocal Motor Neuropathy. Impact on Diagnostic Criteria Accuracy

多灶性运动神经病中传导阻滞以外的神经传导异常。对诊断标准准确性的影响

European Journal of Neurology

IF3.9

2025-09-230

OAAI

Pietro Emiliano Doneddu; Chiara Gallo; Yuri Falzone; Sabrina Matà; Giuseppe Cosentino; Vincenzo Di Stefano; Massimiliano Filosto; Luca Leonardi; Dario Ricciardi; Anna Mazzeo; Luana Benedetti; Marco Luigetti; Paolo Solla; Maurizio Inghilleri; Dario Cocito; Francesco Habetswallner; Alberto De Lorenzo; Benedetta Sorrenti; Maddalena Spalletti; Elisa Vegezzi; Christian Messina; Barbara Risi; Francesca Forcina; Alessandra Fasolino; Luca Gentile; Alessandro Beronio; Francesca Vitali; Federica Moret; Giacomo Iabichella; Stefano Gazzina; Corrado Cabona; Claudia Cutellè; Elisa Bianchi; Eduardo Nobile-Orazio; the Italian MMN Database Study Group

Targeted plasma proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders

靶向血浆蛋白质组学揭示了与KIF5A相关的SPG10和ALS谱系障碍相关的蛋白质

Human Genetics and Genomics Advances

IF3.6

2025-08-270

OAAI

The Role of Whole-Exome Sequencing and Methylation Analysis in Untangling Complex Facioscapulo-Humeral Muscular Dystrophy Cases

全外显子组测序和甲基化分析在解开复杂面肩肱型肌营养不良病例中的作用

Clinical Genetics

IF2.3

2025-08-110

PRE

Assessing the Safety and Efficacy of Lamotrigine as Anti-myotonic Agent in Myotonic Dystrophy Type 1 (DM1): A Longitudinal, Open-Label, Pilot Study

评估拉莫三嗪作为抗肌强直剂在1型肌强直性营养不良（DM1）中的安全性与有效性：一项纵向、开放标签、初步研究

Neurology and Therapy

IF4.8

2025-08-020

OAAI

Prevalence of hereditary transthyretin amyloidosis in CIDP patients with red flags: a multicenter genetic screening and misdiagnosis analysis

遗传性甲状腺素运载蛋白淀粉样变性在具有红旗标志的CIDP患者中的患病率：一项多中心遗传筛查和误诊分析

Journal of Neurology

IF4.6

2025-07-160

PRE

Pietro Emiliano Doneddu; Giulia Moretti; Vincenzo Di Stefano; Yuri Falzone; Luca Leonardi; Marco Luigetti; Giorgia Mataluni; Luca Gentile; Marinella Carpo; Alessandro Barilaro; Massimiliano Filosto; Elisa Vegezzi; Maurizio Inghilleri; Fabrizio Canale; Filippo Brighina; Sabrina Matà; Adele Ratti; Francesca Forcina; Giovanni Siconolfi; Claudia Lozi; Anna Mazzeo; Ugo Mollo; Barbara Risi; Giuseppe Cosentino; Federica Moret; Carla Fasano; Vincenzo Todisco; Massimo Russo; Eduardo Nobile–Orazio

Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa

意大利晚发型庞贝病（LOPD）患者接受阿糖苷酶α治疗10年和15年后的队列分析

Journal of Neurology

IF4.6

2025-07-110

PRE

Cortical Excitability as a Prognostic and Phenotypic Stratification Biomarker in Amyotrophic Lateral Sclerosis

皮质兴奋性作为肌萎缩侧索硬化症的预后和表型分层生物标志物

Annals of Neurology

IF7.7

2025-06-250

OAAI

Federico Ranieri; Gianmaria Senerchia; Luigi Bonan; Stefania Casali; Corrado Cabona; Mariagiovanna Cantone; Fabiola De Marchi; Luca Diamanti; Alberto Doretti; Nicola Fini; Massimiliano Filosto; Andrea Fortuna; Aniello Iovino; Valentina Virginia Iuzzolino; Giuseppe Lanza; Christian Lunetta; Luca Maderna; Jessica Mandrioli; Letizia Mazzini; Gabriella Musumeci; Andi Nuredini; Gianni Sorarù; Antonella Toriello; Nicola Ticozzi; Massimiliano Todisco; Veria Vacchiano; Lucia Zinno; Vincenzo Silani; Simone Rossi; Vincenzo Di Lazzaro; Raffaele Dubbioso; the MND Study Group of the Italian Neurological Society (SIN) and the Neurostimulation-Neuromodulation Study Group of the Italian Society of Clinical Neurophysiology (SINC)

Massimiliano Filosto

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