CATALOGO DEI PRODOTTI DELLA RICERCA

FERRARINI, Moreno
 Distribuzione geografica
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Continente #
EU - Europa 2.092
NA - Nord America 2.003
AS - Asia 1.180
SA - Sud America 184
AF - Africa 19
OC - Oceania 8
Continente sconosciuto - Info sul continente non disponibili 2
Totale 5.488
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Nazione #
US - Stati Uniti d'America 1.974
RU - Federazione Russa 756
CN - Cina 443
SG - Singapore 433
GB - Regno Unito 432
IT - Italia 197
SE - Svezia 156
BR - Brasile 146
FR - Francia 144
HK - Hong Kong 116
DE - Germania 100
FI - Finlandia 94
IE - Irlanda 91
VN - Vietnam 69
KR - Corea 45
UA - Ucraina 30
BE - Belgio 25
NL - Olanda 20
IN - India 17
CA - Canada 16
AR - Argentina 14
JP - Giappone 11
ZA - Sudafrica 9
ID - Indonesia 8
ES - Italia 7
PL - Polonia 7
AU - Australia 6
BD - Bangladesh 6
TR - Turchia 6
AT - Austria 5
CZ - Repubblica Ceca 5
IR - Iran 5
VE - Venezuela 5
AZ - Azerbaigian 4
BO - Bolivia 4
CL - Cile 4
EC - Ecuador 4
HU - Ungheria 4
IL - Israele 4
IQ - Iraq 4
GR - Grecia 3
JM - Giamaica 3
MX - Messico 3
RO - Romania 3
SA - Arabia Saudita 3
UY - Uruguay 3
BJ - Benin 2
CO - Colombia 2
DK - Danimarca 2
EG - Egitto 2
EU - Europa 2
LT - Lituania 2
NP - Nepal 2
TG - Togo 2
TT - Trinidad e Tobago 2
AF - Afghanistan, Repubblica islamica di 1
AL - Albania 1
BA - Bosnia-Erzegovina 1
BY - Bielorussia 1
CH - Svizzera 1
CR - Costa Rica 1
DO - Repubblica Dominicana 1
DZ - Algeria 1
EE - Estonia 1
GT - Guatemala 1
HR - Croazia 1
KE - Kenya 1
KG - Kirghizistan 1
KI - Kiribati 1
KN - Saint Kitts e Nevis 1
LV - Lettonia 1
MA - Marocco 1
ME - Montenegro 1
MY - Malesia 1
MZ - Mozambico 1
NZ - Nuova Zelanda 1
PE - Perù 1
PK - Pakistan 1
PR - Porto Rico 1
PY - Paraguay 1
SK - Slovacchia (Repubblica Slovacca) 1
Totale 5.488
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Città #
Southend 376
Chandler 298
Moscow 244
Dallas 238
Jacksonville 216
Woodbridge 188
Singapore 181
Hong Kong 116
Ann Arbor 114
Ashburn 113
Dublin 88
Beijing 75
Houston 75
Jinan 45
New York 45
Verona 45
Los Angeles 40
Lawrence 37
Princeton 37
Wilmington 35
Munich 27
Nanjing 27
Hebei 26
The Dalles 24
Ho Chi Minh City 22
Shenyang 22
Turku 21
Brussels 19
Columbus 19
Buffalo 18
Hanoi 18
Milan 18
Helsinki 17
Seoul 17
Guangzhou 15
Hangzhou 15
Haikou 14
Redmond 14
Sindelfingen 14
Changsha 13
Falls Church 13
Nanchang 13
Rome 13
Santa Clara 12
São Paulo 11
Kent 10
Ningbo 10
Redondo Beach 10
Zhengzhou 10
Belo Horizonte 9
Taiyuan 9
Taizhou 9
Boardman 8
Chicago 8
Florence 8
Lancaster 8
Seattle 8
Tianjin 8
Tokyo 8
Brooklyn 7
Denver 7
Frankfurt am Main 7
Policoro 7
Auburn Hills 6
Council Bluffs 6
Detroit 6
Jakarta 6
Jiaxing 6
Johannesburg 6
Rio de Janeiro 6
Waanrode 6
Bologna 5
Chennai 5
Gorizia 5
Joinville 5
London 5
Montreal 5
Redwood City 5
San Francisco 5
Stockholm 5
Toronto 5
Warsaw 5
Ankara 4
Atlanta 4
Baku 4
Biên Hòa 4
Boston 4
Budapest 4
Lappeenranta 4
Nuremberg 4
Phoenix 4
Riva 4
Brno 3
Castelfidardo 3
Falkenstein 3
Hải Dương 3
La Paz 3
Lanzhou 3
Montevideo 3
Norwalk 3
Totale 3.366
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Nome #
Malattia di Charco-Marie-Tooth. Guida alla diagnosi molecolare. 212
A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: Phenotypical and genotypical characterization 197
An unusual transthyretin gene missense mutation (TTR Phe33Val) linked to familial amyloidotic polyneuropathy 185
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy and right-to-left shunt: lack of evidence for an association in a prevalence study. 183
Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype. 176
Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E 170
Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). 170
Congenital hypomyelination neuropathy with a novel mutation of PMP22 169
A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's Disease and prominent cerebellar ataxia. 169
RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy 167
Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. 166
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family. 162
Chapter 14 | Dysmyelinating neuropathies of infancy: defined and undefined forms 159
A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype. 158
Dysmyelinating neuropathies of infancy: defined and undefined forms 153
Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. 153
Three-dimensional Structure of the Transthyretin (TTR) Phe64Leu Variant 149
A somatic and germline mosaic mutation in MPZ/P0 mimics recessive inheritance of CMT1B 145
Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center 141
Gonosomal mosaicism of a novel heterozygous mutation of P0 causes Charcot-Marie-Tooth neuropathy type 1B with apparent autosomal recessive inheritance 139
PMP22 related congenital hypomyelination neuropathy 134
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience 132
Progressive myoclonus epilepsy in congenital generalized lipodystrophy type 2: report of 3 cases and literature review 131
Glycan-independent role of calnexin in the intracellular retention of Charcot-Marie-Tooth 1A Gas3/PMP22 mutants 129
Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene 128
Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): pitfalls and red flags 126
The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study 125
Expanding the spectrum of genes responsible for hereditary motor neuropathies 125
Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I 117
Association between inflammatory central nervous system lesions and Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome (CANVAS): a case series 117
SEIPIN S90L Mutation in an Italian family with CMT2/dHMN and pyramidal signs. 114
Inter-nerves and intra-nerve conduction heterogeneity in CMTX with Arg(15)Gln mutation 103
The TTR Italian Mutant: Iodine Effect on Protein Structure 98
Vascular endothelial growth factor helps differentiate neuropathies in rare plasma cell dyscrasias. 90
Clinical and pathology characterization of small nerve fiber neuro(no)pathy in cerebellar ataxia with neuropathy and vestibular areflexia syndrome 87
Nerve ultrasound findings differentiate Charcot-Marie-Tooth disease (CMT) 1A from other demyelinating CMTs 85
Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry 82
A progranulin gene deletion in frontotemporal lobar degeneration with corticobasal syndrome in a TREDEM case report 76
Rare among rare: phenotypes of uncommon CMT genotypes 70
Nerve size correlates with clinical severity in Charcot–Marie–Tooth disease 1A 58
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy 47
Nerve ultrasound in CANVAS-spectrum disease: Reduced nerve size distinguishes genetically confirmed CANVAS from other axonal polyneuropathies 46
Totale 5.543
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Categoria #
all - tutte 18.564
article - articoli 15.875
book - libri 0
conference - conferenze 1.735
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 954
Totale 37.128
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021228 0 0 0 0 29 33 12 26 21 16 77 14
2021/2022395 58 107 7 37 14 17 8 12 8 10 39 78
2022/2023745 45 80 60 162 65 170 9 45 81 7 13 8
2023/2024317 18 31 18 26 42 48 7 11 4 34 50 28
2024/2025935 62 55 49 128 37 40 57 32 127 61 88 199
2025/20261.607 185 170 221 449 582 0 0 0 0 0 0 0
Totale 5.543