IRIS
MALTECCA, FRANCESCA
 Distribuzione geografica
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Continente #
EU - Europa 134
NA - Nord America 117
AS - Asia 50
Totale 301
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Nazione #
US - Stati Uniti d'America 117
SE - Svezia 72
IT - Italia 30
SG - Singapore 30
CN - Cina 18
RU - Federazione Russa 11
IE - Irlanda 7
DE - Germania 4
FI - Finlandia 3
FR - Francia 3
NL - Olanda 2
AM - Armenia 1
BE - Belgio 1
IN - India 1
PL - Polonia 1
Totale 301
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Città #
Singapore 21
Lawrence 16
Princeton 16
Ashburn 13
Boardman 12
Milan 11
Dublin 7
Shanghai 7
Moscow 5
Ancona 3
Helsinki 3
Los Angeles 3
Brescia 2
Guangzhou 2
Montauro 2
Nerviano 2
Rome 2
Seattle 2
Beijing 1
Bergamo 1
Brussels 1
Cantù 1
Chiaravalle 1
Fort Worth 1
Gelsenkirchen 1
Genoa 1
Henderson 1
Naaldwijk 1
New York 1
Nuremberg 1
Pescara 1
Pune 1
Secaucus 1
Springfield 1
Taizhou 1
Wuxi 1
Yerevan 1
Totale 148
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Nome #
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 30
U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene 27
Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation 23
Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model 22
m-AAA and i-AAA complexes coordinate to regulate OMA1, the stress-activated supervisor of mitochondrial dynamics 22
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation 20
The mitochondrial protease AFG3L2 is essential for axonal development 19
Upregulation of Peroxiredoxin 3 Protects Afg3l 2-KO Cortical Neurons In Vitro from Oxidative Stress: A Paradigm for Neuronal Cell Survival under Neurodegenerative Conditions 19
Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation 17
Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice 17
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways 17
Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration 16
Reduction of sacsin levels in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix-Saguenay 14
Intergenerational instability and marked anticipation in SCA-17 14
In vivo detection of oxidized proteins: a practical approach to tissue-derived mitochondria. 14
Behavioural disorder, dementia, ataxia and Huntington-like symptoms in a large family with TATA box-Binding Protein mutation. 14
Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17 12
Totale 317
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Categoria #
all - tutte 4.253
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 4.253
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20203 0 0 0 0 0 1 1 0 0 1 0 0
2020/20211 0 0 0 0 0 0 0 0 1 0 0 0
2021/202211 0 0 0 5 0 0 1 1 0 0 1 3
2022/2023125 38 31 15 0 2 14 12 6 7 0 0 0
2023/202483 2 1 21 7 19 7 0 9 0 0 3 14
2024/202581 27 6 14 17 17 0 0 0 0 0 0 0
Totale 317