IRIS
FILLA, ALESSANDRO
 Distribuzione geografica
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Continente #
NA - Nord America 3403
EU - Europa 1854
AS - Asia 956
SA - Sud America 12
AF - Africa 10
Continente sconosciuto - Info sul continente non disponibili 3
OC - Oceania 3
Totale 6241
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Nazione #
US - Stati Uniti d'America 3268
CN - Cina 778
IT - Italia 503
FI - Finlandia 328
UA - Ucraina 292
DE - Germania 205
IE - Irlanda 200
CA - Canada 129
SE - Svezia 103
GB - Regno Unito 74
VN - Vietnam 60
IN - India 54
ES - Italia 31
FR - Francia 30
NL - Olanda 27
JP - Giappone 16
BE - Belgio 15
IL - Israele 15
IR - Iran 12
BR - Brasile 9
AT - Austria 8
ZA - Sudafrica 8
PT - Portogallo 7
RO - Romania 7
TH - Thailandia 6
TR - Turchia 6
BG - Bulgaria 5
GR - Grecia 4
CH - Svizzera 3
CU - Cuba 3
EU - Europa 3
RU - Federazione Russa 3
AU - Australia 2
DZ - Algeria 2
KR - Corea 2
NO - Norvegia 2
PH - Filippine 2
PL - Polonia 2
SG - Singapore 2
AL - Albania 1
AR - Argentina 1
AZ - Azerbaigian 1
BZ - Belize 1
CL - Cile 1
CO - Colombia 1
CZ - Repubblica Ceca 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
HU - Ungheria 1
ID - Indonesia 1
LK - Sri Lanka 1
MK - Macedonia 1
MX - Messico 1
NZ - Nuova Zelanda 1
Totale 6241
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Città #
Chandler 930
Millbury 409
Princeton 341
Jacksonville 311
Nanjing 251
Boston 162
Beijing 144
Wilmington 139
Ottawa 111
Nanchang 93
Napoli 86
Des Moines 60
Dong Ket 60
Norwalk 57
Jiaxing 46
Shenyang 46
Hebei 45
Redwood City 40
Woodbridge 37
Tianjin 35
Nola 34
Falls Church 33
Kunming 25
Changsha 23
Houston 23
San Mateo 23
Lawrence 21
Naples 21
Boardman 19
Augusta 16
Indiana 15
Dearborn 14
Toronto 13
Shanghai 12
Leawood 10
Ann Arbor 9
Changchun 9
Orange 9
Rome 9
Seattle 9
Torre Annunziata 9
Waanrode 9
Ardabil 7
Cava De' Tirreni 7
Delhi 7
Lanzhou 7
Madrid 7
New Delhi 7
New York 7
Bordeaux 6
Halle 6
Hangzhou 6
Milan 6
Paris 6
Tokyo 6
Bristol 5
Guangzhou 5
London 5
Monmouth Junction 5
Redmond 5
San Jose 5
Sofia 5
Vienna 5
Acerra 4
Ashburn 4
Birmingham 4
Cape Town 4
Fairfield 4
Fremont 4
Saint Louis 4
Stockholm 4
Telese 4
Xian 4
Atlanta 3
Baden 3
Baltimore 3
Constanta 3
Dublin 3
Fall River 3
Frankfurt am Main 3
Fuzhou 3
Hefei 3
Helsinki 3
Hyderabad 3
Mugnano Di Napoli 3
Muizenberg 3
Nocera Inferiore 3
Northampton 3
Poli 3
Portici 3
San Francisco 3
Sant'antimo 3
Torre Del Greco 3
Westerville 3
Azor 2
Bangkok 2
Barcelona 2
Baronissi 2
Bengaluru 2
Buffalo 2
Totale 4008
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Nome #
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. 188
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. 132
Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms. 121
SISTEMA NERVOSO. Neurologia - Neurochirurgia - Neuroradiologia 86
Ataxia-myoclonus syndrome due to a novel homozygous ATP13A2 mutation 59
A novel mutation in SACS gene in a family from southern Italy 54
SPG5 and multiple sclerosis: clinical and genetic overlap? 51
PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism. 49
Dimethyl Fumarate Mediates Nrf2-dependent Mitochondrial Biogenesis in Mice and Humans 47
Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit. 45
Modifications of resting state networks in spinocerebellar ataxia type 2 44
Ataxia with oculomotor apraxia type 1 in southern italy: late onset and variable phenotype. 42
Pathological laughter as onset symptom in atypical parkinsonisms 41
Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17 40
Very late onset in ataxia oculomotor apraxia type I. 39
A randomized controlled pilot trial of lithium in spinocerebellar ataxia type 2. 39
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum 38
Relative frequencies of CAG expansions in spinocerebellar ataxia and dentatorubropallidoluysian atrophy in 116 Italian families 38
Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations. 37
Dimethyl fumarate dosing in humans increases frataxin expression: A potential therapy for Friedreich’s Ataxia 37
Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study 36
Reduced striatal [123I]FP-CIT binding in SCA2 patients without parkinsonism 36
PPAR-gamma Agonist Azelaoyl PAF Increases Frataxin Protein and mRNA Expression. New Implications for the Friedreich's Ataxia Therapy 36
Recombinant human erythropoietin increasesfrataxin protein expression without increasing mRNA expression 36
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C 36
Genome-wide scan linkage analysis for Parkinson's disease: The European Genetic Study of Parkinson's disease. 34
Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease. 34
Complex phenotype in an Italian family with a novel mutation in SPG3A. 34
The Effect of Cerebellar Degeneration on Human Sensori-motor Plasticity 34
Normalization of timed neuropsychological tests with the PATA rate and nine-hole pegboard tests 34
Application of the p9NORM correction method to timed neuropsychological tests in Parkinson's disease and multiple system atrophy. 34
Accuracy of clinical diagnostic criteria for Friedreich's ataxia. 33
Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia 33
Emotion Recognition and Psychological Comorbidity in Friedreich’s Ataxia 33
Electrophysiologic characterization in spinocerebellar ataxia 17 32
Responsiveness of different rating instruments in spinocerebellar ataxia patients 32
Cerebellar blood flow in spinocerebellar degenerations: a single photon emission tomography study in 28 patients. 31
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. 31
Comment: CAG repeats in idiopathic Parkinson disease-To screen or not to screen 31
Long-term effect of epoetin alfa on clinical and biochemical markers in friedreich ataxia 31
A wearable proprioceptive stabilizer for rehabilitation of limb and gait ataxia in hereditary cerebellar ataxias: a pilot open-labeled study 31
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. 30
Adult normative values for the PATA Rate Test 30
Cognitive and functional connectivity alterations in Friedreich's ataxia 30
Ataxia with oculomotor apraxia type 1 in Southern Italy: late onset and variable phenotype 29
Influence of GAA expansion size and disease duration on Central Nervous System impairment in Friedreich's Ataxia. Contribution to the understanding of the pathophysiology of the disease 29
Why do some Friedreich's ataxia patients retain tendon reflexes? A clinical, neurophysiological and molecular study. 29
A randomized clinical trial of lithium in multiple system atrophy. 29
Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: a further link with Alzheimer's disease? 29
Functional MRI signal fluctuations highlight altered resting brain activity in Huntington’s disease 29
Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind, placebo-controlled, multicentre study 29
A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design. 28
Peripheral markers of autophagy in polyglutamine diseases 28
Longitudinal study of a cohort of MSA-C patients in South Italy: survival and clinical features 28
Mitochondrial DNA haplogroups influence the Friedreich's ataxia phenotype. 27
Autonomic nervous system abnormalities in spinocerebellar ataxia type 2: a cardiovascular neurophysiologic study. 27
A multilayer perceptron neural network-based approach for the identification of responsiveness to interferon therapy in multiple sclerosis patients 27
Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay 27
Variants associated with Gaucher disease in multiple system atrophy 27
Stability of erythropoietin repackaging in polypropylene syringes for clinical use 27
Cerebellum and cognition in Friedreich ataxia: a voxel-based morphometry and volumetric MRI study 27
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. . 26
Variable phenotype in a P102L Gerstmann-Straussler-Scheinker Italian family 26
The Friedreich ataxia GAA triplet repeat: premutation and normal alleles. 26
Friedreich's disease. A linkage study in southern andcentral Italy. 26
Evidence of a genetic marker for early onset in Friedreich's ataxia. 26
A randomized controlled clinical trial of growth hormone in amyotrophic lateral sclerosis: clinical, neuroimaging, and hormonal results. 26
Supratentorial and infratentorial damage in spinocerebellar ataxia 2: A diffusion-weighted MRI study. 26
Friedreich's Ataxia Presenting as Isolated Spastic Paraparesis 26
Spinocerebellar ataxia type 2-neuronopathy or neuropathy? 26
Up-regulation of c-Jun N-terminal kinase pathway in Friedreich's ataxia cells. 25
DNA damage induced by polyglutamine-expanded proteins. 25
A pathogenetic classification of hereditary ataxias: is the time ripe? 25
Friedreich's disease. A linkage study in southern and central Italy. 25
Genetic screening for LRRK2 gene G2019S mutation in Parkinson's disease patients from Southern Italy. 25
Be aware of Wolfram syndrome when examining ataxic patients 25
Le atassie ereditarie 25
Predictors of survival in spinocerebellar ataxia type 2 population from Southern Italy. 25
Serum transferrin receptor levels in Friedreich's and other degenerative ataxias. 24
Autosomal dominant cerebellar ataxia type I: multimodal electrophysiological study and comparison between SCA1 and SCA2 patients 24
A new case of Refsum's disease. A clinical, biochemical and ultrastructural study. 24
Clinical and CT-scan study of a case of cerebellar ataxia and progressive hearing loss: Lichtenstein-Knorr disease? 24
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. 24
A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease. 24
Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study 24
Small fibers involvement in Friedreich's ataxia 23
Real-time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers. 23
A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea. 23
Age of onset, sex, and cardiomyopathy as predictors of disability and survival in Friedreich's disease: a retrospective study on 119 patients. 23
Chronic Pachymeningitis: a case of neurosyphilis with spastic paraparesis. 23
A novel mutation in GCH-1 gene in a case of dopa-responsive dystonia. 23
A genetic study of Parkinson's disease. 23
Up-regulation of c-Jun N-terminal kinase pathway in Friedreich's ataxia cells. 22
Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage. 22
INTERGENERATIONAL INSTABILITY AND MARKED ANTICIPATION IN SCA-17. 22
DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich's ataxia patients. 22
Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy. 22
Course and outcome of a voltage-gated potassium channel antibody negative Morvan's syndrome. 22
Benign hereditary chorea: clinical and neuroimaging features in an Italian family. 22
Neurosyphilis with complex partial status epilepticus and mesiotemporal MRI abnormalities mimicking herpes simplex encephalitis 22
Totale 3434
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Categoria #
all - tutte 13410
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 13410
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2017/201898 0000 00 1422 318203
2018/2019469 085131 23178 1422 16720
2019/20201054 451246213 7222 218 7113120141
2020/2021973 32597770 75109 8543 1025817984
2021/20221928 50373034 2268 3297 241158300859
2022/20231382 41319852207 267241 40 0000
Totale 6726