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Research Output 2000 2019

2019

Early weight loss in amyotrophic lateral sclerosis: Outcome relevance and clinical correlates in a population-based cohort

Piemonte and Valle d’Aosta Register for ALS (PARALS), Jun 1 2019, In : Journal of Neurology, Neurosurgery and Psychiatry. 90, 6, p. 666-673 8 p.

Research output: Contribution to journalArticle

Amyotrophic Lateral Sclerosis
Weight Loss
Deglutition Disorders
Population
Body Mass Index

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy

Mancini, C., Giorgio, E., Rubegni, A., Pradotto, L., Bagnoli, S., Rubino, E., Prontera, P., Cavalieri, S., Di Gregorio, E., Ferrero, M., Pozzi, E., Riberi, E., Ferrero, P., Nigro, P., Mauro, A., Zibetti, M., Tessa, A., Barghigiani, M., Antenora, A., Sirchia, F. & 7 others, Piacentini, S., Silvestri, G., De Michele, G., Filla, A., Orsi, L., Santorelli, F. M. & Brusco, A., Jan 2019, In : European Journal of Neurology. 26, 1, p. 80-86 7 p.

Research output: Contribution to journalArticle

Cerebellar Ataxia
Homozygote
Ataxia
Heterozygote
Italy
2017

Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis

Iorio, A., De Lillo, A., De Angelis, F., Di Girolamo, M., Luigetti, M., Sabatelli, M., Pradotto, L., Mauro, A., Mazzeo, A., Stancanelli, C., Perfetto, F., Frusconi, S., My, F., Manfellotto, D., Fuciarelli, M. & Polimanti, R., Sep 1 2017, In : European Journal of Human Genetics. 25, 9, p. 1055-1060 6 p.

Research output: Contribution to journalArticle

Amyloidosis
Genetic Association Studies
Mutation
Transcriptome
Genes

Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis

Iorio, A., De Angelis, F., Di Girolamo, M., Luigetti, M., Pradotto, L. G., Mazzeo, A., Frusconi, S., My, F., Manfellotto, D., Fuciarelli, M. & Polimanti, R., Mar 23 2017, In : BMC Genomics. 18, 1, p. 254

Research output: Contribution to journalArticle

Prealbumin
Population
Genetic Association Studies
Atrial Appendage
Inborn Genetic Diseases
2016

Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation

Pradotto, L., Mencarelli, M., Bigoni, M., Milesi, A., Di Blasio, A. & Mauro, A., Dec 15 2016, In : Journal of the Neurological Sciences. 371, p. 81-84 4 p.

Research output: Contribution to journalArticle

Cerebellar Ataxia
Phenotype
Mutation
Genes
Missense Mutation

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

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

Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area

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., Mar 16 2016, (Accepted/In press) In : Journal of Neurology. p. 1-9 9 p.

Research output: Contribution to journalArticle

Italy
Multicenter Studies
Longitudinal Studies
Safety
Mutation

Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area

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., Mar 16 2016, (Accepted/In press) In : Journal of Neurology. p. 1-9 9 p.

Research output: Contribution to journalArticle

Italy
Multicenter Studies
Longitudinal Studies
Safety
Mutation

Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area

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., Mar 16 2016, (Accepted/In press) In : Journal of Neurology. p. 1-9 9 p.

Research output: Contribution to journalArticle

Italy
Multicenter Studies
Longitudinal Studies
Safety
Mutation

Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area

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., Mar 16 2016, (Accepted/In press) In : Journal of Neurology. p. 1-9 9 p.

Research output: Contribution to journalArticle

Italy
Multicenter Studies
Longitudinal Studies
Safety
Mutation

Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area

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., Mar 16 2016, (Accepted/In press) In : Journal of Neurology. p. 1-9 9 p.

Research output: Contribution to journalArticle

Italy
Multicenter Studies
Longitudinal Studies
Safety
Mutation

Utility of Boston Qualitative Scoring System for Rey-Osterrieth Complex Figure: evidence from a Parkinson’s Diseases sample

Scarpina, F., Ambiel, E., Albani, G., Pradotto, L. G. & Mauro, A., Jun 14 2016, (Accepted/In press) In : Neurological Sciences. p. 1-9 9 p.

Research output: Contribution to journalArticle

Parkinson Disease
Aptitude
Impulsive Behavior
ROC Curve
Dementia
2015

Most recent common ancestor of TTR Val30Met mutation in Italian population and its potential role in genotype-phenotype correlation

Iorio, A., De Angelis, F., Di Girolamo, M., Luigetti, M., Pradotto, L., Mauro, A., Manfellotto, D., Fuciarelli, M. & Polimanti, R., Jun 1 2015, In : Amyloid. 22, 2, p. 73-78 6 p.

Research output: Contribution to journalArticle

Prealbumin
Genetic Association Studies
Mutation
Population
Portugal
2012

Amyloid polyneuropathy following domino liver transplantation

Pradotto, L., Franchello, A., Milesi, A., Romagnoli, R., Bigoni, M., Vigna, L., Di Sapio, A., Salizzoni, M. & Mauro, A., Jun 2012, In : Muscle and Nerve. 45, 6, p. 918-919 2 p.

Research output: Contribution to journalArticle

A new NOTCH3 mutation presenting as primary intracerebral haemorrhage

Pradotto, L., Orsi, L., Daniele, D., Caroppo, P., Lauro, D., Milesi, A., Sellitti, L. & Mauro, A., Apr 15 2012, In : Journal of the Neurological Sciences. 315, 1-2, p. 143-145 3 p.

Research output: Contribution to journalArticle

CADASIL
Cerebral Hemorrhage
Hematoma
Mutation
Inborn Genetic Diseases

Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

Testi, S., Malerba, G., Ferrarini, M., Ragno, M., Pradotto, L., Mauro, A. & Fabrizi, G. M., Aug 15 2012, In : Journal of the Neurological Sciences. 319, 1-2, p. 37-41 5 p.

Research output: Contribution to journalArticle

CADASIL
Haplotypes
Mutation
Exons
Genetic Heterogeneity
2011

Electrogastrographyc activity in Parkinson's disease patients with and without motor fluctuations

Albani, G., El Assawy, N., Cattaldo, S., De Gennaro, M., Gregorini, F., Pradotto, L. & Mauro, A., Aug 1 2011, In : Movement Disorders. 26, 9, p. 1736-1740 5 p.

Research output: Contribution to journalArticle

Levodopa
Parkinson Disease
Stomach

Electrogastrographyc activity in Parkinson's disease patients with and without motor fluctuations.

Albani, G., El Assawy, N., Cattaldo, S., De Gennaro, M., Gregorini, F., Pradotto, L. & Mauro, A., Aug 1 2011, In : Movement Disorders. 26, 9, p. 1737-1740 4 p.

Research output: Contribution to journalArticle

Levodopa
Parkinson Disease
Stomach
2009

An atypical case of sporadic fatal insomnia

Priano, L., Giaccone, G., Mangieri, M., Albani, G., Limido, L., Brioschi, A., Pradotto, L., Orsi, L., Mortara, P., Fociani, P., Mauro, A. & Tagliavini, F., Aug 2009, In : Journal of Neurology, Neurosurgery and Psychiatry. 80, 8, p. 924-927 4 p.

Research output: Contribution to journalArticle

Prion Diseases
Sleep Initiation and Maintenance Disorders
Sleep
Colloid Cysts
Basal Ganglia

A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy

Brussino, A., Vaula, G., Cagnoli, C., Mauro, A., Pradotto, L., Daniele, D., Di Gregorio, E., Barberis, M., Arduino, C., Squadrone, S., Abete, M. C., Migone, N., Calabrese, O. & Brusco, A., Feb 2009, In : Journal of Neurology, Neurosurgery and Psychiatry. 80, 2, p. 237-240 4 p.

Research output: Contribution to journalArticle

Leukoencephalopathies
Genes
Gene Duplication
lamin B1
Sequence Deletion

Solid lipid nanoparticles carrying oligonucleotides inhibit vascular endothelial growth factor expression in rat glioma models

Brioschi, A. M., Calderoni, S., Pradotto, L. G., Guido, M., Strada, A., Zenga, F., Benech, C. A., Benech, F., Serpe, L., Zara, G. P., Musicanti, C., Ducati, A., Gasco, M. R. & Mauro, A., 2009, In : Journal of Nanoneuroscience. 1, 1, p. 65-74 10 p.

Research output: Contribution to journalArticle

Glioma
Oligonucleotides
Nanoparticles
Vascular Endothelial Growth Factor A
Lipids
2008

Sporadic vascular dementia as clinical presentation of a new missense mutation within exon 7 of NOTCH3 gene

Pradotto, L., Azan, G., Doriguzzi, C., Valentini, C. & Mauro, A., Aug 15 2008, In : Journal of the Neurological Sciences. 271, 1-2, p. 207-210 4 p.

Research output: Contribution to journalArticle

CADASIL
Vascular Dementia
Missense Mutation
Exons
Genes
2002

MDM2 overexpression is associated with short survival in adults with medulloblastoma

Giordana, M. T., Duó, D., Gasverde, S., Trevisan, E., Boghi, A., Morra, I., Pradotto, L., Mauro, A. & Chió, A., 2002, In : Neuro-Oncology. 4, 2, p. 115-122 8 p.

Research output: Contribution to journalArticle

Medulloblastoma
p53 Genes
Neoplasms
Radiotherapy
Mutation

Molecular genetic changes in a series of neuroepithelial tumors of childhood

Di Sapio, A., Morra, I., Pradotto, L., Guido, M., Schiffer, D. & Mauro, A., Sep 2002, In : Journal of Neuro-Oncology. 59, 2, p. 117-122 6 p.

Research output: Contribution to journalArticle

Neuroepithelial Neoplasms
Gene Amplification
erbB-1 Genes
Molecular Biology
Astrocytoma
2000

An Italian family with Ala-47 transthyretin mutation associated with cardiomyopathy and polyneuropathy

Solaro, C., Schenone, A., Di Sapio, A., Pradotto, L., Mancardi, G. L., Primavera, A. & Mauro, A., Jan 1 2000, In : Neuromuscular Disorders. 10, 1, p. 52-55 4 p.

Research output: Contribution to journalArticle

Prealbumin
Polyneuropathies
Cardiomyopathies
Heart Failure
Mutation