CATALOGO DEI PRODOTTI DELLA RICERCA

FABRIZI, Gian Maria
 Distribuzione geografica
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Continente #
NA - Nord America 7.784
EU - Europa 5.895
AS - Asia 4.507
SA - Sud America 613
AF - Africa 65
OC - Oceania 22
Continente sconosciuto - Info sul continente non disponibili 11
Totale 18.897
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Nazione #
US - Stati Uniti d'America 7.716
SG - Singapore 1.882
GB - Regno Unito 1.678
CN - Cina 1.618
FR - Francia 699
SE - Svezia 648
IT - Italia 637
RU - Federazione Russa 583
BR - Brasile 546
HK - Hong Kong 535
DE - Germania 459
FI - Finlandia 427
IE - Irlanda 421
KR - Corea 156
UA - Ucraina 108
VN - Vietnam 96
BE - Belgio 58
NL - Olanda 56
IN - India 37
CA - Canada 36
BD - Bangladesh 26
ID - Indonesia 26
AR - Argentina 21
ES - Italia 21
IR - Iran 17
PL - Polonia 16
TR - Turchia 16
AU - Australia 15
JP - Giappone 15
AT - Austria 14
IQ - Iraq 14
MX - Messico 13
ZA - Sudafrica 13
MA - Marocco 12
IL - Israele 11
CL - Cile 10
EG - Egitto 10
EU - Europa 10
SA - Arabia Saudita 9
TG - Togo 9
VE - Venezuela 9
PK - Pakistan 8
CZ - Repubblica Ceca 7
EC - Ecuador 7
LT - Lituania 7
RO - Romania 7
GR - Grecia 6
LV - Lettonia 6
PY - Paraguay 6
UY - Uruguay 6
AZ - Azerbaigian 5
KE - Kenya 5
TH - Thailandia 5
UZ - Uzbekistan 5
BO - Bolivia 4
CH - Svizzera 4
DK - Danimarca 4
JM - Giamaica 4
KZ - Kazakistan 4
TT - Trinidad e Tobago 4
AL - Albania 3
BY - Bielorussia 3
EE - Estonia 3
ET - Etiopia 3
KG - Kirghizistan 3
MD - Moldavia 3
NO - Norvegia 3
NZ - Nuova Zelanda 3
RS - Serbia 3
TN - Tunisia 3
AE - Emirati Arabi Uniti 2
BA - Bosnia-Erzegovina 2
BB - Barbados 2
CO - Colombia 2
CR - Costa Rica 2
DZ - Algeria 2
JO - Giordania 2
ME - Montenegro 2
NP - Nepal 2
OM - Oman 2
PE - Perù 2
PR - Porto Rico 2
SC - Seychelles 2
SK - Slovacchia (Repubblica Slovacca) 2
SN - Senegal 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AF - Afghanistan, Repubblica islamica di 1
AM - Armenia 1
BS - Bahamas 1
CY - Cipro 1
GE - Georgia 1
GH - Ghana 1
GT - Guatemala 1
HN - Honduras 1
HR - Croazia 1
HU - Ungheria 1
IM - Isola di Man 1
KH - Cambogia 1
KI - Kiribati 1
KN - Saint Kitts e Nevis 1
Totale 18.882
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Città #
Southend 1.499
Jacksonville 1.089
Chandler 1.050
Singapore 869
Woodbridge 845
Dallas 795
Hong Kong 535
Ann Arbor 502
Dublin 418
Houston 349
Ashburn 306
Beijing 281
Verona 206
Wilmington 204
Lawrence 198
Princeton 198
Jinan 157
New York 138
Nanjing 122
The Dalles 107
Shenyang 100
Los Angeles 91
Munich 90
Hebei 83
Columbus 73
Sindelfingen 71
Changsha 64
Helsinki 64
Redmond 58
Tianjin 56
Falls Church 53
Hangzhou 49
Milan 49
Turku 49
Nanchang 48
Buffalo 46
Ningbo 45
Haikou 42
Santa Clara 41
Zhengzhou 41
Guangzhou 39
Brussels 38
Council Bluffs 38
Kent 38
Seoul 37
Taiyuan 36
Jiaxing 34
Taizhou 31
Boardman 30
São Paulo 29
Seattle 28
Redondo Beach 26
Belo Horizonte 24
Brooklyn 24
Chicago 24
Jakarta 23
Florence 21
Norwalk 21
Rome 21
San Francisco 20
Waanrode 20
Nuremberg 19
Rio de Janeiro 19
Bologna 18
Ho Chi Minh City 18
Redwood City 18
Fairfield 17
Frankfurt am Main 17
Hanoi 17
Lanzhou 17
Moscow 17
Auburn Hills 16
Clearwater 15
Detroit 15
Lappeenranta 15
Riva 15
Fuzhou 13
Toronto 13
Kemerovo 12
Dong Ket 11
Lancaster 11
London 11
Warsaw 11
Tokyo 10
Washington 10
Boston 9
Cairo 9
Lomé 9
Paris 9
Stockholm 9
Amsterdam 8
Campinas 8
Padova 8
San Diego 8
Johannesburg 7
Policoro 7
Ribeirão Preto 7
Vienna 7
Atlanta 6
Bexley 6
Totale 12.155
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Nome #
Malattia di Charco-Marie-Tooth. Guida alla diagnosi molecolare. 174
Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene. 161
An unusual transthyretin gene missense mutation (TTR Phe33Val) linked to familial amyloidotic polyneuropathy 155
Diagnosis of human prion disease using real-time quaking-induced conversion testing of olfactory mucosa and cerebrospinal fluid samples 155
Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene. 150
Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). 149
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 148
Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype. 146
A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: Phenotypical and genotypical characterization 145
Autosomal dominant Alzheimer's disease with early frontal lobe involvement associated with the Met239Ile mutation of presenilin 2 gene. 145
A pan-european study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability and intermediate repeats. 145
RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy 141
Congenital hypomyelination neuropathy with a novel mutation of PMP22 140
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family. 136
Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. 135
Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E 134
Three-dimensional Structure of the Transthyretin (TTR) Phe64Leu Variant 132
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy and right-to-left shunt: lack of evidence for an association in a prevalence study. 132
X-linked dominant Charcot-Marie Tooth neuropathy: analysis of a pedigree with a novel mutation of connexin32 129
Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. 127
The Italian hemodilution trial in acute stroke. 127
Convergent pathological and ultrasound features in hereditary syndromic and non‐syndromic minifascicular neuropathy related to DHH 125
Gonosomal mosaicism of a novel heterozygous mutation of P0 causes Charcot-Marie-Tooth neuropathy type 1B with apparent autosomal recessive inheritance 124
PMP22 related congenital hypomyelination neuropathy 124
Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0 124
Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B 124
A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype. 124
Dysmyelinating neuropathies of infancy: defined and undefined forms 123
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 122
Chapter 14 | Dysmyelinating neuropathies of infancy: defined and undefined forms 122
Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene. 121
Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene 120
Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZ gene 119
Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22 119
Eterogeneità genetico molecolare della neuropatia ottica ereditaria di Leber 118
A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's Disease and prominent cerebellar ataxia. 118
A novel LITAF/SIMPLE variant within a family with minimal demyelinating Charcot-Marie-Tooth disease. 117
A somatic and germline mosaic mutation in MPZ/P0 mimics recessive inheritance of CMT1B 116
Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid neuropathy 116
Headache, seizures and repente strokes in a young subject: a new case of MELAS-like syndrome? 116
EFFETTI DELL’ORTESI GAMBA-PIEDE NEI PAZIENTI AFFETTI DA MALATTIA DI CHARCOT-MARIE-TOOTH: ANALISI STRUMENTALE DEI PARAMETRI SPAZIO-TEMPORALI DELLA DEAMBULAZIONE 116
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 115
Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase 115
A conserved sorting-associated protein is mutant in chorea-acanthocytosis 114
Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy 112
Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H. 112
Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy. 112
NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES 112
Aberrant splicing in GJB1 and the relevance of 5′ UTR in CMTX1 pathogenesis 112
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. 111
Haemodilution in acute stroke: results of the Italian haemodilution trial. 111
NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES 109
Adult onset charcot-marie-tooth disease type 1D with an Arg381Cys mutation of EGR2. 108
Mitochondrial encephalo-neuro-myopathy with myoclonus epilepsy, basal nuclei calcification and hyperlactacidemia. 108
Considerable post-partum worsening in a patient with CMT2E. 108
Progressive myoclonus epilepsy in congenital generalized lipodystrophy type 2: report of 3 cases and literature review 108
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] 107
Patologia oculare nelle encefalo-neuro-miopatie genetiche mitocondriali. 107
CIDP, CMT1B, or CMT1B plus CIDP? 107
Anxiety and depression in Charcot-Marie-Tooth disease: data from the Italian CMT national registry 106
Glycan-independent role of calnexin in the intracellular retention of Charcot-Marie-Tooth 1A Gas3/PMP22 mutants 106
SEIPIN S90L Mutation in an Italian family with CMT2/dHMN and pyramidal signs. 106
A novel GJB1 mutation in an Italian patient with Charcot–Marie–Tooth disease and pyramidal signs. 106
Purification and characterization of UDP-Gal: Ceramide Galactosyltransferase and recostitution of its activity by incorporation into liposomes. 106
Disorders of peripheral nerves 105
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. 104
Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities. 104
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. 103
Sequence of a cDNA specifying subunit VIIc of human cytochrome c oxidase 103
Spinal arachnoid cyst as a cause of isolated, progressive, bilateral C5-C6 radiculopathy 103
I quadri neuropatologici delle sindromi paraneoplastiche 102
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience 102
Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 Notch3 gene mutation 101
The strategy of investigating autistic syndrome in childhood. 101
Clinical, electrophysiological and pathological findings of a patient with CMT2 due to the p.Ala738Val mitofusin 2 mutation. 100
Simultaneus occurence of spongiform encephalopathy in a man and his cat in Italy 100
Sequence of a cDNA specifying subunit VIIa of human cytochrome c oxidase. 99
Serum vascular endothelial growth factor (VEGF) in the differential diagnosis of amyloid neuropathy and POEMS syndrome 98
ATTRv amyloidosis Italian Registry: clinical and epidemiological data 98
Studio clinico, neuroradiologico e neuropatologico di due famiglie con arteriopatia cerebrale autosomica dominante. 97
The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study 97
Recombination via flanking direct repeats is a major casue of large-scale deletions of human mitochondrial DNA 96
Guillain-Barré syndrome and COVID-19: an observational multicentre study from two Italian hotspot regions 96
Multiple sclerosis associated with duplicated CMT1A: a report of two cases 95
Congenital lactic acidosis due to a defect of pyruvate dehydrogenase complex (E1). Clinical, biochemical, nerve biopsy study and effect of therapy. 95
Aggressive treatment of severe acute cerebral venous thrombosis associated with oral contraceptives in young women 95
Autonomic nervous system involvement in a new CMT2B family. 95
Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center 95
Inter-nerves and intra-nerve conduction heterogeneity in CMTX with Arg(15)Gln mutation 94
Neuropatie di Charcot-Marie-Tooth: inquadramento clinico e genetico. 94
Neurocutaneous syndromes with pigmentary abnormalities and central nervous system involvement. II. Two cases with atypical incontinentia pigmenti. 94
The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause a MERFF syndrome. 93
L'enigma genetico della neuropatia ottica di Leber e della neurofibromatosi di Recklinghausen 93
Expanding the spectrum of genes responsible for hereditary motor neuropathies 93
Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I 93
Association between inflammatory central nervous system lesions and Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome (CANVAS): a case series 93
Triplet nucleotide repeats: the spinocerebellar ataxias. 91
Isolamento di cloni di cDNA per le subunità VIa e VIIa della Citocromo c ossidasi umana (COX). 91
Late onset mitochondrial encephalo-neuro-myopathies 91
TBK1 mutation spectrum in an extended european patient cohort with frontotemporal dementia and amyotrophic lateral sclerosis 91
Totale 11.427
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Categoria #
all - tutte 73.733
article - articoli 62.831
book - libri 0
conference - conferenze 8.524
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 2.378
Totale 147.466
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.251 0 0 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
2024/20254.084 246 267 136 639 207 106 221 159 613 296 365 829
2025/20262.215 920 712 583 0 0 0 0 0 0 0 0 0
Totale 19.147