Catalogo dei prodotti della ricerca

NARDECCHIA, FRANCESCA
 Distribuzione geografica
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Continente #
NA - Nord America 1.657
EU - Europa 883
AS - Asia 457
AF - Africa 14
SA - Sud America 9
OC - Oceania 4
Totale 3.024
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Nazione #
US - Stati Uniti d'America 1.626
IT - Italia 537
SG - Singapore 163
CN - Cina 161
IN - India 106
DE - Germania 59
FI - Finlandia 59
SE - Svezia 41
GB - Regno Unito 32
CA - Canada 29
NL - Olanda 25
UA - Ucraina 23
ID - Indonesia 22
BG - Bulgaria 17
IE - Irlanda 16
FR - Francia 15
RO - Romania 10
TG - Togo 10
PL - Polonia 9
RU - Federazione Russa 9
AR - Argentina 5
CZ - Repubblica Ceca 5
AU - Australia 4
BE - Belgio 4
CH - Svizzera 4
ES - Italia 4
GR - Grecia 4
AT - Austria 3
ZA - Sudafrica 3
BO - Bolivia 2
HU - Ungheria 2
MX - Messico 2
BR - Brasile 1
CL - Cile 1
HK - Hong Kong 1
IR - Iran 1
JP - Giappone 1
LI - Liechtenstein 1
LT - Lituania 1
LU - Lussemburgo 1
MY - Malesia 1
PT - Portogallo 1
RS - Serbia 1
SC - Seychelles 1
TW - Taiwan 1
Totale 3.024
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Città #
Fairfield 215
Chandler 169
Rome 129
Singapore 120
Houston 90
Ashburn 88
Woodbridge 87
Seattle 83
Cambridge 72
Wilmington 72
Beijing 70
Santa Clara 66
Princeton 55
New York 54
Ann Arbor 42
Torre del Greco 40
Plano 34
San Paolo di Civitate 34
Boston 31
Millbury 29
Boardman 28
Lawrence 27
Milan 26
Bremen 23
Helsinki 23
San Diego 23
Jakarta 22
Andover 19
Dearborn 18
Toronto 18
Sofia 17
Dublin 16
Norwalk 11
Lomé 10
Ottawa 10
Falkenstein 8
Terracina 8
Bari 7
Giaveno 7
Jacksonville 7
London 7
Marseille 7
Moscow 7
Dallas 6
Giugliano In Campania 6
Turin 6
Warsaw 6
Brno 5
Federal 5
Lappeenranta 5
Mannheim 5
Paris 5
Stockholm 5
Bottrop 4
Bühl 4
Guwahati 4
Heraklion 4
Urbino 4
Almere Stad 3
Birmingham 3
Brussels 3
Caselle Torinese 3
Falls Church 3
Florence 3
Frankfurt am Main 3
Fremont 3
Kunming 3
Muizenberg 3
Pescara 3
Pune 3
San Mateo 3
Sydney 3
Verona 3
Viterbo 3
Blackheath 2
Bordeaux 2
Bracciano 2
Budapest 2
Cagliari 2
Castuera 2
Centrale 2
Cerveteri 2
Chieti 2
Como 2
Foligno 2
Genova 2
Hefei 2
Kilburn 2
Los Angeles 2
Mexico City 2
Palermo 2
Pathanamthitta 2
Perugia 2
Phoenix 2
Pontinia 2
Redwood City 2
Reggio Calabria 2
Rho 2
Salsomaggiore Terme 2
Santa Cruz 2
Totale 2.103
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Nome #
Executive functioning, adaptive skills, emotional and behavioral profile: A comparison between autism spectrum disorder and phenylketonuria 108
Targeting mGlu5 metabotropic glutamate receptors in the treatment of cognitive dysfunction in a mouse model of phenylketonuria 103
Paradoxical sleep deprivation in rats causes a selective reduction in the expression of type-2 metabotropic glutamate receptors in the hippocampus 97
Neurocognitive and neuroimaging outcome of early treated young adult PKU patients: A longitudinal study 94
Metabolic epilepsy, an update 88
Erythrocyte-mediated delivery of recombinant enzymes 81
The outcome of white matter abnormalities in early treated phenylketonuric patients. A retrospective longitudinal long-term study 80
Psychiatric disorders in adolescent and young adult patients with phenylketonuria 79
Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency 77
Neurotransmitter trafficking defect in a patient with clathrin (cltc) variation presenting with intellectual disability and early-onset parkinsonism 76
Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels 76
Clinical characterization of tremor in patients with phenylketonuria 74
Predictability and inconsistencies in the cognitive outcome of early treated PKU patients 72
Parkinsonism in children: Clinical classification and etiological spectrum 66
Applicability of the Peroxidation of Leukocytes Index Ratio (PLIR) method on BD flow cytometer 64
Clinical and biochemical features in a patient with mitochondrial fission factor gene alteration 63
Parkinsonism, Intellectual Disability, and Catatonia in a Young Male With MECP2 Variant 62
Cognitive Outcomes and Relationships with Phenylalanine in Phenylketonuria: A Comparison between Italian and English Adult Samples. 61
Leucodistrofia metacromatica: un caso di pubertà precoce 61
Antipsychotic Medication in Adolescents Suffering from Schizophrenia: A Meta-Analysis of Randomized Controlled Trials 59
L’ipotesi neuroevolutiva della schizofrenia: il ruolo della via di Wnt 59
Intellectual disability and brain creatine deficit: Phenotyping of the genetic mouse model for GAMT deficiency 58
Presentazione atipica di neuropatia ottica di leber 55
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthasedeficient patients 54
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease 50
Severe early onset ethylmalonic encephalopathy with West syndrome 50
null 50
Effects of a single dose of a green tea extract supplement on the Peroxidation of Leukocytes Index Ratio (PLIR) of healthy subjects. 49
New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts 49
Aberrant Phenylalanine Metabolism in PKU (PAH) Heterozygotes 46
Untreated PKU patients without intellectual disability: What do they teach us? 45
Cannabis, psicosi, adolescenza: recenti dati clinici e sperimentali 44
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience 43
Engineering new metabolic pathways in isolated cells for the degradation of guanidinoacetic acid and simultaneous production of creatine 43
null 42
Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness 42
3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature 42
The diagnosis of autosomal dominant Guanosine Triphosphate-Cyclohydrolase 1 Deficiency (Segawa Disease): the combined role of urine pterins and phenylalanine loading test. 39
Effects of a single dose of a green tea extract supplement on the Peroxidation of Leukocytes Index Ratio (PLIR) of healthy subjects 38
Predictability and inconsistencies of cognitive outcome in patients with phenylketonuria and personalised therapy: The challenge for the future guidelines 35
Mechanisms underlying interallelic complementation: lesson learnt from phenylketonuria, glutaric aciduria type 1 and Alzheimer disease 34
The effect of blood Phe levels on plasma concentrations of biogenic amine in PKU patients 34
null 32
Looking back at the neonatal period in early-treated phenylketonuric patients 32
The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans 31
Comparing tetrahydrobiopterin with sapropterin laoding tests 30
Patologie dei trasportatori ed affezioni neurologiche e psichiatriche in età evolutiva 30
null 30
Treatable Inherited Movement Disorders in Children: Spotlight on Clinical and Biochemical Features 29
Improvement of Movement Disorder and Neurodevelopment under Selegiline in a CLTC-Deficient Patient 28
La formazione in psichiatria infantile: tra storie e prospettive 27
[Obstetric complications and early-onset schizophrenia: a case-control study]. 27
Fever-Induced and Early Morning Paroxysmal Dyskinesia in a Man With GNB1 Encephalopathy 24
Outcome in short chain acyl-CoA dehydrogenase deficiency (SCADD) detected by newborn screening (NBS) 24
Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male 24
Neurocognitive and neuroimaging outcome of early treated PKU subjects. First longitudinal study 23
null 23
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome 21
GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments 21
Psychiatric Manifestations in Children and Adolescents with Inherited Metabolic Diseases 21
Towards precision medicine for phenylketonuria: The effect of restoring a strict metabolic control in adult patients with early-treated phenylketonuria 21
null 21
Psychiatric disturbances in adolescent and adult phenylketonuric patients 20
Transient hyperphenylalaninemia due to heterozygous mutation in pyruvoyltetrahydropterin synthase (PTS) gene 19
Optic neuropathy in an adult PKU patient during long term follow-up 19
Can untreated PKU patients escape from intellectual disability? A systematic review 16
Metabolic control and clinical outcome in adolescents with phenylketonuria 15
null 15
null 14
Neuroimaging in early-treated phenylketonuria patients and clinical outcome: A systematic review 13
Biallelic variants of MRPS36 cause a new form of Leigh syndrome 11
Secondary pterins alteration in patients with phenylalanine hydroxylase deficit 11
Loss of function and reduced levels of sphingolipid desaturase DEGS1 variants are both relevant in disease mechanism 10
Pegvaliase therapy for phenylketonuria: Real-world case series and clinical insights 8
Totale 3.232
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Categoria #
all - tutte 11.615
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 11.615
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020353 0 0 0 0 0 50 54 55 53 72 42 27
2020/2021332 20 30 55 14 19 36 13 35 21 45 13 31
2021/2022585 11 22 68 14 69 42 5 43 45 40 120 106
2022/2023600 113 88 16 113 79 56 11 32 41 11 29 11
2023/2024467 18 46 14 66 30 81 13 27 17 50 47 58
2024/2025434 29 57 54 143 78 73 0 0 0 0 0 0
Totale 3.232