CATALOGO DEI PRODOTTI DELLA RICERCA

TAIOLI, Federica
 Distribuzione geografica
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Continente #
NA - Nord America 3.298
EU - Europa 2.866
AS - Asia 1.847
SA - Sud America 295
AF - Africa 50
OC - Oceania 10
Continente sconosciuto - Info sul continente non disponibili 3
Totale 8.369
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Nazione #
US - Stati Uniti d'America 3.248
RU - Federazione Russa 1.088
SG - Singapore 770
CN - Cina 534
GB - Regno Unito 491
IT - Italia 264
SE - Svezia 261
BR - Brasile 235
FR - Francia 198
VN - Vietnam 171
DE - Germania 154
HK - Hong Kong 147
IE - Irlanda 129
FI - Finlandia 122
KR - Corea 79
IN - India 37
BE - Belgio 36
NL - Olanda 30
UA - Ucraina 30
CA - Canada 29
AR - Argentina 26
PL - Polonia 16
ID - Indonesia 15
BD - Bangladesh 14
JP - Giappone 13
IR - Iran 12
TR - Turchia 11
ZA - Sudafrica 11
MX - Messico 10
NG - Nigeria 10
CL - Cile 8
IQ - Iraq 8
AT - Austria 7
ES - Italia 7
LT - Lituania 7
MA - Marocco 7
AU - Australia 6
CO - Colombia 6
EG - Egitto 6
DZ - Algeria 5
EC - Ecuador 5
VE - Venezuela 5
CZ - Repubblica Ceca 4
IL - Israele 4
PK - Pakistan 4
RO - Romania 4
SA - Arabia Saudita 4
DO - Repubblica Dominicana 3
EU - Europa 3
GR - Grecia 3
KE - Kenya 3
KZ - Kazakistan 3
NP - Nepal 3
PE - Perù 3
PS - Palestinian Territory 3
PY - Paraguay 3
UZ - Uzbekistan 3
AZ - Azerbaigian 2
BO - Bolivia 2
CH - Svizzera 2
DK - Danimarca 2
ET - Etiopia 2
JM - Giamaica 2
JO - Giordania 2
ME - Montenegro 2
OM - Oman 2
PH - Filippine 2
UY - Uruguay 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
BB - Barbados 1
BJ - Benin 1
BY - Bielorussia 1
CI - Costa d'Avorio 1
CR - Costa Rica 1
DM - Dominica 1
GE - Georgia 1
GT - Guatemala 1
HR - Croazia 1
HU - Ungheria 1
KG - Kirghizistan 1
KN - Saint Kitts e Nevis 1
LV - Lettonia 1
MD - Moldavia 1
MK - Macedonia 1
MY - Malesia 1
NC - Nuova Caledonia 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
PG - Papua Nuova Guinea 1
PR - Porto Rico 1
RS - Serbia 1
SN - Senegal 1
TG - Togo 1
TN - Tunisia 1
TO - Tonga 1
UG - Uganda 1
Totale 8.369
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Città #
Singapore 412
Southend 390
Chandler 363
Moscow 340
Jacksonville 316
Woodbridge 302
Dallas 297
Ashburn 275
San Jose 241
Ann Arbor 191
Hong Kong 146
Verona 130
Dublin 128
Beijing 81
New York 80
The Dalles 79
Wilmington 70
Houston 67
Lawrence 55
Princeton 55
Los Angeles 52
Hanoi 48
Jinan 47
Ho Chi Minh City 45
Munich 42
Buffalo 32
Nanjing 30
Sindelfingen 25
Kent 24
Redmond 24
Santa Clara 24
Seoul 24
Shenyang 23
Hebei 22
Helsinki 21
Brussels 20
Falls Church 20
Changsha 19
Council Bluffs 19
Nanchang 19
Columbus 18
Guangzhou 18
Denver 17
Redondo Beach 17
São Paulo 17
Tianjin 17
Ningbo 16
Waanrode 16
Chennai 15
Turku 15
Milan 14
Hangzhou 13
Tokyo 13
Boardman 12
Frankfurt am Main 12
Montreal 12
Orem 12
Taiyuan 12
Warsaw 12
Jakarta 11
London 11
Seattle 11
Zhengzhou 11
Atlanta 10
Chicago 10
Taizhou 10
Abuja 9
Auburn Hills 9
Bologna 9
Florence 9
San Francisco 9
Stockholm 9
Hải Dương 8
Jiaxing 8
Poplar 8
Brooklyn 7
Haikou 7
Boston 6
Cairo 6
Da Nang 6
Detroit 6
Haiphong 6
Manchester 6
Phoenix 6
Rio de Janeiro 6
Barnet 5
Belo Horizonte 5
Campinas 5
Clearwater 5
Johannesburg 5
Joinville 5
Kemerovo 5
Nuremberg 5
Rome 5
Thái Bình 5
Toronto 5
Biên Hòa 4
Brasília 4
Delhi 4
Dhaka 4
Totale 5.161
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Nome #
Malattia di Charco-Marie-Tooth. Guida alla diagnosi molecolare. 233
Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene. 213
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy and right-to-left shunt: lack of evidence for an association in a prevalence study. 206
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 204
Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype. 203
Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene. 199
Aberrant splicing in GJB1 and the relevance of 5′ UTR in CMTX1 pathogenesis 189
Congenital hypomyelination neuropathy with a novel mutation of PMP22 188
Convergent pathological and ultrasound features in hereditary syndromic and non‐syndromic minifascicular neuropathy related to DHH 187
A novel LITAF/SIMPLE variant within a family with minimal demyelinating Charcot-Marie-Tooth disease. 186
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 184
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family. 180
Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B 180
Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. 179
Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid neuropathy 177
Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene. 176
Adult onset charcot-marie-tooth disease type 1D with an Arg381Cys mutation of EGR2. 173
X-linked dominant Charcot-Marie Tooth neuropathy: analysis of a pedigree with a novel mutation of connexin32 169
Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22 169
CIDP, CMT1B, or CMT1B plus CIDP? 168
A novel GJB1 mutation in an Italian patient with Charcot–Marie–Tooth disease and pyramidal signs. 167
Clinical, electrophysiological and pathological findings of a patient with CMT2 due to the p.Ala738Val mitofusin 2 mutation. 166
Gonosomal mosaicism of a novel heterozygous mutation of P0 causes Charcot-Marie-Tooth neuropathy type 1B with apparent autosomal recessive inheritance 164
Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0 163
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience 161
NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES 160
PMP22 related congenital hypomyelination neuropathy 159
Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 Notch3 gene mutation 159
NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES 158
Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center 158
The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study 155
Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): pitfalls and red flags 152
Considerable post-partum worsening in a patient with CMT2E. 150
Autonomic nervous system involvement in a new CMT2B family. 143
Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene 142
Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H. 142
Expression and regulation of glial-cell-line-derived neurotrophic factor (GDNF) mRNA in human astrocytes in vitro 140
Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I 137
Neuropathic pain in Charcot-Marie-Tooth Disease 133
Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry 124
Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22 115
Multiple sclerosis associated with duplicated CMT1A: a report of two cases 113
Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero 112
Novel mutation of the P0 extracellular domain causes a Dejerine-Sottas syndrome 106
Nerve ultrasound findings differentiate Charcot-Marie-Tooth disease (CMT) 1A from other demyelinating CMTs 105
Myelin protein zero Val102fs mutation manifesting with isolated spinal root hypertrophy. 102
Sporadic transthyretin amyloidosis with a novel TTR gene mutation misdiagnosed as primary amyloidosis. 102
Vascular endothelial growth factor helps differentiate neuropathies in rare plasma cell dyscrasias. 101
Peripheral neuropathy and 46XY gonadal dysgenesis: Confirmation of a heterogeneous entity. 99
Reply: Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot–Marie–Tooth disease 96
Very early onset of ATTRE89Q amyloidosis in a homozygous patient 95
Rare among rare: phenotypes of uncommon CMT genotypes 90
Early-onset hereditary neuropathy with liability to pressure palsy 88
TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature 88
Inherited motor-sensory neuropathy with upper limb predominance associated with the tropomyosin-receptor kinase fused gene 82
Nerve size correlates with clinical severity in Charcot–Marie–Tooth disease 1A 80
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy 61
Totale 8.431
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Categoria #
all - tutte 27.464
article - articoli 24.958
book - libri 0
conference - conferenze 2.506
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 54.928
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021121 0 0 0 0 0 0 0 0 0 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
2024/20251.154 67 68 39 199 63 55 83 28 149 58 101 244
2025/20263.239 249 204 296 610 896 232 276 146 212 118 0 0
Totale 8.431