CATALOGO DEI PRODOTTI DELLA RICERCA

TAIOLI, Federica
 Distribuzione geografica
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Continente #
NA - Nord America 2.731
EU - Europa 2.136
AS - Asia 1.424
SA - Sud America 242
AF - Africa 27
OC - Oceania 10
Continente sconosciuto - Info sul continente non disponibili 3
Totale 6.573
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Nazione #
US - Stati Uniti d'America 2.692
SG - Singapore 597
CN - Cina 484
GB - Regno Unito 473
RU - Federazione Russa 473
SE - Svezia 260
BR - Brasile 209
FR - Francia 196
IT - Italia 190
DE - Germania 149
HK - Hong Kong 139
IE - Irlanda 129
FI - Finlandia 122
KR - Corea 63
VN - Vietnam 50
BE - Belgio 36
UA - Ucraina 30
NL - Olanda 28
CA - Canada 26
IN - India 18
AR - Argentina 15
ID - Indonesia 13
IR - Iran 12
JP - Giappone 12
PL - Polonia 12
TR - Turchia 8
ZA - Sudafrica 8
AU - Australia 6
BD - Bangladesh 6
LT - Lituania 6
AT - Austria 5
EG - Egitto 5
ES - Italia 5
MX - Messico 5
CZ - Repubblica Ceca 4
EC - Ecuador 4
IL - Israele 4
MA - Marocco 4
CL - Cile 3
EU - Europa 3
GR - Grecia 3
IQ - Iraq 3
SA - Arabia Saudita 3
VE - Venezuela 3
CH - Svizzera 2
CO - Colombia 2
DK - Danimarca 2
DO - Repubblica Dominicana 2
DZ - Algeria 2
ET - Etiopia 2
JM - Giamaica 2
KZ - Kazakistan 2
ME - Montenegro 2
NP - Nepal 2
OM - Oman 2
PE - Perù 2
PK - Pakistan 2
RO - Romania 2
UY - Uruguay 2
AE - Emirati Arabi Uniti 1
AZ - Azerbaigian 1
BB - Barbados 1
BO - Bolivia 1
BY - Bielorussia 1
CI - Costa d'Avorio 1
DM - Dominica 1
HR - Croazia 1
HU - Ungheria 1
KE - Kenya 1
KN - Saint Kitts e Nevis 1
LV - Lettonia 1
MD - Moldavia 1
MK - Macedonia 1
MY - Malesia 1
NC - Nuova Caledonia 1
NZ - Nuova Zelanda 1
PG - Papua Nuova Guinea 1
PR - Porto Rico 1
PY - Paraguay 1
RS - Serbia 1
SN - Senegal 1
TG - Togo 1
TN - Tunisia 1
TO - Tonga 1
UG - Uganda 1
UZ - Uzbekistan 1
Totale 6.573
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Città #
Southend 390
Chandler 363
Jacksonville 316
Woodbridge 302
Dallas 296
Singapore 265
Ann Arbor 191
Hong Kong 139
Dublin 128
Ashburn 125
Moscow 96
Beijing 81
New York 72
Verona 72
Wilmington 70
Houston 66
Lawrence 55
Princeton 55
Jinan 47
Los Angeles 45
Munich 41
Nanjing 30
Buffalo 29
Sindelfingen 25
Kent 24
Redmond 24
Seoul 24
Shenyang 23
Hebei 22
Helsinki 21
The Dalles 21
Brussels 20
Falls Church 20
Changsha 19
Nanchang 19
Columbus 18
Council Bluffs 18
Redondo Beach 17
Santa Clara 17
São Paulo 16
Tianjin 16
Waanrode 16
Guangzhou 15
Ningbo 15
Turku 15
Milan 14
Hangzhou 13
Boardman 12
Taiyuan 12
Tokyo 12
Ho Chi Minh City 11
Zhengzhou 11
Chicago 10
Denver 10
Frankfurt am Main 10
Jakarta 10
Montreal 10
Seattle 10
Taizhou 10
Auburn Hills 9
Hanoi 9
London 9
San Francisco 9
Warsaw 9
Atlanta 8
Stockholm 8
Bologna 7
Chennai 7
Haikou 7
Jiaxing 7
Detroit 6
Florence 6
Phoenix 6
Cairo 5
Clearwater 5
Hải Dương 5
Johannesburg 5
Joinville 5
Kemerovo 5
Poplar 5
Rio de Janeiro 5
Toronto 5
Belo Horizonte 4
Boston 4
Brooklyn 4
Campinas 4
Dong Ket 4
Fairfield 4
Falkenstein 4
Fuzhou 4
Lancaster 4
Lanzhou 4
Lappeenranta 4
Norwalk 4
Nuremberg 4
Redwood City 4
Ankara 3
Canberra 3
Casablanca 3
Castelfidardo 3
Totale 4.074
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Nome #
Malattia di Charco-Marie-Tooth. Guida alla diagnosi molecolare. 197
Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene. 176
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 165
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy and right-to-left shunt: lack of evidence for an association in a prevalence study. 165
Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype. 160
Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene. 158
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 152
Congenital hypomyelination neuropathy with a novel mutation of PMP22 151
Convergent pathological and ultrasound features in hereditary syndromic and non‐syndromic minifascicular neuropathy related to DHH 151
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family. 149
Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B 146
A novel LITAF/SIMPLE variant within a family with minimal demyelinating Charcot-Marie-Tooth disease. 143
Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22 142
Aberrant splicing in GJB1 and the relevance of 5′ UTR in CMTX1 pathogenesis 140
Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid neuropathy 139
Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. 139
X-linked dominant Charcot-Marie Tooth neuropathy: analysis of a pedigree with a novel mutation of connexin32 138
Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene. 136
Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0 134
Adult onset charcot-marie-tooth disease type 1D with an Arg381Cys mutation of EGR2. 134
Clinical, electrophysiological and pathological findings of a patient with CMT2 due to the p.Ala738Val mitofusin 2 mutation. 133
Gonosomal mosaicism of a novel heterozygous mutation of P0 causes Charcot-Marie-Tooth neuropathy type 1B with apparent autosomal recessive inheritance 130
PMP22 related congenital hypomyelination neuropathy 128
NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES 126
Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center 126
Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 Notch3 gene mutation 125
A novel GJB1 mutation in an Italian patient with Charcot–Marie–Tooth disease and pyramidal signs. 124
Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene 123
NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES 121
Considerable post-partum worsening in a patient with CMT2E. 120
CIDP, CMT1B, or CMT1B plus CIDP? 120
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience 119
Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H. 116
Expression and regulation of glial-cell-line-derived neurotrophic factor (GDNF) mRNA in human astrocytes in vitro 112
The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study 110
Autonomic nervous system involvement in a new CMT2B family. 109
Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): pitfalls and red flags 109
Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I 103
Multiple sclerosis associated with duplicated CMT1A: a report of two cases 98
Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero 95
Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22 94
Novel mutation of the P0 extracellular domain causes a Dejerine-Sottas syndrome 92
Neuropathic pain in Charcot-Marie-Tooth Disease 89
Vascular endothelial growth factor helps differentiate neuropathies in rare plasma cell dyscrasias. 86
Sporadic transthyretin amyloidosis with a novel TTR gene mutation misdiagnosed as primary amyloidosis. 85
Peripheral neuropathy and 46XY gonadal dysgenesis: Confirmation of a heterogeneous entity. 85
Myelin protein zero Val102fs mutation manifesting with isolated spinal root hypertrophy. 84
Nerve ultrasound findings differentiate Charcot-Marie-Tooth disease (CMT) 1A from other demyelinating CMTs 81
Reply: Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot–Marie–Tooth disease 79
Very early onset of ATTRE89Q amyloidosis in a homozygous patient 76
TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature 72
Early-onset hereditary neuropathy with liability to pressure palsy 71
Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry 66
Rare among rare: phenotypes of uncommon CMT genotypes 64
Nerve size correlates with clinical severity in Charcot–Marie–Tooth disease 1A 55
Inherited motor-sensory neuropathy with upper limb predominance associated with the tropomyosin-receptor kinase fused gene 50
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy 44
Totale 6.635
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Categoria #
all - tutte 23.885
article - articoli 21.712
book - libri 0
conference - conferenze 2.173
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 47.770
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021335 0 0 0 0 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
2024/20251.154 67 68 39 199 63 55 83 28 149 58 101 244
2025/20261.443 249 204 296 610 84 0 0 0 0 0 0 0
Totale 6.635