CATALOGO DEI PRODOTTI DELLA RICERCA

TAIOLI, Federica
 Distribuzione geografica
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Continente #
NA - Nord America 3.411
EU - Europa 2.883
AS - Asia 1.891
SA - Sud America 298
AF - Africa 50
OC - Oceania 10
Continente sconosciuto - Info sul continente non disponibili 3
Totale 8.546
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Nazione #
US - Stati Uniti d'America 3.353
RU - Federazione Russa 1.088
SG - Singapore 775
CN - Cina 534
GB - Regno Unito 491
IT - Italia 280
SE - Svezia 261
BR - Brasile 237
FR - Francia 198
VN - Vietnam 171
DE - Germania 154
HK - Hong Kong 147
IE - Irlanda 129
FI - Finlandia 122
KR - Corea 79
BD - Bangladesh 52
IN - India 38
BE - Belgio 36
CA - Canada 32
NL - Olanda 30
UA - Ucraina 30
AR - Argentina 26
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
VE - Venezuela 5
CZ - Repubblica Ceca 4
GR - Grecia 4
IL - Israele 4
JM - Giamaica 4
PK - Pakistan 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
PY - Paraguay 3
UZ - Uzbekistan 3
AZ - Azerbaigian 2
BO - Bolivia 2
CH - Svizzera 2
CR - Costa Rica 2
DK - Danimarca 2
ET - Etiopia 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
GT - Guatemala 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 8.546
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Città #
Singapore 414
Southend 390
Chandler 363
Moscow 340
Jacksonville 316
Woodbridge 302
Dallas 300
Ashburn 281
San Jose 247
Ann Arbor 191
Hong Kong 146
Verona 131
Dublin 128
New York 83
Beijing 81
The Dalles 79
Council Bluffs 72
Wilmington 70
Houston 67
Lawrence 55
Los Angeles 55
Princeton 55
Hanoi 48
Jinan 47
Ho Chi Minh City 45
Munich 42
Buffalo 33
Nanjing 30
Santa Clara 27
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
Guangzhou 18
Denver 17
Redondo Beach 17
São Paulo 17
Tianjin 17
Ningbo 16
Waanrode 16
Chennai 15
Milan 15
Turku 15
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
San Francisco 10
Taizhou 10
Abuja 9
Auburn Hills 9
Bologna 9
Florence 9
Stockholm 9
Hải Dương 8
Jiaxing 8
Poplar 8
Brooklyn 7
Haikou 7
Phoenix 7
Rome 7
Boston 6
Cairo 6
Da Nang 6
Detroit 6
Haiphong 6
Manchester 6
Rio de Janeiro 6
Toronto 6
Barnet 5
Belo Horizonte 5
Campinas 5
Clearwater 5
Johannesburg 5
Joinville 5
Kemerovo 5
Nuremberg 5
Thái Bình 5
Biên Hòa 4
Brasília 4
Charlotte 4
Delhi 4
Totale 5.248
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Nome #
Malattia di Charco-Marie-Tooth. Guida alla diagnosi molecolare. 236
Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene. 234
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. 206
Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype. 205
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 191
Congenital hypomyelination neuropathy with a novel mutation of PMP22 189
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 185
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
Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene. 180
Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. 180
Adult onset charcot-marie-tooth disease type 1D with an Arg381Cys mutation of EGR2. 177
X-linked dominant Charcot-Marie Tooth neuropathy: analysis of a pedigree with a novel mutation of connexin32 170
Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22 169
A novel GJB1 mutation in an Italian patient with Charcot–Marie–Tooth disease and pyramidal signs. 169
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
Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 Notch3 gene mutation 161
NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES 161
Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center 161
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience 161
PMP22 related congenital hypomyelination neuropathy 160
NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES 160
The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study 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 142
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 139
Neuropathic pain in Charcot-Marie-Tooth Disease 136
Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry 127
Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22 116
Multiple sclerosis associated with duplicated CMT1A: a report of two cases 114
Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero 114
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy 109
Novel mutation of the P0 extracellular domain causes a Dejerine-Sottas syndrome 108
Nerve ultrasound findings differentiate Charcot-Marie-Tooth disease (CMT) 1A from other demyelinating CMTs 107
Myelin protein zero Val102fs mutation manifesting with isolated spinal root hypertrophy. 103
Vascular endothelial growth factor helps differentiate neuropathies in rare plasma cell dyscrasias. 103
Sporadic transthyretin amyloidosis with a novel TTR gene mutation misdiagnosed as primary amyloidosis. 102
Peripheral neuropathy and 46XY gonadal dysgenesis: Confirmation of a heterogeneous entity. 101
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 96
TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature 91
Rare among rare: phenotypes of uncommon CMT genotypes 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 8.608
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Categoria #
all - tutte 29.042
article - articoli 26.410
book - libri 0
conference - conferenze 2.632
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 58.084
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2025/20263.416 249 204 296 610 896 232 276 146 212 128 68 99
Totale 8.608