GHEZZI, DANIELE
 Distribuzione geografica
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Continente #
NA - Nord America 2.018
AS - Asia 178
EU - Europa 130
AF - Africa 1
OC - Oceania 1
Totale 2.328
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Nazione #
US - Stati Uniti d'America 2.017
SG - Singapore 100
CN - Cina 55
IT - Italia 29
FI - Finlandia 27
FR - Francia 21
SE - Svezia 19
VN - Vietnam 17
GB - Regno Unito 14
DE - Germania 5
IN - India 4
IE - Irlanda 3
NL - Olanda 3
BE - Belgio 2
CH - Svizzera 2
SA - Arabia Saudita 2
UA - Ucraina 2
BG - Bulgaria 1
CA - Canada 1
CZ - Repubblica Ceca 1
EG - Egitto 1
HU - Ungheria 1
NZ - Nuova Zelanda 1
Totale 2.328
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Città #
Fairfield 427
Chandler 202
Ashburn 178
Woodbridge 158
Houston 154
Seattle 138
Cambridge 132
Wilmington 92
Singapore 81
Ann Arbor 51
Medford 43
Princeton 43
San Diego 40
Des Moines 34
Roxbury 28
Helsinki 26
Beijing 20
Ogden 19
Dong Ket 17
Santa Clara 15
Padova 12
London 10
New York 8
Dallas 5
Jinan 4
Dublin 3
Washington 3
Boardman 2
Borås 2
Dammam 2
Guangzhou 2
Los Angeles 2
Nanchang 2
Nanjing 2
Parma 2
Pune 2
Redwood City 2
Turin 2
Umeå 2
Waanrode 2
Zurich 2
Acton 1
Adelebsen 1
Berlin 1
Bologna 1
Budapest 1
Cairo 1
Changsha 1
Chicago 1
Dalsjoefors 1
Enschede 1
Forest City 1
Hefei 1
Islington 1
Jiaxing 1
Kharkiv 1
Kilburn 1
Kunming 1
Lappeenranta 1
Miami Beach 1
Mumbai 1
New Bedfont 1
Ningbo 1
Norwalk 1
Olomouc 1
Palermo 1
Pinehaven 1
Quzhou 1
Rockville 1
San Mateo 1
Shenyang 1
Sofia 1
Toronto 1
Zhengzhou 1
Totale 2.004
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Nome #
The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria 141
Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations 116
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor 116
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy 90
Disease-causing SDHAF1 mutations impair transfer of Fe-S clusters to SDHB 83
The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells 72
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast 71
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant 69
A novel homozygous mutation in SUCLA2 gene identified by exome sequencing 68
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence 65
MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I 63
A family with paroxysmal nonkinesigenic dyskinesias (PNKD): Evidence of mitochondrial dysfunction 62
A Homozygous Mutation in LYRM7/MZM1L Associated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity 60
The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes 58
FASTKD2 Nonsense Mutation in an Infantile Mitochondrial Encephalomyopathy Associated with Cytochrome C Oxidase Deficiency 58
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy 57
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly 56
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy 54
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency 54
Infantile mitochondrial encephalopathy 52
Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations 52
Mitochondrial DNA haplogroup K is associated with a lower risk of parkinson's disease in Italians 50
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy 49
VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies 49
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia 47
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency 44
A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy 43
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies 43
Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor 42
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis 40
POLG1 in idiopathic Parkinson disease 40
SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease 40
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy 39
Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease 38
MitMed: a multicenter consortium for the identification and characterization of nuclear genes responsible for human mitochondrial disorders towards potential therapeutic approaches in experimental models 35
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations 35
Loss of apoptosis-inducing factor critically affects MIA40 function 35
Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator 34
MitMed: a multicenter consortium for the identification and characterization of nuclear genes responsible for human mitochondrial disorders 33
COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency 33
GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: Identification and functional characterization of four novel mutations 30
Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease 29
Novel (ovario) leukodystrophy related to AARS2 mutations 29
Totale 2.374
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Categoria #
all - tutte 12.203
article - articoli 11.896
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 24.099
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202095 0 0 0 5 6 3 20 14 16 20 9 2
2020/20211.003 3 2 6 527 76 7 12 33 108 55 111 63
2021/2022474 0 6 55 10 68 30 1 56 71 5 41 131
2022/2023384 74 51 14 39 50 45 0 25 52 1 23 10
2023/2024246 8 19 42 27 16 33 12 6 30 4 26 23
2024/2025136 9 94 33 0 0 0 0 0 0 0 0 0
Totale 2.374