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A. Petrucci · SciRah

Researcher profile · Semantic Scholar

A. Petrucci

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A. Petrucci — researcher profile on SciRah

h-index: 25
Works: 84
Citations: 1,903

Most-cited papers

Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial.
S. Romano, Giulia Coarelli, C. Marcotulli, L. Leonardi +12 more
2015Lancet Neurology183 citations
Semantic Scholar
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis
S. Bandres-Ciga, A. Noyce, G. Hemani, A. Nicolas +156 more
2019Annals of Neurology140 citations Open access
Semantic Scholar
Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes
D. Cazzato, M. Castori, R. Lombardi, F. Caravello +6 more
2016Neurology110 citations Open access
Semantic Scholar
Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling.
E. Gregianin, G. Pallafacchina, S. Zanin, V. Crippa +15 more
2016Human Molecular Genetics97 citations Open access
Semantic Scholar
Disease awareness in myotonic dystrophy type 1: an observational cross-sectional study
S. Baldanzi, F. Bevilacqua, R. Lorio, L. Volpi +8 more
2016Orphanet Journal of Rare Diseases86 citations Open access
Semantic Scholar
MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients
C. Fiorillo, G. Astrea, Marco Savarese, D. Cassandrini +34 more
2015Orphanet Journal of Rare Diseases86 citations Open access
Semantic Scholar
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study
Angelica D’Amore, A. Tessa, C. Casali, M. Dotti +49 more
2018Frontiers in Neurology84 citations Open access
Semantic Scholar
Amyotrophic Lateral Sclerosis and Oxidative Stress: A Double-Blind Therapeutic Trial After Curcumin Supplementation.
L. Chico, E. C. Ienco, C. Bisordi, Annalisa LoGerfo +4 more
2018CNS and Neurological Disorders - Drug Targets80 citations
Semantic Scholar
Abnormal functional brain connectivity and personality traits in myotonic dystrophy type 1.
L. Serra, G. Silvestri, A. Petrucci, B. Basile +11 more
2014JAMA Neurology71 citations Open access
Semantic Scholar
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis
Janel O. Johnson, Ruth Chia, Danny E. Miller, Rachel Li +286 more
2021JAMA Neurology70 citations Open access
Semantic Scholar
A longitudinal study defined circulating microRNAs as reliable biomarkers for disease prognosis and progression in ALS human patients
G. Dobrowolny, J. Martone, E. Lepore, Irene Casola +11 more
2021Cell Death Discovery61 citations Open access
Semantic Scholar
“I Know that You Know that I Know”: Neural Substrates Associated with Social Cognition Deficits in DM1 Patients
L. Serra, M. Cercignani, M. Bruschini, L. Cipolotti +11 more
2016PLoS ONE56 citations Open access
Semantic Scholar
TBK1 is associated with ALS and ALS-FTD in Sardinian patients
G. Borghero, M. Pugliatti, F. Marrosu, M. Marrosu +101 more
2016Neurobiology of Aging54 citations Open access
Semantic Scholar
An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy
N. Vanacore, Emanuele Rastelli, G. Antonini, M. L. Bianchi +14 more
2016Neuroepidemiology48 citations
Semantic Scholar
Muscle involvement in myasthenia gravis: Expanding the clinical spectrum of myasthenia-myositis association from a large cohort of patients.
M. Garibaldi, L. Fionda, F. Vanoli, L. Leonardi +14 more
2020Autoimmunity Reviews41 citations
Semantic Scholar
Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study.
Salvatore Rossi, G. Della Marca, M. Ricci, Alessia Perna +16 more
2019Journal of Neurological Sciences41 citations Open access
Semantic Scholar
Sleep disorders in myotonic dystrophy type 2: a controlled polysomnographic study and self‐reported questionnaires
A. Romigi, M. Albanese, F. Placidi, F. Izzi +8 more
2014European Journal of Neurology39 citations
Semantic Scholar
Creatine Kinase and Progression Rate in Amyotrophic Lateral Sclerosis
M. Ceccanti, V. Pozzilli, C. Cambieri, L. Libonati +11 more
2020Cells38 citations Open access
Semantic Scholar
How genetics affects the brain to produce higher-level dysfunctions in myotonic dystrophy type 1.
L. Serra, A. Petrucci, B. Spanó, M. Torso +9 more
2015Functional Neurology36 citations Open access
Semantic Scholar
Brain Connectomics' Modification to Clarify Motor and Nonmotor Features of Myotonic Dystrophy Type 1
L. Serra, Matteo Mancini, G. Silvestri, A. Petrucci +9 more
2016Journal of Neural Transplantation and Plasticity35 citations Open access
Semantic Scholar
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase
E. Mauri, Elena Abati, O. Musumeci, C. Rodolico +71 more
2020Acta myologica32 citations
Semantic Scholar
Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors.
M. L. Bianchi, E. Leoncini, M. Masciullo, A. Modoni +11 more
2016Journal of Neurology32 citations Open access
Semantic Scholar
NGS in Hereditary Ataxia: When Rare Becomes Frequent
D. Galatolo, Giovanna De Michele, G. Silvestri, V. Leuzzi +32 more
2021International Journal of Molecular Sciences30 citations Open access
Semantic Scholar
Abnormal Cortical Thickness Is Associated With Deficits in Social Cognition in Patients With Myotonic Dystrophy Type 1
L. Serra, G. Bianchi, M. Bruschini, G. Giulietti +8 more
2020Frontiers in Neurology27 citations Open access
Semantic Scholar
High Prevalence and Gender-Related Differences of Gastrointestinal Manifestations in a Cohort of DM1 Patients: A Perspective, Cross-Sectional Study
Alessia Perna, D. Maccora, Salvatore Rossi, T. Nicoletti +8 more
2020Frontiers in Neurology26 citations Open access
Semantic Scholar
Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials
M. Garibaldi, T. Nicoletti, E. Bucci, L. Fionda +18 more
2021European Journal of Neurology24 citations Open access
Semantic Scholar
Immune checkpoint inhibitors (ICIs)-related ocular myositis.
M. Garibaldi, F. Calabrò, Gioia Merlonghi, S. Pugliese +4 more
2019Neuromuscular Disorders24 citations
Semantic Scholar
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort
S. Satolli, Salvatore Rossi, E. Vegezzi, D. Pellerin +43 more
2024Journal of Neurology23 citations
Semantic Scholar
Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis.
E. Campione, A. Botta, Monia Di Prete, Emanuele Rastelli +8 more
2017Neuromuscular Disorders21 citations
Semantic Scholar
Electrophysiological abnormalities in iatrogenic botulism: Two case reports and review of the literature.
L. Leonardi, S. Haggiag, A. Petrucci, L. Lispi
2019Journal of clinical neuroscience19 citations
Semantic Scholar
Novel TNNT1 mutation and mild nemaline myopathy phenotype in an Italian patient.
A. Petrucci, G. Primiano, M. Savarese, C. Sancricca +2 more
2021Neuromuscular Disorders15 citations
Semantic Scholar
ATTRv in Lazio-Italy: A High-Prevalence Region in a Non-Endemic Country
M. Luigetti, V. Guglielmino, G. Antonini, C. Casali +15 more
2021Genes15 citations Open access
Semantic Scholar
Lesion distribution and substrate of white matter damage in myotonic dystrophy type 1: Comparison with multiple sclerosis
Sara Leddy, L. Serra, D. Esposito, Camilla Vizzotto +7 more
2021NeuroImage: Clinical14 citations Open access
Semantic Scholar
Retrospective observational study on the use of acetyl-l-carnitine in ALS
Serena Sassi, E. Bianchi, L. Diamanti, D. Tornabene +30 more
2023Journal of Neurology13 citations Open access
Semantic Scholar
Ventral tegmental area dysfunction affects decision-making in patients with myotonic dystrophy type-1.
L. Serra, Marta Scocchia, G. Meola, M. D'Amelio +9 more
2020Cortex; a journal devoted to the study of the nervous system and behavior11 citations Open access
Semantic Scholar
Longitudinal neurophysiological assessment of intramuscular type-A botulin toxin in healthy humans
Ludovico Lispi, L. Leonardi, A. Petrucci
2018Neurological Sciences11 citations
Semantic Scholar
Neuromuscular transmission abnormalities in myotonic dystrophy type 1: A neurophysiological study.
F. Bombelli, L. Lispi, Sandro Costanzi Porrini, M. Giacanelli +3 more
2016Clinical neurology and neurosurgery (Dutch-Flemish ed. Print)10 citations
Semantic Scholar
Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients
C. Strafella, Domenica Megalizzi, Giulia Trastulli, Emma Proietti Piorgo +47 more
2024Clinical Epigenetics9 citations Open access
Semantic Scholar
Heteronymous H reflex in temporal muscle as sign of hyperexcitability in ALS patients.
L. Libonati, T. Barone, M. Ceccanti, C. Cambieri +5 more
2019Clinical Neurophysiology9 citations Open access
Semantic Scholar
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4
Salvatore Rossi, A. Rubegni, V. Riso, Melissa Barghigiani +45 more
2022Neurology: Genetics8 citations Open access
Semantic Scholar
The Compound Muscle Action Potential as Neurophysiological Marker for Amyotrophic Lateral Sclerosis.
V. Frasca, M. Ceccanti, Maurizio Inghilleri, E. Onesti +4 more
20167 citations
Semantic Scholar
Lambert–Eaton myasthenic syndrome associated to Merkel cell carcinoma: report of a case
F. Bombelli, L. Lispi, F. Calabrò, F. Corsi +1 more
2015Neurological Sciences7 citations
Semantic Scholar
Describing phenotypes in FSHD: an update of the comprehensive clinical evaluation form
Giulia Ricci, F. Torri, Lucia Ruggiero, L. Vercelli +56 more
2025Neurological Sciences6 citations Open access
Semantic Scholar
A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles
A. Botta, V. V. Visconti, L. Fontana, P. Bisceglia +11 more
2021Frontiers in Genetics6 citations Open access
Semantic Scholar
Validation of the DYALS (dysphagia in amyotrophic lateral sclerosis) questionnaire for the evaluation of dysphagia in ALS patients
L. Diamanti, P. Borrelli, R. Dubbioso, M. Capasso +36 more
2021Neurological Sciences6 citations Open access
Semantic Scholar
Prevalence of amyotrophic lateral sclerosis in Latium region, Italy
M. Puopolo, I. Bacigalupo, P. Piscopo, E. Lacorte +6 more
2021Brain and Behavior5 citations Open access
Semantic Scholar
ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities.
M. Giacanelli, A. Petrucci, L. Lispi, R. Luna +3 more
2017Journal of Neurological Sciences5 citations
Semantic Scholar
Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features – a case report
G. Astrea, A. Petrucci, D. Cassandrini, M. Savarese +7 more
2016BMC Medical Genetics5 citations Open access
Semantic Scholar
Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillar and Distal Myopathies
S. Bortolani, Marco Savarese, G. Vattemi, S. Bonanno +45 more
2024Neurology4 citations
Semantic Scholar
NEFL-Related Charcot-Marie Tooth Disease due to P440L Mutation in Two Italian Families: Expanding the Phenotype and Defining Modulating Factors
A. Petrucci, L. Lispi, M. Garibaldi, E. Frezza +3 more
2023European Neurology4 citations
Semantic Scholar

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R. Massa×11
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G. Antonini×9
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M. Garibaldi×9
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M. Giacanelli×8

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Alessia Perna×7

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Alessia Perna — researcher profile on SciRah

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M. Ceccanti — researcher profile on SciRah