IRIS UniCatt

Silvestri, Gabriella
 Distribuzione geografica
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Continente #
NA - Nord America 5.173
EU - Europa 4.669
AS - Asia 2.049
SA - Sud America 402
AF - Africa 44
OC - Oceania 11
Continente sconosciuto - Info sul continente non disponibili 8
Totale 12.356
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Nazione #
US - Stati Uniti d'America 5.058
DE - Germania 1.386
SE - Svezia 926
SG - Singapore 817
CN - Cina 657
IT - Italia 508
BR - Brasile 366
UA - Ucraina 337
PL - Polonia 288
IE - Irlanda 271
FR - Francia 252
GB - Regno Unito 199
FI - Finlandia 177
ID - Indonesia 176
IN - India 131
RU - Federazione Russa 111
CA - Canada 70
TR - Turchia 68
NL - Olanda 53
BE - Belgio 51
HK - Hong Kong 32
VN - Vietnam 32
AT - Austria 28
JP - Giappone 26
KR - Corea 26
MX - Messico 24
IR - Iran 19
AR - Argentina 15
CH - Svizzera 13
BZ - Belize 12
CI - Costa d'Avorio 12
ES - Italia 12
AU - Australia 9
BD - Bangladesh 9
RO - Romania 9
LT - Lituania 8
ZA - Sudafrica 8
CZ - Repubblica Ceca 7
EU - Europa 7
MA - Marocco 7
PT - Portogallo 7
SK - Slovacchia (Repubblica Slovacca) 7
PK - Pakistan 6
CO - Colombia 5
EC - Ecuador 5
EG - Egitto 5
KE - Kenya 5
UZ - Uzbekistan 5
BG - Bulgaria 4
IL - Israele 4
AE - Emirati Arabi Uniti 3
DK - Danimarca 3
HN - Honduras 3
HU - Ungheria 3
IQ - Iraq 3
JM - Giamaica 3
JO - Giordania 3
LK - Sri Lanka 3
PE - Perù 3
PS - Palestinian Territory 3
SA - Arabia Saudita 3
SC - Seychelles 3
TH - Thailandia 3
VE - Venezuela 3
AZ - Azerbaigian 2
DO - Repubblica Dominicana 2
GE - Georgia 2
KZ - Kazakistan 2
LA - Repubblica Popolare Democratica del Laos 2
LV - Lettonia 2
MT - Malta 2
NP - Nepal 2
NZ - Nuova Zelanda 2
OM - Oman 2
PH - Filippine 2
RS - Serbia 2
TM - Turkmenistan 2
TN - Tunisia 2
UY - Uruguay 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AL - Albania 1
BN - Brunei Darussalam 1
CL - Cile 1
CY - Cipro 1
DZ - Algeria 1
GY - Guiana 1
IM - Isola di Man 1
KG - Kirghizistan 1
LU - Lussemburgo 1
MN - Mongolia 1
NG - Nigeria 1
PA - Panama 1
PY - Paraguay 1
Totale 12.356
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Città #
Chandler 944
Singapore 486
Ashburn 408
Warsaw 268
Dublin 266
Jacksonville 250
San Mateo 244
Ann Arbor 219
Wilmington 185
Jakarta 175
Houston 131
Nanjing 127
Woodbridge 127
Munich 126
New York 121
Boston 120
Fairfield 120
Princeton 100
Helsinki 89
Rome 88
Redwood City 80
Dearborn 78
Nürnberg 71
Seattle 70
Moscow 65
Milan 62
Cattolica 59
Beijing 58
Lawrence 53
Izmir 51
Marseille 46
Redmond 45
Chicago 44
Nanchang 43
Frankfurt am Main 42
Los Angeles 42
Ottawa 41
San Jose 41
Brussels 39
London 35
Norwalk 35
Hefei 34
The Dalles 33
São Paulo 32
Bremen 30
Cambridge 29
Hebei 27
Nuremberg 27
Boardman 26
Hangzhou 26
Seoul 26
Lancaster 25
Mountain View 25
Shenyang 24
University Park 22
Detroit 21
Paris 21
Buffalo 19
Düsseldorf 19
Pune 19
Zhengzhou 18
Hong Kong 17
Jiaxing 17
Las Vegas 17
Kunming 16
San Diego 16
Tianjin 16
Belo Horizonte 15
Falls Church 15
Shanghai 15
Vienna 15
Toronto 14
Changsha 13
Lappeenranta 13
Abidjan 12
Belize City 12
Kansas City 12
Phoenix 12
Santa Clara 12
Busto Arsizio 11
Dong Ket 11
Fremont 11
Leawood 11
Portsmouth 11
Renton 11
Falkenstein 10
Hanoi 10
North Bergen 10
Saint Louis 10
Stockholm 10
Waanrode 10
Bologna 9
Columbus 9
Guangzhou 9
Brasília 8
Brooklyn 8
Jinan 8
Qingdao 8
Amsterdam 7
Campinas 7
Totale 6.655
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Nome #
Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions 372
Prefrontal cortex as a compensatory network in ataxic gait: a correlation study between cortical activity and gait parameters 272
A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia 205
Alternative splicing alterations of Ca(2+) handling genes are associated with Ca(2+) signal dysregulation in DM1 and DM2 myotubes 201
Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study 183
Hospital admissions from the emergency department of adult patients affected by myopathies 169
Prevalence and clinical correlates of sleep disordered breathing in myotonic dystrophy types 1 and 2. 161
Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study 160
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. 146
Successful treatment of acute autoimmune limbic encephalitis with negative VGKC and NMDAR antibodies: a case report 144
Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutaton causing a double patogenetic effect 144
Muscle imaging findings in GNE myopathy 137
Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies 126
Alternative splicing alterations of Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes. 126
Abnormal Cortical Thickness Is Associated With Deficits in Social Cognition in Patients With Myotonic Dystrophy Type 1 125
Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: A clinical and muscle MRI study 124
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) 124
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 2 123
A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy. 122
Cognitive impairment in myotonic dystrophy type 1 (DM1) : A longitudinal follow-up study 119
Cerebello-Cortical Alterations Linked to Cognitive and Social Problems in Patients With Spastic Paraplegia Type 7: A Preliminary Study 119
Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa responsive parkinsonism 117
Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort 117
Muscle MRI in female carriers of dystrophinopathy 115
An Italian Neurology Outpatient Clinic Facing SARS-CoV-2 Pandemic: Data From 2,167 Patients 114
Successful treatment of acute autoimmune limbic encephalitis with negative VGKC and NMDAR antibodies: a case report 110
Prevalence of spinocellulart ataxia type 2 mutation among ittalian Parkinsonian patients 107
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) 106
An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy. 106
Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: a cross-sectional study 102
Reader response: High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2 101
Prefrontal cortex controls human balance during overground ataxic gait 100
High Prevalence and Gender-Related Differences of Gastrointestinal Manifestations in a Cohort of DM1 Patients: A Perspective, Cross-Sectional Study 100
Response to "Autosomal recessive axonal neuropathy caused by HINT1 mutation: New association of a psychiatric disorder to the neurological phenotype" 98
Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience 95
New phenotype and pathology features in MYH7-related distal myopathy 94
Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56 94
Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita 93
Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion 93
A novel mutation in the SACS gene associated with a complicated form of spastic ataxia. 93
DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7 93
fNIRS evaluation during a phonemic verbal task reveals prefrontal hypometabolism in patients affected by myotonic dystrophy type 1 91
Clinical characteristics of metabolic associated fatty liver disease (MAFLD) in subjects with myotonic dystrophy type 1 (DM1) 91
Teaching NeuroImages: Autosomal dominant leukodystrophy in a sporadic case. 90
Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors 90
Central Nervous System involvement in Myotonic Dystrophies 89
Resveratrol corrects aberrant splicing of RYR1 pre-mRNA and Ca2+ signal in myotonic dystrophy type 1 myotubes 89
Clinical features and outcome of patients with autoimmune cerebellar ataxia evaluated with the Scale for the Assessment and Rating of Ataxia 89
SIADH in a patient with sensory ataxic neuropathy with anti-disialosyl antibodies (CANOMAD) 88
Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS 86
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). 85
Remitting-Relapsing Carbamazepine Overdosage Mimicking Vertebrobasilar Transient Ischemic Attacks 84
Abnormal Functional Brain Connectivity and Personality Traits in Myotonic Dystrophy Type 1 83
MRI neurography findings in patients with idiopathic brachial plexopathy: correlations with clinical-neurophysiological data in eight consecutive cases 83
Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis 81
Spectral domain optical coherence tomography findings in myotonic dystrophy 80
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 80
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. 79
Severe 5,10-methylenetetrahydrofolate reductase deficiency: A rare, treatable cause of complicated hereditary spastic paraplegia 79
Editorial: Myotonic Dystrophies: Developments in Research From Bench to Bedside 79
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 79
Imaging Features of Varicella Zoster Virus Cranial Multiple Mononeuropathies 78
Clinical use of bioelectrical impedance analysis in patients affected by myotonic dystrophy type 1: A cross-sectional study. 78
Positive outcome in a patient with Wilson's disease treated with reduced zinc dosage in pregnancy 77
Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2 77
Prefrontal cortex as a compensatory network in ataxic gait: a correlation study between cortical activity and gait parameters 76
An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene 75
Elevated serum Neurofilament Light chain (NfL) as a potential biomarker of neurological involvement in Myotonic Dystrophy type 1 (DM1) 74
fNIRS evaluation during a phonemic verbal task reveals prefrontal hypometabolism in patients affected by myotonic dystrophy type 1 74
Author response. 74
Serial neuroimaging findings in a novel case of sporadic progressive ataxia and palatal tremor (PAPT) 74
A man with sarcoidosis and slurred speech 74
A Clinical and Epidemiological Prevalence Study on Friedreich's Ataxia in Latium, Italy 73
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in the Time of Next-Generation Sequencing 73
Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia 73
Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia. 72
A novel nonsense EIF1AX mutation identified in a thyroid nodule histologically diagnosed as oncocytic carcinoma 72
Prefrontal cortex controls human balance during overground ataxic gait 71
Unusual case of long survival patient with leptomeningeal carcinomatosis from breast cancer 71
DJ-1 modulates mitochondrial response to oxidative stress: Clues from a novel diagnosis of PARK7 70
Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2. 69
A unique case of multiphasic ADEM or what else? 68
Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors 68
Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials 68
Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita 67
Brain Connectomics' Modification to Clarify Motor and Nonmotor Features of Myotonic Dystrophy Type 1 67
A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21 67
Cognitive impairment in myotonic dystrophy type 1 (DM1): a longitudinal follow-up study 66
MRI neurography findings in patients with idiopathic brachial plexopathy: correlations with clinical-neurophysiological data in eight consecutive cases 66
The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families 65
Translational control of polyamine metabolism by cnbp is required for drosophila locomotor function 65
An Italian Neurology Outpatient Clinic Facing SARS-CoV-2 Pandemic: Data From 2,167 Patients 64
Caregivers’ and Physicians’ Perspectives on Alpha-Mannosidosis: A Report from Italy 64
Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up. 62
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression. 61
Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures. 60
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network 60
Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials 59
Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials 59
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 58
Totale 9.834
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Categoria #
all - tutte 63.795
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 63.795
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020284 0 0 0 0 0 0 0 0 0 0 178 106
2020/20211.203 35 94 46 100 120 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
2024/20252.498 57 100 277 84 229 132 140 156 462 249 612 0
Totale 12.596