CATALOGO DEI PRODOTTI DELLA RICERCA

FABRIZI, Gian Maria
 Distribuzione geografica
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Continente #
NA - Nord America 8.503
EU - Europa 8.376
AS - Asia 5.362
SA - Sud America 882
AF - Africa 103
OC - Oceania 22
Continente sconosciuto - Info sul continente non disponibili 12
Totale 23.260
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Nazione #
US - Stati Uniti d'America 8.398
RU - Federazione Russa 2.941
SG - Singapore 2.213
CN - Cina 1.812
GB - Regno Unito 1.708
BR - Brasile 731
FR - Francia 701
SE - Svezia 658
IT - Italia 657
HK - Hong Kong 543
DE - Germania 472
FI - Finlandia 431
IE - Irlanda 422
VN - Vietnam 301
KR - Corea 180
UA - Ucraina 113
NL - Olanda 63
AR - Argentina 62
BE - Belgio 58
IN - India 56
CA - Canada 55
ID - Indonesia 50
JP - Giappone 38
BD - Bangladesh 34
ZA - Sudafrica 29
PL - Polonia 28
ES - Italia 25
MX - Messico 22
TR - Turchia 20
CL - Cile 19
EC - Ecuador 17
IQ - Iraq 17
IR - Iran 17
AU - Australia 15
PY - Paraguay 15
AT - Austria 14
MA - Marocco 13
EG - Egitto 12
IL - Israele 12
LT - Lituania 11
VE - Venezuela 11
EU - Europa 10
BJ - Benin 9
CO - Colombia 9
PK - Pakistan 9
SA - Arabia Saudita 9
TG - Togo 9
UY - Uruguay 8
AZ - Azerbaigian 7
CZ - Repubblica Ceca 7
LV - Lettonia 7
RO - Romania 7
BO - Bolivia 6
DZ - Algeria 6
GR - Grecia 6
KE - Kenya 6
KZ - Kazakistan 6
UZ - Uzbekistan 6
DO - Repubblica Dominicana 5
HU - Ungheria 5
TH - Thailandia 5
AE - Emirati Arabi Uniti 4
AL - Albania 4
BY - Bielorussia 4
CH - Svizzera 4
DK - Danimarca 4
JM - Giamaica 4
KG - Kirghizistan 4
PE - Perù 4
SN - Senegal 4
TT - Trinidad e Tobago 4
BB - Barbados 3
CR - Costa Rica 3
EE - Estonia 3
ET - Etiopia 3
MD - Moldavia 3
NO - Norvegia 3
NP - Nepal 3
NZ - Nuova Zelanda 3
RS - Serbia 3
TN - Tunisia 3
BA - Bosnia-Erzegovina 2
HN - Honduras 2
JO - Giordania 2
LI - Liechtenstein 2
ME - Montenegro 2
MZ - Mozambico 2
OM - Oman 2
PR - Porto Rico 2
SC - Seychelles 2
SK - Slovacchia (Repubblica Slovacca) 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AF - Afghanistan, Repubblica islamica di 1
AM - Armenia 1
BG - Bulgaria 1
BS - Bahamas 1
CI - Costa d'Avorio 1
CY - Cipro 1
DM - Dominica 1
GE - Georgia 1
Totale 23.235
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Città #
Southend 1.499
Jacksonville 1.089
Chandler 1.050
Singapore 931
Dallas 912
Moscow 866
Woodbridge 845
Hong Kong 543
Ann Arbor 502
Ashburn 471
Dublin 419
Houston 358
Beijing 323
Verona 207
Wilmington 204
Lawrence 198
Princeton 198
New York 168
Jinan 157
Los Angeles 154
Nanjing 122
The Dalles 108
Ho Chi Minh City 101
Shenyang 100
Munich 91
Buffalo 83
Hebei 83
Columbus 73
Redondo Beach 73
Sindelfingen 71
Hanoi 66
Changsha 64
Helsinki 64
Tianjin 64
Redmond 58
Falls Church 53
São Paulo 53
Milan 51
Hangzhou 50
Santa Clara 50
Turku 50
Nanchang 48
Ningbo 45
Guangzhou 44
Seoul 43
Haikou 42
Zhengzhou 42
Brussels 38
Council Bluffs 38
Kent 38
Jakarta 37
Taiyuan 37
Jiaxing 34
Tokyo 32
Taizhou 31
Belo Horizonte 30
Boardman 30
Seattle 30
Brooklyn 29
Chicago 29
Rio de Janeiro 29
Florence 24
London 23
Warsaw 23
Rome 22
Denver 21
Norwalk 21
San Francisco 21
Waanrode 20
Nuremberg 19
Stockholm 19
Bologna 18
Frankfurt am Main 18
Johannesburg 18
Lappeenranta 18
Redwood City 18
Fairfield 17
Lanzhou 17
Atlanta 16
Auburn Hills 16
Boston 16
Montreal 16
Clearwater 15
Detroit 15
Phoenix 15
Riva 15
Toronto 15
Amsterdam 14
Falkenstein 14
Chennai 13
Fuzhou 13
Orem 13
Kemerovo 12
Brasília 11
Dong Ket 11
Lancaster 11
Biên Hòa 10
Cairo 10
Poplar 10
Ribeirão Preto 10
Totale 13.976
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Nome #
Malattia di Charco-Marie-Tooth. Guida alla diagnosi molecolare. 212
Diagnosis of human prion disease using real-time quaking-induced conversion testing of olfactory mucosa and cerebrospinal fluid samples 202
A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: Phenotypical and genotypical characterization 197
Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene. 194
A pan-european study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability and intermediate repeats. 190
An unusual transthyretin gene missense mutation (TTR Phe33Val) linked to familial amyloidotic polyneuropathy 185
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 184
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy and right-to-left shunt: lack of evidence for an association in a prevalence study. 184
Autosomal dominant Alzheimer's disease with early frontal lobe involvement associated with the Met239Ile mutation of presenilin 2 gene. 182
Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype. 176
Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene. 174
Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E 170
Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). 170
Congenital hypomyelination neuropathy with a novel mutation of PMP22 169
A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's Disease and prominent cerebellar ataxia. 169
RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy 168
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 167
Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. 166
Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B 163
Convergent pathological and ultrasound features in hereditary syndromic and non‐syndromic minifascicular neuropathy related to DHH 163
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family. 162
A novel LITAF/SIMPLE variant within a family with minimal demyelinating Charcot-Marie-Tooth disease. 160
Chapter 14 | Dysmyelinating neuropathies of infancy: defined and undefined forms 160
Aberrant splicing in GJB1 and the relevance of 5′ UTR in CMTX1 pathogenesis 160
A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype. 158
Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22 156
Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene. 155
Dysmyelinating neuropathies of infancy: defined and undefined forms 154
Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. 153
Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid neuropathy 151
Adult onset charcot-marie-tooth disease type 1D with an Arg381Cys mutation of EGR2. 150
Three-dimensional Structure of the Transthyretin (TTR) Phe64Leu Variant 149
Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0 148
Clinical, electrophysiological and pathological findings of a patient with CMT2 due to the p.Ala738Val mitofusin 2 mutation. 148
X-linked dominant Charcot-Marie Tooth neuropathy: analysis of a pedigree with a novel mutation of connexin32 146
A conserved sorting-associated protein is mutant in chorea-acanthocytosis 146
A somatic and germline mosaic mutation in MPZ/P0 mimics recessive inheritance of CMT1B 145
A novel GJB1 mutation in an Italian patient with Charcot–Marie–Tooth disease and pyramidal signs. 145
The Italian hemodilution trial in acute stroke. 144
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 144
Anxiety and depression in Charcot-Marie-Tooth disease: data from the Italian CMT national registry 143
A novel de novo GFAP variant causes a juvenile-onset Alexander disease with bilateral vocal cord paralysis 143
Spinal arachnoid cyst as a cause of isolated, progressive, bilateral C5-C6 radiculopathy 143
NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES 143
Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center 141
Gonosomal mosaicism of a novel heterozygous mutation of P0 causes Charcot-Marie-Tooth neuropathy type 1B with apparent autosomal recessive inheritance 139
NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES 139
CIDP, CMT1B, or CMT1B plus CIDP? 139
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. 138
Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy. 138
Guillain-Barré syndrome and COVID-19: an observational multicentre study from two Italian hotspot regions 138
Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 Notch3 gene mutation 137
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] 135
PMP22 related congenital hypomyelination neuropathy 134
Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities. 134
Considerable post-partum worsening in a patient with CMT2E. 132
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience 132
Headache, seizures and repente strokes in a young subject: a new case of MELAS-like syndrome? 131
Progressive myoclonus epilepsy in congenital generalized lipodystrophy type 2: report of 3 cases and literature review 131
Peripheral nerve enlargement on nerve ultrasound parallels neuropathological changes in adult-onset Krabbe disease 131
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. 130
Glycan-independent role of calnexin in the intracellular retention of Charcot-Marie-Tooth 1A Gas3/PMP22 mutants 129
EFFETTI DELL’ORTESI GAMBA-PIEDE NEI PAZIENTI AFFETTI DA MALATTIA DI CHARCOT-MARIE-TOOTH: ANALISI STRUMENTALE DEI PARAMETRI SPAZIO-TEMPORALI DELLA DEAMBULAZIONE 129
Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene 128
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. 128
Eterogeneità genetico molecolare della neuropatia ottica ereditaria di Leber 128
Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase 128
Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZ gene 126
Aggressive treatment of severe acute cerebral venous thrombosis associated with oral contraceptives in young women 126
Autonomic nervous system involvement in a new CMT2B family. 126
Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): pitfalls and red flags 126
The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study 125
Expanding the spectrum of genes responsible for hereditary motor neuropathies 125
ATTRv amyloidosis Italian Registry: clinical and epidemiological data 125
Purification and characterization of UDP-Gal: Ceramide Galactosyltransferase and recostitution of its activity by incorporation into liposomes. 124
Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H. 122
Haemodilution in acute stroke: results of the Italian haemodilution trial. 121
Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy 119
STUDIO RANDOMIZZATO CONTROLLATO PER LA VALUTAZIONE DEGLI EFFETTI DI UN NUOVO PROGRAMMA RIABILITATIVO NELLA NEUROPATIA DI CHARCOT MARIE TOOTH 1A 119
Mitochondrial encephalo-neuro-myopathy with myoclonus epilepsy, basal nuclei calcification and hyperlactacidemia. 118
Charcot-Marie-Tooth disease: new insights from skin biopsy 118
Patologia oculare nelle encefalo-neuro-miopatie genetiche mitocondriali. 117
TBK1 mutation spectrum in an extended european patient cohort with frontotemporal dementia and amyotrophic lateral sclerosis 117
Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I 117
Hereditary neuropathies, a pathological perspective 117
Association between inflammatory central nervous system lesions and Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome (CANVAS): a case series 117
STUDIO RANDOMIZZATO-CONTROLLATO PER LA VALUTAZIONE DEGLI EFFETTI DI UN NUOVO PROGRAMMA RIABILITATIVO NELLA NEUROPATIA DI CHARCOT MARIE TOOTH 1A 116
Disorders of peripheral nerves 116
SEIPIN S90L Mutation in an Italian family with CMT2/dHMN and pyramidal signs. 114
The strategy of investigating autistic syndrome in childhood. 114
Co-Occurrence of the C9ORF72 Expansion and a Novel GRN Mutation in a Family with Alternative Expression of Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. 114
I quadri neuropatologici delle sindromi paraneoplastiche 113
Charcot-Marie-Tooth type 2B: a new phenotype associated with a novel RAB7A mutation and inhibited EGFR degradation 112
hATTR pathology: nerve biopsy results from italian referral centers 112
Sequence of a cDNA specifying subunit VIIc of human cytochrome c oxidase 111
Serum vascular endothelial growth factor (VEGF) in the differential diagnosis of amyloid neuropathy and POEMS syndrome 111
Simultaneus occurence of spongiform encephalopathy in a man and his cat in Italy 111
Sequence of a cDNA specifying subunit VIIa of human cytochrome c oxidase. 110
Recombination via flanking direct repeats is a major casue of large-scale deletions of human mitochondrial DNA 108
Neuropatie di Charcot-Marie-Tooth: inquadramento clinico e genetico. 108
Totale 14.135
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Categoria #
all - tutte 83.806
article - articoli 71.701
book - libri 0
conference - conferenze 9.424
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 2.681
Totale 167.612
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.061 0 0 0 0 182 175 61 137 103 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
2025/20266.579 920 712 901 1.757 2.289 0 0 0 0 0 0 0
Totale 23.511