IRIS UniCatt

Silvestri, Gabriella
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 8.839
AS - Asia 5.914
EU - Europa 5.716
SA - Sud America 1.175
Continente sconosciuto - Info sul continente non disponibili 361
AF - Africa 165
OC - Oceania 23
Totale 22.193
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 8.511
SG - Singapore 2.804
DE - Germania 1.509
CN - Cina 1.196
SE - Svezia 947
BR - Brasile 942
IT - Italia 840
VN - Vietnam 598
FR - Francia 499
UA - Ucraina 346
PL - Polonia 316
GB - Regno Unito 304
IE - Irlanda 274
FI - Finlandia 233
IN - India 227
BD - Bangladesh 200
ID - Indonesia 195
CA - Canada 171
JP - Giappone 161
RU - Federazione Russa 127
HK - Hong Kong 115
AR - Argentina 105
TR - Turchia 96
NL - Olanda 79
MX - Messico 77
IQ - Iraq 60
BE - Belgio 53
ZA - Sudafrica 49
ES - Italia 39
PK - Pakistan 34
AT - Austria 32
EC - Ecuador 30
KR - Corea 27
MA - Marocco 27
CO - Colombia 25
IR - Iran 21
AU - Australia 20
KE - Kenya 20
UZ - Uzbekistan 20
VE - Venezuela 20
SA - Arabia Saudita 19
CH - Svizzera 16
CI - Costa d'Avorio 16
CL - Cile 14
JM - Giamaica 14
LT - Lituania 14
NP - Nepal 14
RO - Romania 14
HN - Honduras 13
PY - Paraguay 13
BZ - Belize 12
CR - Costa Rica 12
DZ - Algeria 12
IL - Israele 12
JO - Giordania 12
KZ - Kazakistan 12
PS - Palestinian Territory 12
DO - Repubblica Dominicana 10
UY - Uruguay 10
AE - Emirati Arabi Uniti 9
TN - Tunisia 9
CZ - Repubblica Ceca 8
EG - Egitto 8
PE - Perù 8
PH - Filippine 8
PT - Portogallo 8
TH - Thailandia 8
EU - Europa 7
LV - Lettonia 7
SK - Slovacchia (Repubblica Slovacca) 7
AL - Albania 6
OM - Oman 6
BG - Bulgaria 5
BO - Bolivia 5
GT - Guatemala 5
HU - Ungheria 5
KW - Kuwait 5
MD - Moldavia 5
MY - Malesia 5
TW - Taiwan 5
AM - Armenia 4
AZ - Azerbaigian 4
ET - Etiopia 4
GE - Georgia 4
LK - Sri Lanka 4
RS - Serbia 4
SI - Slovenia 4
BF - Burkina Faso 3
DK - Danimarca 3
GY - Guiana 3
KG - Kirghizistan 3
NG - Nigeria 3
NI - Nicaragua 3
PA - Panama 3
SC - Seychelles 3
SN - Senegal 3
TT - Trinidad e Tobago 3
AO - Angola 2
GA - Gabon 2
GI - Gibilterra 2
Totale 21.803
Salva come PNG Salva come JPEG
Città #
Singapore 1.493
Chandler 948
Ashburn 875
San Jose 801
Warsaw 288
Dublin 268
Beijing 266
Jacksonville 257
Dallas 247
San Mateo 244
Ann Arbor 221
New York 202
Ho Chi Minh City 190
Wilmington 187
Jakarta 180
Lauterbourg 175
Munich 174
Rome 157
Houston 151
Hanoi 148
Los Angeles 144
Tokyo 136
Boston 135
Council Bluffs 134
Nanjing 128
Woodbridge 127
Fairfield 120
Helsinki 105
Hefei 101
Princeton 100
Frankfurt am Main 96
Milan 92
Hong Kong 88
Dearborn 80
Redwood City 80
Chicago 79
Seattle 79
São Paulo 79
Santa Clara 75
Buffalo 71
Nürnberg 71
The Dalles 70
Moscow 67
Cattolica 59
Lawrence 53
London 53
Izmir 52
Marseille 49
Paris 49
Redmond 45
Ottawa 44
Nanchang 43
Brooklyn 41
Boardman 40
Brussels 39
Nuremberg 39
Norwalk 36
Da Nang 35
Montreal 34
Orem 34
Phoenix 31
Atlanta 30
Bremen 30
Chennai 30
Turku 30
Cambridge 29
Johannesburg 29
Kent 29
Hangzhou 28
Lappeenranta 28
Hebei 27
Baghdad 26
Belo Horizonte 26
Lancaster 26
Seoul 26
St Louis 26
Toronto 26
Brasília 25
Detroit 25
Mountain View 25
Shenyang 25
Rio de Janeiro 24
Stockholm 24
Tianjin 23
Denver 22
Las Vegas 22
Shanghai 22
University Park 22
Galveston 21
San Diego 20
Düsseldorf 19
Haiphong 19
Pune 19
Biên Hòa 18
Nairobi 18
Zhengzhou 18
Amsterdam 17
Bologna 17
Dhaka 17
Jiaxing 17
Totale 11.430
Salva come PNG Salva come JPEG
Nome #
Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions 470
Prefrontal cortex as a compensatory network in ataxic gait: a correlation study between cortical activity and gait parameters 313
Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience 289
Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study 279
Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort 276
A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia 265
Hospital admissions from the emergency department of adult patients affected by myopathies 260
Alternative splicing alterations of Ca(2+) handling genes are associated with Ca(2+) signal dysregulation in DM1 and DM2 myotubes 245
Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study 230
Prevalence and clinical correlates of sleep disordered breathing in myotonic dystrophy types 1 and 2. 208
Alternative splicing alterations of Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes. 201
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. 196
Successful treatment of acute autoimmune limbic encephalitis with negative VGKC and NMDAR antibodies: a case report 195
Muscle imaging findings in GNE myopathy 192
Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutaton causing a double patogenetic effect 188
Abnormal Cortical Thickness Is Associated With Deficits in Social Cognition in Patients With Myotonic Dystrophy Type 1 182
An Italian Neurology Outpatient Clinic Facing SARS-CoV-2 Pandemic: Data From 2,167 Patients 181
High Prevalence and Gender-Related Differences of Gastrointestinal Manifestations in a Cohort of DM1 Patients: A Perspective, Cross-Sectional Study 180
Elevated serum Neurofilament Light chain (NfL) as a potential biomarker of neurological involvement in Myotonic Dystrophy type 1 (DM1) 178
Reader response: High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2 176
A Clinical and Epidemiological Prevalence Study on Friedreich's Ataxia in Latium, Italy 174
Clinical characteristics of metabolic associated fatty liver disease (MAFLD) in subjects with myotonic dystrophy type 1 (DM1) 174
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 2 173
Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials 171
Prevalence of spinocellulart ataxia type 2 mutation among ittalian Parkinsonian patients 169
Cerebello-Cortical Alterations Linked to Cognitive and Social Problems in Patients With Spastic Paraplegia Type 7: A Preliminary Study 169
Muscle MRI in female carriers of dystrophinopathy 168
Prevalence and Clinical Correlates of Cerebrovascular Alterations in Fabry Disease: A Cross-Sectional Study 167
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) 166
Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: A clinical and muscle MRI study 165
A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy. 160
Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies 159
Resveratrol corrects aberrant splicing of RYR1 pre-mRNA and Ca2+ signal in myotonic dystrophy type 1 myotubes 159
Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa responsive parkinsonism 158
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) 157
An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy. 157
New phenotype and pathology features in MYH7-related distal myopathy 154
Cognitive impairment in myotonic dystrophy type 1 (DM1) : A longitudinal follow-up study 152
MRI neurography findings in patients with idiopathic brachial plexopathy: correlations with clinical-neurophysiological data in eight consecutive cases 152
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 152
Successful treatment of acute autoimmune limbic encephalitis with negative VGKC and NMDAR antibodies: a case report 149
Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56 149
Response to "Autosomal recessive axonal neuropathy caused by HINT1 mutation: New association of a psychiatric disorder to the neurological phenotype" 148
An Italian Neurology Outpatient Clinic Facing SARS-CoV-2 Pandemic: Data From 2,167 Patients 147
Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS 147
Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion 145
Differential Gene Expression in Late-Onset Friedreich Ataxia: A Comparative Transcriptomic Analysis Between Symptomatic and Asymptomatic Sisters 144
Abnormal Functional Brain Connectivity and Personality Traits in Myotonic Dystrophy Type 1 144
Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials 143
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort 142
Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors 140
DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7 138
Caregivers’ and Physicians’ Perspectives on Alpha-Mannosidosis: A Report from Italy 138
Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: a cross-sectional study 136
A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21 135
Translational control of polyamine metabolism by cnbp is required for drosophila locomotor function 135
Clinical use of bioelectrical impedance analysis in patients affected by myotonic dystrophy type 1: A cross-sectional study. 134
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 134
Clinical features and outcome of patients with autoimmune cerebellar ataxia evaluated with the Scale for the Assessment and Rating of Ataxia 134
Prefrontal cortex controls human balance during overground ataxic gait 133
Unusual case of long survival patient with leptomeningeal carcinomatosis from breast cancer 133
Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita 132
SIADH in a patient with sensory ataxic neuropathy with anti-disialosyl antibodies (CANOMAD) 132
Brain Connectomics' Modification to Clarify Motor and Nonmotor Features of Myotonic Dystrophy Type 1 132
Clinical Reasoning: A Young Man With Subacute Onset of Spastic Paraparesis 131
A novel mutation in the SACS gene associated with a complicated form of spastic ataxia. 131
Severe 5,10-methylenetetrahydrofolate reductase deficiency: A rare, treatable cause of complicated hereditary spastic paraplegia 131
Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors 130
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). 129
Teaching NeuroImages: Autosomal dominant leukodystrophy in a sporadic case. 129
fNIRS evaluation during a phonemic verbal task reveals prefrontal hypometabolism in patients affected by myotonic dystrophy type 1 127
Central Nervous System involvement in Myotonic Dystrophies 127
Spectral domain optical coherence tomography findings in myotonic dystrophy 126
fNIRS evaluation during a phonemic verbal task reveals prefrontal hypometabolism in patients affected by myotonic dystrophy type 1 123
Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2 123
Neurological Erdheim-Chester Disease Manifesting with Subacute or Progressive Cerebellar Ataxia: Novel Case Series and Review of the Literature 122
Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis 122
Positive outcome in a patient with Wilson's disease treated with reduced zinc dosage in pregnancy 120
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. 120
An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene 119
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 119
A novel nonsense EIF1AX mutation identified in a thyroid nodule histologically diagnosed as oncocytic carcinoma 118
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network 118
The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort 117
Author response. 117
Prefrontal cortex as a compensatory network in ataxic gait: a correlation study between cortical activity and gait parameters 117
Serial neuroimaging findings in a novel case of sporadic progressive ataxia and palatal tremor (PAPT) 117
The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families 116
A man with sarcoidosis and slurred speech 116
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 116
Prefrontal cortex controls human balance during overground ataxic gait 115
Imaging Features of Varicella Zoster Virus Cranial Multiple Mononeuropathies 115
A unique case of multiphasic ADEM or what else? 115
Editorial: Myotonic Dystrophies: Developments in Research From Bench to Bedside 114
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients 114
Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene 110
Remitting-Relapsing Carbamazepine Overdosage Mimicking Vertebrobasilar Transient Ischemic Attacks 110
Ngs in hereditary ataxia: When rare becomes frequent 110
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability 110
Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature 109
Totale 15.607
Salva come PNG Salva come JPEG
Categoria #
all - tutte 97.467
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 97.467
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.399 0 110 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
2025/20268.353 1.185 185 644 859 1.232 444 1.493 464 549 629 347 322
2026/2027664 374 290 0 0 0 0 0 0 0 0 0 0
Totale 22.193