FABRIZI, Gian Maria
 Distribuzione geografica
Continente #
NA - Nord America 6.234
EU - Europa 5.459
AS - Asia 2.448
SA - Sud America 54
AF - Africa 29
OC - Oceania 16
Continente sconosciuto - Info sul continente non disponibili 11
Totale 14.251
Nazione #
US - Stati Uniti d'America 6.213
GB - Regno Unito 1.645
CN - Cina 1.528
SG - Singapore 763
FR - Francia 661
SE - Svezia 642
RU - Federazione Russa 572
IT - Italia 560
IE - Irlanda 417
FI - Finlandia 367
DE - Germania 329
UA - Ucraina 103
BE - Belgio 58
NL - Olanda 41
BR - Brasile 37
KR - Corea 36
VN - Vietnam 27
ID - Indonesia 21
IN - India 16
CA - Canada 15
AU - Australia 14
IR - Iran 14
ES - Italia 10
EU - Europa 10
HK - Hong Kong 10
CL - Cile 9
TG - Togo 9
EG - Egitto 8
IL - Israele 8
JP - Giappone 8
MA - Marocco 7
LV - Lettonia 6
RO - Romania 6
MX - Messico 5
TR - Turchia 5
AT - Austria 4
CZ - Repubblica Ceca 4
LT - Lituania 4
AR - Argentina 3
CH - Svizzera 3
DK - Danimarca 3
EE - Estonia 3
NO - Norvegia 3
PL - Polonia 3
RS - Serbia 3
BO - Bolivia 2
GR - Grecia 2
KG - Kirghizistan 2
KZ - Kazakistan 2
MD - Moldavia 2
NZ - Nuova Zelanda 2
SA - Arabia Saudita 2
SC - Seychelles 2
TH - Thailandia 2
VE - Venezuela 2
ZA - Sudafrica 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AL - Albania 1
BA - Bosnia-Erzegovina 1
BD - Bangladesh 1
BY - Bielorussia 1
HR - Croazia 1
HU - Ungheria 1
IM - Isola di Man 1
JM - Giamaica 1
KH - Cambogia 1
LK - Sri Lanka 1
LU - Lussemburgo 1
MY - Malesia 1
PE - Perù 1
SK - Slovacchia (Repubblica Slovacca) 1
SN - Senegal 1
Totale 14.251
Città #
Southend 1.499
Jacksonville 1.089
Chandler 1.050
Woodbridge 845
Singapore 624
Ann Arbor 502
Dublin 415
Houston 346
Ashburn 272
Beijing 253
Wilmington 204
Lawrence 198
Princeton 198
Verona 196
Jinan 157
Nanjing 122
New York 113
Shenyang 99
Hebei 83
Sindelfingen 71
Changsha 62
Helsinki 58
Redmond 58
Tianjin 56
Falls Church 53
Hangzhou 48
Nanchang 48
Ningbo 45
Haikou 42
Milan 41
Zhengzhou 41
Brussels 38
Kent 38
Taiyuan 36
Guangzhou 35
Jiaxing 34
Seoul 34
Taizhou 31
Boardman 29
Los Angeles 29
Santa Clara 26
Seattle 24
Norwalk 21
Jakarta 20
Waanrode 20
Redwood City 18
Bologna 17
Fairfield 17
Florence 17
Lanzhou 17
Rome 17
Auburn Hills 16
Clearwater 15
Dallas 15
Detroit 15
Moscow 15
Riva 15
Chicago 14
Fuzhou 13
Kemerovo 12
Dong Ket 11
Lancaster 11
Hong Kong 10
Lappeenranta 10
Lomé 9
Toronto 9
Washington 9
Cairo 8
San Diego 8
Padova 7
Paris 7
Policoro 7
Belo Horizonte 6
Frankfurt am Main 6
London 6
Mehlingen 6
Munich 6
Novokuznetsk 6
Rio de Janeiro 6
San Francisco 6
Tokyo 6
Canberra 5
Edinburgh 5
Gorizia 5
Midelt 5
Sacramento 5
Amsterdam 4
Dongguan 4
Durango 4
Düsseldorf 4
Madrid 4
Newark 4
Shanghai 4
São Paulo 4
Tel Aviv 4
Turin 4
Vicenza 4
Arezzo 3
Bari 3
Belgrade 3
Totale 9.774
Nome #
Malattia di Charco-Marie-Tooth. Guida alla diagnosi molecolare. 148
Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene. 131
Diagnosis of human prion disease using real-time quaking-induced conversion testing of olfactory mucosa and cerebrospinal fluid samples 129
Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). 124
Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene. 121
RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy 119
An unusual transthyretin gene missense mutation (TTR Phe33Val) linked to familial amyloidotic polyneuropathy 118
Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype. 117
Three-dimensional Structure of the Transthyretin (TTR) Phe64Leu Variant 115
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 115
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family. 113
X-linked dominant Charcot-Marie Tooth neuropathy: analysis of a pedigree with a novel mutation of connexin32 113
Autosomal dominant Alzheimer's disease with early frontal lobe involvement associated with the Met239Ile mutation of presenilin 2 gene. 112
Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. 111
Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. 111
Congenital hypomyelination neuropathy with a novel mutation of PMP22 109
A pan-european study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability and intermediate repeats. 109
Gonosomal mosaicism of a novel heterozygous mutation of P0 causes Charcot-Marie-Tooth neuropathy type 1B with apparent autosomal recessive inheritance 108
Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B 108
Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E 108
PMP22 related congenital hypomyelination neuropathy 107
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy and right-to-left shunt: lack of evidence for an association in a prevalence study. 104
The Italian hemodilution trial in acute stroke. 104
Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene 102
EFFETTI DELL’ORTESI GAMBA-PIEDE NEI PAZIENTI AFFETTI DA MALATTIA DI CHARCOT-MARIE-TOOTH: ANALISI STRUMENTALE DEI PARAMETRI SPAZIO-TEMPORALI DELLA DEAMBULAZIONE 101
Convergent pathological and ultrasound features in hereditary syndromic and non‐syndromic minifascicular neuropathy related to DHH 101
Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZ gene 100
Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase 100
Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0 99
Dysmyelinating neuropathies of infancy: defined and undefined forms 99
Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy 98
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 96
Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene. 96
A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: Phenotypical and genotypical characterization 95
Headache, seizures and repente strokes in a young subject: a new case of MELAS-like syndrome? 95
Eterogeneità genetico molecolare della neuropatia ottica ereditaria di Leber 95
NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES 94
Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H. 93
Mitochondrial encephalo-neuro-myopathy with myoclonus epilepsy, basal nuclei calcification and hyperlactacidemia. 93
Haemodilution in acute stroke: results of the Italian haemodilution trial. 93
Chapter 14 | Dysmyelinating neuropathies of infancy: defined and undefined forms 93
NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES 93
Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22 91
A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype. 91
Purification and characterization of UDP-Gal: Ceramide Galactosyltransferase and recostitution of its activity by incorporation into liposomes. 90
I quadri neuropatologici delle sindromi paraneoplastiche 90
Sequence of a cDNA specifying subunit VIIc of human cytochrome c oxidase 89
Patologia oculare nelle encefalo-neuro-miopatie genetiche mitocondriali. 89
Progressive myoclonus epilepsy in congenital generalized lipodystrophy type 2: report of 3 cases and literature review 89
Disorders of peripheral nerves 89
Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy. 88
Glycan-independent role of calnexin in the intracellular retention of Charcot-Marie-Tooth 1A Gas3/PMP22 mutants 86
The strategy of investigating autistic syndrome in childhood. 84
Simultaneus occurence of spongiform encephalopathy in a man and his cat in Italy 84
Spinal arachnoid cyst as a cause of isolated, progressive, bilateral C5-C6 radiculopathy 83
SEIPIN S90L Mutation in an Italian family with CMT2/dHMN and pyramidal signs. 81
Neurocutaneous syndromes with pigmentary abnormalities and central nervous system involvement. II. Two cases with atypical incontinentia pigmenti. 80
Serum vascular endothelial growth factor (VEGF) in the differential diagnosis of amyloid neuropathy and POEMS syndrome 80
A novel LITAF/SIMPLE variant within a family with minimal demyelinating Charcot-Marie-Tooth disease. 80
Multiple sclerosis associated with duplicated CMT1A: a report of two cases 79
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. 79
Adult onset charcot-marie-tooth disease type 1D with an Arg381Cys mutation of EGR2. 79
Isolamento di cloni di cDNA per le subunità VIa e VIIa della Citocromo c ossidasi umana (COX). 79
A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's Disease and prominent cerebellar ataxia. 79
A somatic and germline mosaic mutation in MPZ/P0 mimics recessive inheritance of CMT1B 78
The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause a MERFF syndrome. 78
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. 78
Recombination via flanking direct repeats is a major casue of large-scale deletions of human mitochondrial DNA 78
Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid neuropathy 78
Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 Notch3 gene mutation 77
A novel GJB1 mutation in an Italian patient with Charcot–Marie–Tooth disease and pyramidal signs. 77
Guillain-Barré syndrome and COVID-19: an observational multicentre study from two Italian hotspot regions 77
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] 76
Late onset mitochondrial encephalo-neuro-myopathies 76
Triplet nucleotide repeats: the spinocerebellar ataxias. 75
Inter-nerves and intra-nerve conduction heterogeneity in CMTX with Arg(15)Gln mutation 75
Congenital lactic acidosis due to a defect of pyruvate dehydrogenase complex (E1). Clinical, biochemical, nerve biopsy study and effect of therapy. 75
L'enigma genetico della neuropatia ottica di Leber e della neurofibromatosi di Recklinghausen 75
The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study 75
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience 75
Clinical, electrophysiological and pathological findings of a patient with CMT2 due to the p.Ala738Val mitofusin 2 mutation. 74
Studio clinico, neuroradiologico e neuropatologico di due famiglie con arteriopatia cerebrale autosomica dominante. 74
Considerable post-partum worsening in a patient with CMT2E. 74
The TTR Italian Mutant: Iodine Effect on Protein Structure 73
Modificazioni del DNA mitocondriale nella neuropatia ottica di Leber. 73
Sequence of a cDNA specifying subunit VIIa of human cytochrome c oxidase. 73
STUDIO RANDOMIZZATO-CONTROLLATO PER LA VALUTAZIONE DEGLI EFFETTI DI UN NUOVO PROGRAMMA RIABILITATIVO NELLA NEUROPATIA DI CHARCOT MARIE TOOTH 1A 73
Infectious neuropathies 73
Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I 73
Aberrant splicing in GJB1 and the relevance of 5′ UTR in CMTX1 pathogenesis 73
Sequence of a cDNA specifying subunit VIa of human cytochrome c oxidase. 72
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. 72
Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities. 72
Patogenesi biochimica della malattia di Leber 71
TBK1 mutation spectrum in an extended european patient cohort with frontotemporal dementia and amyotrophic lateral sclerosis 71
Neuropatie di Charcot-Marie-Tooth: inquadramento clinico e genetico. 70
Autonomic nervous system involvement in a new CMT2B family. 70
Sporadic transthyretin amyloidosis with a novel TTR gene mutation misdiagnosed as primary amyloidosis. 69
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 69
Guidelines for the diagnosis of Charcot-Marie-Tooth disease and related neuropathies. 68
Totale 9.009
Categoria #
all - tutte 55.228
article - articoli 46.757
book - libri 0
conference - conferenze 6.650
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 1.821
Totale 110.456


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020887 0 0 0 0 0 0 184 130 79 181 105 208
2020/20211.643 122 270 67 123 182 175 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
2024/20251.648 246 267 136 639 207 106 47 0 0 0 0 0
Totale 14.496