CATALOGO DEI PRODOTTI DELLA RICERCA

TAIOLI, Federica
 Distribuzione geografica
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Continente #
NA - Nord America 2.050
EU - Europa 1.667
AS - Asia 758
SA - Sud America 52
AF - Africa 10
OC - Oceania 7
Continente sconosciuto - Info sul continente non disponibili 3
Totale 4.547
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Nazione #
US - Stati Uniti d'America 2.041
GB - Regno Unito 453
CN - Cina 428
SE - Svezia 252
SG - Singapore 252
FR - Francia 177
IT - Italia 174
RU - Federazione Russa 168
IE - Irlanda 128
FI - Finlandia 103
DE - Germania 97
BR - Brasile 44
BE - Belgio 36
UA - Ucraina 30
NL - Olanda 25
KR - Corea 23
IR - Iran 12
VN - Vietnam 12
CA - Canada 7
AU - Australia 6
HK - Hong Kong 6
IN - India 6
EG - Egitto 5
ID - Indonesia 5
AT - Austria 4
TR - Turchia 4
AR - Argentina 3
CL - Cile 3
ES - Italia 3
EU - Europa 3
IL - Israele 3
CZ - Repubblica Ceca 2
DK - Danimarca 2
GR - Grecia 2
JP - Giappone 2
LT - Lituania 2
RO - Romania 2
ZA - Sudafrica 2
BD - Bangladesh 1
CH - Svizzera 1
HR - Croazia 1
HU - Ungheria 1
JM - Giamaica 1
KZ - Kazakistan 1
LV - Lettonia 1
MA - Marocco 1
MD - Moldavia 1
MX - Messico 1
MY - Malesia 1
NZ - Nuova Zelanda 1
PK - Pakistan 1
PL - Polonia 1
RS - Serbia 1
SA - Arabia Saudita 1
SN - Senegal 1
TG - Togo 1
UY - Uruguay 1
VE - Venezuela 1
Totale 4.547
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Città #
Southend 390
Chandler 363
Jacksonville 316
Woodbridge 302
Ann Arbor 191
Singapore 190
Dublin 128
Ashburn 83
Verona 72
Wilmington 70
Beijing 63
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
Brussels 20
Falls Church 20
Helsinki 19
Nanchang 19
Changsha 18
Waanrode 16
Ningbo 15
Tianjin 15
Milan 14
Guangzhou 13
Hangzhou 13
Los Angeles 13
Taiyuan 12
Boardman 11
Taizhou 10
Zhengzhou 10
Auburn Hills 9
Santa Clara 9
Chicago 8
Moscow 8
Seattle 8
Bologna 7
Haikou 7
Jiaxing 7
Detroit 6
Hong Kong 6
Cairo 5
Clearwater 5
Dallas 5
Florence 5
Kemerovo 5
Belo Horizonte 4
Dong Ket 4
Fairfield 4
Frankfurt am Main 4
Fuzhou 4
Jakarta 4
Lancaster 4
Lanzhou 4
Norwalk 4
Redwood City 4
San Francisco 4
Toronto 4
Canberra 3
Castelfidardo 3
Edinburgh 3
London 3
Newark 3
Riva 3
São Paulo 3
Tel Aviv 3
Zanjan 3
Andover 2
Ardabil 2
Brno 2
Curitiba 2
Des Moines 2
Dongguan 2
Lappeenranta 2
Novokuznetsk 2
Nuremberg 2
Rome 2
Sacramento 2
San Diego 2
Saulxures-les-Nancy 2
Settimo Torinese 2
Somma Vesuviana 2
Tokyo 2
Vienna 2
Vijayawada 2
Washington 2
Aarau 1
Aigaleo 1
Almaty 1
Amsterdam 1
Aracoiaba 1
Araxá 1
Totale 3.064
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Nome #
Malattia di Charco-Marie-Tooth. Guida alla diagnosi molecolare. 148
Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene. 131
Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene. 124
Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype. 120
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 117
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family. 113
X-linked dominant Charcot-Marie Tooth neuropathy: analysis of a pedigree with a novel mutation of connexin32 113
Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. 112
Congenital hypomyelination neuropathy with a novel mutation of PMP22 111
Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B 110
Gonosomal mosaicism of a novel heterozygous mutation of P0 causes Charcot-Marie-Tooth neuropathy type 1B with apparent autosomal recessive inheritance 108
PMP22 related congenital hypomyelination neuropathy 107
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy and right-to-left shunt: lack of evidence for an association in a prevalence study. 104
Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene 103
Convergent pathological and ultrasound features in hereditary syndromic and non‐syndromic minifascicular neuropathy related to DHH 101
Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0 100
Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene. 100
NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES 97
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 96
Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H. 94
NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES 94
Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22 92
Expression and regulation of glial-cell-line-derived neurotrophic factor (GDNF) mRNA in human astrocytes in vitro 90
A novel LITAF/SIMPLE variant within a family with minimal demyelinating Charcot-Marie-Tooth disease. 83
Adult onset charcot-marie-tooth disease type 1D with an Arg381Cys mutation of EGR2. 82
Multiple sclerosis associated with duplicated CMT1A: a report of two cases 79
Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid neuropathy 78
The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study 78
Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 Notch3 gene mutation 77
A novel GJB1 mutation in an Italian patient with Charcot–Marie–Tooth disease and pyramidal signs. 77
Considerable post-partum worsening in a patient with CMT2E. 76
Clinical, electrophysiological and pathological findings of a patient with CMT2 due to the p.Ala738Val mitofusin 2 mutation. 75
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience 75
Aberrant splicing in GJB1 and the relevance of 5′ UTR in CMTX1 pathogenesis 74
Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I 73
Autonomic nervous system involvement in a new CMT2B family. 71
Sporadic transthyretin amyloidosis with a novel TTR gene mutation misdiagnosed as primary amyloidosis. 70
Myelin protein zero Val102fs mutation manifesting with isolated spinal root hypertrophy. 68
Reply: Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot–Marie–Tooth disease 68
Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center 68
Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22 67
Vascular endothelial growth factor helps differentiate neuropathies in rare plasma cell dyscrasias. 67
Peripheral neuropathy and 46XY gonadal dysgenesis: Confirmation of a heterogeneous entity. 67
Novel mutation of the P0 extracellular domain causes a Dejerine-Sottas syndrome 66
Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero 65
CIDP, CMT1B, or CMT1B plus CIDP? 60
Early-onset hereditary neuropathy with liability to pressure palsy 58
Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): pitfalls and red flags 58
TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature 53
Neuropathic pain in Charcot-Marie-Tooth Disease 51
Very early onset of ATTRE89Q amyloidosis in a homozygous patient 49
Rare among rare: phenotypes of uncommon CMT genotypes 42
Nerve ultrasound findings differentiate Charcot-Marie-Tooth disease (CMT) 1A from other demyelinating CMTs 41
Nerve size correlates with clinical severity in Charcot–Marie–Tooth disease 1A 38
Inherited motor-sensory neuropathy with upper limb predominance associated with the tropomyosin-receptor kinase fused gene 33
Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry 22
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy 15
Totale 4.609
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Categoria #
all - tutte 16.652
article - articoli 15.045
book - libri 0
conference - conferenze 1.607
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 33.304
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020253 0 0 0 0 0 0 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
2024/2025571 67 68 39 199 63 55 80 0 0 0 0 0
Totale 4.609