CATALOGO DEI PRODOTTI DELLA RICERCA

FABRIZI, Gian Maria
 Distribuzione geografica
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Continente #
NA - Nord America 10.465
EU - Europa 9.285
AS - Asia 6.617
SA - Sud America 980
AF - Africa 165
OC - Oceania 24
Continente sconosciuto - Info sul continente non disponibili 13
Totale 27.549
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Nazione #
US - Stati Uniti d'America 10.320
RU - Federazione Russa 3.393
SG - Singapore 2.781
CN - Cina 1.959
GB - Regno Unito 1.752
IT - Italia 943
BR - Brasile 786
FR - Francia 713
SE - Svezia 661
HK - Hong Kong 585
VN - Vietnam 542
DE - Germania 504
FI - Finlandia 444
IE - Irlanda 422
KR - Corea 256
UA - Ucraina 119
IN - India 103
AR - Argentina 75
NL - Olanda 75
CA - Canada 71
BE - Belgio 61
BD - Bangladesh 56
ID - Indonesia 54
JP - Giappone 53
TR - Turchia 37
ZA - Sudafrica 36
MX - Messico 35
PL - Polonia 33
ES - Italia 32
IQ - Iraq 30
NG - Nigeria 29
CL - Cile 22
AT - Austria 19
CO - Colombia 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
MY - Malesia 11
EU - Europa 10
GR - Grecia 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
JM - Giamaica 7
JO - Giordania 7
AE - Emirati Arabi Uniti 6
BO - Bolivia 6
CH - Svizzera 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
CR - Costa Rica 5
MD - Moldavia 5
NO - Norvegia 5
PH - Filippine 5
SN - Senegal 5
TH - Thailandia 5
BY - Bielorussia 4
DK - Danimarca 4
ET - Etiopia 4
OM - Oman 4
TN - Tunisia 4
TT - Trinidad e Tobago 4
BB - Barbados 3
EE - Estonia 3
GT - Guatemala 3
LB - Libano 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
HN - Honduras 2
KW - Kuwait 2
LI - Liechtenstein 2
LU - Lussemburgo 2
ME - Montenegro 2
Totale 27.511
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Città #
Southend 1.499
Singapore 1.466
Jacksonville 1.090
Chandler 1.050
Ashburn 1.020
Moscow 996
Dallas 915
San Jose 849
Woodbridge 845
Hong Kong 581
Ann Arbor 502
Verona 428
Dublin 419
Houston 359
The Dalles 338
Beijing 331
Wilmington 204
Lawrence 198
Princeton 198
New York 194
Los Angeles 173
Ho Chi Minh City 172
Jinan 157
Hanoi 138
Nanjing 122
Shenyang 100
Munich 92
Buffalo 86
Hebei 83
Helsinki 75
Columbus 73
Redondo Beach 73
Sindelfingen 71
Tianjin 67
Santa Clara 65
Changsha 64
São Paulo 64
Redmond 58
Milan 56
Falls Church 53
Hangzhou 50
Turku 50
Council Bluffs 49
Orem 49
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
Jiaxing 35
Chicago 33
London 33
Brooklyn 32
Belo Horizonte 31
Seattle 31
Taizhou 31
Boardman 30
Chennai 30
Denver 29
Rio de Janeiro 29
Rome 29
Abuja 28
Florence 27
Warsaw 27
Montreal 25
Atlanta 23
San Francisco 23
Amsterdam 22
Stockholm 22
Bologna 21
Norwalk 21
Nuremberg 21
Johannesburg 20
Lappeenranta 20
Waanrode 20
Toronto 19
Fairfield 18
Redwood City 18
Boston 17
Lanzhou 17
Auburn Hills 16
Biên Hòa 16
Haiphong 16
Phoenix 16
Clearwater 15
Detroit 15
Paris 15
Riva 15
Falkenstein 14
Brasília 13
Dhaka 13
Fuzhou 13
Mexico City 13
Totale 17.002
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Nome #
Diagnosis of human prion disease using real-time quaking-induced conversion testing of olfactory mucosa and cerebrospinal fluid samples 242
Malattia di Charco-Marie-Tooth. Guida alla diagnosi molecolare. 233
A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: Phenotypical and genotypical characterization 226
A pan-european study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability and intermediate repeats. 221
An unusual transthyretin gene missense mutation (TTR Phe33Val) linked to familial amyloidotic polyneuropathy 217
Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene. 213
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy and right-to-left shunt: lack of evidence for an association in a prevalence study. 206
Autosomal dominant Alzheimer's disease with early frontal lobe involvement associated with the Met239Ile mutation of presenilin 2 gene. 205
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 204
Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype. 203
Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene. 199
Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). 194
A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's Disease and prominent cerebellar ataxia. 194
RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy 194
A novel de novo GFAP variant causes a juvenile-onset Alexander disease with bilateral vocal cord paralysis 193
Chapter 14 | Dysmyelinating neuropathies of infancy: defined and undefined forms 192
Aberrant splicing in GJB1 and the relevance of 5′ UTR in CMTX1 pathogenesis 189
Congenital hypomyelination neuropathy with a novel mutation of PMP22 188
Convergent pathological and ultrasound features in hereditary syndromic and non‐syndromic minifascicular neuropathy related to DHH 187
A novel LITAF/SIMPLE variant within a family with minimal demyelinating Charcot-Marie-Tooth disease. 186
Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E 185
Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. 185
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 184
Dysmyelinating neuropathies of infancy: defined and undefined forms 181
A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype. 181
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family. 180
Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B 180
Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. 178
Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid neuropathy 177
Anxiety and depression in Charcot-Marie-Tooth disease: data from the Italian CMT national registry 176
Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene. 176
Adult onset charcot-marie-tooth disease type 1D with an Arg381Cys mutation of EGR2. 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
Three-dimensional Structure of the Transthyretin (TTR) Phe64Leu Variant 170
X-linked dominant Charcot-Marie Tooth neuropathy: analysis of a pedigree with a novel mutation of connexin32 169
Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22 169
The Italian hemodilution trial in acute stroke. 168
CIDP, CMT1B, or CMT1B plus CIDP? 168
A novel GJB1 mutation in an Italian patient with Charcot–Marie–Tooth disease and pyramidal signs. 167
Clinical, electrophysiological and pathological findings of a patient with CMT2 due to the p.Ala738Val mitofusin 2 mutation. 166
Gonosomal mosaicism of a novel heterozygous mutation of P0 causes Charcot-Marie-Tooth neuropathy type 1B with apparent autosomal recessive inheritance 164
Guillain-Barré syndrome and COVID-19: an observational multicentre study from two Italian hotspot regions 164
Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0 163
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
Spinal arachnoid cyst as a cause of isolated, progressive, bilateral C5-C6 radiculopathy 163
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. 162
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience 161
Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy. 160
NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES 160
PMP22 related congenital hypomyelination neuropathy 159
Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 Notch3 gene mutation 159
Headache, seizures and repente strokes in a young subject: a new case of MELAS-like syndrome? 159
Progressive myoclonus epilepsy in congenital generalized lipodystrophy type 2: report of 3 cases and literature review 159
NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES 158
Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center 158
Peripheral nerve enlargement on nerve ultrasound parallels neuropathological changes in adult-onset Krabbe disease 157
ATTRv amyloidosis Italian Registry: clinical and epidemiological data 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
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. 155
The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study 155
Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities. 153
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. 152
Eterogeneità genetico molecolare della neuropatia ottica ereditaria di Leber 152
Purification and characterization of UDP-Gal: Ceramide Galactosyltransferase and recostitution of its activity by incorporation into liposomes. 152
Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): pitfalls and red flags 152
Considerable post-partum worsening in a patient with CMT2E. 150
Expanding the spectrum of genes responsible for hereditary motor neuropathies 149
EFFETTI DELL’ORTESI GAMBA-PIEDE NEI PAZIENTI AFFETTI DA MALATTIA DI CHARCOT-MARIE-TOOTH: ANALISI STRUMENTALE DEI PARAMETRI SPAZIO-TEMPORALI DELLA DEAMBULAZIONE 148
Haemodilution in acute stroke: results of the Italian haemodilution trial. 147
Charcot-Marie-Tooth disease: new insights from skin biopsy 147
Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy 146
Co-Occurrence of the C9ORF72 Expansion and a Novel GRN Mutation in a Family with Alternative Expression of Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. 145
Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase 145
Disorders of peripheral nerves 145
Aggressive treatment of severe acute cerebral venous thrombosis associated with oral contraceptives in young women 144
Patologia oculare nelle encefalo-neuro-miopatie genetiche mitocondriali. 144
Glycan-independent role of calnexin in the intracellular retention of Charcot-Marie-Tooth 1A Gas3/PMP22 mutants 143
Autonomic nervous system involvement in a new CMT2B family. 143
Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene 142
Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H. 142
Mitochondrial encephalo-neuro-myopathy with myoclonus epilepsy, basal nuclei calcification and hyperlactacidemia. 142
The strategy of investigating autistic syndrome in childhood. 142
hATTR pathology: nerve biopsy results from italian referral centers 142
Hereditary neuropathies, a pathological perspective 142
STUDIO RANDOMIZZATO CONTROLLATO PER LA VALUTAZIONE DEGLI EFFETTI DI UN NUOVO PROGRAMMA RIABILITATIVO NELLA NEUROPATIA DI CHARCOT MARIE TOOTH 1A 140
TBK1 mutation spectrum in an extended european patient cohort with frontotemporal dementia and amyotrophic lateral sclerosis 140
Association between inflammatory central nervous system lesions and Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome (CANVAS): a case series 140
Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZ gene 138
Neuropatie di Charcot-Marie-Tooth: inquadramento clinico e genetico. 138
I quadri neuropatologici delle sindromi paraneoplastiche 137
Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I 137
Charcot-Marie-Tooth type 2B: a new phenotype associated with a novel RAB7A mutation and inhibited EGFR degradation 137
STUDIO RANDOMIZZATO-CONTROLLATO PER LA VALUTAZIONE DEGLI EFFETTI DI UN NUOVO PROGRAMMA RIABILITATIVO NELLA NEUROPATIA DI CHARCOT MARIE TOOTH 1A 136
Serum vascular endothelial growth factor (VEGF) in the differential diagnosis of amyloid neuropathy and POEMS syndrome 135
Isolamento di cloni di cDNA per le subunità VIa e VIIa della Citocromo c ossidasi umana (COX). 134
Neuropathic pain in Charcot-Marie-Tooth Disease 133
SEIPIN S90L Mutation in an Italian family with CMT2/dHMN and pyramidal signs. 132
Sequence of a cDNA specifying subunit VIIa of human cytochrome c oxidase. 129
Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy 128
Totale 16.488
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Categoria #
all - tutte 92.488
article - articoli 79.071
book - libri 0
conference - conferenze 10.428
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 2.989
Totale 184.976
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021403 0 0 0 0 0 0 0 0 0 39 293 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
2025/202610.869 920 712 901 1.757 2.807 829 1.013 580 868 482 0 0
Totale 27.801