CATALOGO DEI PRODOTTI DELLA RICERCA

FABRIZI, Gian Maria
 Distribuzione geografica
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Continente #
NA - Nord America 12.918
EU - Europa 9.548
AS - Asia 6.827
SA - Sud America 1.038
Continente sconosciuto - Info sul continente non disponibili 274
AF - Africa 167
OC - Oceania 24
Totale 30.796
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Nazione #
US - Stati Uniti d'America 12.566
RU - Federazione Russa 3.394
SG - Singapore 2.822
CN - Cina 1.985
GB - Regno Unito 1.769
IT - Italia 1.140
BR - Brasile 820
FR - Francia 716
SE - Svezia 663
HK - Hong Kong 593
VN - Vietnam 546
DE - Germania 506
FI - Finlandia 444
IE - Irlanda 424
KR - Corea 258
BD - Bangladesh 169
CA - Canada 163
UA - Ucraina 119
IN - India 107
AR - Argentina 79
NL - Olanda 76
BE - Belgio 61
ID - Indonesia 55
JP - Giappone 54
MX - Messico 41
ES - Italia 37
TR - Turchia 37
ZA - Sudafrica 36
LT - Lituania 35
PL - Polonia 35
CR - Costa Rica 31
CO - Colombia 30
IQ - Iraq 30
NG - Nigeria 29
VE - Venezuela 23
CL - Cile 22
EC - Ecuador 21
AT - Austria 19
MA - Marocco 18
PY - Paraguay 18
AU - Australia 17
EG - Egitto 17
GT - Guatemala 17
IR - Iran 17
NI - Nicaragua 17
SA - Arabia Saudita 17
JM - Giamaica 16
PK - Pakistan 16
IL - Israele 15
PR - Porto Rico 13
UZ - Uzbekistan 13
HN - Honduras 12
DZ - Algeria 11
GR - Grecia 11
MY - Malesia 11
RO - Romania 11
SV - El Salvador 11
TG - Togo 11
UY - Uruguay 11
EU - Europa 10
KE - Kenya 10
AE - Emirati Arabi Uniti 9
BJ - Benin 9
AL - Albania 8
AZ - Azerbaigian 8
CW - ???statistics.table.value.countryCode.CW??? 8
LV - Lettonia 8
TT - Trinidad e Tobago 8
CZ - Repubblica Ceca 7
DK - Danimarca 7
JO - Giordania 7
NP - Nepal 7
PS - Palestinian Territory 7
BO - Bolivia 6
CH - Svizzera 6
DO - Repubblica Dominicana 6
EE - Estonia 6
HR - Croazia 6
HU - Ungheria 6
KG - Kirghizistan 6
KZ - Kazakistan 6
PE - Perù 6
PH - Filippine 6
BB - Barbados 5
MD - Moldavia 5
NO - Norvegia 5
SN - Senegal 5
TH - Thailandia 5
BY - Bielorussia 4
ET - Etiopia 4
OM - Oman 4
TN - Tunisia 4
CG - Congo 3
GP - Guadalupe 3
LB - Libano 3
NZ - Nuova Zelanda 3
RS - Serbia 3
SK - Slovacchia (Repubblica Slovacca) 3
AG - Antigua e Barbuda 2
BA - Bosnia-Erzegovina 2
Totale 30.491
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Città #
Ashburn 1.598
Southend 1.499
Singapore 1.481
Jacksonville 1.095
San Jose 1.086
Chandler 1.050
Moscow 996
Dallas 946
Woodbridge 845
Hong Kong 589
Ann Arbor 502
Council Bluffs 435
Verona 430
Dublin 421
Houston 368
Beijing 341
The Dalles 338
New York 229
Wilmington 204
Lawrence 198
Princeton 198
Los Angeles 193
Ho Chi Minh City 174
Jinan 157
Hanoi 138
Nanjing 122
Santa Clara 114
Shenyang 100
Buffalo 93
Munich 92
Hebei 83
São Paulo 80
Columbus 75
Helsinki 75
Milan 75
Redondo Beach 73
Sindelfingen 71
Tianjin 67
Changsha 65
Redmond 58
Orem 55
Falls Church 53
Hangzhou 50
Turku 50
Nanchang 48
Tokyo 48
Guangzhou 47
Rome 47
Ningbo 46
Las Vegas 45
Seoul 45
Montreal 43
Haikou 42
Zhengzhou 42
Brussels 40
Chicago 40
Frankfurt am Main 39
Kent 39
Jakarta 38
Phoenix 38
Seattle 38
Atlanta 37
Brooklyn 37
Taiyuan 37
London 36
Toronto 36
Denver 35
Jiaxing 35
Belo Horizonte 31
Florence 31
Taizhou 31
Boardman 30
Chennai 30
Rio de Janeiro 29
San Francisco 29
Abuja 28
Bologna 28
Warsaw 28
San José 23
Stockholm 23
Vilnius 23
Amsterdam 22
Norwalk 22
Boston 21
Nuremberg 21
Detroit 20
Johannesburg 20
Lappeenranta 20
Naples 20
Waanrode 20
Fairfield 19
Redwood City 18
Lanzhou 17
Auburn Hills 16
Biên Hòa 16
Brasília 16
Charlotte 16
Haiphong 16
Managua 16
Washington 16
Totale 18.656
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Nome #
Malattia di Charco-Marie-Tooth. Guida alla diagnosi molecolare. 267
Diagnosis of human prion disease using real-time quaking-induced conversion testing of olfactory mucosa and cerebrospinal fluid samples 264
Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene. 243
A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: Phenotypical and genotypical characterization 242
A pan-european study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability and intermediate repeats. 233
An unusual transthyretin gene missense mutation (TTR Phe33Val) linked to familial amyloidotic polyneuropathy 225
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 221
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy and right-to-left shunt: lack of evidence for an association in a prevalence study. 220
Anxiety and depression in Charcot-Marie-Tooth disease: data from the Italian CMT national registry 217
Autosomal dominant Alzheimer's disease with early frontal lobe involvement associated with the Met239Ile mutation of presenilin 2 gene. 216
Chapter 14 | Dysmyelinating neuropathies of infancy: defined and undefined forms 216
Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype. 215
Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene. 215
A novel de novo GFAP variant causes a juvenile-onset Alexander disease with bilateral vocal cord paralysis 214
A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's Disease and prominent cerebellar ataxia. 208
RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy 208
Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). 207
Dysmyelinating neuropathies of infancy: defined and undefined forms 205
Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase 204
A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype. 202
A novel LITAF/SIMPLE variant within a family with minimal demyelinating Charcot-Marie-Tooth disease. 202
Convergent pathological and ultrasound features in hereditary syndromic and non‐syndromic minifascicular neuropathy related to DHH 202
Three-dimensional Structure of the Transthyretin (TTR) Phe64Leu Variant 201
Congenital hypomyelination neuropathy with a novel mutation of PMP22 199
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 199
Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E 198
Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. 195
Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. 194
Eterogeneità genetico molecolare della neuropatia ottica ereditaria di Leber 194
Aberrant splicing in GJB1 and the relevance of 5′ UTR in CMTX1 pathogenesis 193
Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene. 192
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family. 190
Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B 190
STUDIO RANDOMIZZATO CONTROLLATO PER LA VALUTAZIONE DEGLI EFFETTI DI UN NUOVO PROGRAMMA RIABILITATIVO NELLA NEUROPATIA DI CHARCOT MARIE TOOTH 1A 190
Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid neuropathy 189
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. 187
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 186
Neuropathic pain in Charcot-Marie-Tooth Disease 186
Adult onset charcot-marie-tooth disease type 1D with an Arg381Cys mutation of EGR2. 185
A somatic and germline mosaic mutation in MPZ/P0 mimics recessive inheritance of CMT1B 184
The Italian hemodilution trial in acute stroke. 184
Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22 180
Gonosomal mosaicism of a novel heterozygous mutation of P0 causes Charcot-Marie-Tooth neuropathy type 1B with apparent autosomal recessive inheritance 179
A novel GJB1 mutation in an Italian patient with Charcot–Marie–Tooth disease and pyramidal signs. 179
NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES 179
X-linked dominant Charcot-Marie Tooth neuropathy: analysis of a pedigree with a novel mutation of connexin32 178
CIDP, CMT1B, or CMT1B plus CIDP? 178
Headache, seizures and repente strokes in a young subject: a new case of MELAS-like syndrome? 177
PMP22 related congenital hypomyelination neuropathy 176
Guillain-Barré syndrome and COVID-19: an observational multicentre study from two Italian hotspot regions 175
Clinical, electrophysiological and pathological findings of a patient with CMT2 due to the p.Ala738Val mitofusin 2 mutation. 174
A conserved sorting-associated protein is mutant in chorea-acanthocytosis 173
Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 Notch3 gene mutation 173
Spinal arachnoid cyst as a cause of isolated, progressive, bilateral C5-C6 radiculopathy 173
Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0 172
Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy. 172
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience 172
Patologia oculare nelle encefalo-neuro-miopatie genetiche mitocondriali. 171
The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study 171
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. 170
Progressive myoclonus epilepsy in congenital generalized lipodystrophy type 2: report of 3 cases and literature review 169
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] 168
Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): pitfalls and red flags 168
Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center 168
Neuropatie di Charcot-Marie-Tooth: inquadramento clinico e genetico. 167
Peripheral nerve enlargement on nerve ultrasound parallels neuropathological changes in adult-onset Krabbe disease 167
NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES 166
ATTRv amyloidosis Italian Registry: clinical and epidemiological data 166
Co-Occurrence of the C9ORF72 Expansion and a Novel GRN Mutation in a Family with Alternative Expression of Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. 164
Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities. 164
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. 162
Charcot-Marie-Tooth disease: new insights from skin biopsy 162
The strategy of investigating autistic syndrome in childhood. 160
Purification and characterization of UDP-Gal: Ceramide Galactosyltransferase and recostitution of its activity by incorporation into liposomes. 159
Considerable post-partum worsening in a patient with CMT2E. 159
Disorders of peripheral nerves 158
EFFETTI DELL’ORTESI GAMBA-PIEDE NEI PAZIENTI AFFETTI DA MALATTIA DI CHARCOT-MARIE-TOOTH: ANALISI STRUMENTALE DEI PARAMETRI SPAZIO-TEMPORALI DELLA DEAMBULAZIONE 157
Expanding the spectrum of genes responsible for hereditary motor neuropathies 157
Hereditary neuropathies, a pathological perspective 157
Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy 156
Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H. 155
Autonomic nervous system involvement in a new CMT2B family. 155
Haemodilution in acute stroke: results of the Italian haemodilution trial. 155
Studio clinico, neuroradiologico e neuropatologico di due famiglie con arteriopatia cerebrale autosomica dominante. 154
I quadri neuropatologici delle sindromi paraneoplastiche 154
Association between inflammatory central nervous system lesions and Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome (CANVAS): a case series 154
Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy 153
Mitochondrial encephalo-neuro-myopathy with myoclonus epilepsy, basal nuclei calcification and hyperlactacidemia. 153
Glycan-independent role of calnexin in the intracellular retention of Charcot-Marie-Tooth 1A Gas3/PMP22 mutants 152
Aggressive treatment of severe acute cerebral venous thrombosis associated with oral contraceptives in young women 152
Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZ gene 151
hATTR pathology: nerve biopsy results from italian referral centers 151
Triplet nucleotide repeats: the spinocerebellar ataxias. 148
Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene 148
Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I 148
Charcot-Marie-Tooth type 2B: a new phenotype associated with a novel RAB7A mutation and inhibited EGFR degradation 147
TBK1 mutation spectrum in an extended european patient cohort with frontotemporal dementia and amyotrophic lateral sclerosis 146
Congenital lactic acidosis due to a defect of pyruvate dehydrogenase complex (E1). Clinical, biochemical, nerve biopsy study and effect of therapy. 145
Late onset mitochondrial encephalo-neuro-myopathies 145
SEIPIN S90L Mutation in an Italian family with CMT2/dHMN and pyramidal signs. 144
Totale 18.068
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Categoria #
all - tutte 108.221
article - articoli 92.647
book - libri 0
conference - conferenze 12.108
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 3.466
Totale 216.442
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022931 0 0 0 108 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
2026/20272.345 174 325 517 1.329 0 0 0 0 0 0 0 0
Totale 30.796