CATALOGO DEI PRODOTTI DELLA RICERCA

TAIOLI, Federica
 Distribuzione geografica
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Continente #
NA - Nord America 2.850
EU - Europa 2.773
AS - Asia 1.654
SA - Sud America 281
AF - Africa 34
OC - Oceania 10
Continente sconosciuto - Info sul continente non disponibili 3
Totale 7.605
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Nazione #
US - Stati Uniti d'America 2.805
RU - Federazione Russa 1.085
SG - Singapore 719
CN - Cina 507
GB - Regno Unito 478
SE - Svezia 261
BR - Brasile 228
IT - Italia 199
FR - Francia 196
DE - Germania 151
HK - Hong Kong 140
IE - Irlanda 129
FI - Finlandia 122
VN - Vietnam 109
KR - Corea 67
BE - Belgio 36
UA - Ucraina 30
NL - Olanda 28
CA - Canada 27
AR - Argentina 25
IN - India 22
PL - Polonia 16
ID - Indonesia 15
IR - Iran 12
JP - Giappone 12
BD - Bangladesh 9
TR - Turchia 9
ZA - Sudafrica 9
MX - Messico 8
AT - Austria 6
AU - Australia 6
ES - Italia 6
IQ - Iraq 6
LT - Lituania 6
CL - Cile 5
CO - Colombia 5
DZ - Algeria 5
EG - Egitto 5
MA - Marocco 5
VE - Venezuela 5
CZ - Repubblica Ceca 4
EC - Ecuador 4
IL - Israele 4
EU - Europa 3
GR - Grecia 3
KZ - Kazakistan 3
NP - Nepal 3
PY - Paraguay 3
SA - Arabia Saudita 3
AZ - Azerbaigian 2
BO - Bolivia 2
CH - Svizzera 2
DK - Danimarca 2
DO - Repubblica Dominicana 2
ET - Etiopia 2
JM - Giamaica 2
KE - Kenya 2
ME - Montenegro 2
OM - Oman 2
PE - Perù 2
PK - Pakistan 2
PS - Palestinian Territory 2
RO - Romania 2
UY - Uruguay 2
UZ - Uzbekistan 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
GT - Guatemala 1
HR - Croazia 1
HU - Ungheria 1
JO - Giordania 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 7.605
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Città #
Southend 390
Singapore 370
Chandler 363
Moscow 340
Jacksonville 316
Woodbridge 302
Dallas 296
Ann Arbor 191
Ashburn 167
Hong Kong 140
Dublin 128
Beijing 81
New York 77
Verona 72
Wilmington 70
Houston 66
Lawrence 55
Princeton 55
Los Angeles 51
Jinan 47
Munich 41
The Dalles 41
Buffalo 30
Nanjing 30
Ho Chi Minh City 28
Sindelfingen 25
Hanoi 24
Kent 24
Redmond 24
Seoul 24
Shenyang 23
Hebei 22
Helsinki 21
Brussels 20
Falls Church 20
Changsha 19
Nanchang 19
Columbus 18
Council Bluffs 18
Santa Clara 18
Redondo Beach 17
Tianjin 17
Denver 16
São Paulo 16
Waanrode 16
Guangzhou 15
Ningbo 15
Turku 15
Milan 14
Hangzhou 13
Boardman 12
Taiyuan 12
Tokyo 12
Warsaw 12
Frankfurt am Main 11
Jakarta 11
Montreal 11
San Jose 11
Seattle 11
Zhengzhou 11
Chicago 10
Taizhou 10
Auburn Hills 9
Florence 9
London 9
San Francisco 9
Stockholm 9
Atlanta 8
Hải Dương 8
Bologna 7
Brooklyn 7
Chennai 7
Haikou 7
Jiaxing 7
Poplar 7
Boston 6
Detroit 6
Orem 6
Phoenix 6
Rio de Janeiro 6
Belo Horizonte 5
Cairo 5
Campinas 5
Clearwater 5
Da Nang 5
Johannesburg 5
Joinville 5
Kemerovo 5
Nuremberg 5
Toronto 5
Brasília 4
Dong Ket 4
Fairfield 4
Falkenstein 4
Fuzhou 4
Lancaster 4
Lanzhou 4
Lappeenranta 4
Manchester 4
Mexico City 4
Totale 4.577
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Nome #
Malattia di Charco-Marie-Tooth. Guida alla diagnosi molecolare. 219
Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene. 201
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy and right-to-left shunt: lack of evidence for an association in a prevalence study. 193
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 190
Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype. 184
Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene. 182
Congenital hypomyelination neuropathy with a novel mutation of PMP22 175
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 172
A novel LITAF/SIMPLE variant within a family with minimal demyelinating Charcot-Marie-Tooth disease. 172
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family. 171
Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B 169
Convergent pathological and ultrasound features in hereditary syndromic and non‐syndromic minifascicular neuropathy related to DHH 169
Aberrant splicing in GJB1 and the relevance of 5′ UTR in CMTX1 pathogenesis 167
Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene. 165
Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. 161
Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22 160
Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid neuropathy 160
Adult onset charcot-marie-tooth disease type 1D with an Arg381Cys mutation of EGR2. 159
X-linked dominant Charcot-Marie Tooth neuropathy: analysis of a pedigree with a novel mutation of connexin32 157
Clinical, electrophysiological and pathological findings of a patient with CMT2 due to the p.Ala738Val mitofusin 2 mutation. 154
Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0 153
A novel GJB1 mutation in an Italian patient with Charcot–Marie–Tooth disease and pyramidal signs. 153
CIDP, CMT1B, or CMT1B plus CIDP? 150
NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES 149
Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 Notch3 gene mutation 148
Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center 146
NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES 145
Gonosomal mosaicism of a novel heterozygous mutation of P0 causes Charcot-Marie-Tooth neuropathy type 1B with apparent autosomal recessive inheritance 144
Considerable post-partum worsening in a patient with CMT2E. 140
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience 140
PMP22 related congenital hypomyelination neuropathy 139
The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study 136
Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): pitfalls and red flags 135
Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene 132
Autonomic nervous system involvement in a new CMT2B family. 132
Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H. 130
Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I 125
Expression and regulation of glial-cell-line-derived neurotrophic factor (GDNF) mRNA in human astrocytes in vitro 123
Neuropathic pain in Charcot-Marie-Tooth Disease 116
Multiple sclerosis associated with duplicated CMT1A: a report of two cases 108
Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22 106
Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero 101
Novel mutation of the P0 extracellular domain causes a Dejerine-Sottas syndrome 99
Vascular endothelial growth factor helps differentiate neuropathies in rare plasma cell dyscrasias. 95
Sporadic transthyretin amyloidosis with a novel TTR gene mutation misdiagnosed as primary amyloidosis. 95
Peripheral neuropathy and 46XY gonadal dysgenesis: Confirmation of a heterogeneous entity. 95
Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry 90
Reply: Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot–Marie–Tooth disease 90
Myelin protein zero Val102fs mutation manifesting with isolated spinal root hypertrophy. 88
Nerve ultrasound findings differentiate Charcot-Marie-Tooth disease (CMT) 1A from other demyelinating CMTs 87
Very early onset of ATTRE89Q amyloidosis in a homozygous patient 85
Early-onset hereditary neuropathy with liability to pressure palsy 80
TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature 79
Rare among rare: phenotypes of uncommon CMT genotypes 74
Inherited motor-sensory neuropathy with upper limb predominance associated with the tropomyosin-receptor kinase fused gene 67
Nerve size correlates with clinical severity in Charcot–Marie–Tooth disease 1A 61
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy 51
Totale 7.667
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Categoria #
all - tutte 25.746
article - articoli 23.388
book - libri 0
conference - conferenze 2.358
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 51.492
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021292 0 0 0 0 0 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
2024/20251.154 67 68 39 199 63 55 83 28 149 58 101 244
2025/20262.475 249 204 296 610 896 220 0 0 0 0 0 0
Totale 7.667