IRIS UniCatt

Silvestri, Gabriella
 Distribuzione geografica
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Continente #
NA - Nord America 6.410
EU - Europa 5.054
AS - Asia 4.494
SA - Sud America 1.035
AF - Africa 130
OC - Oceania 12
Continente sconosciuto - Info sul continente non disponibili 9
Totale 17.144
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Nazione #
US - Stati Uniti d'America 6.181
SG - Singapore 2.299
DE - Germania 1.472
CN - Cina 1.083
SE - Svezia 946
BR - Brasile 868
IT - Italia 561
UA - Ucraina 343
PL - Polonia 306
FR - Francia 295
IE - Irlanda 273
GB - Regno Unito 268
VN - Vietnam 233
FI - Finlandia 209
IN - India 196
ID - Indonesia 189
RU - Federazione Russa 122
CA - Canada 121
TR - Turchia 86
AR - Argentina 80
BD - Bangladesh 59
MX - Messico 58
NL - Olanda 58
HK - Hong Kong 57
JP - Giappone 55
BE - Belgio 51
IQ - Iraq 39
ZA - Sudafrica 39
AT - Austria 32
ES - Italia 30
KR - Corea 27
MA - Marocco 23
EC - Ecuador 21
PK - Pakistan 21
IR - Iran 20
CI - Costa d'Avorio 16
UZ - Uzbekistan 16
KE - Kenya 15
VE - Venezuela 15
CO - Colombia 14
CH - Svizzera 13
BZ - Belize 12
LT - Lituania 12
NP - Nepal 11
RO - Romania 11
SA - Arabia Saudita 11
AE - Emirati Arabi Uniti 9
AU - Australia 9
CL - Cile 9
DO - Repubblica Dominicana 9
DZ - Algeria 9
IL - Israele 9
PS - Palestinian Territory 9
PY - Paraguay 9
JO - Giordania 8
KZ - Kazakistan 8
UY - Uruguay 8
CZ - Repubblica Ceca 7
EG - Egitto 7
EU - Europa 7
HN - Honduras 7
PT - Portogallo 7
SK - Slovacchia (Repubblica Slovacca) 7
TN - Tunisia 7
CR - Costa Rica 6
JM - Giamaica 6
OM - Oman 6
PE - Perù 6
PH - Filippine 5
TW - Taiwan 5
AM - Armenia 4
BG - Bulgaria 4
HU - Ungheria 4
AL - Albania 3
AZ - Azerbaigian 3
BO - Bolivia 3
DK - Danimarca 3
GE - Georgia 3
KG - Kirghizistan 3
KW - Kuwait 3
LK - Sri Lanka 3
SC - Seychelles 3
TH - Thailandia 3
TT - Trinidad e Tobago 3
BF - Burkina Faso 2
ET - Etiopia 2
GI - Gibilterra 2
GT - Guatemala 2
GY - Guiana 2
LA - Repubblica Popolare Democratica del Laos 2
LV - Lettonia 2
MD - Moldavia 2
MT - Malta 2
NZ - Nuova Zelanda 2
RS - Serbia 2
SI - Slovenia 2
TM - Turkmenistan 2
A2 - ???statistics.table.value.countryCode.A2??? 1
BB - Barbados 1
BN - Brunei Darussalam 1
Totale 17.120
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Città #
Singapore 1.039
Chandler 945
Ashburn 602
Warsaw 281
Dublin 267
Jacksonville 254
Beijing 248
San Mateo 244
Dallas 231
Ann Arbor 219
Wilmington 185
Jakarta 177
Munich 174
New York 161
Houston 145
Boston 132
Nanjing 127
Woodbridge 127
Fairfield 120
Los Angeles 108
Rome 103
Hefei 101
Princeton 100
Helsinki 89
Redwood City 80
Dearborn 78
Ho Chi Minh City 75
São Paulo 75
Seattle 73
Nürnberg 71
Frankfurt am Main 69
Moscow 67
Chicago 64
Milan 62
Cattolica 59
Buffalo 57
Lawrence 53
Hanoi 52
Izmir 51
London 49
Marseille 46
Redmond 45
San Jose 44
Nanchang 43
Ottawa 43
Hong Kong 41
Brussels 39
Norwalk 36
Nuremberg 36
Brooklyn 35
The Dalles 35
Tokyo 32
Santa Clara 31
Bremen 30
Cambridge 29
Kent 29
Turku 29
Boardman 27
Hangzhou 27
Hebei 27
Lancaster 26
Seoul 26
Belo Horizonte 25
Mountain View 25
Paris 25
Phoenix 25
Detroit 24
Johannesburg 24
Shenyang 24
Stockholm 23
Tianjin 23
Brasília 22
Montreal 22
University Park 22
Lappeenranta 21
Rio de Janeiro 21
Düsseldorf 19
Pune 19
Toronto 19
Baghdad 18
Chennai 18
Las Vegas 18
Zhengzhou 18
Denver 17
Jiaxing 17
San Diego 17
Abidjan 16
Kunming 16
Vienna 16
Falls Church 15
Shanghai 15
Dhaka 14
Kansas City 14
Orem 14
San Francisco 14
Changsha 13
Manchester 13
Mumbai 13
Nairobi 13
Tashkent 13
Totale 8.675
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Nome #
Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions 397
Prefrontal cortex as a compensatory network in ataxic gait: a correlation study between cortical activity and gait parameters 299
A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia 240
Alternative splicing alterations of Ca(2+) handling genes are associated with Ca(2+) signal dysregulation in DM1 and DM2 myotubes 225
Hospital admissions from the emergency department of adult patients affected by myopathies 217
Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study 216
Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study 190
Prevalence and clinical correlates of sleep disordered breathing in myotonic dystrophy types 1 and 2. 189
Analysis of ryanodine receptor 1 (RyR1) and voltage-gated Ca2+ channel (VGCC) alpha1S subunit (Cav1.1) pre-mRNA splicing and correlation with intracellular calcium signals in myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2) myotubes. 180
Successful treatment of acute autoimmune limbic encephalitis with negative VGKC and NMDAR antibodies: a case report 171
Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutaton causing a double patogenetic effect 169
Muscle imaging findings in GNE myopathy 167
Alternative splicing alterations of Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes. 156
Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort 156
Abnormal Cortical Thickness Is Associated With Deficits in Social Cognition in Patients With Myotonic Dystrophy Type 1 153
Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies 150
Alternative splicing of human insulin receptor gene (INSR) in type I and type II skeletal muscle fibers of patients with myotonic dystrophy type 1 and type 2 148
Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1) 147
An Italian Neurology Outpatient Clinic Facing SARS-CoV-2 Pandemic: Data From 2,167 Patients 145
Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa responsive parkinsonism 144
A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy. 144
Prevalence of spinocellulart ataxia type 2 mutation among ittalian Parkinsonian patients 140
Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: A clinical and muscle MRI study 140
Cerebello-Cortical Alterations Linked to Cognitive and Social Problems in Patients With Spastic Paraplegia Type 7: A Preliminary Study 140
Muscle MRI in female carriers of dystrophinopathy 139
Cognitive impairment in myotonic dystrophy type 1 (DM1) : A longitudinal follow-up study 138
A Clinical and Epidemiological Prevalence Study on Friedreich's Ataxia in Latium, Italy 136
Reader response: High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2 136
Erratum to: Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors (J Nerol, 10.1007/s00415-015-8006-y) 135
High Prevalence and Gender-Related Differences of Gastrointestinal Manifestations in a Cohort of DM1 Patients: A Perspective, Cross-Sectional Study 135
Successful treatment of acute autoimmune limbic encephalitis with negative VGKC and NMDAR antibodies: a case report 134
An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy. 134
Response to "Autosomal recessive axonal neuropathy caused by HINT1 mutation: New association of a psychiatric disorder to the neurological phenotype" 134
Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials 134
Elevated serum Neurofilament Light chain (NfL) as a potential biomarker of neurological involvement in Myotonic Dystrophy type 1 (DM1) 131
Clinical characteristics of metabolic associated fatty liver disease (MAFLD) in subjects with myotonic dystrophy type 1 (DM1) 129
Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience 126
Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56 123
New phenotype and pathology features in MYH7-related distal myopathy 122
Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: a cross-sectional study 122
Prefrontal cortex controls human balance during overground ataxic gait 121
Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita 119
Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors 119
Clinical use of bioelectrical impedance analysis in patients affected by myotonic dystrophy type 1: A cross-sectional study. 119
Teaching NeuroImages: Autosomal dominant leukodystrophy in a sporadic case. 118
Resveratrol corrects aberrant splicing of RYR1 pre-mRNA and Ca2+ signal in myotonic dystrophy type 1 myotubes 118
Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion 117
A novel mutation in the SACS gene associated with a complicated form of spastic ataxia. 117
MRI neurography findings in patients with idiopathic brachial plexopathy: correlations with clinical-neurophysiological data in eight consecutive cases 116
Nuclear Factor Erythroid 2-Related Factor 2 Activation Might Mitigate Clinical Symptoms in Friedreich’s Ataxia: Clues of an “Out-Brain Origin” of the Disease From a Family Study 116
Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS 115
Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2). 114
Clinical features and outcome of patients with autoimmune cerebellar ataxia evaluated with the Scale for the Assessment and Rating of Ataxia 114
fNIRS evaluation during a phonemic verbal task reveals prefrontal hypometabolism in patients affected by myotonic dystrophy type 1 113
DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7 113
An Italian Neurology Outpatient Clinic Facing SARS-CoV-2 Pandemic: Data From 2,167 Patients 112
Caregivers’ and Physicians’ Perspectives on Alpha-Mannosidosis: A Report from Italy 110
Abnormal Functional Brain Connectivity and Personality Traits in Myotonic Dystrophy Type 1 109
Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials 109
SIADH in a patient with sensory ataxic neuropathy with anti-disialosyl antibodies (CANOMAD) 108
Central Nervous System involvement in Myotonic Dystrophies 108
Severe 5,10-methylenetetrahydrofolate reductase deficiency: A rare, treatable cause of complicated hereditary spastic paraplegia 106
Spectral domain optical coherence tomography findings in myotonic dystrophy 106
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 106
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. 105
fNIRS evaluation during a phonemic verbal task reveals prefrontal hypometabolism in patients affected by myotonic dystrophy type 1 105
An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene 104
Serial neuroimaging findings in a novel case of sporadic progressive ataxia and palatal tremor (PAPT) 104
Imaging Features of Varicella Zoster Virus Cranial Multiple Mononeuropathies 104
Unusual case of long survival patient with leptomeningeal carcinomatosis from breast cancer 104
Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2 103
Clinical Reasoning: A Young Man With Subacute Onset of Spastic Paraparesis 102
Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis 102
Remitting-Relapsing Carbamazepine Overdosage Mimicking Vertebrobasilar Transient Ischemic Attacks 100
Prefrontal cortex as a compensatory network in ataxic gait: a correlation study between cortical activity and gait parameters 100
The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families 100
Translational control of polyamine metabolism by cnbp is required for drosophila locomotor function 100
Positive outcome in a patient with Wilson's disease treated with reduced zinc dosage in pregnancy 99
A novel nonsense EIF1AX mutation identified in a thyroid nodule histologically diagnosed as oncocytic carcinoma 99
A unique case of multiphasic ADEM or what else? 99
A man with sarcoidosis and slurred speech 97
A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21 97
Author response. 96
Brain Connectomics' Modification to Clarify Motor and Nonmotor Features of Myotonic Dystrophy Type 1 94
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network 94
MRI neurography findings in patients with idiopathic brachial plexopathy: correlations with clinical-neurophysiological data in eight consecutive cases 93
DJ-1 modulates mitochondrial response to oxidative stress: Clues from a novel diagnosis of PARK7 92
Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia. 91
Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia 91
Editorial: Myotonic Dystrophies: Developments in Research From Bench to Bedside 91
Prefrontal cortex controls human balance during overground ataxic gait 90
Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2. 90
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients 90
Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia 88
Ngs in hereditary ataxia: When rare becomes frequent 88
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in the Time of Next-Generation Sequencing 87
Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors 87
Clarification on Uveal Melanoma Associated With Myotonic Dystrophy 86
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 86
Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene 85
Totale 12.697
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Categoria #
all - tutte 80.290
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 80.290
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021808 0 0 0 0 0 63 231 41 173 68 173 59
2021/20221.495 96 110 36 171 66 105 51 244 84 79 202 251
2022/20232.748 330 356 227 369 173 385 88 235 374 50 94 67
2023/20241.382 64 395 43 88 28 164 93 51 33 57 196 170
2024/20253.080 57 100 277 84 229 132 140 156 462 249 612 582
2025/20264.236 1.185 185 644 859 1.232 131 0 0 0 0 0 0
Totale 17.412