IRIS UniCatt

Silvestri, Gabriella
 Distribuzione geografica
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Continente #
NA - Nord America 7.797
AS - Asia 5.750
EU - Europa 5.479
SA - Sud America 1.140
AF - Africa 165
OC - Oceania 22
Continente sconosciuto - Info sul continente non disponibili 9
Totale 20.362
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Nazione #
US - Stati Uniti d'America 7.525
SG - Singapore 2.788
DE - Germania 1.507
CN - Cina 1.184
SE - Svezia 946
BR - Brasile 926
IT - Italia 652
VN - Vietnam 598
FR - Francia 494
UA - Ucraina 346
PL - Polonia 310
GB - Regno Unito 293
IE - Irlanda 273
FI - Finlandia 233
IN - India 226
ID - Indonesia 195
JP - Giappone 159
CA - Canada 140
RU - Federazione Russa 126
HK - Hong Kong 109
AR - Argentina 101
TR - Turchia 96
BD - Bangladesh 76
NL - Olanda 75
MX - Messico 73
IQ - Iraq 60
BE - Belgio 51
ZA - Sudafrica 49
ES - Italia 34
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 18
VE - Venezuela 18
CI - Costa d'Avorio 16
CH - Svizzera 15
NP - Nepal 14
LT - Lituania 13
RO - Romania 13
BZ - Belize 12
CL - Cile 12
DZ - Algeria 12
IL - Israele 12
JO - Giordania 12
KZ - Kazakistan 12
PS - Palestinian Territory 12
PY - Paraguay 11
DO - Repubblica Dominicana 10
HN - Honduras 10
UY - Uruguay 10
AE - Emirati Arabi Uniti 9
TN - Tunisia 9
CZ - Repubblica Ceca 8
EG - Egitto 8
JM - Giamaica 8
CR - Costa Rica 7
EU - Europa 7
PE - Perù 7
PH - Filippine 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
MY - Malesia 5
TW - Taiwan 5
AM - Armenia 4
AZ - Azerbaigian 4
ET - Etiopia 4
GE - Georgia 4
LK - Sri Lanka 4
LV - Lettonia 4
RS - Serbia 4
SI - Slovenia 4
BF - Burkina Faso 3
DK - Danimarca 3
GY - Guiana 3
KG - Kirghizistan 3
MD - Moldavia 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 20.328
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Città #
Singapore 1.482
Chandler 945
Ashburn 766
San Jose 698
Warsaw 285
Dublin 268
Beijing 258
Jacksonville 254
San Mateo 244
Dallas 232
Ann Arbor 220
Ho Chi Minh City 190
Wilmington 185
Jakarta 180
New York 177
Lauterbourg 175
Munich 174
Hanoi 148
Houston 147
Tokyo 135
Boston 133
Council Bluffs 131
Nanjing 128
Woodbridge 127
Los Angeles 126
Rome 123
Fairfield 120
Helsinki 105
Hefei 101
Princeton 100
Frankfurt am Main 96
Hong Kong 82
Redwood City 80
Dearborn 78
São Paulo 78
Milan 76
Seattle 74
Chicago 73
Nürnberg 71
The Dalles 70
Moscow 67
Buffalo 59
Cattolica 59
Lawrence 53
Santa Clara 53
Izmir 52
London 52
Marseille 49
Paris 48
Redmond 45
Ottawa 44
Nanchang 43
Brussels 39
Nuremberg 39
Norwalk 36
Brooklyn 35
Da Nang 35
Montreal 31
Orem 31
Bremen 30
Chennai 30
Turku 30
Cambridge 29
Johannesburg 29
Kent 29
Hangzhou 28
Lappeenranta 28
Boardman 27
Hebei 27
Phoenix 27
Baghdad 26
Belo Horizonte 26
Lancaster 26
Seoul 26
Mountain View 25
Shenyang 25
Brasília 24
Detroit 24
Rio de Janeiro 23
Stockholm 23
Tianjin 23
Toronto 23
University Park 22
Galveston 21
Shanghai 21
Denver 20
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
St Louis 17
Abidjan 16
Dhaka 16
Totale 10.945
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Nome #
Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions 449
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 271
A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia 260
Hospital admissions from the emergency department of adult patients affected by myopathies 254
Alternative splicing alterations of Ca(2+) handling genes are associated with Ca(2+) signal dysregulation in DM1 and DM2 myotubes 242
Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study 222
Prevalence and clinical correlates of sleep disordered breathing in myotonic dystrophy types 1 and 2. 206
Alternative splicing alterations of Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes. 195
Successful treatment of acute autoimmune limbic encephalitis with negative VGKC and NMDAR antibodies: a case report 192
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. 192
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 184
Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort 182
Abnormal Cortical Thickness Is Associated With Deficits in Social Cognition in Patients With Myotonic Dystrophy Type 1 175
An Italian Neurology Outpatient Clinic Facing SARS-CoV-2 Pandemic: Data From 2,167 Patients 172
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 2 168
A Clinical and Epidemiological Prevalence Study on Friedreich's Ataxia in Latium, Italy 165
High Prevalence and Gender-Related Differences of Gastrointestinal Manifestations in a Cohort of DM1 Patients: A Perspective, Cross-Sectional Study 165
Elevated serum Neurofilament Light chain (NfL) as a potential biomarker of neurological involvement in Myotonic Dystrophy type 1 (DM1) 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
Cerebello-Cortical Alterations Linked to Cognitive and Social Problems in Patients With Spastic Paraplegia Type 7: A Preliminary Study 164
Muscle MRI in female carriers of dystrophinopathy 161
Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials 161
Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: A clinical and muscle MRI study 159
Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies 158
Reader response: High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2 158
Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience 157
Prevalence of spinocellulart ataxia type 2 mutation among ittalian Parkinsonian patients 156
Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa responsive parkinsonism 156
A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy. 156
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) 155
An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy. 153
Resveratrol corrects aberrant splicing of RYR1 pre-mRNA and Ca2+ signal in myotonic dystrophy type 1 myotubes 151
Clinical characteristics of metabolic associated fatty liver disease (MAFLD) in subjects with myotonic dystrophy type 1 (DM1) 151
MRI neurography findings in patients with idiopathic brachial plexopathy: correlations with clinical-neurophysiological data in eight consecutive cases 149
Cognitive impairment in myotonic dystrophy type 1 (DM1) : A longitudinal follow-up study 148
Successful treatment of acute autoimmune limbic encephalitis with negative VGKC and NMDAR antibodies: a case report 147
Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56 146
Response to "Autosomal recessive axonal neuropathy caused by HINT1 mutation: New association of a psychiatric disorder to the neurological phenotype" 146
Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS 144
An Italian Neurology Outpatient Clinic Facing SARS-CoV-2 Pandemic: Data From 2,167 Patients 142
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 141
New phenotype and pathology features in MYH7-related distal myopathy 139
Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors 136
Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials 135
Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: a cross-sectional study 134
Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion 133
Clinical use of bioelectrical impedance analysis in patients affected by myotonic dystrophy type 1: A cross-sectional study. 133
Prefrontal cortex controls human balance during overground ataxic gait 132
Abnormal Functional Brain Connectivity and Personality Traits in Myotonic Dystrophy Type 1 132
Caregivers’ and Physicians’ Perspectives on Alpha-Mannosidosis: A Report from Italy 132
DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7 130
Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita 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
Clinical features and outcome of patients with autoimmune cerebellar ataxia evaluated with the Scale for the Assessment and Rating of Ataxia 129
Clinical Reasoning: A Young Man With Subacute Onset of Spastic Paraparesis 128
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 128
A novel mutation in the SACS gene associated with a complicated form of spastic ataxia. 127
Central Nervous System involvement in Myotonic Dystrophies 126
Severe 5,10-methylenetetrahydrofolate reductase deficiency: A rare, treatable cause of complicated hereditary spastic paraplegia 126
Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors 126
fNIRS evaluation during a phonemic verbal task reveals prefrontal hypometabolism in patients affected by myotonic dystrophy type 1 125
Teaching NeuroImages: Autosomal dominant leukodystrophy in a sporadic case. 125
Brain Connectomics' Modification to Clarify Motor and Nonmotor Features of Myotonic Dystrophy Type 1 125
Unusual case of long survival patient with leptomeningeal carcinomatosis from breast cancer 125
SIADH in a patient with sensory ataxic neuropathy with anti-disialosyl antibodies (CANOMAD) 123
Translational control of polyamine metabolism by cnbp is required for drosophila locomotor function 123
Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2 121
Prevalence and Clinical Correlates of Cerebrovascular Alterations in Fabry Disease: A Cross-Sectional Study 119
Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis 119
Spectral domain optical coherence tomography findings in myotonic dystrophy 118
A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21 118
Positive outcome in a patient with Wilson's disease treated with reduced zinc dosage in pregnancy 117
fNIRS evaluation during a phonemic verbal task reveals prefrontal hypometabolism in patients affected by myotonic dystrophy type 1 117
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort 116
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. 116
Prefrontal cortex as a compensatory network in ataxic gait: a correlation study between cortical activity and gait parameters 116
A man with sarcoidosis and slurred speech 116
A novel nonsense EIF1AX mutation identified in a thyroid nodule histologically diagnosed as oncocytic carcinoma 115
Author response. 114
Imaging Features of Varicella Zoster Virus Cranial Multiple Mononeuropathies 114
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network 114
An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene 113
Serial neuroimaging findings in a novel case of sporadic progressive ataxia and palatal tremor (PAPT) 113
A unique case of multiphasic ADEM or what else? 112
The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families 112
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 112
Neurological Erdheim-Chester Disease Manifesting with Subacute or Progressive Cerebellar Ataxia: Novel Case Series and Review of the Literature 110
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 110
Ngs in hereditary ataxia: When rare becomes frequent 109
Remitting-Relapsing Carbamazepine Overdosage Mimicking Vertebrobasilar Transient Ischemic Attacks 107
Prefrontal cortex controls human balance during overground ataxic gait 106
Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2. 106
Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice 105
Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene 105
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients 105
DJ-1 modulates mitochondrial response to oxidative stress: Clues from a novel diagnosis of PARK7 104
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability 104
Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia 102
Totale 14.697
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Categoria #
all - tutte 86.886
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 86.886
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021300 0 0 0 0 0 0 0 0 0 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
2025/20267.533 1.185 185 644 859 1.232 444 1.493 464 549 478 0 0
Totale 20.709