IRIS Institutional Research Information System - AIR Archivio Istituzionale della Ricerca

MONFRINI, EDOARDO
 Distribuzione geografica
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Continente #
EU - Europa 1.706
NA - Nord America 1.272
AS - Asia 885
OC - Oceania 33
SA - Sud America 26
AF - Africa 5
Continente sconosciuto - Info sul continente non disponibili 1
Totale 3.928
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Nazione #
US - Stati Uniti d'America 1.221
IT - Italia 553
GB - Regno Unito 335
CN - Cina 318
DE - Germania 236
SG - Singapore 181
SE - Svezia 145
IN - India 101
TR - Turchia 74
FR - Francia 64
HK - Hong Kong 64
IE - Irlanda 58
RU - Federazione Russa 57
CA - Canada 43
DK - Danimarca 35
JP - Giappone 35
ES - Italia 34
FI - Finlandia 33
ID - Indonesia 32
AU - Australia 29
KR - Corea 20
NL - Olanda 20
BE - Belgio 19
CH - Svizzera 18
RO - Romania 15
GR - Grecia 14
SA - Arabia Saudita 14
BR - Brasile 12
IR - Iran 12
HU - Ungheria 10
PT - Portogallo 10
AR - Argentina 9
IL - Israele 9
UA - Ucraina 9
VN - Vietnam 9
AT - Austria 7
MX - Messico 7
PL - Polonia 6
SK - Slovacchia (Repubblica Slovacca) 5
TW - Taiwan 5
CZ - Repubblica Ceca 4
NZ - Nuova Zelanda 4
TH - Thailandia 4
CL - Cile 3
HR - Croazia 3
RS - Serbia 3
SC - Seychelles 3
CY - Cipro 2
EE - Estonia 2
LU - Lussemburgo 2
NO - Norvegia 2
SI - Slovenia 2
UZ - Uzbekistan 2
BA - Bosnia-Erzegovina 1
BG - Bulgaria 1
BY - Bielorussia 1
CI - Costa d'Avorio 1
CO - Colombia 1
CU - Cuba 1
EU - Europa 1
IS - Islanda 1
KE - Kenya 1
KZ - Kazakistan 1
LI - Liechtenstein 1
LK - Sri Lanka 1
PH - Filippine 1
VE - Venezuela 1
Totale 3.928
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Città #
Southend 262
Milan 213
Chandler 181
Singapore 127
Frankfurt am Main 82
Fairfield 81
Istanbul 69
Wilmington 61
Redwood City 55
Dublin 53
Seattle 48
Ashburn 46
Ann Arbor 39
Houston 39
Princeton 38
Woodbridge 37
Beijing 35
New York 35
Bengaluru 30
Hong Kong 29
Santa Clara 28
Jakarta 26
Shanghai 25
Toronto 25
Cambridge 24
Helsinki 23
Boardman 22
Paris 21
Chicago 19
Guangzhou 18
Des Moines 17
Phoenix 17
Nanjing 16
Brussels 15
Jinan 15
Rome 15
Bologna 14
Riyadh 13
Melbourne 12
Chengdu 11
Grafing 11
Munich 11
Nanchang 11
Tokyo 11
Dearborn 10
Hebei 10
London 10
Tianjin 10
Tübingen 10
Berlin 9
Hanoi 9
Madrid 9
Seoul 9
Vienna 9
Amsterdam 8
Central 8
Changsha 8
Fremont 8
Mumbai 8
San Diego 8
Bhopal 7
Budapest 7
Catania 7
Hangzhou 7
Moscow 7
Padova 7
Sharon 7
Shenyang 7
Turin 7
Athens 6
Brescia 6
Lappeenranta 6
Nuremberg 6
Perth 6
Rho 6
São Paulo 6
Torino 6
Upper Marlboro 6
Atlanta 5
Bonn 5
Boston 5
Camden 5
Exeter 5
Gangnam-gu 5
Ivrea 5
Kent 5
Laguna Niguel 5
Occhiobello 5
Perugia 5
Philadelphia 5
Wanchai 5
Warsaw 5
Barcelona 4
Bordeaux 4
Buenos Aires 4
Cagliari 4
Cork 4
Jacksonville 4
Montreal 4
Pisa 4
Totale 2.342
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Nome #
A de novo C19orf12 heterozygous mutation in a patient with MPAN 442
Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy 299
Clinical reasoning: a 75-year-old man with parkinsonism, mood depression, and weight loss 284
SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy 256
Mutations in TMEM230 are rare in autosomal dominant Parkinson's disease 212
Expanding the genotypic and phenotypic spectrum of Beta-propeller-associated neurodegeneration (BPAN) 186
Systemic involvement in adult-onset leukoencephalopathy with intracranial calcifications and cysts (Labrune syndrome) with a novel mutation of the SNORD118 gene 182
A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation 174
A novel homozygous VPS11 variant may cause generalized dystonia 159
Mutational analysis of COQ2 in patients with MSA in Italy 150
A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism 130
Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency 130
Microscopic Polyangiitis With Selective Involvement of Central and Peripheral Nervous System : A Case Report 115
Unravelling Genetic Factors Underlying Corticobasal Syndrome: A Systematic Review 103
Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations 100
VPS13C-associated Parkinson's disease : Two novel cases and review of the literature 99
THE ROLE OF NEXT-GENERATION SEQUENCING IN THE DISCOVERY OF NOVEL GENETIC CAUSES OF DYSTONIA 92
X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene 79
Unleashing the potential of mRNA therapeutics for inherited neurological diseases 65
Cognitive and Autonomic Dysfunction in Multiple System Atrophy Type P and C: A Comparative Study 61
Dysautonomia in Parkinson's Disease: Impact of Glucocerebrosidase Gene Mutations on Cardiovascular Autonomic Control 60
Complex genomic alterations and intellectual disability: an interpretative challenge 53
Clinical uses of Bupropion in patients with Parkinson’s disease and comorbid depressive or neuropsychiatric symptoms: a scoping review 51
Juvenile-onset dystonia with spasticity in Leigh syndrome caused by a novel NDUFA10 variant 50
Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia 50
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study 42
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study 41
Childhood-onset dystonia with cerebellar signs: expanding the spectrum of GNAL mutations 37
GABRB1‐related early onset developmental and epileptic encephalopathy: Clinical trajectory and novel de novo mutation 36
Genetic evaluation in phenotypically discordant monozygotic twins with Coats Disease 35
Speech, Gait, and Vestibular Function in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome 28
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk 26
Are patients with GBA–Parkinson disease good candidates for deep brain stimulation? A longitudinal multicentric study on a large Italian cohort 24
Genetic Evidence for Endolysosomal Dysfunction in Parkinson’s Disease: A Critical Overview 24
A Practical Approach to Early-Onset Parkinsonism 21
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency 20
Brain Calcifications: Genetic, Molecular, and Clinical Aspects 19
Recent Advances in the Treatment of Genetic Forms of Parkinson’s Disease: Hype or Hope? 18
GBA-Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort 18
Genetics in Parkinson's disease, state-of-the-art and future perspectives 15
Screening of LRP10 mutations in Parkinson's disease patients from Italy 15
Tremulous spastic ataxia in a patient with a homozygous truncating SYNE1 variant 15
Genetics of Movement Disorders and the Practicing Clinician; Who and What to Test for? 12
A case of 18p chromosomal deletion encompassing GNAL in a patient with dystonia-parkinsonism 12
A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1 12
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum 12
Deconstructing speech alterations in episodic ataxia type 2: Perceptual-acoustic analysis in a case due to CACNA1A gene mutation 11
Reply to: Lack of Association between TWNK Rare Variants and Parkinson's Disease in a Chinese Cohort 11
Early-onset inherited dystonias versus late-onset idiopathic dystonias: Same or different biological mechanisms? 10
HOPS-associated neurological disorders (HOPSANDs): Linking endolysosomal dysfunction to the pathogenesis of dystonia 10
Case report: Asp194Ala variant in MFN2 is associated with ALS-FTD in an Italian family 9
Levodopa responsive asymmetric parkinsonism as clinical presentation of progranulin gene mutation 9
Chorea-Acanthocytosis Presenting with Parkinsonism-Dystonia without Chorea 7
Juvenile dystonia-parkinsonism syndrome caused by a novel p.S941Tfs1X ATP13A2 (PARK9) mutation 6
RAB32 mutation in Parkinson's disease 5
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Neuropsychiatric symptoms in idiopathic brain calcification 2
Reply to: No Association between Rare TWNK Variants and Parkinson's Disease in European Cohorts 1
Dystonic Tremor as Main Clinical Manifestation of SCA21 1
The unexpected finding of CNS autoantibodies in GBA1 mutation carriers with atypical parkinsonism 1
NUS1 and Epilepsy-myoclonus-ataxia Syndrome: An Under-recognized Entity? 1
Progressive myoclonus without epilepsy due to a NUS1 frameshift insertion: Dyssynergia cerebellaris myoclonica revisited 1
Adult-onset KMT2B-related dystonia 1
Totale 4.156
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Categoria #
all - tutte 17.341
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 17.341
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020319 0 0 0 51 23 27 36 25 64 45 17 31
2020/2021501 22 26 33 34 47 44 37 74 54 68 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
2023/20241.040 43 54 56 72 272 57 91 67 38 63 129 98
2024/2025490 105 240 129 16 0 0 0 0 0 0 0 0
Totale 4.156