CATALOGO DEI PRODOTTI DELLA RICERCA

FABRIZI, Gian Maria
 Distribuzione geografica
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Continente #
NA - Nord America 10.876
EU - Europa 9.372
AS - Asia 6.749
SA - Sud America 994
AF - Africa 165
OC - Oceania 24
Continente sconosciuto - Info sul continente non disponibili 13
Totale 28.193
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Nazione #
US - Stati Uniti d'America 10.713
RU - Federazione Russa 3.393
SG - Singapore 2.798
CN - Cina 1.966
GB - Regno Unito 1.755
IT - Italia 1.020
BR - Brasile 796
FR - Francia 714
SE - Svezia 661
HK - Hong Kong 588
VN - Vietnam 542
DE - Germania 504
FI - Finlandia 444
IE - Irlanda 424
KR - Corea 257
BD - Bangladesh 159
UA - Ucraina 119
IN - India 104
CA - Canada 79
AR - Argentina 76
NL - Olanda 76
BE - Belgio 61
ID - Indonesia 54
JP - Giappone 53
MX - Messico 37
TR - Turchia 37
ZA - Sudafrica 36
PL - Polonia 34
ES - Italia 33
IQ - Iraq 30
NG - Nigeria 29
CL - Cile 22
CO - Colombia 21
AT - Austria 19
EC - Ecuador 19
VE - Venezuela 19
MA - Marocco 18
AU - Australia 17
EG - Egitto 17
IR - Iran 17
PY - Paraguay 17
PK - Pakistan 16
SA - Arabia Saudita 15
LT - Lituania 14
IL - Israele 13
UZ - Uzbekistan 13
DZ - Algeria 11
GR - Grecia 11
MY - Malesia 11
EU - Europa 10
JM - Giamaica 10
KE - Kenya 10
RO - Romania 10
TG - Togo 10
UY - Uruguay 10
BJ - Benin 9
AL - Albania 8
AZ - Azerbaigian 8
LV - Lettonia 8
CZ - Repubblica Ceca 7
JO - Giordania 7
AE - Emirati Arabi Uniti 6
BO - Bolivia 6
CH - Svizzera 6
CR - Costa Rica 6
DO - Repubblica Dominicana 6
HR - Croazia 6
HU - Ungheria 6
KG - Kirghizistan 6
KZ - Kazakistan 6
NP - Nepal 6
PE - Perù 6
PS - Palestinian Territory 6
MD - Moldavia 5
NO - Norvegia 5
PH - Filippine 5
SN - Senegal 5
TH - Thailandia 5
BY - Bielorussia 4
DK - Danimarca 4
ET - Etiopia 4
HN - Honduras 4
OM - Oman 4
TN - Tunisia 4
TT - Trinidad e Tobago 4
BB - Barbados 3
EE - Estonia 3
GT - Guatemala 3
LB - Libano 3
NI - Nicaragua 3
NZ - Nuova Zelanda 3
PR - Porto Rico 3
RS - Serbia 3
SK - Slovacchia (Repubblica Slovacca) 3
BA - Bosnia-Erzegovina 2
CG - Congo 2
GE - Georgia 2
GY - Guiana 2
KW - Kuwait 2
LI - Liechtenstein 2
Totale 28.153
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Città #
Southend 1.499
Singapore 1.473
Jacksonville 1.090
Ashburn 1.051
Chandler 1.050
Moscow 996
Dallas 918
San Jose 889
Woodbridge 845
Hong Kong 584
Ann Arbor 502
Verona 429
Dublin 421
Houston 361
The Dalles 338
Beijing 333
Council Bluffs 247
New York 213
Wilmington 204
Lawrence 198
Princeton 198
Los Angeles 178
Ho Chi Minh City 172
Jinan 157
Hanoi 138
Nanjing 122
Shenyang 100
Munich 92
Buffalo 89
Hebei 83
Helsinki 75
Columbus 73
Redondo Beach 73
Santa Clara 72
Sindelfingen 71
Tianjin 67
São Paulo 66
Changsha 65
Milan 59
Redmond 58
Falls Church 53
Hangzhou 50
Orem 50
Turku 50
Nanchang 48
Guangzhou 47
Tokyo 47
Ningbo 46
Seoul 44
Haikou 42
Zhengzhou 42
Brussels 40
Frankfurt am Main 39
Jakarta 38
Kent 38
Taiyuan 37
Rome 36
Jiaxing 35
London 35
Brooklyn 33
Chicago 33
Belo Horizonte 31
Seattle 31
Taizhou 31
Boardman 30
Chennai 30
Denver 30
Rio de Janeiro 29
Abuja 28
Florence 28
Warsaw 27
Montreal 26
San Francisco 25
Atlanta 24
Bologna 23
Amsterdam 22
Stockholm 22
Norwalk 21
Nuremberg 21
Toronto 21
Johannesburg 20
Lappeenranta 20
Waanrode 20
Boston 19
Fairfield 18
Phoenix 18
Redwood City 18
Lanzhou 17
Auburn Hills 16
Biên Hòa 16
Haiphong 16
Clearwater 15
Detroit 15
Paris 15
Riva 15
Charlotte 14
Falkenstein 14
Mexico City 14
Brasília 13
Dhaka 13
Totale 17.358
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Nome #
Diagnosis of human prion disease using real-time quaking-induced conversion testing of olfactory mucosa and cerebrospinal fluid samples 245
Malattia di Charco-Marie-Tooth. Guida alla diagnosi molecolare. 236
Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene. 234
A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: Phenotypical and genotypical characterization 230
A pan-european study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability and intermediate repeats. 223
An unusual transthyretin gene missense mutation (TTR Phe33Val) linked to familial amyloidotic polyneuropathy 218
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
Autosomal dominant Alzheimer's disease with early frontal lobe involvement associated with the Met239Ile mutation of presenilin 2 gene. 208
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
Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). 200
A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's Disease and prominent cerebellar ataxia. 200
RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy 200
A novel de novo GFAP variant causes a juvenile-onset Alexander disease with bilateral vocal cord paralysis 197
Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase 195
Chapter 14 | Dysmyelinating neuropathies of infancy: defined and undefined forms 193
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
A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype. 189
Aberrant splicing in GJB1 and the relevance of 5′ UTR in CMTX1 pathogenesis 189
Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E 186
Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. 186
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
Dysmyelinating neuropathies of infancy: defined and undefined forms 183
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
Anxiety and depression in Charcot-Marie-Tooth disease: data from the Italian CMT national registry 178
Adult onset charcot-marie-tooth disease type 1D with an Arg381Cys mutation of EGR2. 177
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. 175
Three-dimensional Structure of the Transthyretin (TTR) Phe64Leu Variant 173
Are novel outcome measures for Charcot-Marie-Tooth disease sensitive to change? The 6-minute walk test and StepWatch™ Activity Monitor in a 12-month longitudinal study 173
X-linked dominant Charcot-Marie Tooth neuropathy: analysis of a pedigree with a novel mutation of connexin32 170
The Italian hemodilution trial in acute stroke. 170
STUDIO RANDOMIZZATO CONTROLLATO PER LA VALUTAZIONE DEGLI EFFETTI DI UN NUOVO PROGRAMMA RIABILITATIVO NELLA NEUROPATIA DI CHARCOT MARIE TOOTH 1A 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
Spinal arachnoid cyst as a cause of isolated, progressive, bilateral C5-C6 radiculopathy 165
Guillain-Barré syndrome and COVID-19: an observational multicentre study from two Italian hotspot regions 165
Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0 164
A conserved sorting-associated protein is mutant in chorea-acanthocytosis 163
A somatic and germline mosaic mutation in MPZ/P0 mimics recessive inheritance of CMT1B 163
Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy. 162
Eterogeneità genetico molecolare della neuropatia ottica ereditaria di Leber 162
Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 Notch3 gene mutation 161
Headache, seizures and repente strokes in a young subject: a new case of MELAS-like syndrome? 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
Progressive myoclonus epilepsy in congenital generalized lipodystrophy type 2: report of 3 cases and literature review 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
A gene specifying subunit VIII of human cytochrome c oxidase is localized to chromosome 11 and is expressed in both muscle and non-muscle tissues. 158
ATTRv amyloidosis Italian Registry: clinical and epidemiological data 158
Peripheral nerve enlargement on nerve ultrasound parallels neuropathological changes in adult-onset Krabbe disease 157
Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): pitfalls and red flags 156
A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): The study protocol [EudraCT no.: 2006-000032-27] 155
Purification and characterization of UDP-Gal: Ceramide Galactosyltransferase and recostitution of its activity by incorporation into liposomes. 155
Autosomal dominant limb girdle myopathy with ragged-red fibers and cardiomyopathy. A pedigree study by in vivo 31P-MR spectroscopy indicating a mutlisystem mitochondrial defect. 154
Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities. 153
Considerable post-partum worsening in a patient with CMT2E. 151
EFFETTI DELL’ORTESI GAMBA-PIEDE NEI PAZIENTI AFFETTI DA MALATTIA DI CHARCOT-MARIE-TOOTH: ANALISI STRUMENTALE DEI PARAMETRI SPAZIO-TEMPORALI DELLA DEAMBULAZIONE 151
Expanding the spectrum of genes responsible for hereditary motor neuropathies 151
Haemodilution in acute stroke: results of the Italian haemodilution trial. 149
Charcot-Marie-Tooth disease: new insights from skin biopsy 149
Aggressive treatment of severe acute cerebral venous thrombosis associated with oral contraceptives in young women 148
Co-Occurrence of the C9ORF72 Expansion and a Novel GRN Mutation in a Family with Alternative Expression of Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. 148
Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy 146
Patologia oculare nelle encefalo-neuro-miopatie genetiche mitocondriali. 146
hATTR pathology: nerve biopsy results from italian referral centers 146
Disorders of peripheral nerves 146
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
Hereditary neuropathies, a pathological perspective 145
Association between inflammatory central nervous system lesions and Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome (CANVAS): a case series 145
Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy 144
The strategy of investigating autistic syndrome in childhood. 144
Glycan-independent role of calnexin in the intracellular retention of Charcot-Marie-Tooth 1A Gas3/PMP22 mutants 143
Mitochondrial encephalo-neuro-myopathy with myoclonus epilepsy, basal nuclei calcification and hyperlactacidemia. 143
Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene 142
TBK1 mutation spectrum in an extended european patient cohort with frontotemporal dementia and amyotrophic lateral sclerosis 141
Neuropatie di Charcot-Marie-Tooth: inquadramento clinico e genetico. 140
Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I 139
Charcot-Marie-Tooth type 2B: a new phenotype associated with a novel RAB7A mutation and inhibited EGFR degradation 139
Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZ gene 138
Isolamento di cloni di cDNA per le subunità VIa e VIIa della Citocromo c ossidasi umana (COX). 138
I quadri neuropatologici delle sindromi paraneoplastiche 137
STUDIO RANDOMIZZATO-CONTROLLATO PER LA VALUTAZIONE DEGLI EFFETTI DI UN NUOVO PROGRAMMA RIABILITATIVO NELLA NEUROPATIA DI CHARCOT MARIE TOOTH 1A 136
Neuropathic pain in Charcot-Marie-Tooth Disease 136
Serum vascular endothelial growth factor (VEGF) in the differential diagnosis of amyloid neuropathy and POEMS syndrome 135
SEIPIN S90L Mutation in an Italian family with CMT2/dHMN and pyramidal signs. 132
Recombination via flanking direct repeats is a major casue of large-scale deletions of human mitochondrial DNA 131
Totale 16.823
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Categoria #
all - tutte 98.131
article - articoli 83.979
book - libri 0
conference - conferenze 11.006
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 3.146
Totale 196.262
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202171 0 0 0 0 0 0 0 0 0 0 0 71
2021/20221.651 183 508 29 108 64 68 24 89 60 40 156 322
2022/20233.096 233 280 315 557 291 709 41 201 337 27 58 47
2023/20241.341 59 132 91 130 173 205 44 115 13 75 209 95
2024/20254.084 246 267 136 639 207 106 221 159 613 296 365 829
2025/202611.513 920 712 901 1.757 2.807 829 1.013 580 868 523 203 400
Totale 28.445