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Research Output

2020

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Inherited Neuropathy Consortium, May 2020, In : Nature Genetics. 52, 5, p. 473-481 9 p.

Research output: Contribution to journalArticle

Discovering the Italian phenotype of cerebral amyloid angiopathy (CAA): the SENECA project

on behalf of SENECA project, Jan 1 2020, (Accepted/In press) In : Neurological Sciences.

Research output: Contribution to journalArticle

2019

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)

Pareyson, D., Stojkovic, T., Reilly, M. M., Leonard-Louis, S., Laurà, M., Blake, J., Parman, Y., Battaloglu, E., Tazir, M., Bellatache, M., Bonello-Palot, N., Lévy, N., Sacconi, S., Guimarães-Costa, R., Attarian, S., Latour, P., Solé, G., Megarbane, A., Horvath, R., Ricci, G. & 22 others, Choi, B. O., Schenone, A., Gemelli, C., Geroldi, A., Sabatelli, M., Luigetti, M., Santoro, L., Manganelli, F., Quattrone, A., Valentino, P., Murakami, T., Scherer, S. S., Dankwa, L., Shy, M. E., Bacon, C. J., Herrmann, D. N., Zambon, A., Tramacere, I., Pisciotta, C., Magri, S., Previtali, S. C. & Bolino, A., Jul 1 2019, In : Annals of Neurology. 86, 1, p. 55-67 13 p.

Research output: Contribution to journalArticle

Expanding the spectrum of genes responsible for hereditary motor neuropathies

Previtali, S. C., Zhao, E., Lazarevic, D., Pipitone, G. B., Fabrizi, G. M., Manganelli, F., Mazzeo, A., Pareyson, D., Schenone, A., Taroni, F., Vita, G., Bellone, E., Ferrarini, M., Garibaldi, M., Magri, S., Padua, L., Pennisi, E., Pisciotta, C., Riva, N., Scaioli, V. & 11 others, Scarlato, M., Tozza, S., Geroldi, A., Jordanova, A., Ferrari, M., Molineris, I., Reilly, M. M., Comi, G., Carrera, P., Devoto, M. & Bolino, A., Oct 1 2019, In : Journal of Neurology, Neurosurgery and Psychiatry. 90, 10, p. 1171-1179 9 p.

Research output: Contribution to journalArticle

Instrumented balance and gait assessment in patients with charcot-marie-tooth peripheral neuropathy

Picardi, M., Caronni, A., Tropea, P., Montesano, M., Pisciotta, C., Pareyson, D. & Corbo, M., Jan 1 2019, Biosystems and Biorobotics. Springer International Publishing, p. 410-414 5 p. (Biosystems and Biorobotics; vol. 21).

Research output: Chapter in Book/Report/Conference proceedingChapter

Leukoencephalopathy With Predominant Infratentorial Involvement Caused by a Novel ABCD1 Mutation: Does the Spinocerebellar Variant of Adrenoleukodystrophy Exist?

Benzoni, C., Farina, L., Pensato, V., Marotta, G., Kuqo, A., Mauro, E., Pareyson, D. & Salsano, E., Nov 1 2019, In : The neurologist. 24, 6, p. 194-197 4 p.

Research output: Contribution to journalArticle

Longitudinal quantitative magnetic resonance imaging in adrenomyeloneuropathy

Politi, L. S., Castellano, A., Papinutto, N., Mauro, E., Pareyson, D., Henry, R. G., Falini, A. & Salsano, E., Oct 1 2019, In : European Journal of Neurology. 26, 10, p. 1341-1344 4 p.

Research output: Contribution to journalArticle

Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype

Callegari, I., Gemelli, C., Geroldi, A., Veneri, F., Mandich, P., D’Antonio, M., Pareyson, D., Shy, M. E., Schenone, A., Prada, V. & Grandis, M., Nov 1 2019, In : Journal of Neurology. 266, 11, p. 2629-2645 17 p.

Research output: Contribution to journalArticle

Outcome measures in the clinical evaluation of ambulatory Charcot-Marie-Tooth 1A subjects

Mori, L., Prada, V., Signori, A., Pareyson, D., Piscosquito, G., Padua, L., Pazzaglia, C., Fabrizi, G. M., Smania, N., Picelli, A., Schenone, A., Accogli, S., Bolla, S., Brugnera, A., Casati, E., Cattaneo, D., Crimi, E., Fontana, C., Francini, L., Maggi, G. & 8 others, Marinelli, L., Montesano, A., Monti Bragadin, M., Munari, D., Salerno, A., Scorsone, D., Zuccarino, R. & Grp, TPE. S., Feb 1 2019, In : European Journal of Physical and Rehabilitation Medicine. 55, 1, p. 47-55 9 p.

Research output: Contribution to journalArticle

2018

Adult leukoencephalopathies with prominent infratentorial involvement can be caused by Erdheim–Chester disease

Chiapparini, L., Cavalli, G., Langella, T., Venerando, A., de Luca, G., Raspante, S., Marotta, G., Pollo, B., Lauria, G., Cangi, M. G., Gerevini, S., Botturi, A., Pareyson, D., Dagna, L. & Salsano, E., 2018, In : Journal of Neurology. 265, 2, p. 273-284 12 p.

Research output: Contribution to journalArticle

Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy

Cortese, A., Laurà, M., Casali, C., Nishino, I., Hayashi, Y. K., Magri, S., Taroni, F., Stuani, C., Saveri, P., Moggio, M., Ripolone, M., Prelle, A., Pisciotta, C., Sagnelli, A., Pichiecchio, A., Reilly, M. M., Buratti, E. & Pareyson, D., Jan 1 2018, In : European Journal of Neurology. 25, 1, p. 154-163 10 p.

Research output: Contribution to journalArticle

Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy

Cortese, A., Laurà, M., Casali, C., Nishino, I., Hayashi, Y. K., Magri, S., Taroni, F., Stuani, C., Saveri, P., Moggio, M., Ripolone, M., Prelle, A., Pisciotta, C., Sagnelli, A., Pichiecchio, A., Reilly, M. M., Buratti, E. & Pareyson, D., Jan 2018, In : European Journal of Neurology. 25, 1, p. 154-163 10 p.

Research output: Contribution to journalArticle

Development and validation of the Charcot-Marie-Tooth Disease Infant Scale

Mandarakas, M. R., Menezes, M. P., Rose, K. J., Shy, R., Eichinger, K., Foscan, M., Estilow, T., Kennedy, R., Herbert, K., Bray, P., Refshauge, K., Ryan, M. M., Yiu, E. M., Farrar, M., Sampaio, H., Moroni, I., Pagliano, E., Pareyson, D., Yum, S. W., Herrmann, D. N. & 4 others, Acsadi, G., Shy, M. E., Burns, J. & Sanmaneechai, O., Dec 1 2018, In : Brain : a journal of neurology. 141, 12, p. 3319-3330 12 p.

Research output: Contribution to journalArticle

Different nerve ultrasound patterns in charcot-marie-tooth types and hereditary neuropathy with liability to pressure palsies

Padua, L., Coraci, D., Lucchetta, M., Paolasso, I., Pazzaglia, C., Granata, G., Cacciavillani, M., Luigetti, M., Manganelli, F., Pisciotta, C., Piscosquito, G., Pareyson, D. & Briani, C., 2018, In : Muscle and Nerve. 57, 1, p. E18-E23

Research output: Contribution to journalArticle

Different nerve ultrasound patterns in charcot-marie-tooth types and hereditary neuropathy with liability to pressure palsies

Padua, L., Coraci, D., Lucchetta, M., Paolasso, I., Pazzaglia, C., Granata, G., Cacciavillani, M., Luigetti, M., Manganelli, F., Pisciotta, C., Piscosquito, G., Pareyson, D. & Briani, C., Jan 1 2018, In : Muscle and Nerve. 57, 1, p. E18-E23

Research output: Contribution to journalArticle

Mitochondrial disorders of the retinal ganglion cells and the optic nerve

Finsterer, J., Mancuso, M., Pareyson, D., Burgunder, J. M. & Klopstock, T., Sep 1 2018, In : Mitochondrion. 42, p. 1-10 10 p.

Research output: Contribution to journalReview article

Neurofilament light, biomarkers, and Charcot-Marie-Tooth disease

Pareyson, D. & Shy, M. E., Feb 6 2018, In : Neurology. 90, 6, p. 257-259 3 p.

Research output: Contribution to journalReview article

PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease

Juneja, M., Azmi, A., Baets, J., Roos, A., Jennings, M. J., Saveri, P., Pisciotta, C., Bernard-Marissal, N., Schneider, B. L., Verfaillie, C., Chrast, R., Seeman, P., Hahn, A. F., De Jonghe, P., Maudsley, S., Horvath, R., Pareyson, D. & Timmerman, V., Aug 1 2018, In : Journal of Neurology, Neurosurgery and Psychiatry. 89, 8, p. 870-878 9 p.

Research output: Contribution to journalArticle

Prevalence and orthopedic management of foot and ankle deformities in Charcot–Marie–Tooth disease

Laurá, M., Singh, D., Ramdharry, G., Morrow, J., Skorupinska, M., Pareyson, D., Burns, J., Lewis, R. A., Scherer, S. S., Herrmann, D. N., Cullen, N., Bradish, C., Gaiani, L., Martinelli, N., Gibbons, P., Pfeffer, G., Phisitkul, P., Wapner, K., Sanders, J., Flemister, S. & 3 others, Shy, M. E., Reilly, M. M. & on behalf of the Inherited Neuropathies Consortium, Feb 1 2018, In : Muscle and Nerve. 57, 2, p. 255-259 5 p.

Research output: Contribution to journalArticle

The Italian neuromuscular registry: A coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage

Ambrosini, A., Calabrese, D., Avato, F. M., Catania, F., Cavaletti, G., Pera, M. C., Toscano, A., Vita, G., Monaco, L. & Pareyson, D., Oct 4 2018, In : Orphanet Journal of Rare Diseases. 13, 1, 176.

Research output: Contribution to journalArticle

2017

221st ENMC International Workshop:: Foot Surgery in Charcot-Marie-Tooth disease. 10–12 June 2016, Naarden, The Netherlands

Reilly, M. M., Pareyson, D., Burns, J., Laurá, M., Shy, M. E., Singh, D., Agren, P. H., Altmann, V., Baets, J., Briggs, P., Burns, J., Butcher, K., Gaiani, L., Genovese, F., Gibbons, P., Laurá, M., Louwerens, J. W., Manzur, A., Moroni, I., Martinelli, N. & 9 others, Pareyson, D., Pfeffer, G., Ramdharry, G., Reilly, M. M., Shy, M., Singh, D., van der Linden, M., Wenz, W. & ENMC CMT Foot Surgery Study Group, Dec 1 2017, In : Neuromuscular Disorders. 27, 12, p. 1138-1142 5 p.

Research output: Contribution to journalArticle

A novel NDRG1 mutation in a non-Romani patient with CMT4D/HMSN-Lom

Piscosquito, G., Magri, S., Saveri, P., Milani, M., Ciano, C., Farina, L., Taroni, F. & Pareyson, D., Mar 1 2017, In : Journal of the Peripheral Nervous System. 22, 1, p. 47-50 4 p.

Research output: Contribution to journalArticle

Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A

Fledrich, R., Mannil, M., Leha, A., Ehbrecht, C., Solari, A., Pelayo-Negro, A. L., Berciano, J., Schlotter-Weigel, B., Schnizer, T. J., Prukop, T., Garcia-Angarita, N., Czesnik, D., Haberlová, J., Mazanec, R., Paulus, W., Beissbarth, T., Walter, M. C., Hogrel, J. Y., Dubourg, O., Schenone, A. & 8 others, Baets, J., De Jonghe, P., Shy, M. E., Horvath, R., Pareyson, D., Seeman, P., Young, P. & Sereda, M. W., Nov 1 2017, In : Journal of Neurology, Neurosurgery and Psychiatry. 88, 11, p. 941-952 12 p.

Research output: Contribution to journalArticle

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1)

Panosyan, F. B., Laura, M., Rossor, A. M., Pisciotta, C., Piscosquito, G., Burns, J., Li, J., Yum, S. W., Lewis, R. A., Day, J., Horvath, R., Herrmann, D. N., Shy, M. E., Pareyson, D., Reilly, M. M. & Scherer, S. S., Aug 29 2017, In : Neurology. 89, 9, p. 927-935 9 p.

Research output: Contribution to journalArticle

Hereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsy

Sagnelli, A., Piscosquito, G., Di Bella, D., Fadda, L., Melzi, L., Morico, A., Ciano, C., Taroni, F., Facchetti, D., Salsano, E. & Pareyson, D., Mar 1 2017, In : Journal of the Peripheral Nervous System. 22, 1, p. 59-63 5 p.

Research output: Contribution to journalArticle

Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT

Tomaselli, P. J., Rossor, A. M., Horga, A., Jaunmuktane, Z., Carr, A., Saveri, P., Piscosquito, G., Pareyson, D., Laura, M., Blake, J. C., Poh, R., Polke, J., Houlden, H. & Reilly, M. M., Apr 11 2017, In : Neurology. 88, 15, p. 1445-1453 9 p.

Research output: Contribution to journalArticle

Natural history of Charcot-Marie-Tooth disease during childhood

Cornett, K. M. D., Menezes, M. P., Shy, R. R., Moroni, I., Pagliano, E., Pareyson, D., Estilow, T., Yum, S. W., Bhandari, T., Muntoni, F., Laura, M., Reilly, M. M., Finkel, R. S., Eichinger, K. J., Herrmann, D. N., Bray, P., Halaki, M., Shy, M. E., Burns, J., Cornett, K. M. D. & 27 others, Menezes, M. P., Ouvrier, R., Acsadi, G., Shy, R. R., Calabrese, D., Foscan, M., Sala, R., Moroni, I., Pagliano, E., Pareyson, D., Estilow, T., Yum, S. W., Bhandari, T., Muntoni, F., Laura, M., Reilly, M. M., Finkel, R. S., Eichinger, K. J., Herrmann, D. N., Bray, P., Rose, K., Halaki, M., Pallant, J., Lek, M., Shy, M. E., Burns, J. & for the CMTPedS Study Group, Sep 1 2017, In : Annals of Neurology. 82, 3, p. 353-359 7 p.

Research output: Contribution to journalArticle

Peripheral neuropathy in complex inherited diseases: An approach to diagnosis

Rossor, A. M., Carr, A. S., Devine, H., Chandrashekar, H., Pelayo-Negro, A. L., Pareyson, D., Shy, M. E., Scherer, S. S. & Reilly, M. M., Oct 1 2017, In : Journal of Neurology, Neurosurgery and Psychiatry. 88, 10, p. 846-863 18 p.

Research output: Contribution to journalArticle

Responsiveness of gait analysis parameters in a cohort of 71 CMT subjects

Lencioni, T., Piscosquito, G., Rabuffetti, M., Bovi, G., Di Sipio, E., Diverio, M., Moroni, I., Padua, L., Pagliano, E., Schenone, A., Pareyson, D. & Ferrarin, M., Aug 2017, In : Neuromuscular Disorders.

Research output: Contribution to journalArticle

Responsiveness of gait analysis parameters in a cohort of 71 CMT subjects

Lencioni, T., Piscosquito, G., Rabuffetti, M., Bovi, G., Di Sipio, E., Diverio, M., Moroni, I., Padua, L., Pagliano, E., Schenone, A., Pareyson, D. & Ferrarin, M., Nov 2017, In : Neuromuscular Disorders. 27, 11, p. 1029-1037 9 p.

Research output: Contribution to journalArticle

Transcriptional role of androgen receptor in the expression of long non-coding RNA Sox2OT in neurogenesis

Tosetti, V., Sassone, J., Ferri, A. L. M., Taiana, M., Bedini, G., Nava, S., Brenna, G., Resta, C. D., Pareyson, D., Giulio, A. M. D., Carelli, S., Parati, E. A. & Gorio, A., Jul 1 2017, In : PLoS One. 12, 7, e0180579.

Research output: Contribution to journalArticle

Transcriptional role of androgen receptor in the expression of long non-coding RNA Sox2OT in neurogenesis

Tosetti, V., Sassone, J., Ferri, ALM., Taiana, M., Bedini, G., Nava, S., Brenna, G., Di Resta, C., Pareyson, D., Di Giulio, AM., Carelli, S., Parati, EA. & Gorio, A., 2017, In : PLoS One. 12, 7, e0180579.

Research output: Contribution to journalArticle

2016

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

Visigalli, D., Castagnola, P., Capodivento, G., Geroldi, A., Bellone, E., Mancardi, G. L., Pareyson, D., Schenone, A. & Nobbio, L., Jan 1 2016, In : Human Mutation. 37, 1, p. 98-109 12 p.

Research output: Contribution to journalArticle

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

Visigalli, D., Castagnola, P., Capodivento, G., Geroldi, A., Bellone, E., Mancardi, G., Pareyson, D., Schenone, A. & Nobbio, L., Jan 1 2016, In : Human Mutation. 37, 1, p. 98-109 12 p.

Research output: Contribution to journalArticle

Clinical Trials in Spinal and Bulbar Muscular Atrophy—Past, Present, and Future

Weydt, P., Sagnelli, A., Rosenbohm, A., Fratta, P., Pradat, P. F., Ludolph, A. C. & Pareyson, D., Mar 1 2016, In : Journal of Molecular Neuroscience. 58, 3, p. 379-387 9 p.

Research output: Contribution to journalArticle

Combined central and peripheral demyelination: Clinical features, diagnostic findings, and treatment

Cortese, A., Franciotta, D., Alfonsi, E., Visigalli, N., Zardini, E., Diamanti, L., Prunetti, P., Osera, C., Gastaldi, M., Berzero, G., Pichiecchio, A., Piccolo, G., Lozza, A., Piscosquito, G., Salsano, E., Ceroni, M., Moglia, A., Bono, G., Pareyson, D. & Marchioni, E., Apr 15 2016, In : Journal of the Neurological Sciences. 363, p. 182-187 6 p.

Research output: Contribution to journalArticle

Combined central and peripheral demyelination: Clinical features, diagnostic findings, and treatment

Cortese, A., Franciotta, D., Alfonsi, E., Visigalli, N., Zardini, E., Diamanti, L., Prunetti, P., Osera, C., Gastaldi, M., Berzero, G., Pichiecchio, A., Piccolo, G., Lozza, A., Piscosquito, G., Salsano, E., Ceroni, M., Moglia, A., Bono, G., Pareyson, D. & Marchioni, E., Apr 15 2016, In : Journal of the Neurological Sciences. 363, p. 182-187 6 p.

Research output: Contribution to journalArticle

Combined central and peripheral demyelination: Clinical features, diagnostic findings, and treatment

Cortese, A., Franciotta, D., Alfonsi, E., Visigalli, N., Zardini, E., Diamanti, L., Prunetti, P., Osera, C., Gastaldi, M., Berzero, G., Pichiecchio, A., Piccolo, G., Lozza, A., Piscosquito, G., Salsano, E., Ceroni, M., Moglia, A., Bono, G., Pareyson, D. & Marchioni, E., Apr 15 2016, In : Journal of the Neurological Sciences. 363, p. 182-187 6 p.

Research output: Contribution to journalArticle

Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings

Sagnelli, A., Magri, S., Farina, L., Chiapparini, L., Marotta, G., Tonduti, D., Consonni, M., Scigliuolo, G., Benti, R., Pareyson, D., Taroni, F., Salsano, E. & Di Bella, D., Mar 1 2016, In : Journal of Neurology. 263, 3, p. 591-593 3 p.

Research output: Contribution to journalArticle

Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings

Sagnelli, A., Magri, S., Farina, L., Chiapparini, L., Marotta, G., Tonduti, D., Consonni, M., Scigliuolo, G. M., Benti, R., Pareyson, D., Taroni, F., Salsano, E. & Di Bella, D., Mar 1 2016, In : Journal of Neurology. 263, 3, p. 591-593 3 p.

Research output: Contribution to journalArticle

Erratum to: Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area (Journal of Neurology, DOI: 10.1007/s00415-016-8064-9)

Cortese, A., Vita, G., Luigetti, M., Russo, M., Bisogni, G., Sabatelli, M., Manganelli, F., Santoro, L., Cavallaro, T., Fabrizi, G. M., Schenone, A., Grandis, M., Gemelli, C., Mauro, A., Pradotto, L., Gentile, L., Stancanelli, C., Lozza, A., Perlini, S., Piscosquito, G. & 4 others, Calabrese, D., Mazzeo, A., Obici, L. P. & Pareyson, D., May 1 2016, In : Journal of Neurology. 263, 5, p. 925-926 2 p.

Research output: Contribution to journalArticle

Erratum to: Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area (Journal of Neurology, DOI: 10.1007/s00415-016-8064-9)

Cortese, A., Vita, G., Luigetti, M., Russo, M., Bisogni, G., Sabatelli, M., Manganelli, F., Santoro, L., Cavallaro, T., Fabrizi, G. M., Schenone, A., Grandis, M., Gemelli, C., Mauro, A., Pradotto, L. G., Gentile, L., Stancanelli, C., Lozza, A., Perlini, S., Piscosquito, G. & 4 others, Calabrese, D., Mazzeo, A., Obici, L. & Pareyson, D., May 1 2016, In : Journal of Neurology. 263, 5, p. 925-926 2 p.

Research output: Contribution to journalArticle

Erratum to: Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area (Journal of Neurology, DOI: 10.1007/s00415-016-8064-9)

Cortese, A., Vita, G., Luigetti, M., Russo, M., Bisogni, G., Sabatelli, M., Manganelli, F., Santoro, L., Cavallaro, T., Fabrizi, G. M., Schenone, A., Grandis, M., Gemelli, C., Mauro, A., Pradotto, L., Gentile, L., Stancanelli, C., Lozza, A., Perlini, S., Piscosquito, G. & 4 others, Calabrese, D., Mazzeo, A., Obici, L. P. & Pareyson, D., May 1 2016, In : Journal of Neurology. 263, 5, p. 925-926 2 p.

Research output: Contribution to journalArticle

Laryngeal and phrenic nerve involvement in a patient with hereditary neuropathy with liability to pressure palsies (HNPP)

Cortese, A., Piccolo, G., Lozza, A., Schreiber, A., Callegari, I., Moglia, A., Alfonsi, E. & Pareyson, D., Jul 2016, In : Neuromuscular Disorders. 26, 7, p. 455-458 4 p.

Research output: Contribution to journalArticle