IRIS
SANTORELLI, FILIPPO MARIA
 Distribuzione geografica
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Continente #
AS - Asia 1.320
NA - Nord America 1.158
EU - Europa 920
SA - Sud America 146
Continente sconosciuto - Info sul continente non disponibili 61
AF - Africa 37
OC - Oceania 6
Totale 3.648
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Nazione #
US - Stati Uniti d'America 1.096
SG - Singapore 538
RU - Federazione Russa 409
VN - Vietnam 292
IT - Italia 223
CN - Cina 210
BR - Brasile 109
HK - Hong Kong 99
DE - Germania 57
NL - Olanda 54
FR - Francia 52
BD - Bangladesh 49
UA - Ucraina 40
CA - Canada 39
IN - India 24
FI - Finlandia 21
GB - Regno Unito 18
JP - Giappone 18
MX - Messico 14
AR - Argentina 10
PK - Pakistan 10
ID - Indonesia 9
KR - Corea 9
PH - Filippine 9
AT - Austria 8
IQ - Iraq 8
PL - Polonia 8
ZA - Sudafrica 8
CI - Costa d'Avorio 7
EC - Ecuador 7
TH - Thailandia 7
BG - Bulgaria 6
CL - Cile 6
CO - Colombia 5
JO - Giordania 5
AU - Australia 4
ES - Italia 4
NP - Nepal 4
SE - Svezia 4
TN - Tunisia 4
TR - Turchia 4
TW - Taiwan 4
IE - Irlanda 3
LB - Libano 3
MA - Marocco 3
UZ - Uzbekistan 3
BA - Bosnia-Erzegovina 2
BO - Bolivia 2
DK - Danimarca 2
DZ - Algeria 2
EG - Egitto 2
HN - Honduras 2
IR - Iran 2
KE - Kenya 2
LT - Lituania 2
NZ - Nuova Zelanda 2
PE - Perù 2
PY - Paraguay 2
SY - Repubblica araba siriana 2
VE - Venezuela 2
AE - Emirati Arabi Uniti 1
AM - Armenia 1
AZ - Azerbaigian 1
BE - Belgio 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BS - Bahamas 1
BW - Botswana 1
CG - Congo 1
CH - Svizzera 1
CR - Costa Rica 1
GE - Georgia 1
GR - Grecia 1
JM - Giamaica 1
KG - Kirghizistan 1
KH - Cambogia 1
KZ - Kazakistan 1
LV - Lettonia 1
MQ - Martinica 1
NI - Nicaragua 1
PA - Panama 1
QA - Qatar 1
RO - Romania 1
SA - Arabia Saudita 1
SC - Seychelles 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
SN - Senegal 1
SV - El Salvador 1
SX - ???statistics.table.value.countryCode.SX??? 1
TG - Togo 1
UG - Uganda 1
UY - Uruguay 1
YT - Mayotte 1
ZM - Zambia 1
ZW - Zimbabwe 1
Totale 3.588
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Città #
Singapore 270
San Jose 255
Ashburn 117
Moscow 110
Hong Kong 94
Ho Chi Minh City 81
Beijing 75
Chandler 68
Hanoi 65
Santa Clara 55
Amsterdam 47
Naples 46
Council Bluffs 42
The Dalles 29
Hefei 28
Munich 27
Los Angeles 26
Lauterbourg 25
Millbury 23
New York 20
Dallas 17
Lawrence 17
Napoli 17
Tokyo 17
Buffalo 15
Haiphong 13
Wilmington 13
Boston 12
Frankfurt am Main 12
Des Moines 11
Ottawa 11
Redondo Beach 11
Helsinki 9
Rome 9
Casoria 8
Chicago 8
Montreal 8
Nuremberg 8
Milan 7
Orem 7
Tianjin 7
Atlanta 6
Da Nang 6
Lappeenranta 6
Mexico City 6
Princeton 6
Seoul 6
São Paulo 6
Toronto 6
Turku 6
Warsaw 6
Angri 5
Can Tho 5
Chennai 5
Düsseldorf 5
Johannesburg 5
Long Xuyen 5
Nanjing 5
Portsmouth 5
Seattle 5
Sofia 5
Amman 4
Brooklyn 4
Curitiba 4
Denver 4
Dhaka 4
Jacksonville 4
Ninh Bình 4
Nola 4
Quarto 4
San Francisco 4
Stockholm 4
Thái Bình 4
Vienna 4
Baghdad 3
Bangkok 3
Belo Horizonte 3
Biên Hòa 3
Bologna 3
Brasília 3
Casablanca 3
Fairfield 3
Guangzhou 3
Guayaquil 3
Ha Long 3
Karachi 3
Kathmandu 3
London 3
Paris 3
Phoenix 3
Roubaix 3
Santiago 3
Wuhan 3
Ansonia 2
Arzano 2
Auckland 2
Bengaluru 2
Bento Gonçalves 2
Birmingham 2
Bắc Ninh 2
Totale 1.973
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Nome #
Proximal weakness involvement in the first Italian case of Charcot-Marie-Tooth 2CC harboring a novel frameshift variant in NEFH 214
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease 182
Ataxia-myoclonus syndrome due to a novel homozygous ATP13A2 mutation 174
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders 141
Congenital myopathies: Clinical phenotypes and new diagnostic tools 139
Reversible valproate-induced subacute encephalopathy associated with a MT-ATP8 variant in the mitochondrial genome 136
Degenerative and acquired sporadic adult onset ataxia 134
The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families 133
Copy number variants account for a tiny fraction of undiagnosed myopathic patients 131
Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families 130
New AARS2 Mutations in Two Siblings With Tremor, Downbeat Nystagmus, and Primary Amenorrhea: A Benign Phenotype Without Leukoencephalopathy 125
Charcot-Marie-Tooth type 2CC misdiagnosed as Chronic Inflammatory Demyelinating Polyradiculoneuropathy 124
A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family 122
Of cognition and cerebellum in SCA48 121
Screening for RFC-1 pathological expansion in late-onset ataxias: a contribution to the differential diagnosis. 120
Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network 119
Tumor suppressor role of hsa-mir-193a-3p and-5p in cutaneous melanoma 118
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy. 116
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: An Italian cross-sectional study 116
Friedreich ataxia: 150 years of bench and bedside studies 113
CHARON: An Imaging-Based Diagnostic Algorithm to Navigate Through the Sea of Hereditary Degenerative Ataxias 112
Spinal Nerve Roots Abnormalities on MRI in a Child with SURF1 Mitochondrial Disease 110
Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations 106
Tanshinone IIA and Cryptotanshinone Counteract Inflammation by Regulating Gene and miRNA Expression in Human SGBS Adipocytes 106
Overt Hypogonadism May Not Be a Sentinel Sign of RING Finger Protein 216: Two Novel Mutations Associated with Ataxia, Chorea, and Fertility 97
Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis 91
The diagnostic approach to mitochondrial disorders in children in the era of next-generation sequencing: A 4-year cohort study 78
Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First‐Tier Approach 77
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase 76
Novel missense ALDH18A1 variant in a family with autosomal dominant spastic paraplegia 36
Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Clinical Features, Diagnostic Challenges, and the Role of Oxidative Stress in Pathophysiology 28
ASAH2 deficiency affects sphingolipid homeostasis and neuromotor control, causing a progressive neurological disorder 23
Totale 3.648
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Categoria #
all - tutte 11.790
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 11.790
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022125 0 1 2 1 0 2 2 7 6 14 31 59
2022/2023211 29 11 14 8 22 24 8 13 17 49 15 1
2023/2024121 11 20 9 9 2 13 7 12 0 3 28 7
2024/2025965 46 34 14 24 39 51 105 64 49 116 346 77
2025/20261.913 195 118 187 154 307 73 228 115 244 155 62 75
2026/2027150 57 93 0 0 0 0 0 0 0 0 0 0
Totale 3.648