TAIOLI, Federica
 Distribuzione geografica
Continente #
NA - Nord America 2.011
EU - Europa 1.593
AS - Asia 580
AF - Africa 8
OC - Oceania 6
SA - Sud America 5
Continente sconosciuto - Info sul continente non disponibili 3
Totale 4.206
Nazione #
US - Stati Uniti d'America 2.005
GB - Regno Unito 448
CN - Cina 412
SE - Svezia 252
FR - Francia 177
IT - Italia 170
IE - Irlanda 128
RU - Federazione Russa 120
FI - Finlandia 101
SG - Singapore 99
DE - Germania 88
BE - Belgio 35
UA - Ucraina 30
NL - Olanda 24
KR - Corea 23
IR - Iran 12
VN - Vietnam 12
AU - Australia 6
HK - Hong Kong 6
IN - India 6
CA - Canada 5
EG - Egitto 5
ES - Italia 3
EU - Europa 3
AR - Argentina 2
AT - Austria 2
CL - Cile 2
CZ - Repubblica Ceca 2
DK - Danimarca 2
GR - Grecia 2
IL - Israele 2
RO - Romania 2
TR - Turchia 2
BD - Bangladesh 1
CH - Svizzera 1
HR - Croazia 1
HU - Ungheria 1
ID - Indonesia 1
JM - Giamaica 1
JP - Giappone 1
KZ - Kazakistan 1
LV - Lettonia 1
MA - Marocco 1
MD - Moldavia 1
MY - Malesia 1
PL - Polonia 1
RS - Serbia 1
SA - Arabia Saudita 1
TG - Togo 1
VE - Venezuela 1
ZA - Sudafrica 1
Totale 4.206
Città #
Southend 390
Chandler 363
Jacksonville 316
Woodbridge 302
Ann Arbor 191
Dublin 128
Ashburn 83
Singapore 74
Verona 72
Wilmington 70
Beijing 62
Houston 61
Lawrence 55
Princeton 55
New York 51
Jinan 47
Nanjing 30
Sindelfingen 25
Kent 24
Redmond 24
Shenyang 23
Hebei 22
Seoul 22
Falls Church 20
Brussels 19
Nanchang 19
Changsha 18
Helsinki 17
Waanrode 16
Ningbo 15
Tianjin 15
Milan 13
Hangzhou 12
Los Angeles 12
Taiyuan 12
Boardman 11
Guangzhou 10
Taizhou 10
Zhengzhou 10
Auburn Hills 9
Chicago 8
Seattle 8
Haikou 7
Jiaxing 7
Detroit 6
Hong Kong 6
Bologna 5
Cairo 5
Clearwater 5
Dallas 5
Florence 5
Kemerovo 5
Santa Clara 5
Dong Ket 4
Fairfield 4
Fuzhou 4
Lancaster 4
Lanzhou 4
Norwalk 4
Redwood City 4
Canberra 3
Castelfidardo 3
Edinburgh 3
Riva 3
San Francisco 3
Toronto 3
Zanjan 3
Andover 2
Ardabil 2
Brno 2
Des Moines 2
Dongguan 2
Lappeenranta 2
Moscow 2
Newark 2
Novokuznetsk 2
Rome 2
Sacramento 2
San Diego 2
Saulxures-les-Nancy 2
Settimo Torinese 2
Somma Vesuviana 2
Tel Aviv 2
Vijayawada 2
Washington 2
Aarau 1
Aigaleo 1
Almaty 1
Amsterdam 1
Baracaldo 1
Belgrade 1
Boston 1
Brasov 1
Budapest 1
Cambridge 1
Chisinau 1
Cincinnati 1
Costa Mesa 1
Delhi 1
Dhaka 1
Totale 2.905
Nome #
Malattia di Charco-Marie-Tooth. Guida alla diagnosi molecolare. 143
Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene. 127
X-linked dominant Charcot-Marie Tooth neuropathy: analysis of a pedigree with a novel mutation of connexin32 111
Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype. 111
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 110
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family. 109
Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. 106
Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B 105
Congenital hypomyelination neuropathy with a novel mutation of PMP22 102
Gonosomal mosaicism of a novel heterozygous mutation of P0 causes Charcot-Marie-Tooth neuropathy type 1B with apparent autosomal recessive inheritance 101
PMP22 related congenital hypomyelination neuropathy 101
Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene 98
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy and right-to-left shunt: lack of evidence for an association in a prevalence study. 96
Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0 94
Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2p12 duplication: a cross-sectional morphometric and immunohistochemical study in twenty cases 93
Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene. 93
Convergent pathological and ultrasound features in hereditary syndromic and non‐syndromic minifascicular neuropathy related to DHH 93
NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES 90
Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H. 89
NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES 89
Expression and regulation of glial-cell-line-derived neurotrophic factor (GDNF) mRNA in human astrocytes in vitro 87
Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22 87
Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene. 87
Multiple sclerosis associated with duplicated CMT1A: a report of two cases 76
Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 Notch3 gene mutation 75
A novel LITAF/SIMPLE variant within a family with minimal demyelinating Charcot-Marie-Tooth disease. 75
Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid neuropathy 74
Adult onset charcot-marie-tooth disease type 1D with an Arg381Cys mutation of EGR2. 73
A novel GJB1 mutation in an Italian patient with Charcot–Marie–Tooth disease and pyramidal signs. 73
The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study 72
Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I 71
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience 70
Considerable post-partum worsening in a patient with CMT2E. 69
Clinical, electrophysiological and pathological findings of a patient with CMT2 due to the p.Ala738Val mitofusin 2 mutation. 68
Sporadic transthyretin amyloidosis with a novel TTR gene mutation misdiagnosed as primary amyloidosis. 68
Aberrant splicing in GJB1 and the relevance of 5′ UTR in CMTX1 pathogenesis 66
Reply: Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot–Marie–Tooth disease 65
Vascular endothelial growth factor helps differentiate neuropathies in rare plasma cell dyscrasias. 64
Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center 64
Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22 63
Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero 62
Novel mutation of the P0 extracellular domain causes a Dejerine-Sottas syndrome 62
Myelin protein zero Val102fs mutation manifesting with isolated spinal root hypertrophy. 62
Autonomic nervous system involvement in a new CMT2B family. 62
Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): pitfalls and red flags 56
Early-onset hereditary neuropathy with liability to pressure palsy 54
Peripheral neuropathy and 46XY gonadal dysgenesis: Confirmation of a heterogeneous entity. 54
TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature 49
CIDP, CMT1B, or CMT1B plus CIDP? 49
Neuropathic pain in Charcot-Marie-Tooth Disease 46
Very early onset of ATTRE89Q amyloidosis in a homozygous patient 42
Nerve ultrasound findings differentiate Charcot-Marie-Tooth disease (CMT) 1A from other demyelinating CMTs 38
Nerve size correlates with clinical severity in Charcot–Marie–Tooth disease 1A 35
Rare among rare: phenotypes of uncommon CMT genotypes 35
Inherited motor-sensory neuropathy with upper limb predominance associated with the tropomyosin-receptor kinase fused gene 28
Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry 15
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy 10
Totale 4.267
Categoria #
all - tutte 14.788
article - articoli 13.340
book - libri 0
conference - conferenze 1.448
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 29.576


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020388 0 0 0 49 40 46 50 42 12 53 35 61
2020/2021502 29 65 33 40 43 50 35 45 41 11 82 28
2021/2022548 63 145 10 55 25 26 10 29 24 18 48 95
2022/20231.013 66 101 89 198 84 228 20 63 119 15 21 9
2023/2024448 16 36 23 50 50 80 12 24 1 36 84 36
2024/2025229 67 68 39 55 0 0 0 0 0 0 0 0
Totale 4.267