IRIS UniCatt

Silvestri, Gabriella
 Distribuzione geografica
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Continente #
NA - Nord America 8.202
AS - Asia 5.821
EU - Europa 5.591
SA - Sud America 1.140
AF - Africa 165
OC - Oceania 22
Continente sconosciuto - Info sul continente non disponibili 9
Totale 20.950
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Nazione #
US - Stati Uniti d'America 7.909
SG - Singapore 2.795
DE - Germania 1.509
CN - Cina 1.190
SE - Svezia 946
BR - Brasile 926
IT - Italia 747
VN - Vietnam 598
FR - Francia 494
UA - Ucraina 346
PL - Polonia 310
GB - Regno Unito 297
IE - Irlanda 273
FI - Finlandia 233
IN - India 227
ID - Indonesia 195
JP - Giappone 159
CA - Canada 155
BD - Bangladesh 127
RU - Federazione Russa 127
HK - Hong Kong 113
AR - Argentina 101
TR - Turchia 96
NL - Olanda 77
MX - Messico 74
IQ - Iraq 60
BE - Belgio 51
ZA - Sudafrica 49
ES - Italia 36
PK - Pakistan 34
AT - Austria 32
KR - Corea 27
MA - Marocco 27
EC - Ecuador 26
CO - Colombia 21
IR - Iran 21
KE - Kenya 20
UZ - Uzbekistan 20
AU - Australia 19
SA - Arabia Saudita 19
VE - Venezuela 18
CH - Svizzera 16
CI - Costa d'Avorio 16
NP - Nepal 14
LT - Lituania 13
RO - Romania 13
BZ - Belize 12
CL - Cile 12
DZ - Algeria 12
HN - Honduras 12
IL - Israele 12
JO - Giordania 12
KZ - Kazakistan 12
PS - Palestinian Territory 12
PY - Paraguay 11
DO - Repubblica Dominicana 10
UY - Uruguay 10
AE - Emirati Arabi Uniti 9
JM - Giamaica 9
TN - Tunisia 9
CR - Costa Rica 8
CZ - Repubblica Ceca 8
EG - Egitto 8
PH - Filippine 8
EU - Europa 7
LV - Lettonia 7
PE - Perù 7
PT - Portogallo 7
SK - Slovacchia (Repubblica Slovacca) 7
TH - Thailandia 7
OM - Oman 6
AL - Albania 5
BG - Bulgaria 5
BO - Bolivia 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
PA - Panama 3
SC - Seychelles 3
SN - Senegal 3
TT - Trinidad e Tobago 3
AO - Angola 2
GA - Gabon 2
GI - Gibilterra 2
GT - Guatemala 2
LA - Repubblica Popolare Democratica del Laos 2
Totale 20.915
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Città #
Singapore 1.485
Chandler 945
Ashburn 795
San Jose 794
Warsaw 285
Dublin 268
Beijing 263
Jacksonville 254
San Mateo 244
Dallas 233
Ann Arbor 221
New York 193
Ho Chi Minh City 190
Wilmington 185
Jakarta 180
Lauterbourg 175
Munich 174
Hanoi 148
Houston 148
Rome 147
Tokyo 135
Boston 133
Council Bluffs 133
Los Angeles 131
Nanjing 128
Woodbridge 127
Fairfield 120
Helsinki 105
Hefei 101
Princeton 100
Frankfurt am Main 96
Hong Kong 86
Milan 84
Dearborn 80
Redwood City 80
São Paulo 78
Chicago 77
Seattle 75
Nürnberg 71
The Dalles 70
Moscow 67
Santa Clara 62
Buffalo 61
Cattolica 59
Lawrence 53
Izmir 52
London 52
Marseille 49
Paris 49
Redmond 45
Ottawa 44
Nanchang 43
Boardman 40
Brussels 39
Nuremberg 39
Brooklyn 37
Norwalk 36
Da Nang 35
Montreal 32
Orem 31
Bremen 30
Chennai 30
Turku 30
Cambridge 29
Johannesburg 29
Kent 29
Hangzhou 28
Lappeenranta 28
Hebei 27
Phoenix 27
Baghdad 26
Belo Horizonte 26
Lancaster 26
Seoul 26
St Louis 26
Mountain View 25
Shenyang 25
Brasília 24
Detroit 24
Toronto 24
Rio de Janeiro 23
Stockholm 23
Tianjin 23
Shanghai 22
University Park 22
Denver 21
Galveston 21
Atlanta 19
Düsseldorf 19
Haiphong 19
Pune 19
Biên Hòa 18
Las Vegas 18
Nairobi 18
Zhengzhou 18
Amsterdam 17
Jiaxing 17
San Diego 17
Tukwila 17
Abidjan 16
Totale 11.188
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Nome #
Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions 458
Prefrontal cortex as a compensatory network in ataxic gait: a correlation study between cortical activity and gait parameters 311
Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study 276
A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia 261
Hospital admissions from the emergency department of adult patients affected by myopathies 259
Alternative splicing alterations of Ca(2+) handling genes are associated with Ca(2+) signal dysregulation in DM1 and DM2 myotubes 243
Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study 228
Prevalence and clinical correlates of sleep disordered breathing in myotonic dystrophy types 1 and 2. 206
Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort 203
Alternative splicing alterations of Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes. 198
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. 195
Successful treatment of acute autoimmune limbic encephalitis with negative VGKC and NMDAR antibodies: a case report 194
Muscle imaging findings in GNE myopathy 190
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 1 177
High Prevalence and Gender-Related Differences of Gastrointestinal Manifestations in a Cohort of DM1 Patients: A Perspective, Cross-Sectional Study 176
Elevated serum Neurofilament Light chain (NfL) as a potential biomarker of neurological involvement in Myotonic Dystrophy type 1 (DM1) 174
An Italian Neurology Outpatient Clinic Facing SARS-CoV-2 Pandemic: Data From 2,167 Patients 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 2 170
A Clinical and Epidemiological Prevalence Study on Friedreich's Ataxia in Latium, Italy 167
Cerebello-Cortical Alterations Linked to Cognitive and Social Problems in Patients With Spastic Paraplegia Type 7: A Preliminary Study 167
Clinical characteristics of metabolic associated fatty liver disease (MAFLD) in subjects with myotonic dystrophy type 1 (DM1) 167
Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience 167
Prevalence of spinocellulart ataxia type 2 mutation among ittalian Parkinsonian patients 165
Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials 165
Muscle MRI in female carriers of dystrophinopathy 164
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) 164
Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: A clinical and muscle MRI study 161
Reader response: High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2 160
Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies 159
A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy. 158
Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa responsive parkinsonism 157
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) 156
An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy. 155
Resveratrol corrects aberrant splicing of RYR1 pre-mRNA and Ca2+ signal in myotonic dystrophy type 1 myotubes 154
Cognitive impairment in myotonic dystrophy type 1 (DM1) : A longitudinal follow-up study 151
MRI neurography findings in patients with idiopathic brachial plexopathy: correlations with clinical-neurophysiological data in eight consecutive cases 150
Successful treatment of acute autoimmune limbic encephalitis with negative VGKC and NMDAR antibodies: a case report 148
Response to "Autosomal recessive axonal neuropathy caused by HINT1 mutation: New association of a psychiatric disorder to the neurological phenotype" 147
Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56 146
Prevalence and Clinical Correlates of Cerebrovascular Alterations in Fabry Disease: A Cross-Sectional Study 144
Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS 144
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 144
An Italian Neurology Outpatient Clinic Facing SARS-CoV-2 Pandemic: Data From 2,167 Patients 142
New phenotype and pathology features in MYH7-related distal myopathy 141
Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors 138
Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion 137
Caregivers’ and Physicians’ Perspectives on Alpha-Mannosidosis: A Report from Italy 137
Abnormal Functional Brain Connectivity and Personality Traits in Myotonic Dystrophy Type 1 136
Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials 136
Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: a cross-sectional study 134
DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7 134
Prefrontal cortex controls human balance during overground ataxic gait 133
Clinical use of bioelectrical impedance analysis in patients affected by myotonic dystrophy type 1: A cross-sectional study. 133
Clinical Reasoning: A Young Man With Subacute Onset of Spastic Paraparesis 131
Unusual case of long survival patient with leptomeningeal carcinomatosis from breast cancer 131
Clinical features and outcome of patients with autoimmune cerebellar ataxia evaluated with the Scale for the Assessment and Rating of Ataxia 131
Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita 130
Severe 5,10-methylenetetrahydrofolate reductase deficiency: A rare, treatable cause of complicated hereditary spastic paraplegia 130
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 130
A novel mutation in the SACS gene associated with a complicated form of spastic ataxia. 129
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
Brain Connectomics' Modification to Clarify Motor and Nonmotor Features of Myotonic Dystrophy Type 1 129
Translational control of polyamine metabolism by cnbp is required for drosophila locomotor function 129
SIADH in a patient with sensory ataxic neuropathy with anti-disialosyl antibodies (CANOMAD) 127
Central Nervous System involvement in Myotonic Dystrophies 127
Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors 127
fNIRS evaluation during a phonemic verbal task reveals prefrontal hypometabolism in patients affected by myotonic dystrophy type 1 126
Teaching NeuroImages: Autosomal dominant leukodystrophy in a sporadic case. 126
A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21 123
Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis 122
Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2 122
fNIRS evaluation during a phonemic verbal task reveals prefrontal hypometabolism in patients affected by myotonic dystrophy type 1 120
Spectral domain optical coherence tomography findings in myotonic dystrophy 120
Positive outcome in a patient with Wilson's disease treated with reduced zinc dosage in pregnancy 119
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort 118
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. 118
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network 117
An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene 116
Author response. 116
Prefrontal cortex as a compensatory network in ataxic gait: a correlation study between cortical activity and gait parameters 116
A novel nonsense EIF1AX mutation identified in a thyroid nodule histologically diagnosed as oncocytic carcinoma 116
A man with sarcoidosis and slurred speech 116
Neurological Erdheim-Chester Disease Manifesting with Subacute or Progressive Cerebellar Ataxia: Novel Case Series and Review of the Literature 115
The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families 115
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 115
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 115
Imaging Features of Varicella Zoster Virus Cranial Multiple Mononeuropathies 114
A unique case of multiphasic ADEM or what else? 114
Serial neuroimaging findings in a novel case of sporadic progressive ataxia and palatal tremor (PAPT) 113
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients 111
Prefrontal cortex controls human balance during overground ataxic gait 110
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability 110
Ngs in hereditary ataxia: When rare becomes frequent 109
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease 107
Remitting-Relapsing Carbamazepine Overdosage Mimicking Vertebrobasilar Transient Ischemic Attacks 107
Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2. 107
Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice 106
Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene 106
DJ-1 modulates mitochondrial response to oxidative stress: Clues from a novel diagnosis of PARK7 106
Totale 15.013
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Categoria #
all - tutte 92.160
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 92.160
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202159 0 0 0 0 0 0 0 0 0 0 0 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
2025/20268.125 1.185 185 644 859 1.232 444 1.493 464 549 629 347 94
Totale 21.301