IRIS
CORTESE, ANDREA
 Distribuzione geografica
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Continente #
NA - Nord America 2.150
EU - Europa 1.228
AS - Asia 553
AF - Africa 4
OC - Oceania 4
Totale 3.939
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Nazione #
US - Stati Uniti d'America 2.139
IE - Irlanda 569
CN - Cina 333
IT - Italia 229
SG - Singapore 162
FI - Finlandia 153
DE - Germania 138
BE - Belgio 33
IN - India 26
RU - Federazione Russa 26
FR - Francia 20
JP - Giappone 14
CZ - Repubblica Ceca 12
GB - Regno Unito 12
CA - Canada 10
UA - Ucraina 9
SE - Svezia 8
AT - Austria 6
AU - Australia 4
MY - Malesia 4
TR - Turchia 4
LT - Lituania 3
MU - Mauritius 3
ES - Italia 2
IR - Iran 2
KR - Corea 2
RO - Romania 2
AM - Armenia 1
EE - Estonia 1
GR - Grecia 1
KZ - Kazakistan 1
LU - Lussemburgo 1
MD - Moldavia 1
NL - Olanda 1
NP - Nepal 1
PA - Panama 1
PH - Filippine 1
SA - Arabia Saudita 1
SK - Slovacchia (Repubblica Slovacca) 1
TN - Tunisia 1
TW - Taiwan 1
Totale 3.939
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Città #
Chandler 597
Dublin 561
Ashburn 193
Boardman 181
Singapore 127
Helsinki 126
Princeton 99
Lawrence 97
Wilmington 94
Medford 71
Shanghai 63
Nanjing 60
Munich 58
Ann Arbor 50
Jacksonville 42
Beijing 40
Pavia 37
Brussels 33
Milan 32
New York 32
Los Angeles 27
Nanchang 26
Washington 24
Chicago 23
Pune 22
Seattle 22
Fairfield 21
Jiaxing 20
Rome 20
Hebei 18
Shenyang 17
Woodbridge 17
Changsha 16
Norwalk 16
Tokyo 14
Cambridge 12
Palermo 12
Falls Church 11
Florence 11
Brno 9
Hangzhou 9
Espoo 8
Tianjin 8
St Petersburg 7
Toronto 7
Dearborn 6
Nuremberg 6
Piscataway 6
Turin 6
Berlin 5
Brescia 5
London 5
Moscow 5
Santa Clara 5
Bloomsbury 4
Cagliari 4
Dallas 4
Falkenstein 4
Hanover 4
Lido 4
Naples 4
Bari 3
Freiburg 3
Gorgonzola 3
Guangzhou 3
Jinan 3
Menlo Park 3
Mumbai 3
Ningbo 3
Olomouc 3
Padova 3
San Genesio Ed Uniti 3
Trieste 3
Tronzano Vercellese 3
Canyon Country 2
Cedar Knolls 2
Chieti 2
Chignolo d'Isola 2
Chongqing 2
Clifton 2
Como 2
Frankfurt am Main 2
Gatchina 2
Grassobbio 2
Jiangmen 2
Kunming 2
Limbiate 2
Madrid 2
Modena 2
Orange 2
Ottawa 2
Paris 2
Redmond 2
Redwood City 2
Rozzano 2
Saint-Fons 2
San Francisco 2
Suwon 2
Treviglio 2
Voronezh 2
Totale 3.158
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Nome #
Combined central and peripheral demyelination: Clinical features, diagnostic findings, and treatment 76
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome 75
Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study 70
Predictors of outcome in a large retrospective cohort of patients with transverse myelitis 68
Theta-Burst Stimulation of the Cerebellum Interferes with Internal Representations of Sensory-Motor Information Related to Eye Movements in Humans 66
Neurofascin-155 as a putative antigen in combined central and peripheral demyelination 64
Repurposing diflunisal for familial amyloid polyneuropathy: A randomized clinical trial 63
AUTOIMMUNITY, ENVIRONMENT AND GENETICS IN INFLAMMATORY DISORDERS OF CENTRAL AND PERIPHERAL NERVOUS SYSTEM 63
Atypical CIDP: Diagnostic criteria, progression and treatment response. Data from the Italian CIDP Database 62
Theta burst stimulation of the cerebellum impairs motor learning in humans. 61
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 56
Relevance of diagnostic investigations in chronic inflammatory demyelinating poliradiculoneuropathy: Data from the Italian CIDP database 56
Ambient air pollution boosts MS activity through upregulation of adhesion molecules and chemokine receptors on circulating lymphocytes 55
Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area 54
Air pollution is associated to the multiple sclerosis inflammatory activity as measured by brain MRI 53
Antibodies to neurofascin, contactin-1, and contactin-associated protein 1 in CIDP: Clinical relevance of IgG isotype 53
RFC1 expansions are a common cause of idiopathic sensory neuropathy 52
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia 51
Diagnostics of anti-MAG antibody polyneuropathy 51
Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy 50
Air pollution as a contributor to the inflammatory activity of multiple sclerosis 50
Impact of environmental factors and physical activity on disability and quality of life in CIDP 50
Multiple memory-guided saccades: movement memory improves the accuracy of memory-guided saccades 49
Diagnostics of dysimmune peripheral neuropathies 49
Contraction or sequence variant of an intergenic repeat-Alu element leads to inherited thyroid disease 48
Botulinum toxin is effective in the management of neurogenic dysphagia. clinical-electrophysiological findings and tips on safety in different neurological disorders 48
Risk factors for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): antecedent events, lifestyle and dietary habits. Data from the Italian CIDP Database 48
Anti-NF155 chronic inflammatory demyelinating polyradiculoneuropathy strongly associates to HLA-DRB15 46
Efficacy of rituximab as third-line therapy in combined central and peripheral demyelination 45
Autoantibodies to nodal isoforms of neurofascin in chronic inflammatory demyelinating polyneuropathy 45
Copper deficiency in Wilson's disease: Peripheral neuropathy and myelodysplastic syndrome complicating zinc treatment 44
CLINICAL FEATURES AND SEROLOGICAL PROFILE OF COMBINED CENTRAL AND PERIPHERAL DEMYELINATION 43
Impact of multiple sclerosis risk loci in postinfectious neurological syndromes 43
Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy 42
Late onset oculopharyngeal muscular dystrophy with prominent neurogenic features and short GCG trinucleotide expansion 42
Guillain-Barré syndrome associated with the D222E variant of the 2009 pandemic influenza A (H1N1) virus: Case report and review of the literature 42
Author response 42
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes 41
Variable echo time imaging for detecting the short T2* components of the sciatic nerve: a validation study 41
Diagnosis and therapy of acute disseminated encephalomyelitis and its variants 41
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) 41
Severe cognitive impairment in a patient with CMT2A 40
Remarkable Rituximab Response on Tremor Related to Acute-Onset Chronic Inflammatory Demyelinating Polyradiculoneuropathy in an Antineurofascin155 Immunoglobulin G4–Seropositive Patient 40
Correction: Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy (PLoS ONE (2019) 14: 2 (e0212647) DOI: 10.1371/journal.pone.0212647) 40
Monitoring late complications of zinc treatment in Wilson's disease. Reply to the letter: Copper deficiency in Wilson's disease: An avoidable complication of treatment: Monitoring Late Complications of Zinc Treatment in Wilson's Disease 40
Varicella zoster virus-associated polyradiculoneuritis 39
MR microneurography and quantitative T2 and DP measurements of the distal tibial nerve in CIDP 39
Diagnostic challenges in hereditary transthyretin amyloidosis with polyneuropathy: Avoiding misdiagnosis of a treatable hereditary neuropathy 39
A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele 38
Corrigendum to “MR microneurography and quantitative T2 and DP measurements of the distal tibial nerve in CIDP” [Journal of the Neurological Sciences Volume 400, 15 May 2019, Pages 15–20](S0022510X19301145)(10.1016/j.jns.2019.03.001) 37
A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement 37
Novel CLN3 mutation causing autophagic vacuolar myopathy. 36
Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic 36
RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome 36
Erratum: Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1 36
Longitudinal observational study of sporadic inclusion body myositis: Implications for clinical trials 35
Laryngeal and phrenic nerve involvement in a patient with hereditary neuropathy with liability to pressure palsies (HNPP) 35
Expression pattern of matrix metalloproteinases-2 and -9 and their tissue inhibitors in patients with chronic inflammatory demyelinating polyneuropathy 35
Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. 34
Relazione tra infiammazione encefalica ed esposizione al particolato atmosferico (PM10) in pazienti con sclerosi multipla 33
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion 33
Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1 33
Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia (Nature Genetics, (2019), 51, 4, (649-658), 10.1038/s41588-019-0372-4) 33
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy 33
Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy 32
Assessing mNIS+7Ionis and international neurologists' proficiency in a familial amyloidotic polyneuropathy trial 32
Correlation of clinical and molecular features in spinal bulbar muscular atrophy 32
Botulinum Toxin Is Effective in the Management of Neurogenic Dysphagia. Clinical-Electrophysiological Findings and Tips on Safety in Different Neurological Disorder 32
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes (Nature Genetics, (2020), 52, 5, (473-481), 10.1038/s41588-020-0615-4) 32
RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia 32
Towards a standardised analysis of CSF in inflammatory neuropathies 32
Muscle quantitative MRI as a novel biomarker in hereditary transthyretin amyloidosis with polyneuropathy: a cross-sectional study 32
Doxycycline plus tauroursodeoxycholic acid for transthyretin amyloidosis: a phase II study 31
Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy 31
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination 30
Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease 30
CANVAS: case report on a novel repeat expansion disorder with late-onset ataxia 30
Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre 28
null 28
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia 27
Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis 27
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families 26
Progressive post infectious neurological syndromes with a poor outcome: Long term follow-up and neurofilament light chain quantification 25
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort 24
Frequency of diabetes and other comorbidities in chronic inflammatory demyelinating polyradiculoneuropathy and their impact on clinical presentation and response to therapy 24
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): genetic and clinical aspects 24
RFC1 Intronic Repeat Expansions Absent in Pathologically Confirmed Multiple Systems Atrophy 23
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease 22
Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 21
IGHMBP2 mutation associated with organ-specific autonomic dysfunction 21
Graphical modelling of molecular networks underlying sporadic inclusion body myositis 21
CANVAS: a late onset ataxia due to biallelic intronic AAGGG expansions 20
Dopa-Responsive Parkinsonism in a Patient With Homozygous RFC1 Expansions 20
Erratum: Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia (The American Journal of Human Genetics (2019) 104(4) (767–773), (S0002929719300977), (10.1016/j.ajhg.2019.03.001)) 20
Chronic inflammatory demyelinating polyradiculoneuropathy: can a diagnosis be made in patients not fulfilling electrodiagnostic criteria? 20
Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy 17
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease 17
Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report 16
Plasma neurofilament light chain: an early biomarker for hereditary ATTR amyloid polyneuropathy 15
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis 14
Totale 3.884
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Categoria #
all - tutte 25.883
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 25.883
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202052 0 0 0 0 0 0 7 4 3 20 17 1
2020/2021202 4 1 0 8 60 7 6 64 14 16 8 14
2021/2022490 5 3 7 14 14 35 9 37 40 4 68 254
2022/20231.553 150 132 24 163 105 166 8 75 658 14 36 22
2023/2024847 87 98 32 54 56 195 25 68 5 37 53 137
2024/2025652 137 140 29 94 84 161 7 0 0 0 0 0
Totale 4.107