CATALOGO DEI PRODOTTI DELLA RICERCA

TAIOLI, Federica
 Distribuzione geografica
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Continente #
NA - Nord America 3.903
EU - Europa 2.907
AS - Asia 1.918
SA - Sud America 305
Continente sconosciuto - Info sul continente non disponibili 65
AF - Africa 51
OC - Oceania 10
Totale 9.159
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Nazione #
US - Stati Uniti d'America 3.826
RU - Federazione Russa 1.089
SG - Singapore 783
CN - Cina 543
GB - Regno Unito 497
IT - Italia 296
SE - Svezia 261
BR - Brasile 239
FR - Francia 198
VN - Vietnam 173
DE - Germania 154
HK - Hong Kong 149
IE - Irlanda 129
FI - Finlandia 122
KR - Corea 79
BD - Bangladesh 53
CA - Canada 40
IN - India 40
BE - Belgio 36
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
CO - Colombia 8
CR - Costa Rica 8
IQ - Iraq 8
AT - Austria 7
ES - Italia 7
JM - Giamaica 7
LT - Lituania 7
MA - Marocco 7
VE - Venezuela 7
AU - Australia 6
EG - Egitto 6
DZ - Algeria 5
EC - Ecuador 5
CZ - Repubblica Ceca 4
GR - Grecia 4
IL - Israele 4
PK - Pakistan 4
PS - Palestinian Territory 4
PY - Paraguay 4
RO - Romania 4
SA - Arabia Saudita 4
AE - Emirati Arabi Uniti 3
DO - Repubblica Dominicana 3
EU - Europa 3
GT - Guatemala 3
KE - Kenya 3
KZ - Kazakistan 3
NP - Nepal 3
PE - Perù 3
UZ - Uzbekistan 3
AZ - Azerbaigian 2
BO - Bolivia 2
CH - Svizzera 2
DK - Danimarca 2
ET - Etiopia 2
JO - Giordania 2
ME - Montenegro 2
OM - Oman 2
PH - Filippine 2
TG - Togo 2
UY - Uruguay 2
AL - Albania 1
BB - Barbados 1
BJ - Benin 1
BY - Bielorussia 1
CI - Costa d'Avorio 1
DM - Dominica 1
EE - Estonia 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
TN - Tunisia 1
TO - Tonga 1
UG - Uganda 1
Totale 9.097
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Città #
Singapore 414
Southend 390
Ashburn 386
Chandler 363
Moscow 340
Jacksonville 318
Dallas 305
San Jose 303
Woodbridge 302
Ann Arbor 191
Hong Kong 148
Verona 131
Dublin 128
Council Bluffs 125
New York 86
Beijing 84
The Dalles 79
Houston 71
Wilmington 70
Los Angeles 56
Lawrence 55
Princeton 55
Hanoi 48
Jinan 47
Ho Chi Minh City 46
Munich 42
Santa Clara 41
Buffalo 35
Nanjing 30
Sindelfingen 25
Kent 24
Redmond 24
Seoul 24
Shenyang 23
Hebei 22
Helsinki 21
Brussels 20
Falls Church 20
Changsha 19
Denver 19
Nanchang 19
Columbus 18
Guangzhou 18
Redondo Beach 17
São Paulo 17
Tianjin 17
Milan 16
Ningbo 16
Waanrode 16
Chennai 15
Turku 15
Atlanta 14
Hangzhou 13
Orem 13
Tokyo 13
Boardman 12
Bologna 12
Frankfurt am Main 12
Montreal 12
Phoenix 12
Seattle 12
Taiyuan 12
Warsaw 12
Chicago 11
Jakarta 11
London 11
San Francisco 11
Zhengzhou 11
Taizhou 10
Abuja 9
Auburn Hills 9
Detroit 9
Florence 9
Las Vegas 9
Rome 9
Stockholm 9
Brooklyn 8
Hải Dương 8
Jiaxing 8
Poplar 8
Annandale 7
Haikou 7
Manchester 7
Toronto 7
Boston 6
Cairo 6
Da Nang 6
Haiphong 6
Philadelphia 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
Totale 5.537
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Nome #
Malattia di Charco-Marie-Tooth. Guida alla diagnosi molecolare. 265
Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene. 241
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 219
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy and right-to-left shunt: lack of evidence for an association in a prevalence study. 217
Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype. 214
Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene. 214
A novel LITAF/SIMPLE variant within a family with minimal demyelinating Charcot-Marie-Tooth disease. 201
Convergent pathological and ultrasound features in hereditary syndromic and non‐syndromic minifascicular neuropathy related to DHH 201
Congenital hypomyelination neuropathy with a novel mutation of PMP22 198
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 195
Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. 193
Aberrant splicing in GJB1 and the relevance of 5′ UTR in CMTX1 pathogenesis 192
Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene. 191
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family. 188
Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B 188
Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid neuropathy 187
Adult onset charcot-marie-tooth disease type 1D with an Arg381Cys mutation of EGR2. 184
Neuropathic pain in Charcot-Marie-Tooth Disease 183
Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22 179
Gonosomal mosaicism of a novel heterozygous mutation of P0 causes Charcot-Marie-Tooth neuropathy type 1B with apparent autosomal recessive inheritance 178
A novel GJB1 mutation in an Italian patient with Charcot–Marie–Tooth disease and pyramidal signs. 178
X-linked dominant Charcot-Marie Tooth neuropathy: analysis of a pedigree with a novel mutation of connexin32 177
NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES 177
CIDP, CMT1B, or CMT1B plus CIDP? 177
PMP22 related congenital hypomyelination neuropathy 175
Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 Notch3 gene mutation 172
Clinical, electrophysiological and pathological findings of a patient with CMT2 due to the p.Ala738Val mitofusin 2 mutation. 172
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience 171
The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study 170
Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0 169
Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center 167
Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): pitfalls and red flags 166
NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES 165
Considerable post-partum worsening in a patient with CMT2E. 158
Autonomic nervous system involvement in a new CMT2B family. 154
Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H. 153
Expression and regulation of glial-cell-line-derived neurotrophic factor (GDNF) mRNA in human astrocytes in vitro 150
Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I 147
Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene 146
Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry 136
Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22 131
Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero 126
Multiple sclerosis associated with duplicated CMT1A: a report of two cases 121
Nerve ultrasound findings differentiate Charcot-Marie-Tooth disease (CMT) 1A from other demyelinating CMTs 119
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy 118
Vascular endothelial growth factor helps differentiate neuropathies in rare plasma cell dyscrasias. 113
Sporadic transthyretin amyloidosis with a novel TTR gene mutation misdiagnosed as primary amyloidosis. 112
Novel mutation of the P0 extracellular domain causes a Dejerine-Sottas syndrome 111
Myelin protein zero Val102fs mutation manifesting with isolated spinal root hypertrophy. 108
Very early onset of ATTRE89Q amyloidosis in a homozygous patient 107
Peripheral neuropathy and 46XY gonadal dysgenesis: Confirmation of a heterogeneous entity. 105
Reply: Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot–Marie–Tooth disease 101
Rare among rare: phenotypes of uncommon CMT genotypes 101
TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature 100
Early-onset hereditary neuropathy with liability to pressure palsy 98
Inherited motor-sensory neuropathy with upper limb predominance associated with the tropomyosin-receptor kinase fused gene 94
Nerve size correlates with clinical severity in Charcot–Marie–Tooth disease 1A 86
Totale 9.159
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Categoria #
all - tutte 31.596
article - articoli 28.767
book - libri 0
conference - conferenze 2.829
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 63.192
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022330 0 0 0 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
2026/2027551 76 89 186 200 0 0 0 0 0 0 0 0
Totale 9.159