CATALOGO DEI PRODOTTI DELLA RICERCA

FABRIZI, Gian Maria
 Distribuzione geografica
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Continente #
NA - Nord America 11.274
EU - Europa 9.415
AS - Asia 6.798
SA - Sud America 1.006
Continente sconosciuto - Info sul continente non disponibili 265
AF - Africa 166
OC - Oceania 24
Totale 28.948
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Nazione #
US - Stati Uniti d'America 11.093
RU - Federazione Russa 3.393
SG - Singapore 2.814
CN - Cina 1.983
GB - Regno Unito 1.755
IT - Italia 1.057
BR - Brasile 802
FR - Francia 714
SE - Svezia 662
HK - Hong Kong 592
VN - Vietnam 543
DE - Germania 504
FI - Finlandia 444
IE - Irlanda 424
KR - Corea 258
BD - Bangladesh 166
UA - Ucraina 119
IN - India 105
CA - Canada 84
AR - Argentina 79
NL - Olanda 76
BE - Belgio 61
ID - Indonesia 54
JP - Giappone 53
MX - Messico 38
TR - Turchia 37
ES - Italia 36
ZA - Sudafrica 36
PL - Polonia 34
IQ - Iraq 30
NG - Nigeria 29
CO - Colombia 23
CL - Cile 22
AT - Austria 19
EC - Ecuador 19
VE - Venezuela 19
MA - Marocco 18
PY - Paraguay 18
AU - Australia 17
EG - Egitto 17
IR - Iran 17
PK - Pakistan 16
SA - Arabia Saudita 15
LT - Lituania 14
IL - Israele 13
UZ - Uzbekistan 13
DZ - Algeria 11
GR - Grecia 11
JM - Giamaica 11
MY - Malesia 11
TG - Togo 11
EU - Europa 10
KE - Kenya 10
RO - Romania 10
UY - Uruguay 10
BJ - Benin 9
AL - Albania 8
AZ - Azerbaigian 8
LV - Lettonia 8
CR - Costa Rica 7
CZ - Repubblica Ceca 7
JO - Giordania 7
NP - Nepal 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
PE - Perù 6
PH - Filippine 6
PS - Palestinian Territory 6
GT - Guatemala 5
HN - Honduras 5
MD - Moldavia 5
NO - Norvegia 5
SN - Senegal 5
TH - Thailandia 5
TT - Trinidad e Tobago 5
BB - Barbados 4
BY - Bielorussia 4
DK - Danimarca 4
ET - Etiopia 4
NI - Nicaragua 4
OM - Oman 4
TN - Tunisia 4
EE - Estonia 3
LB - Libano 3
NZ - Nuova Zelanda 3
PR - Porto Rico 3
RS - Serbia 3
SK - Slovacchia (Repubblica Slovacca) 3
AG - Antigua e Barbuda 2
BA - Bosnia-Erzegovina 2
CG - Congo 2
GE - Georgia 2
GY - Guiana 2
IM - Isola di Man 2
Totale 28.650
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Città #
Southend 1.499
Singapore 1.478
Jacksonville 1.091
Ashburn 1.067
Chandler 1.050
Moscow 996
Dallas 919
San Jose 893
Woodbridge 845
Hong Kong 588
Ann Arbor 502
Council Bluffs 435
Verona 429
Dublin 421
Houston 363
Beijing 340
The Dalles 338
New York 215
Wilmington 204
Lawrence 198
Princeton 198
Los Angeles 178
Ho Chi Minh City 173
Jinan 157
Hanoi 138
Nanjing 122
Shenyang 100
Munich 92
Buffalo 90
Santa Clara 89
Hebei 83
Helsinki 75
Columbus 73
Redondo Beach 73
Sindelfingen 71
São Paulo 68
Tianjin 67
Milan 66
Changsha 65
Redmond 58
Falls Church 53
Orem 51
Hangzhou 50
Turku 50
Nanchang 48
Guangzhou 47
Tokyo 47
Ningbo 46
Seoul 45
Haikou 42
Zhengzhou 42
Brussels 40
Frankfurt am Main 39
Kent 39
Rome 39
Jakarta 38
Taiyuan 37
Chicago 35
Jiaxing 35
London 35
Brooklyn 34
Seattle 33
Denver 32
Belo Horizonte 31
Taizhou 31
Boardman 30
Chennai 30
Phoenix 29
Rio de Janeiro 29
Abuja 28
Florence 28
Bologna 27
Montreal 27
Warsaw 27
San Francisco 26
Atlanta 25
Amsterdam 22
Norwalk 22
Stockholm 22
Toronto 22
Boston 21
Nuremberg 21
Johannesburg 20
Lappeenranta 20
Waanrode 20
Fairfield 19
Redwood City 18
Detroit 17
Lanzhou 17
Auburn Hills 16
Biên Hòa 16
Haiphong 16
Clearwater 15
Paris 15
Riva 15
Washington 15
Charlotte 14
Falkenstein 14
Mexico City 14
Brasília 13
Totale 17.656
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Nome #
Diagnosis of human prion disease using real-time quaking-induced conversion testing of olfactory mucosa and cerebrospinal fluid samples 248
Malattia di Charco-Marie-Tooth. Guida alla diagnosi molecolare. 239
Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene. 236
A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: Phenotypical and genotypical characterization 232
A pan-european study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability and intermediate repeats. 225
An unusual transthyretin gene missense mutation (TTR Phe33Val) linked to familial amyloidotic polyneuropathy 220
Autosomal dominant Alzheimer's disease with early frontal lobe involvement associated with the Met239Ile mutation of presenilin 2 gene. 211
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy and right-to-left shunt: lack of evidence for an association in a prevalence study. 210
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 208
Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype. 208
Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene. 204
A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's Disease and prominent cerebellar ataxia. 202
Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). 201
RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy 201
A novel de novo GFAP variant causes a juvenile-onset Alexander disease with bilateral vocal cord paralysis 200
Chapter 14 | Dysmyelinating neuropathies of infancy: defined and undefined forms 197
Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase 197
Convergent pathological and ultrasound features in hereditary syndromic and non‐syndromic minifascicular neuropathy related to DHH 194
A novel LITAF/SIMPLE variant within a family with minimal demyelinating Charcot-Marie-Tooth disease. 193
Congenital hypomyelination neuropathy with a novel mutation of PMP22 191
A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype. 190
Aberrant splicing in GJB1 and the relevance of 5′ UTR in CMTX1 pathogenesis 189
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 188
Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E 188
Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. 187
Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene. 186
Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. 185
Dysmyelinating neuropathies of infancy: defined and undefined forms 184
Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B 183
Anxiety and depression in Charcot-Marie-Tooth disease: data from the Italian CMT national registry 182
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family. 182
Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid neuropathy 181
Adult onset charcot-marie-tooth disease type 1D with an Arg381Cys mutation of EGR2. 180
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. 178
Three-dimensional Structure of the Transthyretin (TTR) Phe64Leu Variant 176
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 176
Eterogeneità genetico molecolare della neuropatia ottica ereditaria di Leber 175
The Italian hemodilution trial in acute stroke. 174
STUDIO RANDOMIZZATO CONTROLLATO PER LA VALUTAZIONE DEGLI EFFETTI DI UN NUOVO PROGRAMMA RIABILITATIVO NELLA NEUROPATIA DI CHARCOT MARIE TOOTH 1A 174
X-linked dominant Charcot-Marie Tooth neuropathy: analysis of a pedigree with a novel mutation of connexin32 173
Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22 173
Neuropathic pain in Charcot-Marie-Tooth Disease 173
A novel GJB1 mutation in an Italian patient with Charcot–Marie–Tooth disease and pyramidal signs. 172
CIDP, CMT1B, or CMT1B plus CIDP? 170
Clinical, electrophysiological and pathological findings of a patient with CMT2 due to the p.Ala738Val mitofusin 2 mutation. 169
Gonosomal mosaicism of a novel heterozygous mutation of P0 causes Charcot-Marie-Tooth neuropathy type 1B with apparent autosomal recessive inheritance 168
Spinal arachnoid cyst as a cause of isolated, progressive, bilateral C5-C6 radiculopathy 168
Guillain-Barré syndrome and COVID-19: an observational multicentre study from two Italian hotspot regions 168
A somatic and germline mosaic mutation in MPZ/P0 mimics recessive inheritance of CMT1B 166
Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0 165
A conserved sorting-associated protein is mutant in chorea-acanthocytosis 165
Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy. 165
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience 164
Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 Notch3 gene mutation 163
Headache, seizures and repente strokes in a young subject: a new case of MELAS-like syndrome? 163
NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES 163
NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES 163
The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study 163
PMP22 related congenital hypomyelination neuropathy 162
Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center 162
Progressive myoclonus epilepsy in congenital generalized lipodystrophy type 2: report of 3 cases and literature review 161
ATTRv amyloidosis Italian Registry: clinical and epidemiological data 159
Peripheral nerve enlargement on nerve ultrasound parallels neuropathological changes in adult-onset Krabbe disease 159
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] 158
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
Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): pitfalls and red flags 157
Purification and characterization of UDP-Gal: Ceramide Galactosyltransferase and recostitution of its activity by incorporation into liposomes. 156
Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities. 156
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. 155
Expanding the spectrum of genes responsible for hereditary motor neuropathies 154
Considerable post-partum worsening in a patient with CMT2E. 152
EFFETTI DELL’ORTESI GAMBA-PIEDE NEI PAZIENTI AFFETTI DA MALATTIA DI CHARCOT-MARIE-TOOTH: ANALISI STRUMENTALE DEI PARAMETRI SPAZIO-TEMPORALI DELLA DEAMBULAZIONE 152
Charcot-Marie-Tooth disease: new insights from skin biopsy 151
Haemodilution in acute stroke: results of the Italian haemodilution trial. 150
Co-Occurrence of the C9ORF72 Expansion and a Novel GRN Mutation in a Family with Alternative Expression of Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. 150
Disorders of peripheral nerves 150
Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy 149
Aggressive treatment of severe acute cerebral venous thrombosis associated with oral contraceptives in young women 149
Association between inflammatory central nervous system lesions and Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome (CANVAS): a case series 149
Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy 148
Hereditary neuropathies, a pathological perspective 148
Mitochondrial encephalo-neuro-myopathy with myoclonus epilepsy, basal nuclei calcification and hyperlactacidemia. 147
Patologia oculare nelle encefalo-neuro-miopatie genetiche mitocondriali. 147
The strategy of investigating autistic syndrome in childhood. 147
Autonomic nervous system involvement in a new CMT2B family. 147
hATTR pathology: nerve biopsy results from italian referral centers 147
Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H. 146
Neuropatie di Charcot-Marie-Tooth: inquadramento clinico e genetico. 145
Glycan-independent role of calnexin in the intracellular retention of Charcot-Marie-Tooth 1A Gas3/PMP22 mutants 144
Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene 143
TBK1 mutation spectrum in an extended european patient cohort with frontotemporal dementia and amyotrophic lateral sclerosis 143
Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I 142
Charcot-Marie-Tooth type 2B: a new phenotype associated with a novel RAB7A mutation and inhibited EGFR degradation 141
Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZ gene 139
Isolamento di cloni di cDNA per le subunità VIa e VIIa della Citocromo c ossidasi umana (COX). 139
I quadri neuropatologici delle sindromi paraneoplastiche 139
STUDIO RANDOMIZZATO-CONTROLLATO PER LA VALUTAZIONE DEGLI EFFETTI DI UN NUOVO PROGRAMMA RIABILITATIVO NELLA NEUROPATIA DI CHARCOT MARIE TOOTH 1A 138
SEIPIN S90L Mutation in an Italian family with CMT2/dHMN and pyramidal signs. 137
Serum vascular endothelial growth factor (VEGF) in the differential diagnosis of amyloid neuropathy and POEMS syndrome 136
Recombination via flanking direct repeats is a major casue of large-scale deletions of human mitochondrial DNA 133
Totale 17.094
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Categoria #
all - tutte 102.470
article - articoli 87.820
book - libri 0
conference - conferenze 11.391
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 3.259
Totale 204.940
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.468 0 508 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
2025/202611.519 920 712 901 1.757 2.807 829 1.013 580 868 523 203 406
2026/2027497 174 323 0 0 0 0 0 0 0 0 0 0
Totale 28.948