E. Bellone

Most-cited papers

1. RFC1 expansions are a common cause of idiopathic sensory neuropathy

   R. Curro', A. Salvalaggio, S. Tozza, C. Gemelli +37 more

   2021Brain : a journal of neurology112 citations Open access

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2. Charcot‐Marie‐Tooth disease: frequency of genetic subtypes in a Southern Italy population

   F. Manganelli, S. Tozza, C. Pisciotta, E. Bellone +6 more

   2014Journal of the peripheral nervous system71 citations

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3. HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients

   Simona Capponi, Alessandro Geroldi, P. Fossa, M. Grandis +5 more

   2011Journal of the peripheral nervous system66 citations

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4. Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia.

   P. Ciotti, E. Di Maria, E. Bellone, F. Ajmar +1 more

   2004Journal of Molecular Diagnostics63 citations Open access

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5. Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1

   Simona Capponi, T. Geuens, Alessandro Geroldi, P. Origone +11 more

   2016Human Mutation52 citations Open access

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6. 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

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7. Outcome Measures and Rehabilitation Treatment in Patients Affected by Charcot‐Marie‐Tooth Neuropathy: A Pilot Study

   G. Maggi, M. Monti Bragadin, L. Padua, Elisabetta Fiorina +10 more

   2011American Journal of Physical Medicine & Rehabilitation43 citations

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8. Does parkin play a role in the peripheral nervous system? A family report

   G. Abbruzzese, S. Pigullo, A. Schenone, E. Bellone +8 more

   2004Movement Disorders39 citations

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9. Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: A case‐control study

   E. Di Maria, Rossella Gulli, S. Begni, A. De Luca +9 more

   2004American Journal of Medical Genetics Part B: Neuropsychiatric Genetics39 citations

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10. Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies

    P. Mandich, P. Fossa, Simona Capponi, Alessandro Geroldi +6 more

    2009European Journal of Human Genetics38 citations Open access

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11. Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

    R. Curro', N. Dominik, S. Facchini, E. Vegezzi +154 more

    2023medRxiv36 citations Open access

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12. Severe Neuropathy After Diphtheria-Tetanus-Pertussis Vaccination in a Child Carrying a Novel Frame-Shift Mutation in the Small Heat-Shock Protein 27 Gene

    P. Mandich, M. Grandis, A. Varese, Alessandro Geroldi +9 more

    2010Journal of Child Neurology34 citations

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13. The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter.

    M. Musso, P. Balestra, E. Bellone, D. Cassandrini +8 more

    2001Neurobiology of Disease33 citations Open access

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14. Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling

    P. Origone, C. Caponnetto, Monica Bandettini di Poggio, E. Ghiglione +4 more

    2010Amyotrophic Lateral Sclerosis31 citations

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15. 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

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16. Clinical and genetic features of a cohort of patients with MFN2-related neuropathy

    Elena Abati, Arianna Manini, D. Velardo, R. del Bo +9 more

    2022Scientific Reports30 citations Open access

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17. A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect

    E. Di Maria, Rossella Gulli, P. Balestra, D. Cassandrini +7 more

    2004Journal of Neurology Neurosurgery & Psychiatry29 citations Open access

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18. DRD3 Ser9Gly variant is not associated with essential tremor in a series of Italian patients

    C. Vitale, Rossella Gulli, P. Ciotti, C. Scaglione +7 more

    2008European Journal of Neurology28 citations

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19. Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor.

    S. Pigullo, A. De Luca, P. Barone, R. Marchese +10 more

    2004Parkinsonism & Related Disorders27 citations

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20. Influence of comorbidities on the phenotype of patients affected by Charcot-Marie-Tooth neuropathy type 1A.

    G. Ursino, M. Albertí, M. Grandis, L. Reni +9 more

    2013Neuromuscular Disorders25 citations

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21. Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients.

    Merit Lamp, P. Origone, Alessandro Geroldi, S. Verdiani +11 more

    2018Neurobiology of Aging24 citations

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22. Gain of glycosylation: a new pathomechanism of Myelin Protein Zero mutations

    V. Prada, M. Passalacqua, M. Bono, P. Luzzi +9 more

    2012Annals of Neurology23 citations Open access

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23. Reliability and Reproducibility of a RNA Preamplification Method for Low-density Array Analysis From Formalin-fixed Paraffin-embedded Breast Cancer Samples

    P. Ciotti, A. Garuti, A. Ballestrero, G. Cirmena +4 more

    2009Diagnostic molecular pathology (Print)23 citations

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24. No evidence of association between BDNF gene variants and age-at-onset of Huntington's disease.

    E. Di Maria, A. Marasco, Marzia Tartari, P. Ciotti +5 more

    2006Neurobiology of Disease22 citations Open access

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25. GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course.

    I. Pezzini, Alessandro Geroldi, Simona Capponi, Rossella Gulli +11 more

    2016Neuromuscular Disorders21 citations

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26. The spectrum of GNE mutations: allelic heterogeneity for a common phenotype

    M. Grandis, Rossella Gulli, D. Cassandrini, E. Gazzerro +10 more

    2010Neurological Sciences21 citations

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27. Fast course ALS presenting with vocal cord paralysis: Clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation

    P. Origone, C. Caponnetto, V. Mantero, E. Cichero +6 more

    2012Amyotrophic Lateral Sclerosis20 citations

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28. Tinetti and Berg balance scales correlate with disability in hereditary peripheral neuropathies: a preliminary study.

    M. M. Bragadin, L. Francini, E. Bellone, M. Grandis +7 more

    2015European Journal of Physical and Rehabilitation Medicine19 citations

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29. A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease.

    P. Ciotti, M. Luigetti, Alessandro Geroldi, Simona Capponi +7 more

    2014Journal of Neurological Sciences19 citations

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30. An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP

    E. Bellone, P. Balestra, G. Ribizzi, A. Schenone +4 more

    2005Journal of Neurology Neurosurgery & Psychiatry19 citations Open access

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31. Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients

    P. Origone, Alessandro Geroldi, Merit Lamp, Francesca Sanguineri +8 more

    2019Neurodegenerative Diseases18 citations

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32. Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier

    P. Origone, Fabio Gotta, Merit Lamp, L. Trevisan +10 more

    2018Cerebellum & Ataxias18 citations Open access

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33. A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?

    Fabio Gotta, Merit Lamp, Alessandro Geroldi, L. Trevisan +9 more

    2020Annals of Human Genetics17 citations

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34. Essential tremor is not associated with α‐synuclein gene haplotypes

    S. Pigullo, E. Di Maria, R. Marchese, E. Bellone +8 more

    200317 citations

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35. Diagnostic Value of Sural Nerve Biopsy: Retrospective Analysis of Clinical Cases From 1981 to 2017

    V. Prada, S. Massucco, Consuelo Venturi, Alessandro Geroldi +7 more

    2019Frontiers in Neurology16 citations Open access

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36. Enlarging the clinical spectrum associated with C9orf 72 repeat expansions: Findings in an Italian cohort of patients with Parkinsonian syndromes and relevance for genetic counselling

    P. Origone, S. Verdiani, P. Ciotti, Rossella Gulli +4 more

    2013Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration16 citations

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37. Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post‐mortem genetic analysis of tissue specimens

    P. Ciotti, P. Mandich, E. Bellone, P. Ceppa +5 more

    2011American Journal of Medical Genetics. Part A16 citations

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38. Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease

    P. Mandich, M. Grandis, Alessandro Geroldi, M. Acquaviva +4 more

    2008Journal of Human Genetics16 citations

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39. The suspected SARS-Cov-2 infection in a Charcot-Marie-Tooth patient undergoing postsurgical rehabilitation: the value of telerehabilitation for evaluation and continuing treatment

    V. Prada, E. Bellone, A. Schenone, M. Grandis

    2020International journal of rehabilitation research. Internationale Zeitschrift fur Rehabilitationsforschung. Revue internationale de recherches de readaptation15 citations Open access

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40. A novel mutation of myelin protein zero associated with an axonal form of Charcot–Marie–Tooth disease

    Lucio Santoro, F. Manganelli, E. Di Maria, Domenico Bordo +4 more

    2004Journal of Neurology Neurosurgery & Psychiatry15 citations

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41. Different consequences of EGR2 mutants on the transactivation of human Cx32 promoter.

    M. Musso, P. Balestra, F. Taroni, E. Bellone +1 more

    2003Neurobiology of Disease15 citations Open access

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42. Alternative Splicing in the Human PMP22 Gene: Implications in CMT1A Neuropathy

    Davide Visigalli, P. Castagnola, G. Capodivento, Alessandro Geroldi +5 more

    2016Human Mutation14 citations Open access

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43. A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family

    F. Manganelli, C. Pisciotta, M. Nolano, Simona Capponi +6 more

    2012Journal of the peripheral nervous system14 citations

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44. Essential tremor is not associated with alpha-synuclein gene haplotypes.

    S. Pigullo, E. Di Maria, R. Marchese, E. Bellone +8 more

    2003Movement Disorders13 citations

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45. No evidence of association between CAG expansions and essential tremor in a large cohort of Italian patients

    Simona Pigullo, E. Di Maria, R. Marchese, A. Assini +9 more

    2001Journal of neural transmission13 citations

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46. 1993–2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa

    P. Mandich, Merit Lamp, Fabio Gotta, Rossella Gulli +5 more

    2017Molecular Genetics & Genomic Medicine12 citations Open access

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47. GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features

    R. Biancheri, F. Zara, P. Striano, M. Pedemonte +7 more

    2006Journal of Neurology12 citations

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48. The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment

    C. Fiorillo, G. Capodivento, Alessandro Geroldi, S. Tozza +27 more

    2022Neuropathology and Applied Neurobiology11 citations Open access

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49. Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years

    C. Gemelli, Alessandro Geroldi, S. Massucco, L. Trevisan +19 more

    2022Life11 citations Open access

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50. Germline mutations in the von Hippel-Lindau gene in Italian patients.

    P. Ciotti, A. Garuti, Rossella Gulli, A. Ballestrero +2 more

    2009European Journal of Medical Genetics11 citations

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