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E. Salsano · SciRah

Researcher profile · Semantic Scholar

E. Salsano

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E. Salsano — researcher profile on SciRah

h-index: 27
Works: 127
Citations: 2,770

Most-cited papers

Magnetic Resonance Imaging Alteration of the Brain in a Patient With Coronavirus Disease 2019 (COVID-19) and Anosmia.
L. Politi, E. Salsano, M. Grimaldi
2020JAMA Neurology357 citations Open access
Semantic Scholar
Novel (ovario) leukodystrophy related to AARS2 mutations
C. Dallabona, D. Diodato, Sietske H. G. Kevelam, T. Haack +24 more
2014Neurology197 citations Open access
Semantic Scholar
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
V. Pensato, B. Castellotti, C. Gellera, D. Pareyson +13 more
2014Brain : a journal of neurology155 citations
Semantic Scholar
Peripheral neuropathy in mitochondrial disorders.
D. Pareyson, G. Piscosquito, I. Moroni, E. Salsano +1 more
2013Lancet Neurology118 citations
Semantic Scholar
Combined central and peripheral demyelination: Clinical features, diagnostic findings, and treatment.
A. Cortese, D. Franciotta, E. Alfonsi, N. Visigalli +16 more
2016Journal of Neurological Sciences87 citations
Semantic Scholar
International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy
M. Engelen, W. J. V. van Ballegoij, E. Mallack, K. V. van Haren +24 more
2022Neurology79 citations Open access
Semantic Scholar
Vertical supranuclear gaze palsy in Niemann-Pick type C disease
E. Salsano, C. Umeh, A. Rufa, D. Pareyson +1 more
2012Neurological Sciences74 citations Open access
Semantic Scholar
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis
N. Dominik, S. Magri, R. Curro', Elena Abati +114 more
2023Brain : a journal of neurology69 citations Open access
Semantic Scholar
Primary brain calcification: an international study reporting novel variants and associated phenotypes
E. Ramos, M. Carecchio, R. Lemos, J. Ferreira +33 more
2018European Journal of Human Genetics65 citations Open access
Semantic Scholar
A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders
A. Ardissone, G. Piscosquito, A. Legati, T. Langella +7 more
2015Neurology54 citations Open access
Semantic Scholar
Quantitative MRI of the spinal cord and brain in adrenomyeloneuropathy: in vivo assessment of structural changes.
A. Castellano, N. Papinutto, M. Cadioli, Gianluca Brugnara +10 more
2016Brain : a journal of neurology53 citations
Semantic Scholar
Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation
D. Di Bella, D. Pareyson, M. Savoiardo, L. Farina +9 more
2014Neurology45 citations Open access
Semantic Scholar
CSF and Blood Levels of GFAP in Alexander Disease
Paige L. Jany, G. Agosta, William S. Benko, J. Eickhoff +15 more
2015eNeuro42 citations Open access
Semantic Scholar
Different mutations at V363 MAPT codon are associated with atypical clinical phenotypes and show unusual structural and functional features.
G. Rossi, A. Bastone, E. Piccoli, M. Morbin +15 more
2014Neurobiology of Aging40 citations
Semantic Scholar
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
Semantic Scholar
FABP4 is a candidate marker of cerebellar liponeurocytomas
E. Anghileri, M. Eoli, R. Paterra, P. Ferroli +7 more
2012Journal of Neuro-Oncology33 citations
Semantic Scholar
Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2–3 trial
Wolfgang Köhler, M. Engelen, F. Eichler, R. Lachmann +19 more
2023Lancet Neurology31 citations Open access
Semantic Scholar
RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum
Marisa I. Mendes, L. Green, E. Bertini, D. Tonduti +28 more
2019Annals of Clinical and Translational Neurology29 citations Open access
Semantic Scholar
Posterior column ataxia with retinitis pigmentosa coexisting with sensory‐autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation
M. Castori, S. Morlino, M. Ungelenk, D. Pareyson +5 more
2017American Journal of Medical Genetics Part B: Neuropsychiatric Genetics27 citations
Semantic Scholar
Spinal cord involvement in adult-onset metabolic and genetic diseases
C. Marelli, E. Salsano, L. Politi, P. Labauge
2018Journal of Neurology Neurosurgery & Psychiatry26 citations
Semantic Scholar
X‐linked Charcot‐Marie‐Tooth type 1: stroke‐like presentation of a novel GJB1 mutation
A. Sagnelli, G. Piscosquito, L. Chiapparini, C. Ciano +5 more
2014Journal of the peripheral nervous system22 citations
Semantic Scholar
From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations
M. Gatti, S. Magri, L. Nanetti, Elisa Sarto +5 more
2019American Journal of Medical Genetics. Part A21 citations
Semantic Scholar
Neurofascin-155 as a putative antigen in combined central and peripheral demyelination
A. Cortese, Jérôme Devaux, E. Zardini, Constance Manso +13 more
2016Neurology: Neuroimmunology & Neuroinflammation21 citations Open access
Semantic Scholar
Hypomyelinating leukodystrophies in adults: Clinical and genetic features
D. Di Bella, S. Magri, C. Benzoni, L. Farina +12 more
2020European Journal of Neurology20 citations
Semantic Scholar
MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism
V. Chelban, M. Carecchio, Gillian Rea, A. Bowirrat +22 more
2020Neurology: Genetics20 citations Open access
Semantic Scholar
A New Mutation in Gjc2 Associated with Subclinical Leukodystrophy
C. Abrams, S. Scherer, Rafael E. Flores-Obando, M. Freidin +6 more
2014Journal of Neurology20 citations Open access
Semantic Scholar
Adult leukoencephalopathies with prominent infratentorial involvement can be caused by Erdheim–Chester disease
L. Chiapparini, G. Cavalli, T. Langella, A. Venerando +11 more
2018Journal of Neurology19 citations
Semantic Scholar
Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency
S. Masnada, Stefan Groenweg, V. Saletti, L. Chiapparini +4 more
2019Metabolic brain disease18 citations
Semantic Scholar
Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family.
I. Colombo, S. Pagliarani, S. Testolin, E. Salsano +12 more
2015Neuromuscular Disorders18 citations
Semantic Scholar
Human Adipose-Derived Mesenchymal Stem Cells as a New Model of Spinal and Bulbar Muscular Atrophy
Marta Dossena, G. Bedini, P. Rusmini, E. Giorgetti +13 more
2014PLoS ONE18 citations Open access
Semantic Scholar
An autoinflammatory neurological disease due to interleukin 6 hypersecretion
E. Salsano, Ambra Rizzo, G. Bedini, L. Bernard +12 more
2013Journal of Neuroinflammation18 citations Open access
Semantic Scholar
Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C.
A. Benussi, Maria Sofia Cotelli, M. Cosseddu, V. Bertasi +5 more
2017JIMD Reports16 citations Open access
Semantic Scholar
Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings
A. Sagnelli, S. Magri, L. Farina, L. Chiapparini +9 more
2016Journal of Neurology16 citations
Semantic Scholar
A systematic review and meta-analysis of GFAP gene variants in Alexander disease
A. Grossi, Francesca Rosamilia, Silvia Carestiato, E. Salsano +2 more
2024Scientific Reports15 citations Open access
Semantic Scholar
Frontotemporal Dementia and Chorea Associated with a Compound Heterozygous TREM2 Mutation
V. Redaelli, E. Salsano, L. Colleoni, Paola Corbetta +4 more
2018Journal of Alzheimer's Disease15 citations
Semantic Scholar
Brain fluorodeoxyglucose PET in adrenoleukodystrophy
E. Salsano, G. Marotta, V. Manfredi, A. Giovagnoli +5 more
2014Neurology15 citations
Semantic Scholar
Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease.
A. Sagnelli, M. Savoiardo, C. Marchesi, L. Morandi +10 more
2014Neuromuscular Disorders15 citations
Semantic Scholar
Severe worsening of adult-onset Alexander disease after minor head trauma: Report of two patients and review of the literature.
C. Benzoni, Domenico Aquino, D. Di Bella, Elisa Sarto +4 more
2020Journal of clinical neuroscience14 citations
Semantic Scholar
Dysregulation of FLVCR1a-dependent mitochondrial calcium handling in neural progenitors causes congenital hydrocephalus
F. Bertino, Dibyanti Mukherjee, Massimo Bonora, Christoph P. Bagowski +35 more
2024Cell Reports Medicine12 citations Open access
Semantic Scholar
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients.
Eleonora Mura, F. Nicita, S. Masnada, R. Battini +13 more
2021Molecular Genetics and Metabolism12 citations
Semantic Scholar
In-vivo brain H1-MR-Spectroscopy identification and quantification of 2-hydroxyglutarate in L-2-Hydroxyglutaric aciduria.
E. Anghileri, N. Bertolino, E. Salsano, L. Antelmi +7 more
2016Brain Research12 citations Open access
Semantic Scholar
Selective theory of mind impairment and cerebellar atrophy: a case report
A. Parente, V. Manfredi, A. Tarallo, E. Salsano +3 more
2013Journal of Neurology12 citations
Semantic Scholar
The first case of the TARDBP p.G294V mutation in a homozygous state: is a single pathogenic allele sufficient to cause ALS?
L. Corrado, V. Pensato, R. Croce, Alice Di Pierro +9 more
2019Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration11 citations
Semantic Scholar
Hereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsy
A. Sagnelli, G. Piscosquito, D. Di Bella, L. Fadda +7 more
2017Journal of the peripheral nervous system11 citations
Semantic Scholar
A cross‐sectional, prospective ocular motor study in 72 patients with Niemann‐Pick disease type C
T. Brémovà-Ertl, L. Abel, M. Walterfang, E. Salsano +12 more
2021European Journal of Neurology9 citations Open access
Semantic Scholar
Biopsy-proven primary angiitis of the central nervous system mimicking leukodystrophy: A case report and review of the literature.
L. Caputi, A. Erbetta, G. Marucci, D. Pareyson +4 more
2019Journal of clinical neuroscience9 citations
Semantic Scholar
Dominant Charcot-Marie-Tooth syndrome and cognate disorders.
D. Pareyson, C. Marchesi, E. Salsano
2013Handbook of Clinical Neurology8 citations
Semantic Scholar
Genetic diseases misdiagnosed as multiple sclerosis: Observational study and review of literature.
Daniele Mandia, N. Shor, Alise K. Carlson, Emmanuel Obusez +13 more
2025Multiple Sclerosis and Related Disorders7 citations
Semantic Scholar
Brainstem Chipmunk Sign: A Diagnostic Imaging Clue across All Subtypes of Alexander Disease
Thais Armangue, M. T. Whitehead, D. Tonduti, L. Farina +9 more
2024American Journal of Neuroradiology7 citations Open access
Semantic Scholar
Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients
C. Benzoni, M. Moscatelli, L. Farina, S. Magri +20 more
2023Journal of Neurology7 citations
Semantic Scholar

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G. Piscosquito — researcher profile on SciRah

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C. Gellera — researcher profile on SciRah

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C. Ciano — researcher profile on SciRah

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Elisa Sarto — researcher profile on SciRah

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M. Savoiardo — researcher profile on SciRah