CATALOGO DEI PRODOTTI DELLA RICERCA

FERRARINI, Moreno
 Distribuzione geografica
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Continente #
NA - Nord America 1.403
EU - Europa 1.224
AS - Asia 404
OC - Oceania 7
SA - Sud America 7
Continente sconosciuto - Info sul continente non disponibili 2
AF - Africa 1
Totale 3.048
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Nazione #
US - Stati Uniti d'America 1.399
GB - Regno Unito 414
CN - Cina 332
IT - Italia 156
SE - Svezia 151
FR - Francia 127
IE - Irlanda 89
RU - Federazione Russa 77
FI - Finlandia 67
DE - Germania 58
SG - Singapore 34
UA - Ucraina 28
BE - Belgio 24
KR - Corea 14
NL - Olanda 12
AU - Australia 6
IN - India 6
IR - Iran 5
CA - Canada 4
CL - Cile 4
CZ - Repubblica Ceca 4
ES - Italia 4
HK - Hong Kong 4
IL - Israele 3
AR - Argentina 2
DK - Danimarca 2
EU - Europa 2
GR - Grecia 2
JP - Giappone 2
PL - Polonia 2
RO - Romania 2
AT - Austria 1
BD - Bangladesh 1
BR - Brasile 1
CH - Svizzera 1
EG - Egitto 1
HR - Croazia 1
LV - Lettonia 1
MY - Malesia 1
NZ - Nuova Zelanda 1
SK - Slovacchia (Repubblica Slovacca) 1
TR - Turchia 1
VN - Vietnam 1
Totale 3.048
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Città #
Southend 376
Chandler 298
Jacksonville 216
Woodbridge 188
Ann Arbor 114
Dublin 87
Houston 69
Ashburn 62
Beijing 56
Jinan 45
Verona 44
Lawrence 37
Princeton 37
Wilmington 35
New York 30
Nanjing 27
Hebei 26
Shenyang 22
Singapore 21
Brussels 18
Haikou 14
Hangzhou 14
Helsinki 14
Redmond 14
Sindelfingen 14
Falls Church 13
Nanchang 13
Seoul 13
Changsha 12
Guangzhou 11
Kent 10
Milan 10
Ningbo 10
Zhengzhou 10
Taiyuan 9
Taizhou 9
Boardman 8
Lancaster 8
Los Angeles 7
Policoro 7
Rome 7
Tianjin 7
Auburn Hills 6
Detroit 6
Jiaxing 6
Seattle 6
Waanrode 6
Bologna 5
Dallas 5
Gorizia 5
Redwood City 5
Chicago 4
Hong Kong 4
Riva 4
Toronto 4
Brno 3
Castelfidardo 3
Lanzhou 3
Norwalk 3
Pavia 3
Canberra 2
Castel Mella 2
Clearwater 2
Des Moines 2
Edinburgh 2
Florence 2
Kemerovo 2
Melbourne 2
Munich 2
Sacramento 2
San Diego 2
Saulxures-les-Nancy 2
Somma Vesuviana 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
Dhaka 1
Dongguan 1
Ergolding 1
Fairfield 1
Ferrara 1
Fuzhou 1
Genova 1
Henderson 1
Kashan 1
Kuala Lumpur 1
Lappeenranta 1
Lincoln 1
Londrina 1
Totale 2.180
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Nome #
Malattia di Charco-Marie-Tooth. Guida alla diagnosi molecolare. 140
Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). 119
An unusual transthyretin gene missense mutation (TTR Phe33Val) linked to familial amyloidotic polyneuropathy 111
Three-dimensional Structure of the Transthyretin (TTR) Phe64Leu Variant 111
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family. 107
Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype. 107
Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. 105
Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. 102
Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E 101
Gonosomal mosaicism of a novel heterozygous mutation of P0 causes Charcot-Marie-Tooth neuropathy type 1B with apparent autosomal recessive inheritance 99
PMP22 related congenital hypomyelination neuropathy 99
Congenital hypomyelination neuropathy with a novel mutation of PMP22 99
Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene 97
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy and right-to-left shunt: lack of evidence for an association in a prevalence study. 93
RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy 93
Dysmyelinating neuropathies of infancy: defined and undefined forms 92
A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: Phenotypical and genotypical characterization 88
A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype. 84
Chapter 14 | Dysmyelinating neuropathies of infancy: defined and undefined forms 84
Glycan-independent role of calnexin in the intracellular retention of Charcot-Marie-Tooth 1A Gas3/PMP22 mutants 81
Progressive myoclonus epilepsy in congenital generalized lipodystrophy type 2: report of 3 cases and literature review 81
SEIPIN S90L Mutation in an Italian family with CMT2/dHMN and pyramidal signs. 79
Inter-nerves and intra-nerve conduction heterogeneity in CMTX with Arg(15)Gln mutation 72
A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's Disease and prominent cerebellar ataxia. 72
The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study 71
The TTR Italian Mutant: Iodine Effect on Protein Structure 70
A somatic and germline mosaic mutation in MPZ/P0 mimics recessive inheritance of CMT1B 69
Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I 69
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience 67
Vascular endothelial growth factor helps differentiate neuropathies in rare plasma cell dyscrasias. 63
Expanding the spectrum of genes responsible for hereditary motor neuropathies 63
Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center 62
Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): pitfalls and red flags 53
Association between inflammatory central nervous system lesions and Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome (CANVAS): a case series 52
Nerve ultrasound findings differentiate Charcot-Marie-Tooth disease (CMT) 1A from other demyelinating CMTs 37
Nerve size correlates with clinical severity in Charcot–Marie–Tooth disease 1A 35
Rare among rare: phenotypes of uncommon CMT genotypes 35
Clinical and pathology characterization of small nerve fiber neuro(no)pathy in cerebellar ataxia with neuropathy and vestibular areflexia syndrome 16
Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry 11
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy 10
Totale 3.099
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Categoria #
all - tutte 9.893
article - articoli 8.308
book - libri 0
conference - conferenze 1.061
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 524
Totale 19.786
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020367 0 2 11 35 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
2024/202598 62 36 0 0 0 0 0 0 0 0 0 0
Totale 3.099