IRIS PubliCatt

Modoni, Anna
 Distribuzione geografica
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Continente #
EU - Europa 2.609
NA - Nord America 2.605
AS - Asia 758
AF - Africa 13
Continente sconosciuto - Info sul continente non disponibili 6
SA - Sud America 6
OC - Oceania 5
Totale 6.002
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Nazione #
US - Stati Uniti d'America 2.522
DE - Germania 1.085
SE - Svezia 421
CN - Cina 338
IT - Italia 231
UA - Ucraina 228
SG - Singapore 181
PL - Polonia 151
IE - Irlanda 117
FR - Francia 105
GB - Regno Unito 95
ID - Indonesia 76
CA - Canada 59
IN - India 57
FI - Finlandia 53
RU - Federazione Russa 50
TR - Turchia 37
BE - Belgio 36
JP - Giappone 21
HK - Hong Kong 16
MX - Messico 16
NL - Olanda 14
IR - Iran 12
CI - Costa d'Avorio 9
BZ - Belize 7
ES - Italia 7
VN - Vietnam 7
AU - Australia 5
CH - Svizzera 5
IL - Israele 5
EU - Europa 4
RO - Romania 3
BR - Brasile 2
CO - Colombia 2
JO - Giordania 2
KZ - Kazakistan 2
PE - Perù 2
ZA - Sudafrica 2
A1 - Anonimo 1
A2 - ???statistics.table.value.countryCode.A2??? 1
AT - Austria 1
CZ - Repubblica Ceca 1
DK - Danimarca 1
HN - Honduras 1
HR - Croazia 1
IM - Isola di Man 1
KR - Corea 1
LT - Lituania 1
MA - Marocco 1
NO - Norvegia 1
PK - Pakistan 1
PT - Portogallo 1
SA - Arabia Saudita 1
SC - Seychelles 1
TH - Thailandia 1
Totale 6.002
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Città #
Chandler 514
Ashburn 171
Jacksonville 155
Warsaw 146
Ann Arbor 141
San Mateo 140
Singapore 129
Dublin 115
Wilmington 88
Nanjing 85
Jakarta 76
Nürnberg 74
Woodbridge 73
Houston 68
New York 68
Dearborn 51
Boston 49
Fairfield 45
Moscow 37
Redwood City 37
Lawrence 35
Milan 35
Ottawa 35
Seattle 35
Izmir 33
Nanchang 32
Princeton 30
Cattolica 28
Brussels 27
Beijing 26
Bremen 25
Munich 24
Redmond 23
Marseille 20
Rome 20
Boardman 19
Norwalk 19
Chicago 17
Hebei 16
San Jose 15
Mountain View 14
Kunming 13
University Park 13
Cambridge 12
Leawood 12
Falls Church 11
Jiaxing 11
Lancaster 11
Zhengzhou 11
Hangzhou 10
Kansas City 10
Pune 10
Shanghai 10
Shenyang 10
Tianjin 10
Abidjan 9
Changsha 9
Buffalo 8
Helsinki 8
Hong Kong 8
Waanrode 8
Belize City 7
Kish 7
Renton 7
Detroit 6
Guangzhou 6
Hefei 6
Los Angeles 6
Hanoi 5
Kraków 5
Naples 5
Simi Valley 5
Toronto 5
Andover 4
Augusta 4
Busto Arsizio 4
Campagnano di Roma 4
Clearwater 4
Cuauhtémoc 4
Frattamaggiore 4
Fremont 4
Jinan 4
Köln 4
Las Vegas 4
Novara 4
Orbassano 4
Perugia 4
Phoenix 4
Saint Louis 4
Bologna 3
Cava de' Tirreni 3
Florence 3
Landshut 3
Lanzhou 3
London 3
Ningbo 3
Philadelphia 3
Tokyo 3
Vercelli 3
Vittuone 3
Totale 3.161
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Nome #
Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions 362
Abnormal sexual behaviour during sleep. 207
A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia 195
Sleeep quality in Facioscapulohumeral muscular dystrophy. 194
Alternative splicing alterations of Ca(2+) handling genes are associated with Ca(2+) signal dysregulation in DM1 and DM2 myotubes 190
Persistence of abnormal electrophysiological findings after carpal tunnel release 152
Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutaton causing a double patogenetic effect 134
Successful treatment of acute autoimmune limbic encephalitis with negative VGKC and NMDAR antibodies: a case report 133
Abnormal vascular smooth muscle cell proliferation in sural nerve biopsy from a patient with sensorimotor axonal neuropathy. 132
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. 129
Sleep quality in Facioscapulohumeral muscular dystrophy 123
Alternative splicing alterations of Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes. 118
Lambert-Eaton Myasthenic Syndrome associated with gastric schwannoma 115
COVID-19 atypical Parsonage-Turner syndrome: a case report 114
Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies 112
Cognitive impairment in myotonic dystrophy type 1 (DM1) : A longitudinal follow-up study 111
An Italian family with inclusion-body myopathy and frontotemporal dementia due to mutation in the VCP gene 111
Admission neurophysiological abnormalities in Guillain-Barré syndrome: A single-center experience 105
Polymorphism of CAG motif of SK3 gene is associated with acute oxaliplatin neurotoxicity 104
Successful treatment of acute autoimmune limbic encephalitis with negative VGKC and NMDAR antibodies: a case report 103
Progressive multifocal leukoencephalopathy in patients with follicular lymphoma treated with bendamustine plus rituximab followed by rituximab maintenance 96
Progressive multifocal leukoencephalopathy in patients with follicular lymphoma treated with bendamustine plus rituximab followed by rituximab maintenance 96
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) 92
An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy. 92
Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease 91
Teaching NeuroImages: cochleitis: a rare cause of acute deafness in a patient with HCV 89
A novel mutation in the SACS gene associated with a complicated form of spastic ataxia. 87
DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7 84
High Prevalence and Gender-Related Differences of Gastrointestinal Manifestations in a Cohort of DM1 Patients: A Perspective, Cross-Sectional Study 84
Central Nervous System involvement in Myotonic Dystrophies 82
Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita 81
SIADH in a patient with sensory ataxic neuropathy with anti-disialosyl antibodies (CANOMAD) 80
Response to "Autosomal recessive axonal neuropathy caused by HINT1 mutation: New association of a psychiatric disorder to the neurological phenotype" 80
Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS 77
Nerve conduction studies of the sural nerve: Normative data from a single-center experience 74
Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors 73
Teaching NeuroImages: cochleitis: a rare cause of acute deafness in a patient with HCV 73
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). 72
Low rate repetitive nerve stimulation in Lambert-Eaton myasthenic syndrome: Peculiar characteristics of decremental pattern from a single-centre experience 72
An atypical case of acute disseminated encephalomyelitis associated with cytomegalovirus infection 71
Positive outcome in a patient with Wilson's disease treated with reduced zinc dosage in pregnancy 70
Severe 5,10-methylenetetrahydrofolate reductase deficiency: A rare, treatable cause of complicated hereditary spastic paraplegia 70
Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia. 68
A man with sarcoidosis and slurred speech 65
Resveratrol corrects aberrant splicing of RYR1 pre-mRNA and Ca2+ signal in myotonic dystrophy type 1 myotubes 64
Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita 63
Effect of mexiletine on transitory depression of compound motor action potential in recessive myotonia congenita 62
DJ-1 modulates mitochondrial response to oxidative stress: Clues from a novel diagnosis of PARK7 60
Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2 60
Cognitive impairment in myotonic dystrophy type 1 (DM1): a longitudinal follow-up study 58
Serial neuroimaging findings in a novel case of sporadic progressive ataxia and palatal tremor (PAPT) 58
Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors 55
Dramatic improvement of myotonia permanens with flecainide: a two-case report of a possible bench-to-bedside pharmacogenetics strategy 54
Muscle hypertrophy in amyloid myopathy 54
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression. 52
Elevated serum Neurofilament Light chain (NfL) as a potential biomarker of neurological involvement in Myotonic Dystrophy type 1 (DM1) 49
A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia 47
Evidence of white matter involvement in SCA 7. 46
A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia 46
Secondary hypokalemic periodic paralysis as a rare clinical presentation of Conn syndrome 45
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 41
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression 39
Neurophysiological challenges in myasthenia gravis associated with MuSK antibodies: a case report 39
Cognitive impairment in myotonic dystrophy type 1 (DM1) : A longitudinal follow-up study. 35
Single-fiber PRC in MELAS3243 patients: Correlations between intratissue distribution and phenotypic expression of the mtDNA(A3243G) genotype 30
Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population. 29
Subdural hematoma in a young woman with an "old" brain 28
A Late Onset of Wernicke-Korsakoff Encephalopathy After Biliopancreatic Diversion: a Case Report 25
Characterization of the Pattern of Cognitive Impairment in Myotonic Dystrophy Type 1. 25
A new mtDNA mutation associated with a progressive encephalopathy and cytochrome c oxidase deficiency 24
COVID-19 atypical Parsonage-Turner syndrome: a case report 21
Pathogenic role of mtDNA duplications in mitochondrial diseases associated with mtDNA deletions. 20
Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene 9
Chapter "Myotonic dystrophies" in "Principles and Practice of the Muscular Dystrophies" 7
Myotonic Dystrophies 4
Totale 6.112
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Categoria #
all - tutte 22.654
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 22.654
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020597 0 0 53 46 67 58 64 30 55 66 98 60
2020/2021640 18 52 15 53 59 34 106 17 82 31 147 26
2021/2022760 49 49 12 60 39 64 25 121 40 47 110 144
2022/20231.416 140 181 116 219 93 205 40 135 203 23 29 32
2023/2024656 27 188 11 26 18 92 47 28 17 27 83 92
2024/2025217 34 66 117 0 0 0 0 0 0 0 0 0
Totale 6.112