E. Salsano

D. Pareyson, E. Tolosano, I. Kurth, 2017, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Magnetic Resonance Imaging Alteration of the Brain in a Patient With Coronavirus Disease 2019 (COVID-19) and Anosmia.

L. Politi, M. Grimaldi, E. Salsano, 2020, JAMA neurology.

Neuropsychological features of adult form of Alexander disease

D. Pareyson, F. Taroni, D. D. Di Bella, 2019, Journal of the Neurological Sciences.

Leukoencephalopathy With Predominant Infratentorial Involvement Caused by a Novel ABCD1 Mutation

D. Pareyson, G. Marotta, E. Salsano, 2019, The neurologist.

Leukodystrophy or genetic leukoencephalopathy? Nature does not make leaps.

E. Salsano, 2015, Molecular genetics and metabolism.

Optical coherence tomography in adult adrenoleukodystrophy: a cross-sectional and longitudinal study

C. Gellera, D. Pareyson, E. Salsano, 2020, Neurological Sciences.

Lack of benefit of acetyl-dl-leucine in patients with multiple system atrophy of the cerebellar type

D. Pareyson, G. Scigliuolo, E. Salsano, 2017, Journal of the Neurological Sciences.

Neuro-telehealth for fragile patients in a tertiary referral neurological institute during the COVID-19 pandemic in Milan, Lombardy

M. de Curtis, A. Silvani, P. Tiraboschi, 2021, Neurological Sciences.

Triheptanoin Supplementation Does not Affect Nutritional Status: A Case Report of Two Siblings With Adult Polyglucosan Body Disease

A. Battezzati, A. Leone, S. Bertoli, 2019, Journal of the American College of Nutrition.

A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders

E. Lamantea, D. Pareyson, D. Ghezzi, 2015, Neurology.

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

M. Zeviani, E. Lamantea, G. Uziel, 2013, Journal of Neurology.

Hereditary predominantly motor neuropathies

D. Pareyson, E. Salsano, C. Marchesi, 2009, Current opinion in neurology.

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

C. Pantaleoni, F. Taroni, C. Mariotti, 2019, American journal of medical genetics. Part A.

CSF and Blood Levels of GFAP in Alexander Disease

F. Eichler, A. Vanderver, R. Schiffmann, 2015, eNeuro.

Disorders of the Nervous System CSF and Blood Levels of GFAP in Alexander Disease 1 , 2 , 3

Davide, Adeline, F. Eichler, 2022 .

Peripheral neuropathy in mitochondrial disorders

M. Zeviani, D. Pareyson, E. Salsano, 2013, The Lancet Neurology.

High frequency of the H63D mutation of the hemochromatosis gene (HFE) in malignant gliomas

G. Finocchiaro, B. Pollo, E. Salsano, 2001, Neurology.

The first case of the TARDBP p.G294V mutation in a homozygous state: is a single pathogenic allele sufficient to cause ALS?

C. Gellera, L. Mazzini, S. D'alfonso, 2019, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Loss of heterozygosity studies in extracranial metastatic meningiomas

L. Minati, F. Menghi, G. Finocchiaro, 2007, Journal of Neuro-Oncology.

Novel (ovario) leukodystrophy related to AARS2 mutations

A. Vanderver, R. Schiffmann, T. Meitinger, 2014, Neurology.

Association of chromosome 10 losses and negative prognosis in oligoastrocytomas

G. Broggi, A. Silvani, G. Finocchiaro, 2002, Annals of neurology.

International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy

A. Moser, F. Eichler, G. Raymond, 2022, Neurology.

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

C. Gellera, D. Pareyson, F. Taroni, 2011, Neuromuscular Disorders.

Late-onset sporadic ataxia, pontine lesion, and retroperitoneal fibrosis: a case of Erdheim-Chester disease

G. Finocchiaro, B. Pollo, D. Pareyson, 2008, Neurological Sciences.

Clinical neurogenetics: recent advances

D. Pareyson, E. Salsano, 2012, Journal of Neurology.

Metachromatic Leukodystrophy: Too Frequent (Mis)Diagnosis?

A. Biffi, L. Politi, E. Salsano, 2018, JAMA neurology.

Slowly progressive sensory hemisyndrome: unusual presentation of paraneoplastic sensory neuronopathy

V. Scaioli, D. Pareyson, G. Lauria, 2010, Journal of the peripheral nervous system : JPNS.

Adult‐onset leukoencephalopathy caused by CSF1R mutations: Is all that glitters gold?

E. Salsano, C. Benzoni, 2022, Annals of clinical and translational neurology.

Spinal cord involvement in adult-onset metabolic and genetic diseases

C. Marelli, L. Politi, P. Labauge, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

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

B. Pollo, G. Cavalli, G. de Luca, 2018, Journal of Neurology.

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

G. De Michele, A. Filla, E. Salsano, 2013, European journal of neurology.

Immunological Reactivity against Neuronal and Non-Neuronal Antigens in Sporadic Adult-Onset Cerebellar Ataxia

S. di Donato, D. Pareyson, M. Colecchia, 2009, European Neurology.

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

M. Zeviani, E. Lamantea, A. Giovagnoli, 2011, Journal of the Neurological Sciences.

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

D. Geschwind, M. Vidailhet, D. Galasko, 2018, European Journal of Human Genetics.

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

D. Geschwind, M. Vidailhet, D. Galasko, 2018, European Journal of Human Genetics.

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

B. Castellotti, C. Gellera, G. Uziel, 2012, Orphanet Journal of Rare Diseases.

Asymptomatic adrenoleukodystrophy in elderly males

C. Gellera, D. Pareyson, E. Salsano, 2020, Journal of Neurology.

Brain fluorodeoxyglucose PET in adrenoleukodystrophy

G. Uziel, A. Giovagnoli, D. Pareyson, 2014, Neurology.

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

B. Castellotti, C. Gellera, D. Pareyson, 2014, Brain : a journal of neurology.

E. Bertini, A. Vanderver, N. Brunetti‐Pierri, 2019, Annals of clinical and translational neurology.

Vertical supranuclear gaze palsy in Niemann-Pick type C disease

D. Zee, D. Pareyson, E. Salsano, 2012, Neurological Sciences.

Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson’s disease with brain iron accumulation through pseudo-exon activation

V. Tiranti, D. Pareyson, L. Chiapparini, 2021, neurogenetics.

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

D. Pareyson, F. Taroni, D. D. Di Bella, 2017, Journal of the peripheral nervous system : JPNS.

Pendular nystagmus in progressive ataxia and palatal tremor

D. Pareyson, M. Grisoli, C. Mariotti, 2011, Journal of Neurology.

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

F. Tagliavini, A. Erbetta, M. Salmona, 2014, Neurobiology of Aging.

Lower limb areflexia without central and peripheral conduction abnormalities is highly suggestive of Gerstmann–Sträussler–Scheinker disease Pro102Leu

F. Tagliavini, V. Scaioli, D. Pareyson, 2011, Journal of the Neurological Sciences.

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

B. Castellotti, C. Gellera, L. Antelmi, 2016, Brain Research.

A new mutation in GJC2 associated with subclinical leukodystrophy

Sarah Wong, E. Lamantea, V. Scaioli, 2014, Journal of Neurology.

Pain Study in X-Linked Adrenoleukodystrophy in Males and Females

A. Aloisi, G. Cevenini, V. Bachiocco, 2021, Pain and Therapy.

Hypomyelinating leukodystrophies in adults: Clinical and genetic features

C. Gellera, D. Pareyson, F. Taroni, 2020, European journal of neurology.

Pendular nystagmus in hypomyelinating leukodystrophy

L. D'Incerti, D. Pareyson, F. Taroni, 2013, Journal of Clinical Neuroscience.

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.

A. Bizzi, M. Zeviani, E. Lamantea, 2009, Brain : a journal of neurology.

Hereditary spastic paraplegia is a novel phenotype for GJA 12 / GJC 2 mutations

A. Bizzi, M. Zeviani, E. Lamantea, 2009 .

A cross‐sectional, prospective ocular motor study in 72 patients with Niemann‐Pick disease type C

M. Strupp, S. Bardins, M. Walterfang, 2021, European journal of neurology.

Ocular motor biomarkers in Niemann-Pick disease type C: A prospective cross-sectional multicontinental study in 72 patients

M. Strupp, S. Bardins, M. Walterfang, 2020, medRxiv.

Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C.

B. Borroni, A. Padovani, A. Benussi, 2017, JIMD reports.

Neurofascin-155 as a putative antigen in combined central and peripheral demyelination

E. Marchioni, D. Pareyson, J. Devaux, 2016, Neurology: Neuroimmunology & Neuroinflammation.

Human Adipose-Derived Mesenchymal Stem Cells as a New Model of Spinal and Bulbar Muscular Atrophy

E. Parati, C. Gellera, D. Pareyson, 2014, PloS one.

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

Monica Consonni, D. Pareyson, L. Chiapparini, 2016, Journal of Neurology.

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

D. Pareyson, M. Mora, A. Mazzeo, 2014, Neuromuscular Disorders.

Frontotemporal Dementia and Chorea Associated with a Compound Heterozygous TREM2 Mutation.

V. Redaelli, G. Rossi, A. Del Sole, 2018, Journal of Alzheimer's disease : JAD.

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

B. Castellotti, L. Chiapparini, V. Saletti, 2019, Metabolic Brain Disease.

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

S. Salani, M. Moggio, F. Magri, 2015, Neuromuscular Disorders.

Reliability of clinical outcome measures in Charcot-Marie-Tooth disease

D. Radice, D. Pareyson, A. Solari, 2008, Neuromuscular Disorders.

Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients.

T. Foiadelli, C. Pantaleoni, R. Battini, 2021, Molecular genetics and metabolism.

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

N. Bresolin, G. Tedeschi, D. Pareyson, 2014, Neurology.

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

D. Pareyson, E. Salsano, M. Morbin, 2013, Journal of the peripheral nervous system : JPNS.

Saposin B deficiency as a cause of adult-onset metachromatic leukodystrophy

B. Castellotti, C. Gellera, D. Pareyson, 2019, Neurology.

Epileptic syndrome with myoclonus as manifestation of adult-onset CblC deficiency

A. Giovagnoli, E. Visani, L. Canafoglia, 2022, Journal of Neurology.

K. Bhatia, A. Lees, N. Wood, 2020, Neurology: Genetics.

Metachromatic leukodystrophy with late adult-onset: diagnostic clues and differences from other genetic leukoencephalopathies with dementia

E. Salsano, C. Benzoni, M. Moscatelli, 2021, Journal of Neurology.

Adult-Onset Krabbe Disease: The Importance of a Systematic Approach to Brain MRI Findings.

E. Salsano, M. C. Macário, J. Durães, 2019, Neurology Clinical Practice.

Significance and clinical suggestions for the somatosensory evoked potentials increased in amplitude revealed by a large sample of neurological patients

P. Lanteri, E. Visani, L. Maggi, 2022, Neurological Sciences.

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

F. Eichler, A. Fatemi, K. Hoffmann, 2023, The Lancet Neurology.

Spinal and bulbar muscular atrophy and Charcot–Marie–Tooth type 1A: Co-existence of two rare neuromuscular genetic diseases in the same patient

C. Gellera, V. Scaioli, D. Pareyson, 2015, Neuromuscular Disorders.

FABP4 is a candidate marker of cerebellar liponeurocytomas

P. Ferroli, G. Finocchiaro, B. Pollo, 2012, Journal of Neuro-Oncology.

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

G. Uziel, A. Giovagnoli, D. Pareyson, 2012, Neurological Sciences.

Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients

C. Gellera, V. Scaioli, D. Pareyson, 2023, Journal of Neurology.

Expression profile of frizzled receptors in human medulloblastomas

F. Menghi, G. Finocchiaro, B. Pollo, 2011, Journal of Neuro-Oncology.

A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders

E. Lamantea, D. Pareyson, D. Ghezzi, 2015, Neurology.

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

D. Pareyson, F. Taroni, D. D. Di Bella, 2014, Neurology.

Extensive leukoencephalopathy in coeliac disease: report of three cases and review of the literature

D. Pareyson, E. Salsano, C. Benzoni, 2022, Neurological Sciences.

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.

A. Bizzi, M. Zeviani, E. Lamantea, 2009, Brain : a journal of neurology.

Dysregulation of FLVCR1a-dependent mitochondrial calcium handling in neural progenitors causes congenital hydrocephalus

M. Shoukier, F. Altruda, E. Tolosano, 2024, Cell reports. Medicine.

Hereditary predominantly motor neuropathies

D. Pareyson, E. Salsano, C. Marchesi, 2009, Current opinion in neurology.

Tonic pupil following the use of dermatoscope.

D. Pareyson, L. Politi, E. Salsano, 2009, Acta neurologica Taiwanica.