CATALOGO DEI PRODOTTI DELLA RICERCA

FABRIZI, Gian Maria
 Distribuzione geografica
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Continente #
NA - Nord America 6.071
EU - Europa 5.172
AS - Asia 1.676
SA - Sud America 24
AF - Africa 16
OC - Oceania 14
Continente sconosciuto - Info sul continente non disponibili 11
Totale 12.984
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Nazione #
US - Stati Uniti d'America 6.054
GB - Regno Unito 1.639
CN - Cina 1.378
FR - Francia 661
SE - Svezia 642
IT - Italia 512
IE - Irlanda 417
RU - Federazione Russa 383
FI - Finlandia 354
DE - Germania 319
SG - Singapore 175
UA - Ucraina 103
BE - Belgio 56
KR - Corea 36
NL - Olanda 36
VN - Vietnam 27
IR - Iran 14
AU - Australia 13
CA - Canada 13
BR - Brasile 11
IN - India 11
EU - Europa 10
CL - Cile 9
ES - Italia 9
EG - Egitto 8
HK - Hong Kong 8
JP - Giappone 7
IL - Israele 6
LV - Lettonia 6
MA - Marocco 6
RO - Romania 5
CZ - Repubblica Ceca 4
MX - Messico 4
TR - Turchia 4
CH - Svizzera 3
NO - Norvegia 3
RS - Serbia 3
AR - Argentina 2
AT - Austria 2
DK - Danimarca 2
EE - Estonia 2
GR - Grecia 2
ID - Indonesia 2
MD - Moldavia 2
PL - Polonia 2
SA - Arabia Saudita 2
SC - Seychelles 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AL - Albania 1
BD - Bangladesh 1
BY - Bielorussia 1
HR - Croazia 1
HU - Ungheria 1
KG - Kirghizistan 1
KH - Cambogia 1
KZ - Kazakistan 1
MY - Malesia 1
NZ - Nuova Zelanda 1
PE - Perù 1
SK - Slovacchia (Repubblica Slovacca) 1
TH - Thailandia 1
VE - Venezuela 1
Totale 12.984
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Città #
Southend 1.499
Jacksonville 1.089
Chandler 1.050
Woodbridge 845
Ann Arbor 502
Dublin 415
Houston 346
Ashburn 251
Beijing 248
Wilmington 204
Lawrence 198
Princeton 198
Verona 196
Jinan 157
Nanjing 122
Singapore 114
New York 112
Shenyang 98
Hebei 83
Sindelfingen 71
Changsha 62
Redmond 58
Tianjin 56
Falls Church 53
Helsinki 48
Nanchang 48
Hangzhou 47
Ningbo 45
Haikou 41
Zhengzhou 41
Kent 38
Milan 38
Brussels 36
Taiyuan 36
Jiaxing 34
Seoul 34
Guangzhou 32
Taizhou 31
Boardman 29
Seattle 24
Los Angeles 22
Norwalk 21
Waanrode 20
Redwood City 18
Fairfield 17
Lanzhou 17
Auburn Hills 16
Bologna 15
Clearwater 15
Detroit 15
Riva 15
Chicago 14
Fuzhou 13
Rome 13
Kemerovo 12
Dong Ket 11
Lancaster 11
Washington 9
Cairo 8
Florence 8
Hong Kong 8
San Diego 8
Toronto 8
Lappeenranta 7
Paris 7
Policoro 7
Mehlingen 6
Munich 6
Novokuznetsk 6
Canberra 5
Edinburgh 5
Gorizia 5
Midelt 5
Padova 5
Sacramento 5
San Francisco 5
Tokyo 5
Belo Horizonte 4
Dongguan 4
Durango 4
Düsseldorf 4
London 4
Moscow 4
Vicenza 4
Amsterdam 3
Arezzo 3
Bari 3
Belgrade 3
Berlin 3
Brno 3
Cambridge 3
Castelfidardo 3
Dallas 3
Madrid 3
Melbourne 3
Pavia 3
Stockholm 3
Yicheng 3
Zanjan 3
Aarau 2
Totale 9.097
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Nome #
Malattia di Charco-Marie-Tooth. Guida alla diagnosi molecolare. 140
Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene. 124
Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). 119
Diagnosis of human prion disease using real-time quaking-induced conversion testing of olfactory mucosa and cerebrospinal fluid samples 115
An unusual transthyretin gene missense mutation (TTR Phe33Val) linked to familial amyloidotic polyneuropathy 111
Three-dimensional Structure of the Transthyretin (TTR) Phe64Leu Variant 111
X-linked dominant Charcot-Marie Tooth neuropathy: analysis of a pedigree with a novel mutation of connexin32 109
Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype. 107
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family. 106
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 106
Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. 105
Autosomal dominant Alzheimer's disease with early frontal lobe involvement associated with the Met239Ile mutation of presenilin 2 gene. 105
A pan-european study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability and intermediate repeats. 104
Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B 103
Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. 102
Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E 101
Gonosomal mosaicism of a novel heterozygous mutation of P0 causes Charcot-Marie-Tooth neuropathy type 1B with apparent autosomal recessive inheritance 99
PMP22 related congenital hypomyelination neuropathy 99
Congenital hypomyelination neuropathy with a novel mutation of PMP22 99
Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene 97
The Italian hemodilution trial in acute stroke. 97
Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase 97
Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZ gene 96
Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy 95
Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0 93
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy and right-to-left shunt: lack of evidence for an association in a prevalence study. 93
Dysmyelinating neuropathies of infancy: defined and undefined forms 92
EFFETTI DELL’ORTESI GAMBA-PIEDE NEI PAZIENTI AFFETTI DA MALATTIA DI CHARCOT-MARIE-TOOTH: ANALISI STRUMENTALE DEI PARAMETRI SPAZIO-TEMPORALI DELLA DEAMBULAZIONE 92
Convergent pathological and ultrasound features in hereditary syndromic and non‐syndromic minifascicular neuropathy related to DHH 91
Headache, seizures and repente strokes in a young subject: a new case of MELAS-like syndrome? 90
Eterogeneità genetico molecolare della neuropatia ottica ereditaria di Leber 90
RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy 90
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 89
Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H. 88
NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES 87
A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: Phenotypical and genotypical characterization 86
Haemodilution in acute stroke: results of the Italian haemodilution trial. 86
NERVE ULTRASOUND FINDINGS IN A COHORT OF PATIENTS WITH MPZ-RELATED CHARCOT-MARIE-TOOTH NEUROPATHIES 86
Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22 85
Mitochondrial encephalo-neuro-myopathy with myoclonus epilepsy, basal nuclei calcification and hyperlactacidemia. 85
Purification and characterization of UDP-Gal: Ceramide Galactosyltransferase and recostitution of its activity by incorporation into liposomes. 85
Disorders of peripheral nerves 85
Sequence of a cDNA specifying subunit VIIc of human cytochrome c oxidase 84
Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene. 84
A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype. 84
Chapter 14 | Dysmyelinating neuropathies of infancy: defined and undefined forms 84
Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene. 84
Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy. 83
I quadri neuropatologici delle sindromi paraneoplastiche 83
Patologia oculare nelle encefalo-neuro-miopatie genetiche mitocondriali. 82
Progressive myoclonus epilepsy in congenital generalized lipodystrophy type 2: report of 3 cases and literature review 81
Simultaneus occurence of spongiform encephalopathy in a man and his cat in Italy 81
Glycan-independent role of calnexin in the intracellular retention of Charcot-Marie-Tooth 1A Gas3/PMP22 mutants 80
The strategy of investigating autistic syndrome in childhood. 80
SEIPIN S90L Mutation in an Italian family with CMT2/dHMN and pyramidal signs. 78
Neurocutaneous syndromes with pigmentary abnormalities and central nervous system involvement. II. Two cases with atypical incontinentia pigmenti. 78
Spinal arachnoid cyst as a cause of isolated, progressive, bilateral C5-C6 radiculopathy 78
Multiple sclerosis associated with duplicated CMT1A: a report of two cases 75
Isolamento di cloni di cDNA per le subunità VIa e VIIa della Citocromo c ossidasi umana (COX). 75
Serum vascular endothelial growth factor (VEGF) in the differential diagnosis of amyloid neuropathy and POEMS syndrome 75
The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause a MERFF syndrome. 73
Studio clinico, neuroradiologico e neuropatologico di due famiglie con arteriopatia cerebrale autosomica dominante. 73
Inter-nerves and intra-nerve conduction heterogeneity in CMTX with Arg(15)Gln mutation 72
Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 Notch3 gene mutation 72
Late onset mitochondrial encephalo-neuro-myopathies 72
A novel LITAF/SIMPLE variant within a family with minimal demyelinating Charcot-Marie-Tooth disease. 72
A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's Disease and prominent cerebellar ataxia. 72
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. 71
Adult onset charcot-marie-tooth disease type 1D with an Arg381Cys mutation of EGR2. 71
L'enigma genetico della neuropatia ottica di Leber e della neurofibromatosi di Recklinghausen 71
The TTR Italian Mutant: Iodine Effect on Protein Structure 70
Recombination via flanking direct repeats is a major casue of large-scale deletions of human mitochondrial DNA 70
Congenital lactic acidosis due to a defect of pyruvate dehydrogenase complex (E1). Clinical, biochemical, nerve biopsy study and effect of therapy. 70
Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid neuropathy 70
A novel GJB1 mutation in an Italian patient with Charcot–Marie–Tooth disease and pyramidal signs. 70
The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study 70
A somatic and germline mosaic mutation in MPZ/P0 mimics recessive inheritance of CMT1B 69
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. 69
Guillain-Barré syndrome and COVID-19: an observational multicentre study from two Italian hotspot regions 69
Sequence of a cDNA specifying subunit VIa of human cytochrome c oxidase. 68
Modificazioni del DNA mitocondriale nella neuropatia ottica di Leber. 68
Sequence of a cDNA specifying subunit VIIa of human cytochrome c oxidase. 68
Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I 68
Triplet nucleotide repeats: the spinocerebellar ataxias. 67
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] 67
TBK1 mutation spectrum in an extended european patient cohort with frontotemporal dementia and amyotrophic lateral sclerosis 67
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience 67
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. 66
Clinical, electrophysiological and pathological findings of a patient with CMT2 due to the p.Ala738Val mitofusin 2 mutation. 66
Patogenesi biochimica della malattia di Leber 66
Considerable post-partum worsening in a patient with CMT2E. 66
STUDIO RANDOMIZZATO-CONTROLLATO PER LA VALUTAZIONE DEGLI EFFETTI DI UN NUOVO PROGRAMMA RIABILITATIVO NELLA NEUROPATIA DI CHARCOT MARIE TOOTH 1A 66
Guidelines for the diagnosis of Charcot-Marie-Tooth disease and related neuropathies. 65
Sporadic transthyretin amyloidosis with a novel TTR gene mutation misdiagnosed as primary amyloidosis. 65
Mutazioni del DNA mitocondriale nella neuropatia ottica di Leber 64
Infectious neuropathies 64
Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities. 64
Vascular endothelial growth factor helps differentiate neuropathies in rare plasma cell dyscrasias. 63
Reply: Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot–Marie–Tooth disease 63
Expanding the spectrum of genes responsible for hereditary motor neuropathies 63
Totale 8.316
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Categoria #
all - tutte 45.436
article - articoli 38.316
book - libri 0
conference - conferenze 5.610
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 1.510
Totale 90.872
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.364 0 9 20 168 98 182 184 130 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
2024/2025377 246 131 0 0 0 0 0 0 0 0 0 0
Totale 13.225