IRIS PubliCatt

Silvestri, Gabriella
 Distribuzione geografica
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Continente #
NA - Nord America 4.749
EU - Europa 3.901
AS - Asia 721
AF - Africa 15
OC - Oceania 10
SA - Sud America 10
Continente sconosciuto - Info sul continente non disponibili 8
Totale 9.414
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Nazione #
US - Stati Uniti d'America 4.665
DE - Germania 1.181
SE - Svezia 889
CN - Cina 435
IT - Italia 374
UA - Ucraina 327
PL - Polonia 273
IE - Irlanda 269
FR - Francia 190
GB - Regno Unito 153
IN - India 108
FI - Finlandia 99
TR - Turchia 62
CA - Canada 49
BE - Belgio 43
NL - Olanda 32
JP - Giappone 25
RU - Federazione Russa 25
MX - Messico 22
HK - Hong Kong 20
IR - Iran 19
SG - Singapore 17
VN - Vietnam 15
BZ - Belize 12
CI - Costa d'Avorio 12
CH - Svizzera 10
ES - Italia 10
AU - Australia 9
RO - Romania 8
EU - Europa 7
BR - Brasile 6
SK - Slovacchia (Repubblica Slovacca) 4
AT - Austria 3
IL - Israele 3
PE - Perù 3
SC - Seychelles 3
CZ - Repubblica Ceca 2
DK - Danimarca 2
KR - Corea 2
LK - Sri Lanka 2
PT - Portogallo 2
SA - Arabia Saudita 2
TH - Thailandia 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AE - Emirati Arabi Uniti 1
BN - Brunei Darussalam 1
CL - Cile 1
HN - Honduras 1
HU - Ungheria 1
ID - Indonesia 1
IM - Isola di Man 1
IQ - Iraq 1
KZ - Kazakistan 1
LT - Lituania 1
LV - Lettonia 1
MN - Mongolia 1
NZ - Nuova Zelanda 1
OM - Oman 1
PK - Pakistan 1
RS - Serbia 1
UZ - Uzbekistan 1
Totale 9.414
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Città #
Chandler 939
Ashburn 374
Dublin 264
Warsaw 264
Jacksonville 246
San Mateo 242
Ann Arbor 205
Wilmington 184
Houston 131
Nanjing 127
Woodbridge 124
Fairfield 120
Boston 117
New York 111
Princeton 100
Redwood City 80
Dearborn 76
Nürnberg 70
Seattle 66
Cattolica 59
Milan 56
Beijing 55
Lawrence 52
Izmir 51
Rome 49
Marseille 45
Redmond 45
Nanchang 43
San Jose 41
Chicago 40
Ottawa 36
Norwalk 34
Brussels 31
Munich 30
Bremen 29
Cambridge 29
Helsinki 29
Hebei 26
Hangzhou 25
Lancaster 25
Mountain View 25
Boardman 24
London 23
Shenyang 22
University Park 22
Detroit 21
Buffalo 19
Pune 19
Jiaxing 17
Los Angeles 17
Las Vegas 16
Paris 16
San Diego 16
Zhengzhou 16
Falls Church 15
Tianjin 15
Kunming 14
Changsha 13
Abidjan 12
Belize City 12
Kansas City 12
Busto Arsizio 11
Dong Ket 11
Fremont 11
Leawood 11
Renton 11
Saint Louis 10
Waanrode 10
Hong Kong 8
Qingdao 8
Shanghai 8
Hefei 7
Jinan 7
Simi Valley 7
Washington 7
Cuauhtémoc 6
Dallas 6
Edinburgh 6
Guangzhou 6
Kocaeli 6
Kraków 6
Lappeenranta 6
Phoenix 6
Singapore 6
Amsterdam 5
Augusta 5
Kish 5
Monza 5
Saint Petersburg 5
Toronto 5
Changchun 4
Clearwater 4
Ferentino 4
Groningen 4
Hadamar 4
Hanoi 4
Indiana 4
Köln 4
Stockholm 4
Zanjan 4
Totale 5.287
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Nome #
Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions 357
Prefrontal cortex as a compensatory network in ataxic gait: a correlation study between cortical activity and gait parameters 262
A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia 189
Alternative splicing alterations of Ca(2+) handling genes are associated with Ca(2+) signal dysregulation in DM1 and DM2 myotubes 185
Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study 148
Prevalence and clinical correlates of sleep disordered breathing in myotonic dystrophy types 1 and 2. 145
Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study 130
Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutaton causing a double patogenetic effect 128
Successful treatment of acute autoimmune limbic encephalitis with negative VGKC and NMDAR antibodies: a case report 127
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. 125
Muscle imaging findings in GNE myopathy 119
A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy. 113
Alternative splicing alterations of Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes. 111
Abnormal Cortical Thickness Is Associated With Deficits in Social Cognition in Patients With Myotonic Dystrophy Type 1 111
Cerebello-Cortical Alterations Linked to Cognitive and Social Problems in Patients With Spastic Paraplegia Type 7: A Preliminary Study 109
Cognitive impairment in myotonic dystrophy type 1 (DM1) : A longitudinal follow-up study 108
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 2 108
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) 107
Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: A clinical and muscle MRI study 105
Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies 105
Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa responsive parkinsonism 101
Successful treatment of acute autoimmune limbic encephalitis with negative VGKC and NMDAR antibodies: a case report 99
Muscle MRI in female carriers of dystrophinopathy 96
Prevalence of spinocellulart ataxia type 2 mutation among ittalian Parkinsonian patients 90
An Italian Neurology Outpatient Clinic Facing SARS-CoV-2 Pandemic: Data From 2,167 Patients 90
Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: a cross-sectional study 88
Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion 87
An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy. 86
A novel mutation in the SACS gene associated with a complicated form of spastic ataxia. 85
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) 85
fNIRS evaluation during a phonemic verbal task reveals prefrontal hypometabolism in patients affected by myotonic dystrophy type 1 80
Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita 78
Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56 78
High Prevalence and Gender-Related Differences of Gastrointestinal Manifestations in a Cohort of DM1 Patients: A Perspective, Cross-Sectional Study 78
Central Nervous System involvement in Myotonic Dystrophies 77
Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort 77
Reader response: High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2 77
DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7 76
New phenotype and pathology features in MYH7-related distal myopathy 75
Teaching NeuroImages: Autosomal dominant leukodystrophy in a sporadic case. 75
Response to "Autosomal recessive axonal neuropathy caused by HINT1 mutation: New association of a psychiatric disorder to the neurological phenotype" 75
SIADH in a patient with sensory ataxic neuropathy with anti-disialosyl antibodies (CANOMAD) 74
Remitting-Relapsing Carbamazepine Overdosage Mimicking Vertebrobasilar Transient Ischemic Attacks 73
Editorial: Myotonic Dystrophies: Developments in Research From Bench to Bedside 70
Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience 70
Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS 69
Abnormal Functional Brain Connectivity and Personality Traits in Myotonic Dystrophy Type 1 69
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. 68
Clinical characteristics of metabolic associated fatty liver disease (MAFLD) in subjects with myotonic dystrophy type 1 (DM1) 68
Prefrontal cortex controls human balance during overground ataxic gait 67
Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors 67
An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene 66
Positive outcome in a patient with Wilson's disease treated with reduced zinc dosage in pregnancy 66
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). 66
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in the Time of Next-Generation Sequencing 66
Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis 66
Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia. 65
Severe 5,10-methylenetetrahydrofolate reductase deficiency: A rare, treatable cause of complicated hereditary spastic paraplegia 65
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 65
MRI neurography findings in patients with idiopathic brachial plexopathy: correlations with clinical-neurophysiological data in eight consecutive cases 64
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 64
Clinical use of bioelectrical impedance analysis in patients affected by myotonic dystrophy type 1: A cross-sectional study. 63
Prefrontal cortex as a compensatory network in ataxic gait: a correlation study between cortical activity and gait parameters 62
Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia 62
Clinical features and outcome of patients with autoimmune cerebellar ataxia evaluated with the Scale for the Assessment and Rating of Ataxia 62
fNIRS evaluation during a phonemic verbal task reveals prefrontal hypometabolism in patients affected by myotonic dystrophy type 1 61
Imaging Features of Varicella Zoster Virus Cranial Multiple Mononeuropathies 61
Author response. 60
Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita 60
A man with sarcoidosis and slurred speech 60
Resveratrol corrects aberrant splicing of RYR1 pre-mRNA and Ca2+ signal in myotonic dystrophy type 1 myotubes 59
A novel nonsense EIF1AX mutation identified in a thyroid nodule histologically diagnosed as oncocytic carcinoma 58
MRI neurography findings in patients with idiopathic brachial plexopathy: correlations with clinical-neurophysiological data in eight consecutive cases 57
Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2. 57
Spectral domain optical coherence tomography findings in myotonic dystrophy 57
Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2 55
Cognitive impairment in myotonic dystrophy type 1 (DM1): a longitudinal follow-up study 54
DJ-1 modulates mitochondrial response to oxidative stress: Clues from a novel diagnosis of PARK7 54
Brain Connectomics' Modification to Clarify Motor and Nonmotor Features of Myotonic Dystrophy Type 1 53
The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families 53
Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up. 52
A Clinical and Epidemiological Prevalence Study on Friedreich's Ataxia in Latium, Italy 51
Serial neuroimaging findings in a novel case of sporadic progressive ataxia and palatal tremor (PAPT) 51
Caregivers’ and Physicians’ Perspectives on Alpha-Mannosidosis: A Report from Italy 51
Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures. 50
Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors 50
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression. 48
A unique case of multiphasic ADEM or what else? 48
A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21 48
Concentric muscle involvement in POLG-related distal myopathy 44
Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials 44
Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect. 43
Clarification on Uveal Melanoma Associated With Myotonic Dystrophy 43
Myotonic dystrophy type 1 cosegregating with autosomal dominant polycystic kidney disease type 2 43
Evidence of white matter involvement in SCA 7. 42
A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia 42
A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia 42
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 42
Unusual case of long survival patient with leptomeningeal carcinomatosis from breast cancer 42
Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials 42
Totale 8.019
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Categoria #
all - tutte 39.605
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 39.605
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019157 0 0 0 0 0 0 0 0 0 0 91 66
2019/20201.192 242 40 78 46 85 73 98 52 97 101 175 105
2020/20211.192 33 93 46 99 119 63 229 40 172 68 171 59
2021/20221.484 96 108 36 170 64 105 51 242 84 79 200 249
2022/20232.728 329 353 226 368 169 383 87 234 372 49 93 65
2023/20241.014 64 393 43 87 28 162 93 51 33 57 3 0
Totale 9.643