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M. Marchi · SciRah

Researcher profile · Semantic Scholar

M. Marchi

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M. Marchi — researcher profile on SciRah

h-index: 16
Works: 39
Citations: 845

Most-cited papers

Diagnostic criteria for small fibre neuropathy in clinical practice and research
G. Devigili, S. Rinaldo, R. Lombardi, D. Cazzato +4 more
2019Brain : a journal of neurology218 citations Open access
Semantic Scholar
Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes
S. Russo, M. Marchi, F. Cogliati, M. T. Bonati +6 more
2009Neurogenetics81 citations
Semantic Scholar
Yield of peripheral sodium channels gene screening in pure small fibre neuropathy
Ivo Eijkenboom, M. Sopacua, J. Hoeijmakers, B. D. de Greef +10 more
2018Journal of Neurology Neurosurgery & Psychiatry63 citations Open access
Semantic Scholar
Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature.
Maria Pintaudi, M. G. Baglietto, R. Gaggero, E. Parodi +4 more
2008Epilepsy & Behavior42 citations
Semantic Scholar
COL6A5 variants in familial neuropathic chronic itch
F. Martinelli-Boneschi, M. Colombi, M. Castori, G. Devigili +25 more
2017Brain : a journal of neurology40 citations Open access
Semantic Scholar
Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes
F. Cogliati, Valentina Giorgini, M. Masciadri, M. T. Bonati +15 more
2019International Journal of Molecular Sciences31 citations Open access
Semantic Scholar
Familial Ohtahara syndrome due to a novel ARX gene mutation
L. Giordano, S. Sartori, S. Russo, P. Accorsi +8 more
2010American Journal of Medical Genetics. Part A31 citations Open access
Semantic Scholar
Network topology of NaV1.7 mutations in sodium channel-related painful disorders
D. Kapetis, J. Sassone, Yang Yang, B. Galbardi +33 more
2017BMC Systems Biology30 citations Open access
Semantic Scholar
Chronic intestinal pseudo‐obstruction in adults: A practical guide to identify patient subgroups that are suitable for more specific treatments
G. Basilisco, M. Marchi, M. Coletta
2023Neurogastroenterology and Motility29 citations Open access
Semantic Scholar
Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: a positive replication for UBE3A.
G. Guffanti, Luisa Strik Lievers, M. T. Bonati, M. Marchi +6 more
2011Psychiatry Research29 citations
Semantic Scholar
Genetic investigations on 8 patients affected by ring 20 chromosome syndrome
D. Giardino, A. Vignoli, L. Ballarati, Maria Paola Recalcati +10 more
2010BMC Medical Genetics28 citations Open access
Semantic Scholar
TRPA1 rare variants in chronic neuropathic and nociplastic pain patients
M. Marchi, E. Salvi, Mirna Andelic, Elkadia Mehmeti +19 more
2023Pain27 citations Open access
Semantic Scholar
A CDKL5 mutated child with precocious puberty
V. Saletti, L. Canafoglia, P. Cambiaso, S. Russo +2 more
2009American Journal of Medical Genetics. Part A27 citations
Semantic Scholar
A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia
M. Marchi, V. Provitera, M. Nolano, M. Romano +6 more
2018Journal of the peripheral nervous system24 citations Open access
Semantic Scholar
Peripheral Ion Channel Genes Screening in Painful Small Fiber Neuropathy
Milena Ślęczkowska, R. Almomani, M. Marchi, E. Salvi +9 more
2022International Journal of Molecular Sciences18 citations Open access
Semantic Scholar
Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing
R. Almomani, M. Marchi, M. Sopacua, P. Lindsey +16 more
2020PLoS ONE18 citations Open access
Semantic Scholar
Peripheral Ion Channel Gene Screening in Painful- and Painless-Diabetic Neuropathy
Milena Ślęczkowska, R. Almomani, M. Marchi, B. D. de Greef +12 more
2022International Journal of Molecular Sciences15 citations Open access
Semantic Scholar
Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies
R. Almomani, M. Sopacua, M. Marchi, Milena Ślęczkowska +19 more
2023International Journal of Molecular Sciences13 citations Open access
Semantic Scholar
Laser capture microdissection for transcriptomic profiles in human skin biopsies
S. Santoro, I. Lopez, R. Lombardi, A. Zauli +11 more
2018BMC Molecular Biology13 citations Open access
Semantic Scholar
High-Resolution Whole-Genome DNA Methylation Revealed Unique Signatures of Painful Diabetic Neuropathy
K. Kwiatkowska, P. Garagnani, Massimiliano Bonafé, M. Bacalini +12 more
2025Diabetes12 citations Open access
Semantic Scholar
Sensory neuron–expressed FGF13 controls nociceptive signaling in diabetic neuropathy models
Aditya K. Singh, M. Bernabucci, Nolan M. Dvorak, Zahra Haghighijoo +46 more
2025Journal of Clinical Investigation11 citations Open access
Semantic Scholar
Painful diabetic neuropathy is associated with accelerated epigenetic aging
K. Kwiatkowska, P. Garagnani, Massimiliano Bonafé, M. Bacalini +10 more
2025GeroScience10 citations Open access
Semantic Scholar
Congenital insensitivity to pain: a novel mutation affecting a U12-type intron causes multiple aberrant splicing of SCN9A
M. Marchi, Ilaria D’Amato, Mirna Andelic, D. Cartelli +4 more
2021Pain10 citations Open access
Semantic Scholar
Small fiber neuropathy: expanding diagnosis with unsettled etiology
G. Devigili, M. Marchi, Giuseppe Lauria
2025Current Opinion in Neurology8 citations Open access
Semantic Scholar
Integrative miRNA–mRNA profiling of human epidermis: unique signature of SCN9A painful neuropathy
Mirna Andelic, E. Salvi, S. Marcuzzo, M. Marchi +13 more
2023Brain : a journal of neurology8 citations Open access
Semantic Scholar
Computational pipeline to probe NaV1.7 gain-of-function variants in neuropathic painful syndromes
Alberto Toffano, Giacomo Chiarot, S. Zamuner, M. Marchi +6 more
2020Scientific Reports7 citations Open access
Semantic Scholar
Broadening the Genetic Spectrum of Painful Small-Fiber Neuropathy through Whole-Exome Study in Early-Onset Cases
K. Misra, Milena Ślęczkowska, S. Santoro, M. Gerrits +10 more
2024International Journal of Molecular Sciences3 citations Open access
Semantic Scholar
Epimutation analysis reveals involvement of SLIT2/ROBO signaling pathway in painful diabetic neuropathy
K. Kwiatkowska, P. Garagnani, Francesca Ferraresi, Massimiliano Bonafé +13 more
2026Human Genomics1 citations Open access
Semantic Scholar
Archival skin biopsy specimens as a tool for miRNA-based diagnosis: Technical and post-analytical considerations
Mirna Andelic, M. Marchi, S. Marcuzzo, R. Lombardi +3 more
2023Molecular Therapy: Methods & Clinical Development1 citations Open access
Semantic Scholar
Different spatial profiles of aberrant N-glycans in pediatric and adult MOGHE brain tissue
Chiara Calabretta, Dalia De Santis, Grace Grimsley, Greta De Cicco +16 more
2026bioRxiv0 citations Open access
Semantic Scholar
KCNK18 c.1107del frameshift in peripheral neuropathy links TRESK dysfunction to neuropathic pain
Clara Rubio, Milena Ślęczkowska, Enric Pisa, A. Barbieri +12 more
2025bioRxiv0 citations
Semantic Scholar
Sample Transfer Arm for Mars Sample Return Mission
Francesco Cavenago, A. Rusconi, G. Sangiovanni, Enrico Cunietti +9 more
2024IAF Space Exploration Symposium0 citations
Semantic Scholar
Authors reply to the letter: Because secondary intestinal pseudo‐obstruction is potentially treatable, its etiology needs to be clarified
G. Basilisco, M. Marchi, M. Coletta
2024Neurogastroenterology and Motility0 citations
Semantic Scholar
Ricolinostat induces microtubule acetylation and neurite regeneration in cellular models of diabetic and chemotheraphy-induced neuropathy
D. Cartelli, S. Mazzetti, R. Lombardi, D. Cazzato +6 more
2021Journal of Neurological Sciences0 citations
Semantic Scholar
Genetic study of Italian families affected by small fibre neuropathy identified variants in predisposing pain phenotype
K. Misra, S. Santoro, A. Zauli, M. Marchi +7 more
2021Journal of Neurological Sciences0 citations
Semantic Scholar
Correction: Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing
R. Almomani, M. Marchi, M. Sopacua, P. Lindsey +16 more
2021PLoS ONE0 citations Open access
Semantic Scholar
EVALUATION OF MOLECULAR INVERSION PROBE VERSUS TruSeq ® CUSTOM-NEXT GENERATION SEQUENCING METHODS TO IDENTIFY GENETIC VARIATIONS IN PAINFUL NEUROPATHIES : THE PROPANE STUDY
R. Almomani, M. Marchi, P. Lindsey, M. Sopacua +10 more
20170 citations
Semantic Scholar
MeCP2 investigation in a wide cohort of italian Rett patients and array methylation assay in six cases sharing the 1164_1027del44 MeCP2 mutation
S. Russo, R. Lupi, M. Marchi, M. Masciadri +7 more
20090 citations
Semantic Scholar
Putative identification of susceptibility genes for autism on 15q11-q13: Role of UBE3A and ATP10A
G. Masetti, M. T. Bonati, A. Gessi, F. Cavalleri +7 more
20060 citations
Semantic Scholar

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