IRIS Institutional Research Information System - AIR Archivio Istituzionale della Ricerca

MONFRINI, EDOARDO
 Distribuzione geografica
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Continente #
AS - Asia 3.932
NA - Nord America 3.602
EU - Europa 3.400
SA - Sud America 353
AF - Africa 98
OC - Oceania 52
Continente sconosciuto - Info sul continente non disponibili 1
Totale 11.438
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Nazione #
US - Stati Uniti d'America 3.430
CN - Cina 1.214
IT - Italia 1.185
SG - Singapore 1.128
GB - Regno Unito 442
DE - Germania 441
HK - Hong Kong 409
BR - Brasile 265
RU - Federazione Russa 258
IN - India 233
VN - Vietnam 228
FR - Francia 208
BD - Bangladesh 181
SE - Svezia 159
NL - Olanda 156
TR - Turchia 120
CA - Canada 115
FI - Finlandia 92
JP - Giappone 91
KR - Corea 90
ES - Italia 79
ID - Indonesia 75
IE - Irlanda 67
CI - Costa d'Avorio 48
AU - Australia 41
DK - Danimarca 41
AR - Argentina 35
PL - Polonia 35
CH - Svizzera 32
MX - Messico 31
GR - Grecia 28
SA - Arabia Saudita 24
BE - Belgio 23
AT - Austria 22
PT - Portogallo 21
IL - Israele 20
IQ - Iraq 19
RO - Romania 18
PH - Filippine 16
UA - Ucraina 16
HU - Ungheria 15
IR - Iran 15
CO - Colombia 14
CL - Cile 11
NZ - Nuova Zelanda 10
CZ - Repubblica Ceca 9
MA - Marocco 9
ZA - Sudafrica 9
EC - Ecuador 8
NO - Norvegia 8
TW - Taiwan 8
UZ - Uzbekistan 8
VE - Venezuela 8
TH - Thailandia 7
AE - Emirati Arabi Uniti 6
EG - Egitto 6
HR - Croazia 6
KE - Kenya 6
LK - Sri Lanka 6
MY - Malesia 6
PE - Perù 6
RS - Serbia 6
DZ - Algeria 5
KZ - Kazakistan 5
PK - Pakistan 5
SK - Slovacchia (Repubblica Slovacca) 5
TN - Tunisia 5
CR - Costa Rica 4
JO - Giordania 4
LV - Lettonia 4
TT - Trinidad e Tobago 4
BA - Bosnia-Erzegovina 3
CY - Cipro 3
EE - Estonia 3
HN - Honduras 3
JM - Giamaica 3
KG - Kirghizistan 3
LU - Lussemburgo 3
NG - Nigeria 3
SC - Seychelles 3
AL - Albania 2
AZ - Azerbaigian 2
BG - Bulgaria 2
BO - Bolivia 2
BY - Bielorussia 2
DO - Repubblica Dominicana 2
ET - Etiopia 2
GT - Guatemala 2
LT - Lituania 2
MD - Moldavia 2
NI - Nicaragua 2
NP - Nepal 2
PY - Paraguay 2
SI - Slovenia 2
UY - Uruguay 2
AM - Armenia 1
BB - Barbados 1
BS - Bahamas 1
CU - Cuba 1
EU - Europa 1
Totale 11.426
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Città #
Singapore 572
Ashburn 456
Milan 386
Hong Kong 319
Dallas 275
Southend 262
San Jose 233
Hefei 204
Chandler 181
Beijing 173
Frankfurt am Main 151
Council Bluffs 134
New York 130
Los Angeles 124
Bengaluru 90
Santa Clara 90
Istanbul 89
Fairfield 81
Ho Chi Minh City 74
Lauterbourg 65
Buffalo 64
Hanoi 64
Munich 64
Wilmington 63
Rome 62
Chicago 61
Dublin 60
Jakarta 59
Moscow 59
Seattle 57
Seoul 57
Redwood City 55
Helsinki 54
Abidjan 48
Tokyo 47
Houston 45
Guangzhou 44
Boardman 41
Ann Arbor 40
Toronto 40
Shanghai 39
Princeton 38
São Paulo 38
Woodbridge 38
London 35
The Dalles 35
Paris 31
Nuremberg 30
Montreal 28
Naples 28
Phoenix 28
Cambridge 27
Bologna 24
Atlanta 22
Columbus 22
Warsaw 22
Des Moines 21
Tianjin 21
Nanjing 20
Amsterdam 19
Turin 19
Cangzhou 18
Jinan 18
Riyadh 18
Chengdu 17
Genoa 17
Lappeenranta 17
Valladolid 17
Vienna 17
Changsha 16
Hangzhou 16
Melbourne 16
Mumbai 16
Washington 16
Athens 15
Brussels 15
Da Nang 15
Madrid 15
Orem 15
Turku 15
Düsseldorf 14
Florence 14
Salt Lake City 14
Shenzhen 14
Barcelona 12
Brooklyn 12
Mexico City 12
San Diego 12
Silver Spring 12
Tampa 12
Wuhan 12
Berlin 11
Bodio Lomnago 11
Budapest 11
Catania 11
Fuzhou 11
Grafing 11
Groningen 11
Haiphong 11
Las Vegas 11
Totale 6.306
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Nome #
A de novo C19orf12 heterozygous mutation in a patient with MPAN 573
Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy 501
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study 451
SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy 437
Clinical reasoning: a 75-year-old man with parkinsonism, mood depression, and weight loss 371
Systemic involvement in adult-onset leukoencephalopathy with intracranial calcifications and cysts (Labrune syndrome) with a novel mutation of the SNORD118 gene 331
A novel homozygous VPS11 variant may cause generalized dystonia 320
Mutations in TMEM230 are rare in autosomal dominant Parkinson's disease 319
Expanding the genotypic and phenotypic spectrum of Beta-propeller-associated neurodegeneration (BPAN) 314
A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation 285
Unravelling Genetic Factors Underlying Corticobasal Syndrome: A Systematic Review 260
Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia 255
Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency 251
Microscopic Polyangiitis With Selective Involvement of Central and Peripheral Nervous System : A Case Report 247
GABRB1‐related early onset developmental and epileptic encephalopathy: Clinical trajectory and novel de novo mutation 242
Unleashing the potential of mRNA therapeutics for inherited neurological diseases 238
Mutational analysis of COQ2 in patients with MSA in Italy 232
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk 229
THE ROLE OF NEXT-GENERATION SEQUENCING IN THE DISCOVERY OF NOVEL GENETIC CAUSES OF DYSTONIA 225
Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations 221
Cognitive and Autonomic Dysfunction in Multiple System Atrophy Type P and C: A Comparative Study 215
A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism 208
Dysautonomia in Parkinson's Disease: Impact of Glucocerebrosidase Gene Mutations on Cardiovascular Autonomic Control 195
NUS1 and Epilepsy-myoclonus-ataxia Syndrome: An Under-recognized Entity? 183
Juvenile-onset dystonia with spasticity in Leigh syndrome caused by a novel NDUFA10 variant 170
VPS13C-associated Parkinson's disease : Two novel cases and review of the literature 170
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency 166
Soft cerebellar signs unveil RARS2‐related epilepsy 166
Clinical uses of Bupropion in patients with Parkinson’s disease and comorbid depressive or neuropsychiatric symptoms: a scoping review 166
Brain Calcifications: Genetic, Molecular, and Clinical Aspects 165
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study 164
X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene 154
Dystonic Tremor as Main Clinical Manifestation of SCA21 145
Are patients with GBA–Parkinson disease good candidates for deep brain stimulation? A longitudinal multicentric study on a large Italian cohort 136
Investigating the prevalence of MFN2 mutations in amyotrophic lateral sclerosis: insights from an Italian cohort 135
Adult‐Onset Dystonia‐Parkinsonism: Do Not Forget SERAC1 134
Complex genomic alterations and intellectual disability: an interpretative challenge 130
Speech, Gait, and Vestibular Function in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome 122
Genetic evaluation in phenotypically discordant monozygotic twins with Coats Disease 120
Screening of LRP10 mutations in Parkinson's disease patients from Italy 117
GBA-Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort 115
Genetic Evidence for Endolysosomal Dysfunction in Parkinson’s Disease: A Critical Overview 113
A case of 18p chromosomal deletion encompassing GNAL in a patient with dystonia-parkinsonism 111
Recent Advances in the Treatment of Genetic Forms of Parkinson’s Disease: Hype or Hope? 108
LONG-NEXT: A new accurate and efficient NGS-based method for GBA1 analysis in Parkinson disease 105
Childhood-onset focal epilepsy and acute para-infectious encephalopathy in a patient with biallelic QARS1 variants 102
Case report: Asp194Ala variant in MFN2 is associated with ALS-FTD in an Italian family 99
The unexpected finding of CNS autoantibodies in GBA1 mutation carriers with atypical parkinsonism 99
Genetics in Parkinson's disease, state-of-the-art and future perspectives 95
Tremulous spastic ataxia in a patient with a homozygous truncating SYNE1 variant 94
A Practical Approach to Early-Onset Parkinsonism 88
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum 86
Unraveling the role of GBA1 genotype in axial signs response to subthalamic deep brain stimulation 84
Childhood-onset dystonia with cerebellar signs: expanding the spectrum of GNAL mutations 83
RAB32 mutation in Parkinson's disease 82
Reply to: Comment on Soft cerebellar signs unveil RARS2-related epilepsy 80
Deconstructing speech alterations in episodic ataxia type 2: Perceptual-acoustic analysis in a case due to CACNA1A gene mutation 74
Levodopa responsive asymmetric parkinsonism as clinical presentation of progranulin gene mutation 73
Genetics of Movement Disorders and the Practicing Clinician; Who and What to Test for? 72
Reply to: No association between rare TWNK variants and Parkinson's disease in European cohorts 67
Reply to: Lack of Association between TWNK Rare Variants and Parkinson's Disease in a Chinese Cohort 66
Early-onset inherited dystonias versus late-onset idiopathic dystonias: Same or different biological mechanisms? 66
A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1 60
Juvenile dystonia-parkinsonism syndrome caused by a novel p.S941Tfs1X ATP13A2 (PARK9) mutation 57
HOPS-associated neurological disorders (HOPSANDs): Linking endolysosomal dysfunction to the pathogenesis of dystonia 53
Adult-onset KMT2B-related dystonia 50
Progressive myoclonus without epilepsy due to a NUS1 frameshift insertion: Dyssynergia cerebellaris myoclonica revisited 42
RAB3A variants in ataxia and other neurodegenerative disorders 40
Chorea-Acanthocytosis Presenting with Parkinsonism-Dystonia without Chorea 32
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Totale 11.769
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Categoria #
all - tutte 34.971
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 34.971
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202162 0 0 0 0 0 0 0 0 0 0 18 44
2021/2022539 35 53 44 37 38 47 32 29 61 54 36 73
2022/2023858 67 80 61 89 77 154 54 67 81 36 43 49
2023/20241.039 43 54 56 72 272 57 91 67 38 62 129 98
2024/20252.799 105 240 129 262 191 139 164 219 194 255 385 516
2025/20265.305 556 583 642 543 379 300 623 213 514 388 564 0
Totale 11.769