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C. Mariotti · SciRah

Researcher profile · Semantic Scholar

C. Mariotti

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C. Mariotti — researcher profile on SciRah

h-index: 58
Works: 266
Citations: 11K

Most-cited papers

Spinocerebellar ataxia
T. Klockgether, C. Mariotti, H. Paulson
2019Nature Reviews Disease Primers509 citations
Semantic Scholar
Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study)
David A. Lynch, Melanie P. Chin, M. Delatycki, S. Subramony +13 more
2020Annals of Neurology299 citations Open access
Semantic Scholar
Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed‐Start Analysis of the MOXIe Extension
David R. Lynch, Melanie P. Chin, S. Boesch, M. Delatycki +12 more
2022Movement Disorders116 citations Open access
Semantic Scholar
Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study.
K. Reetz, I. Dogan, R. Hilgers, P. Giunti +19 more
2021Lancet Neurology78 citations Open access
Semantic Scholar
Onset features and time to diagnosis in Friedreich’s Ataxia
E. Indelicato, W. Nachbauer, A. Eigentler, Matthias Amprosi +13 more
2020Orphanet Journal of Rare Diseases61 citations Open access
Semantic Scholar
The European Reference Network for Rare Neurological Diseases
C. Reinhard, A. Bachoud-Lévi, T. Bäumer, E. Bertini +25 more
2021Frontiers in Neurology53 citations Open access
Semantic Scholar
Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48.
S. Magri, L. Nanetti, C. Gellera, Elisa Sarto +11 more
2021Genetics in Medicine52 citations Open access
Semantic Scholar
Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data
David R. Lynch, A. Goldsberry, C. Rummey, J. Farmer +13 more
2023Annals of Clinical and Translational Neurology51 citations Open access
Semantic Scholar
Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study.
H. Jacobi, S. T. du Montcel, S. Romanzetti, F. Harmuth +23 more
2020Lancet Neurology46 citations Open access
Semantic Scholar
Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias
H. Jacobi, S. T. du Montcel, P. Bauer, P. Giunti +33 more
2018Journal of Neurology42 citations Open access
Semantic Scholar
Progression of Cerebellar Atrophy in Spinocerebellar Ataxia Type 2 Gene Carriers: A Longitudinal MRI Study in Preclinical and Early Disease Stages
A. Nigri, L. Sarro, A. Mongelli, C. Pinardi +9 more
2020Frontiers in Neurology33 citations Open access
Semantic Scholar
Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms
V. Pensato, S. Magri, Eleonora Dalla Bella, P. Tannorella +8 more
2020Journal of Clinical Medicine33 citations Open access
Semantic Scholar
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Paulina Cunha, Emilien Petit, Marie Coutelier, Giulia Coarelli +68 more
2023American Journal of Human Genetics31 citations Open access
Semantic Scholar
Spinocerebellar Ataxia Type 1: One-Year Longitudinal Study to Identify Clinical and MRI Measures of Disease Progression in Patients and Presymptomatic Carriers
A. Nigri, L. Sarro, A. Mongelli, A. Castaldo +10 more
2021Cerebellum29 citations
Semantic Scholar
Neuro-telehealth for fragile patients in a tertiary referral neurological institute during the COVID-19 pandemic in Milan, Lombardy
D. Pareyson, C. Pantaleoni, R. Eleopra, G. De Filippis +23 more
2021Neurological Sciences27 citations Open access
Semantic Scholar
Deep brain stimulation in Huntington’s disease: a literature review
Roberta Bonomo, A. Elia, G. Bonomo, L. Romito +5 more
2021Neurological Sciences26 citations
Semantic Scholar
ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype
L. Nanetti, Elisa Sarto, A. Castaldo, S. Magri +11 more
2018Journal of Neurology26 citations
Semantic Scholar
Predictors of Survival in Friedreich's Ataxia: A Prospective Cohort Study
E. Indelicato, K. Reetz, Sarah Maier, W. Nachbauer +19 more
2023Movement Disorders25 citations Open access
Semantic Scholar
Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance
Thomas Klockgether, M. Synofzik, Saud Alhusaini, M. Anheim +65 more
2023Cerebellum25 citations Open access
Semantic Scholar
Late-onset Huntington’s disease with 40–42 CAG expansion
E. Capiluppi, L. Romano, P. Rebora, L. Nanetti +5 more
2019Neurological Sciences25 citations Open access
Semantic Scholar
Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA)
K. Reetz, R. Hilgers, S. Isfort, M. Dohmen +18 more
2019Neurological Research and Practice23 citations Open access
Semantic Scholar
Utility of the Parkinson’s disease-Cognitive Rating Scale for the screening of global cognitive status in Huntington’s disease
S. Martínez-Horta, A. Horta-Barba, J. Pèrez-Pèrez, F. Sampedro +24 more
2020Journal of Neurology22 citations
Semantic Scholar
From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations
M. Gatti, S. Magri, L. Nanetti, Elisa Sarto +5 more
2019American Journal of Medical Genetics. Part A21 citations
Semantic Scholar
Cognitive and behavioral associated changes in manifest Huntington disease: A retrospective cross‐sectional study
S. Migliore, Giulia D'Aurizio, S. Maffi, Consuelo Ceccarelli +6 more
2021Brain and Behavior20 citations Open access
Semantic Scholar
Fiberoptic endoscopic evaluation of swallowing in early-to-advanced stage Huntington’s disease
A. Schindler, Nicole Pizzorni, J. Sassone, L. Nanetti +10 more
2020Scientific Reports20 citations Open access
Semantic Scholar
Cortical thickness, stance control, and arithmetic skill: An exploratory study in premanifest Huntington disease.
L. Nanetti, V. Contarino, A. Castaldo, L. Sarro +10 more
2018Parkinsonism & Related Disorders20 citations
Semantic Scholar
Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study
T. J. Rezende, Isaac Adanyaguh, O. Barsottini, Benjamin Bender +29 more
2024Journal of Neurology Neurosurgery & Psychiatry18 citations Open access
Semantic Scholar
Prediction of Survival With Long‐Term Disease Progression in Most Common Spinocerebellar Ataxia
Alhassane Diallo, H. Jacobi, A. Cook, P. Giunti +32 more
2019Movement Disorders18 citations
Semantic Scholar
Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND)
L. Nanetti, Mary Kearney, S. Boesch, Lucie Šťovíčková +48 more
2023Neurological Sciences17 citations Open access
Semantic Scholar
Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients.
R. Brugnoni, L. Maggi, Eleonora Canioni, F. Verde +24 more
2020Neuromuscular Disorders17 citations
Semantic Scholar
Predictors of malnutrition risk in neurodegenerative diseases: The role of swallowing function
Nicole Pizzorni, A. Ciammola, G. Casazza, D. Ginocchio +7 more
2022European Journal of Neurology16 citations Open access
Semantic Scholar
Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders
M. Cozzi, S. Magri, B. Tedesco, Guglielmo Patelli +23 more
2024Cell Death and Disease15 citations Open access
Semantic Scholar
Complex Ataxia‐Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar Ataxia
L. Nanetti, S. Magri, M. Fichera, A. Castaldo +10 more
2023Movement Disorders15 citations Open access
Semantic Scholar
Comorbidities in Friedreich ataxia: incidence and manifestations from early to advanced disease stages
M. Fichera, A. Castaldo, A. Mongelli, Gloria Marchini +3 more
2022Neurological Sciences15 citations
Semantic Scholar
Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature
L. Nanetti, D. Di Bella, S. Magri, M. Fichera +10 more
2022Frontiers in Neurology15 citations Open access
Semantic Scholar
Expanding the Spectrum of AP5Z1‐Related Hereditary Spastic Paraplegia (HSP‐SPG48): A Multicenter Study on a Rare Disease
M. Breza, Jennifer Hirst, V. Chelban, G. Banneau +32 more
2021Movement Disorders14 citations Open access
Semantic Scholar
Accelerometer-based measures in Friedreich ataxia: a longitudinal study on real-life activity
Mario Fichera, L. Nanetti, A. Monelli, A. Castaldo +6 more
2024Frontiers in Pharmacology9 citations Open access
Semantic Scholar
Prediction of the disease course in Friedreich ataxia
C. Hohenfeld, Ulrich Terstiege, I. Dogan, P. Giunti +21 more
2022Scientific Reports9 citations Open access
Semantic Scholar
Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population
A. Mongelli, S. Magri, E. Salvatore, Elena Rizzo +7 more
2020Neurological Sciences9 citations
Semantic Scholar
Huntingtin gene CAG repeat size affects autism risk: Family-based and case-control association study.
I. Piras, Chiara Picinelli, R. Iennaco, Marco Baccarin +13 more
2020American Journal of Medical Genetics Part B: Neuropsychiatric Genetics8 citations Open access
Semantic Scholar
Frataxin deficiency in Friedreich's ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival.
Francesca Tiano, F. Amati, F. Cherubini, Elena Morini +23 more
2020Human Molecular Genetics8 citations Open access
Semantic Scholar
Cortical network dysfunction revealed by magnetoencephalography in carriers of spinocerebellar ataxia 1 or 2 mutation.
E. Visani, C. Mariotti, L. Nanetti, A. Mongelli +7 more
2020Clinical Neurophysiology8 citations
Semantic Scholar
Measuring cognitive impairment and monitoring cognitive decline in Huntington’s disease: a comparison of assessment instruments
A. Horta-Barba, S. Martínez-Horta, J. Pèrez-Pèrez, A. Puig-Davi +24 more
2023Journal of Neurology7 citations Open access
Semantic Scholar
Different patterns of movement-related cortical oscillations in patients with myoclonus and in patients with spinocerebellar ataxia.
E. Visani, C. Mariotti, L. Nanetti, A. Mongelli +4 more
2019Clinical Neurophysiology7 citations
Semantic Scholar
Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset
L. Porcu, M. Fichera, L. Nanetti, E. Rulli +21 more
2023Annals of Clinical and Translational Neurology6 citations Open access
Semantic Scholar
Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy
Q. T. R. Nguyen, J. D. Ortigoza Escobar, J. Burgunder, C. Mariotti +5 more
2022Frontiers in Neurology6 citations Open access
Semantic Scholar
The Pattern and Stages of Atrophy in Spinocerebellar Ataxia Type 2: Volumetrics from ENIGMA‐Ataxia
J. W. Robertson, I. Adanyeguh, B. Bender, S. Boesch +32 more
2025Movement Disorders5 citations Open access
Semantic Scholar
A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies
Daniele Sala, S. Marchet, L. Nanetti, A. Legati +5 more
2024Orphanet Journal of Rare Diseases5 citations Open access
Semantic Scholar
Direct utility of natural history data in analysis of clinical trials: Propensity match-based analysis of Omaveloxolone in Friedreich ataxia using the FA-COMS dataset
D. Lynch, A. Goldsberry, C. Rummey, J. Farmer +12 more
2022medRxiv5 citations Open access
Semantic Scholar
Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype
M. Gatti, S. Magri, D. Di Bella, Elisa Sarto +3 more
2021Neurological Sciences5 citations
Semantic Scholar

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L. Nanetti×23
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L. Nanetti — researcher profile on SciRah
A. Castaldo×16
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A. Castaldo — researcher profile on SciRah
S. Boesch×15
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S. Boesch — researcher profile on SciRah
W. Nachbauer×13
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W. Nachbauer — researcher profile on SciRah

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L. Schöls — researcher profile on SciRah

A. Mongelli×11

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A. Mongelli — researcher profile on SciRah

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F. Taroni — researcher profile on SciRah

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S. Magri — researcher profile on SciRah

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C. Gellera — researcher profile on SciRah

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A. Durr — researcher profile on SciRah

T. Klockgether×8

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T. Klockgether — researcher profile on SciRah

J. B. Schulz×8

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J. B. Schulz — researcher profile on SciRah