CATALOGO DEI PRODOTTI DELLA RICERCA

FERRARINI, Moreno
 Distribuzione geografica
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Continente #
NA - Nord America 1.434
EU - Europa 1.279
AS - Asia 539
SA - Sud America 9
OC - Oceania 7
AF - Africa 3
Continente sconosciuto - Info sul continente non disponibili 2
Totale 3.273
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Nazione #
US - Stati Uniti d'America 1.429
GB - Regno Unito 414
CN - Cina 366
IT - Italia 170
SE - Svezia 151
SG - Singapore 129
FR - Francia 127
RU - Federazione Russa 112
IE - Irlanda 89
FI - Finlandia 69
DE - Germania 58
UA - Ucraina 28
BE - Belgio 25
KR - Corea 14
NL - Olanda 12
IN - India 7
AU - Australia 6
IR - Iran 5
CA - Canada 4
CL - Cile 4
CZ - Repubblica Ceca 4
ES - Italia 4
HK - Hong Kong 4
ID - Indonesia 4
IL - Israele 4
AR - Argentina 2
BO - Bolivia 2
DK - Danimarca 2
EU - Europa 2
GR - Grecia 2
JP - Giappone 2
PL - Polonia 2
RO - Romania 2
TG - Togo 2
AT - Austria 1
BA - Bosnia-Erzegovina 1
BD - Bangladesh 1
BR - Brasile 1
CH - Svizzera 1
EE - Estonia 1
EG - Egitto 1
HR - Croazia 1
JM - Giamaica 1
LT - Lituania 1
LV - Lettonia 1
MY - Malesia 1
NZ - Nuova Zelanda 1
SK - Slovacchia (Repubblica Slovacca) 1
TR - Turchia 1
VN - Vietnam 1
Totale 3.273
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Città #
Southend 376
Chandler 298
Jacksonville 216
Woodbridge 188
Ann Arbor 114
Singapore 111
Dublin 87
Houston 69
Ashburn 66
Beijing 56
Jinan 45
Verona 44
Lawrence 37
Princeton 37
Wilmington 35
New York 30
Nanjing 27
Hebei 26
Shenyang 22
Brussels 19
Haikou 14
Hangzhou 14
Helsinki 14
Redmond 14
Sindelfingen 14
Falls Church 13
Guangzhou 13
Milan 13
Nanchang 13
Seoul 13
Changsha 12
Rome 11
Kent 10
Ningbo 10
Zhengzhou 10
Taiyuan 9
Taizhou 9
Boardman 8
Lancaster 8
Los Angeles 8
Policoro 7
Tianjin 7
Auburn Hills 6
Detroit 6
Florence 6
Jiaxing 6
Seattle 6
Waanrode 6
Bologna 5
Dallas 5
Gorizia 5
Redwood City 5
Santa Clara 5
Chicago 4
Hong Kong 4
Jakarta 4
Riva 4
Toronto 4
Brno 3
Castelfidardo 3
Lanzhou 3
Lappeenranta 3
Norwalk 3
Pavia 3
Canberra 2
Castel Mella 2
Clearwater 2
Des Moines 2
Edinburgh 2
Kemerovo 2
La Paz 2
Lomé 2
Melbourne 2
Munich 2
Sacramento 2
San Diego 2
Saulxures-les-Nancy 2
Somma Vesuviana 2
Tel Aviv 2
Tokyo 2
Torreglia 2
Vijayawada 2
Yicheng 2
Aarau 1
Aigaleo 1
Amsterdam 1
Auckland 1
Baracaldo 1
Berlin 1
Bratislava 1
Cairo 1
Civitavecchia 1
Dearborn 1
Delhi 1
Dhaka 1
Dongguan 1
Ergolding 1
Fairfield 1
Ferrara 1
Foshan 1
Totale 2.301
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Nome #
Malattia di Charco-Marie-Tooth. Guida alla diagnosi molecolare. 147
Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). 123
An unusual transthyretin gene missense mutation (TTR Phe33Val) linked to familial amyloidotic polyneuropathy 117
Three-dimensional Structure of the Transthyretin (TTR) Phe64Leu Variant 115
Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype. 115
RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy 114
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family. 112
Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. 110
Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. 110
Congenital hypomyelination neuropathy with a novel mutation of PMP22 107
Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E 107
Gonosomal mosaicism of a novel heterozygous mutation of P0 causes Charcot-Marie-Tooth neuropathy type 1B with apparent autosomal recessive inheritance 105
PMP22 related congenital hypomyelination neuropathy 105
Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene 101
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy and right-to-left shunt: lack of evidence for an association in a prevalence study. 100
Dysmyelinating neuropathies of infancy: defined and undefined forms 97
A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: Phenotypical and genotypical characterization 93
Chapter 14 | Dysmyelinating neuropathies of infancy: defined and undefined forms 92
A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype. 91
Progressive myoclonus epilepsy in congenital generalized lipodystrophy type 2: report of 3 cases and literature review 88
Glycan-independent role of calnexin in the intracellular retention of Charcot-Marie-Tooth 1A Gas3/PMP22 mutants 85
SEIPIN S90L Mutation in an Italian family with CMT2/dHMN and pyramidal signs. 81
A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's Disease and prominent cerebellar ataxia. 78
A somatic and germline mosaic mutation in MPZ/P0 mimics recessive inheritance of CMT1B 76
Inter-nerves and intra-nerve conduction heterogeneity in CMTX with Arg(15)Gln mutation 75
The TTR Italian Mutant: Iodine Effect on Protein Structure 73
The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study 73
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience 73
Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I 71
Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center 67
Vascular endothelial growth factor helps differentiate neuropathies in rare plasma cell dyscrasias. 66
Expanding the spectrum of genes responsible for hereditary motor neuropathies 66
Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): pitfalls and red flags 58
Association between inflammatory central nervous system lesions and Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome (CANVAS): a case series 58
Nerve ultrasound findings differentiate Charcot-Marie-Tooth disease (CMT) 1A from other demyelinating CMTs 40
Rare among rare: phenotypes of uncommon CMT genotypes 40
Nerve size correlates with clinical severity in Charcot–Marie–Tooth disease 1A 36
Clinical and pathology characterization of small nerve fiber neuro(no)pathy in cerebellar ataxia with neuropathy and vestibular areflexia syndrome 24
Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry 20
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy 13
Nerve ultrasound in CANVAS-spectrum disease: Reduced nerve size distinguishes genetically confirmed CANVAS from other axonal polyneuropathies 3
Totale 3.325
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Categoria #
all - tutte 11.276
article - articoli 9.514
book - libri 0
conference - conferenze 1.169
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 593
Totale 22.552
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020319 0 0 0 0 38 50 49 28 19 36 35 64
2020/2021368 36 55 24 25 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
2024/2025324 62 55 49 128 30 0 0 0 0 0 0 0
Totale 3.325