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D. Pareyson · SciRah

Researcher profile · Semantic Scholar

D. Pareyson

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D. Pareyson — researcher profile on SciRah

h-index: 60
Works: 364
Citations: 12K

Most-cited papers

BIALLELIC MUTATIONS IN SORD CAUSE A COMMON AND POTENTIALLY TREATABLE HEREDITARY NEUROPATHY WITH IMPLICATIONS FOR DIABETES
A. Cortese, Yi Zhu, A. Rebelo, S. Negri +91 more
2020Nature Genetics149 citations Open access
Semantic Scholar
Hereditary transthyretin amyloidosis overview
F. Manganelli, G. Fabrizi, M. Luigetti, P. Mandich +2 more
2020Neurological Sciences106 citations Open access
Semantic Scholar
ATTRv amyloidosis Italian Registry: clinical and epidemiological data
M. Russo, L. Obici, I. Bartolomei, F. Cappelli +34 more
2020Amyloid: Journal of Protein Folding Disorders79 citations Open access
Semantic Scholar
Prevalence and orthopedic management of foot and ankle deformities in Charcot–Marie–Tooth disease
M. Laurá, Dishan B. Singh, G. Ramdharry, J. Morrow +18 more
2017Muscle and Nerve75 citations Open access
Semantic Scholar
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis
N. Dominik, S. Magri, R. Curro', Elena Abati +114 more
2023Brain : a journal of neurology69 citations Open access
Semantic Scholar
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study
M. Pipis, S. Feely, J. Polke, M. Skorupinska +56 more
2020Brain : a journal of neurology69 citations Open access
Semantic Scholar
Peripheral neuropathy in complex inherited diseases: an approach to diagnosis
A. Rossor, A. Carr, H. Devine, H. Chandrashekar +5 more
2017Journal of Neurology Neurosurgery & Psychiatry69 citations Open access
Semantic Scholar
Different nerve ultrasound patterns in charcot‐marie‐tooth types and hereditary neuropathy with liability to pressure palsies
L. Padua, D. Coraci, M. Lucchetta, I. Paolasso +9 more
2018Muscle and Nerve53 citations
Semantic Scholar
Challenges in Treating Charcot-Marie-Tooth Disease and Related Neuropathies: Current Management and Future Perspectives
C. Pisciotta, P. Saveri, D. Pareyson
2021Brain Science47 citations Open access
Semantic Scholar
Hereditary neuropathy with liability to pressure palsies
S. Attarian, F. Fatehi, Y. Rajabally, D. Pareyson
2019Journal of Neurology47 citations
Semantic Scholar
A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores.
V. Fridman, Stefan H. Sillau, G. Acsadi, C. Bacon +33 more
2020Neurology46 citations Open access
Semantic Scholar
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy
L. Caporali, S. Magri, A. Legati, V. Del Dotto +27 more
2020Annals of Neurology46 citations Open access
Semantic Scholar
Expanding the spectrum of genes responsible for hereditary motor neuropathies
S. Previtali, Edward H Zhao, D. Lazarević, G. Pipitone +27 more
2019Journal of Neurology Neurosurgery & Psychiatry46 citations Open access
Semantic Scholar
Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus
M. Grandis, L. Obici, M. Luigetti, C. Briani +20 more
2020Orphanet Journal of Rare Diseases45 citations Open access
Semantic Scholar
The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage
A. Ambrosini, D. Calabrese, F. Avato, Felice Catania +6 more
2018Orphanet Journal of Rare Diseases44 citations Open access
Semantic Scholar
hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers
M. Luigetti, Marina Romozzi, G. Bisogni, D. Cardellini +17 more
2020Brain Science43 citations Open access
Semantic Scholar
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1)
Francis B Panosyan, M. Laurá, A. Rossor, C. Pisciotta +12 more
2017Neurology42 citations Open access
Semantic Scholar
Variation in SIPA1L2 Is Correlated with Phenotype Modification in Charcot– Marie– Tooth Disease Type 1A
F. Tao, G. Beecham, A. Rebelo, John Svaren +25 more
2019Annals of Neurology37 citations Open access
Semantic Scholar
Dysregulation of Muscle-Specific MicroRNAs as Common Pathogenic Feature Associated with Muscle Atrophy in ALS, SMA and SBMA: Evidence from Animal Models and Human Patients
C. Malacarne, M. Galbiati, E. Giagnorio, P. Cavalcante +20 more
2021International Journal of Molecular Sciences35 citations Open access
Semantic Scholar
A multicentre retrospective study of Charcot-Marie-Tooth disease type 4B (CMT4B) due to mutations in Myotubularin-related proteins (MTMRs)
D. Pareyson, T. Stojkovic, M. Reilly, S. Léonard-Louis +38 more
2019Annals of Neurology34 citations Open access
Semantic Scholar
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants
C. Record, M. Skorupinska, M. Laurá, A. Rossor +69 more
2023Brain : a journal of neurology31 citations Open access
Semantic Scholar
Treadmill training in patients affected by Charcot–Marie–Tooth neuropathy: results of a multicenter, prospective, randomized, single‐blind, controlled study
L. Mori, A. Signori, V. Prada, D. Pareyson +19 more
2019European Journal of Neurology31 citations Open access
Semantic Scholar
Clinical spectrum and frequency of Charcot–Marie–Tooth disease in Italy: Data from the National CMT Registry
C. Pisciotta, A. Bertini, I. Tramacere, F. Manganelli +29 more
2023European Journal of Neurology30 citations Open access
Semantic Scholar
Gene therapy and other novel treatment approaches for Charcot-Marie-Tooth disease.
C. Pisciotta, D. Pareyson
2023Neuromuscular Disorders30 citations
Semantic Scholar
Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy
Marta Guerrero-Valero, F. Grandi, S. Cipriani, Valeria Alberizzi +12 more
2021Proceedings of the National Academy of Sciences of the United States of America29 citations Open access
Semantic Scholar
Updated review of therapeutic strategies for Charcot-Marie-Tooth disease and related neuropathies
C. Pisciotta, P. Saveri, D. Pareyson
2021Expert Review of Neurotherapeutics29 citations
Semantic Scholar
Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints
M. Reilly, D. Herrmann, D. Pareyson, S. Scherer +4 more
2023Annals of Neurology28 citations Open access
Semantic Scholar
Development and validation of the Charcot-Marie-Tooth Disease Infant Scale
Melissa R. Mandarakas, M. Menezes, K. Rose, R. Shy +20 more
2018Brain : a journal of neurology28 citations Open access
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
Balance Impairment in Pediatric Charcot-Marie-Tooth Disease
T. Estilow, A. Glanzman, J. Burns, A. Harrington +18 more
2019Muscle and Nerve27 citations
Semantic Scholar
Repeatability, consistency, and accuracy of hand‐held dynamometry with and without fixation for measuring ankle plantarflexion strength in healthy adolescents and adults
Phillip R. Davis, M. Mckay, J. N. Baldwin, J. Burns +2 more
2017Muscle and Nerve26 citations
Semantic Scholar
221st ENMC International Workshop:: Foot Surgery in Charcot-Marie-Tooth disease. 10-12 June 2016, Naarden, The Netherlands.
M. Reilly, D. Pareyson, J. Burns, M. Laurá +19 more
2017Neuromuscular Disorders25 citations Open access
Semantic Scholar
Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS
Kayla M. D. Cornett, M. Menezes, P. Bray, R. Shy +14 more
2020Annals of Clinical and Translational Neurology24 citations Open access
Semantic Scholar
Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation
P. Saveri, M. De Luca, Veronica Nisi, C. Pisciotta +14 more
2020Cells22 citations Open access
Semantic Scholar
Outcome measures in the clinical evaluation of ambulatory Charcot-Marie-Tooth 1A subjects.
L. Mori, V. Prada, A. Signori, D. Pareyson +7 more
2019European Journal of Physical and Rehabilitation Medicine22 citations
Semantic Scholar
Neuropathy due to bi-allelic SH3TC2 variants: Genotype-phenotype correlation and natural history.
T. Rehbein, Tong-Tong Wu, Simona Treidler, D. Pareyson +12 more
2023Brain : a journal of neurology20 citations
Semantic Scholar
Hypomyelinating leukodystrophies in adults: Clinical and genetic features
D. Di Bella, S. Magri, C. Benzoni, L. Farina +12 more
2020European Journal of Neurology20 citations
Semantic Scholar
MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism
V. Chelban, M. Carecchio, Gillian Rea, A. Bowirrat +22 more
2020Neurology: Genetics20 citations Open access
Semantic Scholar
Impact of Vutrisiran on Quality of Life and Physical Function in Patients with Hereditary Transthyretin-Mediated Amyloidosis with Polyneuropathy
L. Obici, S. Ajroud-Driss, Kon-ping Lin, J. Berk +337 more
2023Neurological Therapeutics19 citations Open access
Semantic Scholar
Disease Progression in CMT related to MPZ Mutations: A Longitudinal Study
V. Fridman, Stefan H. Sillau, Jacob Bockhorst, Kaitlin E. Smith +26 more
2022Annals of Neurology19 citations Open access
Semantic Scholar
Progressive brachial plexus enlargement in hereditary transthyretin amyloidosis
A. Salvalaggio, D. Coraci, L. Obici, M. Cacciavillani +25 more
2021Journal of Neurology19 citations Open access
Semantic Scholar
Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy
L. Magliano, L. Obici, Claudia Sforzini, A. Mazzeo +21 more
2021Orphanet Journal of Rare Diseases19 citations Open access
Semantic Scholar
Adult leukoencephalopathies with prominent infratentorial involvement can be caused by Erdheim–Chester disease
L. Chiapparini, G. Cavalli, T. Langella, A. Venerando +11 more
2018Journal of Neurology19 citations
Semantic Scholar
Autophagy and Lysosomal Functionality in CMT2B Fibroblasts Carrying the RAB7K126R Mutation
R. Romano, Victoria Stefania Del Fiore, P. Saveri, I. Palamà +4 more
2022Cells17 citations Open access
Semantic Scholar
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study
F. Tao, G. Beecham, A. Rebelo, S. Blanton +24 more
2019Journal of Neuromuscular Diseases17 citations Open access
Semantic Scholar
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease
M. Juneja, A. Azmi, J. Baets, A. Roos +14 more
2018Journal of Neurology Neurosurgery & Psychiatry16 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
Frequency, entity and determinants of fatigue in Charcot–Marie–Tooth disease
Marta Bellofatto, A. Bertini, I. Tramacere, F. Manganelli +22 more
2022European Journal of Neurology15 citations Open access
Semantic Scholar
Responsiveness of gait analysis parameters in a cohort of 71 CMT subjects.
T. Lencioni, G. Piscosquito, M. Rabuffetti, G. Bovi +8 more
2017Neuromuscular Disorders15 citations
Semantic Scholar
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience
F. Fortunato, Francesca Bianchi, G. Ricci, F. Torri +47 more
2023Orphanet Journal of Rare Diseases14 citations Open access
Semantic Scholar

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