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2019

From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations

Gatti, M., Magri, S., Nanetti, L., Sarto, E., Di Bella, D., Salsano, E., Pantaleoni, C., Mariotti, C. & Taroni, F., Nov 1 2019, In : American Journal of Medical Genetics, Part A. 179, 11, p. 2277-2283 7 p.

Research output: Contribution to journalArticle

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

Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency

Masnada, S., Groenweg, S., Saletti, V., Chiapparini, L., Castellotti, B., Salsano, E., Visser, W. E. & Tonduti, D., Dec 1 2019, In : Metabolic Brain Disease. 34, 6, p. 1565-1575 11 p.

Research output: Contribution to journalArticle

RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum

Mendes, M. I., Green, L. M. C., Bertini, E., Tonduti, D., Aiello, C., Smith, D., Salsano, E., Beerepoot, S., Hertecant, J., von Spiczak, S., Livingston, J. H., Emrick, L., Fraser, J., Russell, L., Bernard, G., Magri, S., Di Bella, D., Taroni, F., Koenig, M. K., Moroni, I. & 12 others, Cappuccio, G., Brunetti-Pierri, N., Rhee, J., Mendelsohn, B. A., Helbig, I., Helbig, K., Muhle, H., Ismayl, O., Vanderver, A. L., Salomons, G. S., van der Knaap, M. S. & Wolf, N. I., 2019, In : Annals of Clinical and Translational Neurology. 7, 1, p. 83-93 11 p.

Research output: Contribution to journalArticle

Open Access

Spinal cord involvement in adult-onset metabolic and genetic diseases

Marelli, C., Salsano, E., Politi, L. S. & Labauge, P., Feb 1 2019, In : Journal of Neurology, Neurosurgery and Psychiatry. 90, 2, p. 211-218 8 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

Primary brain calcification: an international study reporting novel variants and associated phenotypes

The French PFBC study group, Oct 1 2018, In : European Journal of Human Genetics. 26, 10, p. 1462-1477 16 p.

Research output: Contribution to journalArticle

2017

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

2016

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. 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

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

In-vivo brain H1-MR-Spectroscopy identification and quantification of 2-hydroxyglutarate in L-2-Hydroxyglutaric aciduria

Anghileri, E., Bertolino, N., Salsano, E., Antelmi, L., Carpinelli, P., Castellotti, B., Zucca, I., Gellera, C., Bisogno, R., Caccia, C. & Cuccarini, V., Oct 1 2016, In : Brain Research. 1648, p. 506-511 6 p.

Research output: Contribution to journalArticle

Quantitative MRI of the spinal cord and brain in adrenomyeloneuropathy: In vivo assessment of structural changes

Castellano, A., Papinutto, N., Cadioli, M., Brugnara, G., Iadanza, A., Scigliuolo, G., Pareyson, D., Uziel, G., Köhler, W., Aubourg, P., Falini, A., Henry, R. G., Politi, L. S. & Salsano, E., 2016, In : Brain. 139, 6, p. 1735-1746 12 p.

Research output: Contribution to journalArticle

Quantitative MRI of the spinal cord and brain in adrenomyeloneuropathy: In vivo assessment of structural changes

Castellano, A., Papinutto, N., Cadioli, M., Brugnara, G., Iadanza, A., Scigliuolo, G., Pareyson, D., Uziel, G., Köhler, W., Aubourg, P., Falini, A., Henry, R. G., Politi, L. S. & Salsano, E., 2016, In : Brain. 139, 6, p. 1735-1746 12 p.

Research output: Contribution to journalArticle

2015

A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders

Ardissone, A., Piscosquito, G., Legati, A., Langella, T., Lamantea, E., Garavaglia, B., Salsano, E., Farina, L., Moroni, I., Pareyson, D. & Ghezzi, D., May 26 2015, In : Neurology. 84, 21, p. 2193-2195 3 p.

Research output: Contribution to journalArticle

Leukodystrophy or genetic leukoencephalopathy? Nature does not make leaps

Salsano, E., Apr 1 2015, In : Molecular Genetics and Metabolism. 114, 4, p. 491-493 3 p.

Research output: Contribution to journalArticle

2014

Adult Polyglucosan Body Disease: Clinical and histological heterogeneity of a large Italian family

Colombo, I., Pagliarani, S., Testolin, S., Salsano, E., Napoli, L. M., Bordoni, A., Salani, S., D'Adda, E., Morandi, L., Farina, L., Magri, F., Riva, M., Prelle, A., Sciacco, M., Comi, G. P. & Moggio, M., Sep 15 2014, In : Neuromuscular Disorders. 25, 5, p. 423-428 6 p.

Research output: Contribution to journalArticle

Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease

Sagnelli, A., Savoiardo, M., Marchesi, C., Morandi, L., Mora, M., Morbin, M., Farina, L., Mazzeo, A., Toscano, A., Pagliarani, S., Lucchiari, S., Comi, G. P., Salsano, E. & Pareyson, D., Mar 2014, In : Neuromuscular Disorders. 24, 3, p. 272-276 5 p.

Research output: Contribution to journalArticle

A new mutation in gjc2 associated with subclinical leukodystrophy

Abrams, C. K., Flores-Obando, R., Scherer, S. S., Wong, S., Freidin, M. M., Lamantea, E., Farina, L., Scaioli, V., Pareyson, D. & Salsano, E., 2014, In : Journal of Neurology. 261, 1, p. 1929-1938 10 p.

Research output: Contribution to journalArticle

Brain fluorodeoxyglucose PET in adrenoleukodystrophy

Salsano, E., Marotta, G., Manfredi, V., Giovagnoli, A. R., Farina, L., Savoiardo, M., Pareyson, D., Benti, R. & Uziel, G., Sep 1 2014, In : Neurology. 83, 11, p. 981-989 9 p.

Research output: Contribution to journalArticle

Different mutations at V363 MAPT codon are associated with atypical clinical phenotypes and show unusual structural and functional features

Rossi, G., Bastone, A., Piccoli, E., Morbin, M., Mazzoleni, G., Fugnanesi, V., Beeg, M., Del Favero, E., Cantù, L., Motta, S., Salsano, E., Pareyson, D., Erbetta, A., Elia, A. E., Del Sorbo, F., Silani, V., Morelli, C., Salmona, M. & Tagliavini, F., Feb 2014, In : Neurobiology of Aging. 35, 2, p. 408-417 10 p.

Research output: Contribution to journalArticle

Human adipose-derived mesenchymal stem cells as a new model of spinal and bulbar muscular atrophy

Dossena, M., Bedini, G., Rusmini, P., Giorgetti, E., Canazza, A., Tosetti, V., Salsano, E., Sagnelli, A., Mariotti, C., Gellera, C., Navone, S. E., Marfia, G., Alessandri, G., Corsi, F., Parati, E. A., Pareyson, D. & Poletti, A., Nov 13 2014, In : PLoS One. 9, 11, e112746.

Research output: Contribution to journalArticle

Is overwork weakness relevant in Charcot-Marie-Tooth disease?

Piscosquito, G., Reilly, M. M., Schenone, A., Fabrizi, G. M., Cavallaro, T., Santoro, L., Vita, G., Quattrone, A., Padua, L., Gemignani, F., Visioli, F., Laurà, M., Calabrese, D., Hughes, R. A. C., Radice, D., Solari, A., Pareyson, D., Besta, C., Marchesi, C., Salsano, E. & 40 others, Nanetti, L., Marelli, C., Scaioli, V., Ciano, C., Rimoldi, M., Lauria, G., Rizzetto, E., Camozzi, F., Narciso, E., Grandis, M., Monti-Bragadin, M., Nobbio, L., Casano, A., Bertolasi, L., Cabrini, I., Corrà, K., Rizzuto, N., Manganelli, F., Pisciotta, C., Nolano, M., Mazzeo, A., Di Leo, R., Majorana, G., Russo, M., Valentino, P., Nisticò, R., Pirritano, D., Lucisano, A., Canino, M., Pazzaglia, C., Granata, G., Foschini, M., Brindani, F., Vitetta, F., Allegri, I., Bogani, P., Blake, J., Koltzenburg, M., Hutton, E. & Lunn, M., Mar 21 2014, (Accepted/In press) In : Journal of Neurology, Neurosurgery and Psychiatry.

Research output: Contribution to journalArticle

Memory loss: Do not forget the mammillary bodies

Prodi, E., Salsano, E., Catricalà, E., Messina, S., Pareyson, D. & Savoiardo, M., Mar 2014, In : Neurological Sciences. 35, 3, p. 473-474 2 p.

Research output: Contribution to journalArticle

Novel (ovario) leukodystrophy related to AARS2 mutations

Dallabona, C., Diodato, D., Kevelam, S. H., Haack, T. B., Wong, L. J., Salomons, G. S., Baruffini, E., Melchionda, L., Mariotti, C., Strom, T. M., Meitinger, T., Prokisch, H., Chapman, K., Colley, A., Rocha, H., Ounap, K., Schiffmann, R., Salsano, E., Savoiardo, M., Hamilton, E. M. & 8 others, Abbink, T. E. M., Wolf, N. I., Ferrero, I., Lamperti, C., Zeviani, M., Vanderver, A., Ghezzi, D. & Van Der Knaap, M. S., Jun 10 2014, In : Neurology. 82, 23, p. 2063-2071 9 p.

Research output: Contribution to journalArticle

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48

Pensato, V., Castellotti, B., Gellera, C., Pareyson, D., Ciano, C., Nanetti, L., Salsano, E., Piscosquito, G., Sarto, E., Eoli, M., Moroni, I., Soliveri, P., Lamperti, E., Chiapparini, L., Di Bella, D., Taroni, F. & Mariotti, C., 2014, In : Brain. 137, 7, p. 1907-1920 14 p.

Research output: Contribution to journalArticle

Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients

Mannil, M., Solari, A., Leha, A., Pelayo-Negro, A. L., Berciano, J., Schlotter-Weigel, B., Walter, M. C., Rautenstrauss, B., Schnizer, T. J., Schenone, A., Seeman, P., Kadian, C., Schreiber, O., Angarita, N. G., Fabrizi, G. M., Gemignani, F., Padua, L., Santoro, L., Quattrone, A., Vita, G. & 57 others, Calabrese, D., Marchesi, C., Salsano, E., Nanetti, L., Marelli, C., Scaioli, V., Ciano, C., Rimoldi, M., Lauria, G., Rizzetto, E., Camozzi, F., Narciso, E., Grandis, M., Monti-Bragadin, M., Nobbio, L., Cavallaro, T., Casano, A., Bertolasi, L., Cabrini, I., Corrà, K., Manganelli, F., Pisciotta, C., Nolano, M., Mazzeo, A., Aguennouz, M., Di Leo, R., Majorana, G., Lanzano, N., Valenti, F., Valentino, P., Nisticò, R., Pirritano, D., Lucisano, A., Canino, M., Pazzaglia, C., Granata, G., Foschini, M., Brindani, F., Vitetta, F., Allegri, I., Visioli, F., Bogani, P., Visioli, F., Blake, J., Koltzenburg, M., Hutton, E., Lunn, M., Young, P., Laurà, M., Haberlová, J., Mazanec, R., Paulus, W., Beissbarth, T., Shy, M. E., Reilly, M. M., Pareyson, D. & Sereda, M. W., 2014, In : Neuromuscular Disorders. 24, 11, p. 1003-1017 15 p.

Research output: Contribution to journalArticle

Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation

Di Bella, D., Pareyson, D., Savoiardo, M., Farina, L., Ciano, C., Caldarazzo, S., Sagnelli, A., Bonato, S., Nava, S., Bresolin, N., Tedeschi, G., Taroni, F. & Salsano, E., Sep 1 2014, In : Neurology. 83, 13, p. 1217-1218 2 p.

Research output: Contribution to journalArticle

2013

Adult-onset leukodystrophies from respiratory chain disorders: Do they exist?

Salsano, E., Farina, L., Lamperti, C., Piscosquito, G., Salerno, F., Morandi, L., Carrara, F., Lamantea, E., Zeviani, M., Uziel, G., Savoiardo, M. & Pareyson, D., Jun 2013, In : Journal of Neurology. 260, 6, p. 1617-1623 7 p.

Research output: Contribution to journalArticle

An autoinflammatory neurological disease due to interleukin 6 hypersecretion

Salsano, E., Rizzo, A., Bedini, G., Bernard, L., Dallolio, V., Volorio, S., Lazzaroni, M., Ceccherini, I., Lazarevic, D., Cittaro, D., Stupka, E., Paterra, R., Farina, L., Savoiardo, M., Pareyson, D. & Sciacca, F. L., Feb 21 2013, (Accepted/In press) In : Journal of Neuroinflammation. p. 29 1 p.

Research output: Contribution to journalArticle

Coexistence of Charcot-Marie-Tooth disease type 1A and anti-MAG neuropathy

Piscosquito, G., Salsano, E., Ciano, C., Palamara, L., Morbin, M. & Pareyson, D., Jun 2013, In : Journal of the Peripheral Nervous System. 18, 2, p. 185-188 4 p.

Research output: Contribution to journalArticle

Dominant Charcot-Marie-Tooth syndrome and cognate disorders

Pareyson, D., Marchesi, C. & Salsano, E., 2013, In : Handbook of Clinical Neurology. 115, p. 817-845 29 p.

Research output: Contribution to journalArticle

Pendular nystagmus in hypomyelinating leukodystrophy

Bassani, R., Pareyson, D., D'Incerti, L., Di Bella, D., Taroni, F. & Salsano, E., Oct 2013, In : Journal of Clinical Neuroscience. 20, 10, p. 1443-1445 3 p.

Research output: Contribution to journalArticle

Peripheral neuropathy in mitochondrial disorders

Pareyson, D., Piscosquito, G., Moroni, I., Salsano, E. & Zeviani, M., Oct 2013, In : The Lancet Neurology. 12, 10, p. 1011-1024 14 p.

Research output: Contribution to journalArticle

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataracts (PHARC) screening in an Italian population

Criscuolo, C., Guacci, A., Carbone, R., Lieto, M., Salsano, E., Nanetti, L., Michele, G. D. & Filla, A., Apr 2013, In : European Journal of Neurology. 20, 4

Research output: Contribution to journalArticle

Selective theory of mind impairment and cerebellar atrophy: A case report

Parente, A., Manfredi, V., Tarallo, A., Salsano, E., Erbetta, A., Pareyson, D. & Giovagnoli, A. R., Aug 2013, In : Journal of Neurology. 260, 8, p. 2166-2169 4 p.

Research output: Contribution to journalArticle

2012

Clinical neurogenetics: Recent advances

Pareyson, D. & Salsano, E., Oct 2012, In : Journal of Neurology. 259, 10, p. 2255-2260 6 p.

Research output: Contribution to journalArticle

Effectiveness of valproate for the treatment of manic-like behavior in X-linked adrenoleukodystrophy

Salsano, E., Gambini, O., Giovagnoli, A. R., Farina, L., Uziel, G. & Pareyson, D., Oct 2012, In : Neurological Sciences. 33, 5, p. 1197-1199 3 p.

Research output: Contribution to journalArticle

Expression profile of frizzled receptors in human medulloblastomas

Salsano, E., Paterra, R., Figus, M., Menghi, F., Maderna, E., Pollo, B., Solero, C. L., Massimi, L. & Finocchiaro, G., Jan 2012, In : Journal of Neuro-Oncology. 106, 2, p. 271-280 10 p.

Research output: Contribution to journalArticle

FABP4 is a candidate marker of cerebellar liponeurocytomas

Anghileri, E., Eoli, M., Paterra, R., Ferroli, P., Pollo, B., Cuccarini, V., Maderna, E., Tringali, G., Saini, M., Salsano, E. & Finocchiaro, G., Jul 2012, In : Journal of Neuro-Oncology. 108, 3, p. 513-519 7 p.

Research output: Contribution to journalArticle

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

Salsano, E., Tabano, S., Sirchia, S. M., Colapietro, P., Castellotti, B., Gellera, C., Rimoldi, M., Pensato, V., Mariotti, C., Pareyson, D., Miozzo, M. & Uziel, G., 2012, In : Orphanet Journal of Rare Diseases. 7, 1, 10.

Research output: Contribution to journalArticle

Vertical supranuclear gaze palsy in Niemann-Pick type C disease

Salsano, E., Umeh, C., Rufa, A., Pareyson, D. & Zee, D. S., Mar 23 2012, In : Neurological Sciences. 33, 6, p. 1225-1232 8 p.

Research output: Contribution to journalArticle

2011

Co-occurrence of amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2A in a patient with a novel mutation in the mitofusin-2 gene

Marchesi, C., Ciano, C., Salsano, E., Nanetti, L., Milani, M., Gellera, C., Taroni, F., Fabrizi, G. M., Uncini, A. & Pareyson, D., Feb 2011, In : Neuromuscular Disorders. 21, 2, p. 129-131 3 p.

Research output: Contribution to journalArticle

Mitochondrial dementia: A sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation

Salsano, E., Giovagnoli, A. R., Morandi, L., MacCagnano, C., Lamantea, E., Marchesi, C., Zeviani, M. & Pareyson, D., Jan 15 2011, In : Journal of the Neurological Sciences. 300, 1-2, p. 165-168 4 p.

Research output: Contribution to journalArticle