Catalogo dei prodotti della ricerca

MANTI, FILIPPO
 Distribuzione geografica
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Continente #
NA - Nord America 1.395
EU - Europa 821
AS - Asia 409
AF - Africa 10
SA - Sud America 10
OC - Oceania 5
Totale 2.650
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Nazione #
US - Stati Uniti d'America 1.360
IT - Italia 504
SG - Singapore 200
CN - Cina 95
IN - India 75
FI - Finlandia 58
SE - Svezia 55
DE - Germania 32
CA - Canada 30
ID - Indonesia 29
BG - Bulgaria 26
RU - Federazione Russa 26
GB - Regno Unito 22
IE - Irlanda 18
FR - Francia 13
NL - Olanda 12
PL - Polonia 8
ES - Italia 7
BE - Belgio 6
AR - Argentina 5
AU - Australia 5
CH - Svizzera 5
MX - Messico 5
EG - Egitto 4
GR - Grecia 4
RO - Romania 4
TG - Togo 4
UA - Ucraina 4
AT - Austria 3
LT - Lituania 3
BA - Bosnia-Erzegovina 2
BO - Bolivia 2
CL - Cile 2
CY - Cipro 2
CZ - Repubblica Ceca 2
HK - Hong Kong 2
HU - Ungheria 2
RS - Serbia 2
ZA - Sudafrica 2
EC - Ecuador 1
EE - Estonia 1
IL - Israele 1
IR - Iran 1
IS - Islanda 1
JP - Giappone 1
LI - Liechtenstein 1
MY - Malesia 1
PH - Filippine 1
TR - Turchia 1
Totale 2.650
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Città #
Fairfield 211
Rome 185
Singapore 143
Chandler 119
Ashburn 85
Woodbridge 79
Seattle 71
Houston 67
Wilmington 66
Santa Clara 63
Cambridge 62
San Paolo di Civitate 45
Princeton 42
Beijing 41
Helsinki 32
New York 32
Torre del Greco 32
Lawrence 31
Milan 31
Ann Arbor 29
Boardman 29
Jakarta 29
Sofia 26
Millbury 22
Boston 20
San Diego 20
Plano 18
Toronto 16
Andover 15
Dublin 14
Moscow 14
Ottawa 14
Lappeenranta 11
Norwalk 8
Giaveno 7
Warsaw 6
Bremen 5
Brussels 5
Federal 5
London 5
Mannheim 5
Mumbai 5
Naples 5
Bottrop 4
Brugherio 4
Frankfurt am Main 4
Heraklion 4
Lomé 4
Sacramento 4
Turin 4
Bari 3
Bern 3
Cairo 3
Cerveteri 3
Chengdu 3
Des Moines 3
Falkenstein 3
Jinan 3
Maddaloni 3
Mexico City 3
Phoenix 3
Stockholm 3
Stuttgart 3
Sydney 3
Welschnofen 3
Albano Laziale 2
Ancona 2
Angri 2
Bacoli 2
Badia Polesine 2
Bijeljina 2
Bilbao 2
Blackheath 2
Bordeaux 2
Brescia 2
Brno 2
Budapest 2
Buffalo 2
Castuera 2
Cedar Rapids 2
Foligno 2
Giugliano In Campania 2
Hong Kong 2
Jacksonville 2
Jiaxing 2
Livorno 2
Madrid 2
Monza 2
Mountain View 2
Muizenberg 2
Nardò 2
Novi Sad 2
Paphos 2
Paris 2
Parsippany 2
Perm 2
Plumelin 2
Pontinia 2
Redwood City 2
Rho 2
Totale 1.913
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Nome #
Executive functioning, adaptive skills, emotional and behavioral profile: A comparison between autism spectrum disorder and phenylketonuria 108
Screening for developmental disorders in 3- and 4-year-old italian children: a preliminary study 104
Neurocognitive and neuroimaging outcome of early treated young adult PKU patients: A longitudinal study 94
Children's and parent's psychological profiles in selective mutism and generalized anxiety disorder. A clinical study 92
Age-related psychophysiological vulnerability to phenylalanine in phenylketonuria. 84
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
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
Parental Stress of Preschool Children With Generalized Anxiety or Oppositional Defiant Disorder. 74
Clinical characterization of tremor in patients with phenylketonuria 74
Predictability and inconsistencies in the cognitive outcome of early treated PKU patients 72
Living with phenylketonuria in adulthood: the PKU ATTITUDE study 71
A wearable heart rate measurement device for children with autism spectrum disorder 71
Risks and Protective Factors Associated With Mental Health Symptoms During COVID-19 Home Confinement in Italian Children and Adolescents: The #Understandingkids Study 68
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients 62
Cognitive Outcomes and Relationships with Phenylalanine in Phenylketonuria: A Comparison between Italian and English Adult Samples. 61
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients 59
Running apraxia as a presenting symptom of neuronal ceroid lipofuscinosis 6 57
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthasedeficient patients 54
Molecular biomarkers to track clinical improvement following an integrative treatment model in autistic toddlers 53
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease 50
Age–related psychophysiological vulnerability to phenylalanine in young-adult phenylketonuric subjects 50
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: data from the iNTD registry 50
Psychogenic non-epileptic seizures and functional motor disorders in developmental age: A comparison of clinical and psychopathological features 49
Simultaneous determination of 5-hydroxytryptophan and 3-O-methyldopa in dried blood spot by UPLC-MS/MS: A useful tool for the diagnosis of L-amino acid decarboxylase deficiency 48
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype 46
White matter involvement and neurocognitive outcome in phenylketonuric (PKU) patients with and without BH4/sapropterin dihydrochloride supplementation 45
Adult phenotype of KCNQ2 encephalopathy 45
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines 42
Neurophysiological assessment of juvenile parkinsonism due to primary monoamine neurotransmitter disorders 41
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing 41
Successful pregnancy in a patient with l-amino acid decarboxylase deficiency. therapeutic management and clinical outcome 38
KCNQ2 encephalopathy manifesting with Rett-like features A follow-up into adulthood 38
LOSS OF CONTINUITY OF CARE IN PEDIATRIC NEUROLOGY SERVICES DURING COVID-19 LOCKDOWN: AN ADDITIONAL STRESSOR FOR PARENTS 37
The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans 34
Loss of Continuity of Care in Pediatric Neurology Services during COVID-19 Lockdown: An Additional Stressor for Parents 34
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum 32
The burden of epilepsy on long-term outcome of genetic developmental and epileptic encephalopathies: A single tertiary center longitudinal retrospective cohort study 31
Psychometric Properties and Validation of the Italian Version of Ages & Stages Questionnaires Third Edition 30
Cognitive vulnerability in early-treated PKU patients: a psychophysiological study. 30
null 30
Improvement of Movement Disorder and Neurodevelopment under Selegiline in a CLTC-Deficient Patient 28
L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study 26
A Systematic Review on Autism and Hyperserotonemia: State-of-the-Art, Limitations, and Future Directions 24
Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency 23
null 23
Neurodevelopmental Disorder and Late‐Onset Degenerative Parkinsonism in a Patient with a WDR45 Defect 23
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome 22
Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients’ Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus 21
Towards precision medicine for phenylketonuria: The effect of restoring a strict metabolic control in adult patients with early-treated phenylketonuria 21
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome 20
Psychiatric disturbances in adolescent and adult phenylketonuric patients 20
Unraveling the Relationship between Sleep Problems, Emotional Behavior Disorders, and Stressful Life Events in Preschool Children 19
Optic neuropathy in an adult PKU patient during long term follow-up 19
The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review 19
Disturbo del neurosviluppo e parkinsonismo-distonia ad esordio tardivo nel deficit di DNAJC12 17
Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria 17
null 15
Neuroimaging in early-treated phenylketonuria patients and clinical outcome: A systematic review 13
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism 13
Caratterizzazione fenotipica ed outcome della forma recessiva di DYT/PARKGCH1 12
Vulnerability and resilience to phenylalanine in PKU patients. 11
Encefalopatia epilettica correlata al gene KCNQ2: outcome a lungo termine in una paziente con 29 anni di follow-up 10
Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes 9
Pegvaliase therapy for phenylketonuria: Real-world case series and clinical insights 8
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency 7
Totale 2.850
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Categoria #
all - tutte 10.965
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 10.965
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020261 0 0 0 0 0 38 42 44 46 36 33 22
2020/2021242 16 19 40 20 16 5 10 9 24 43 20 20
2021/2022494 15 30 71 22 70 46 10 39 17 24 76 74
2022/2023526 81 91 22 77 56 60 15 33 41 13 22 15
2023/2024484 28 43 22 69 32 70 20 37 10 55 49 49
2024/2025525 39 112 54 121 92 107 0 0 0 0 0 0
Totale 2.850