CATALOGO DEI PRODOTTI DELLA RICERCA

TAIOLI, Federica
 Distribuzione geografica
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Continente #
NA - Nord America 3.482
EU - Europa 2.889
AS - Asia 1.901
SA - Sud America 301
Continente sconosciuto - Info sul continente non disponibili 65
AF - Africa 50
OC - Oceania 10
Totale 8.698
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Nazione #
US - Stati Uniti d'America 3.419
RU - Federazione Russa 1.088
SG - Singapore 780
CN - Cina 538
GB - Regno Unito 491
IT - Italia 286
SE - Svezia 261
BR - Brasile 238
FR - Francia 198
VN - Vietnam 171
DE - Germania 154
HK - Hong Kong 148
IE - Irlanda 129
FI - Finlandia 122
KR - Corea 79
BD - Bangladesh 52
IN - India 38
BE - Belgio 36
CA - Canada 35
NL - Olanda 30
UA - Ucraina 30
AR - Argentina 27
PL - Polonia 16
ID - Indonesia 15
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
CO - Colombia 7
ES - Italia 7
LT - Lituania 7
MA - Marocco 7
AU - Australia 6
EG - Egitto 6
DZ - Algeria 5
EC - Ecuador 5
JM - Giamaica 5
VE - Venezuela 5
CZ - Repubblica Ceca 4
GR - Grecia 4
IL - Israele 4
PK - Pakistan 4
PY - Paraguay 4
RO - Romania 4
SA - Arabia Saudita 4
DO - Repubblica Dominicana 3
EU - Europa 3
KE - Kenya 3
KZ - Kazakistan 3
NP - Nepal 3
PE - Perù 3
PS - Palestinian Territory 3
UZ - Uzbekistan 3
AZ - Azerbaigian 2
BO - Bolivia 2
CH - Svizzera 2
CR - Costa Rica 2
DK - Danimarca 2
ET - Etiopia 2
GT - Guatemala 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
DM - Dominica 1
GE - Georgia 1
HN - Honduras 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
SV - El Salvador 1
TG - Togo 1
TN - Tunisia 1
TO - Tonga 1
UG - Uganda 1
Totale 8.636
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Città #
Singapore 414
Southend 390
Chandler 363
Moscow 340
Jacksonville 316
Woodbridge 302
Dallas 300
Ashburn 287
San Jose 251
Ann Arbor 191
Hong Kong 147
Verona 131
Dublin 128
New York 84
Beijing 81
The Dalles 79
Council Bluffs 72
Wilmington 70
Houston 68
Lawrence 55
Los Angeles 55
Princeton 55
Hanoi 48
Jinan 47
Ho Chi Minh City 45
Munich 42
Buffalo 34
Nanjing 30
Santa Clara 29
Sindelfingen 25
Kent 24
Redmond 24
Seoul 24
Shenyang 23
Hebei 22
Helsinki 21
Brussels 20
Falls Church 20
Changsha 19
Nanchang 19
Columbus 18
Denver 18
Guangzhou 18
Redondo Beach 17
São Paulo 17
Tianjin 17
Ningbo 16
Waanrode 16
Chennai 15
Milan 15
Turku 15
Hangzhou 13
Orem 13
Tokyo 13
Boardman 12
Bologna 12
Frankfurt am Main 12
Montreal 12
Seattle 12
Taiyuan 12
Warsaw 12
Atlanta 11
Jakarta 11
London 11
San Francisco 11
Zhengzhou 11
Chicago 10
Taizhou 10
Abuja 9
Auburn Hills 9
Florence 9
Phoenix 9
Stockholm 9
Brooklyn 8
Detroit 8
Hải Dương 8
Jiaxing 8
Poplar 8
Rome 8
Haikou 7
Toronto 7
Boston 6
Cairo 6
Da Nang 6
Haiphong 6
Manchester 6
Rio de Janeiro 6
Barnet 5
Belo Horizonte 5
Campinas 5
Clearwater 5
Johannesburg 5
Joinville 5
Kemerovo 5
Norwalk 5
Nuremberg 5
Thái Bình 5
Biên Hòa 4
Brasília 4
Charlotte 4
Totale 5.280
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Nome #
Malattia di Charco-Marie-Tooth. Guida alla diagnosi molecolare. 238
Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene. 235
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy and right-to-left shunt: lack of evidence for an association in a prevalence study. 209
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 207
Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype. 207
Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene. 203
A novel LITAF/SIMPLE variant within a family with minimal demyelinating Charcot-Marie-Tooth disease. 192
Convergent pathological and ultrasound features in hereditary syndromic and non‐syndromic minifascicular neuropathy related to DHH 192
Congenital hypomyelination neuropathy with a novel mutation of PMP22 190
Aberrant splicing in GJB1 and the relevance of 5′ UTR in CMTX1 pathogenesis 189
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 186
Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene. 184
Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. 183
Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B 182
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family. 180
Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid neuropathy 180
Adult onset charcot-marie-tooth disease type 1D with an Arg381Cys mutation of EGR2. 178
Neuropathic pain in Charcot-Marie-Tooth Disease 172
X-linked dominant Charcot-Marie Tooth neuropathy: analysis of a pedigree with a novel mutation of connexin32 171
Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22 171
A novel GJB1 mutation in an Italian patient with Charcot–Marie–Tooth disease and pyramidal signs. 171
CIDP, CMT1B, or CMT1B plus CIDP? 168
Clinical, electrophysiological and pathological findings of a patient with CMT2 due to the p.Ala738Val mitofusin 2 mutation. 167
Gonosomal mosaicism of a novel heterozygous mutation of P0 causes Charcot-Marie-Tooth neuropathy type 1B with apparent autosomal recessive inheritance 166
Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0 164
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience 163
Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 Notch3 gene mutation 162
NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES 162
NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES 161
The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study 161
Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center 161
PMP22 related congenital hypomyelination neuropathy 160
Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): pitfalls and red flags 156
Considerable post-partum worsening in a patient with CMT2E. 151
Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H. 145
Autonomic nervous system involvement in a new CMT2B family. 145
Expression and regulation of glial-cell-line-derived neurotrophic factor (GDNF) mRNA in human astrocytes in vitro 143
Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene 142
Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I 142
Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry 128
Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22 120
Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero 116
Multiple sclerosis associated with duplicated CMT1A: a report of two cases 115
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy 111
Nerve ultrasound findings differentiate Charcot-Marie-Tooth disease (CMT) 1A from other demyelinating CMTs 109
Novel mutation of the P0 extracellular domain causes a Dejerine-Sottas syndrome 108
Vascular endothelial growth factor helps differentiate neuropathies in rare plasma cell dyscrasias. 104
Myelin protein zero Val102fs mutation manifesting with isolated spinal root hypertrophy. 103
Sporadic transthyretin amyloidosis with a novel TTR gene mutation misdiagnosed as primary amyloidosis. 103
Peripheral neuropathy and 46XY gonadal dysgenesis: Confirmation of a heterogeneous entity. 101
Very early onset of ATTRE89Q amyloidosis in a homozygous patient 99
Reply: Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot–Marie–Tooth disease 96
Rare among rare: phenotypes of uncommon CMT genotypes 96
TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature 91
Early-onset hereditary neuropathy with liability to pressure palsy 90
Inherited motor-sensory neuropathy with upper limb predominance associated with the tropomyosin-receptor kinase fused gene 88
Nerve size correlates with clinical severity in Charcot–Marie–Tooth disease 1A 81
Totale 8.698
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Categoria #
all - tutte 29.967
article - articoli 27.280
book - libri 0
conference - conferenze 2.687
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 59.934
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022485 0 145 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
2025/20263.416 249 204 296 610 896 232 276 146 212 128 68 99
2026/202790 76 14 0 0 0 0 0 0 0 0 0 0
Totale 8.698