Catalogo dei prodotti della ricerca

TOLVE, MANUELA
 Distribuzione geografica
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Continente #
NA - Nord America 2.084
AS - Asia 1.148
EU - Europa 972
Continente sconosciuto - Info sul continente non disponibili 168
SA - Sud America 154
AF - Africa 44
OC - Oceania 12
Totale 4.582
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Nazione #
US - Stati Uniti d'America 1.974
IT - Italia 575
SG - Singapore 432
HK - Hong Kong 179
CN - Cina 158
VN - Vietnam 145
BR - Brasile 117
DE - Germania 104
IN - India 87
CA - Canada 75
FI - Finlandia 60
BD - Bangladesh 49
SE - Svezia 41
FR - Francia 37
RU - Federazione Russa 36
GB - Regno Unito 30
ID - Indonesia 17
JP - Giappone 16
NL - Olanda 15
CI - Costa d'Avorio 13
MA - Marocco 13
AR - Argentina 12
AT - Austria 12
AU - Australia 12
IE - Irlanda 10
ZA - Sudafrica 10
CZ - Repubblica Ceca 9
IQ - Iraq 9
MX - Messico 9
PK - Pakistan 9
BE - Belgio 8
UA - Ucraina 8
VE - Venezuela 8
KR - Corea 7
ES - Italia 6
JM - Giamaica 6
MY - Malesia 6
PH - Filippine 6
PL - Polonia 6
AE - Emirati Arabi Uniti 5
BG - Bulgaria 5
TR - Turchia 5
UZ - Uzbekistan 4
AZ - Azerbaigian 3
BZ - Belize 3
CL - Cile 3
CO - Colombia 3
CR - Costa Rica 3
EC - Ecuador 3
NI - Nicaragua 3
TN - Tunisia 3
TT - Trinidad e Tobago 3
BB - Barbados 2
EE - Estonia 2
ET - Etiopia 2
GT - Guatemala 2
KG - Kirghizistan 2
LT - Lituania 2
NP - Nepal 2
PE - Perù 2
PY - Paraguay 2
RO - Romania 2
SA - Arabia Saudita 2
UY - Uruguay 2
AL - Albania 1
AM - Armenia 1
BO - Bolivia 1
CH - Svizzera 1
DO - Repubblica Dominicana 1
EG - Egitto 1
GY - Guiana 1
HN - Honduras 1
HR - Croazia 1
IL - Israele 1
JO - Giordania 1
KN - Saint Kitts e Nevis 1
MD - Moldavia 1
PR - Porto Rico 1
SN - Senegal 1
SY - Repubblica araba siriana 1
TG - Togo 1
TH - Thailandia 1
Totale 4.414
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Città #
Ashburn 238
Singapore 231
San Jose 193
Hong Kong 164
Fairfield 157
Rome 150
Milan 94
Chandler 85
Los Angeles 67
Seattle 63
Woodbridge 62
Dallas 61
Wilmington 59
Ho Chi Minh City 53
Santa Clara 53
New York 51
Houston 47
Munich 42
Cambridge 41
Beijing 40
Ottawa 32
Council Bluffs 28
Frankfurt am Main 28
Princeton 27
Hanoi 26
Turku 24
Buffalo 23
Denver 21
Torre del Greco 20
Dearborn 18
Toronto 18
The Dalles 17
Chicago 16
Cosenza 16
Lauterbourg 16
Lawrence 15
Millbury 15
Plano 15
Phoenix 14
San Diego 14
San Paolo di Civitate 14
Tokyo 14
Abidjan 13
Boardman 13
Helsinki 13
Jakarta 13
Lappeenranta 13
São Paulo 13
Da Nang 12
Figino 12
Naples 12
Casablanca 11
Hillsboro 11
Turin 11
Boston 10
Falkenstein 10
Moscow 10
Nuremberg 10
Redondo Beach 10
Ann Arbor 9
Florence 9
Como 8
Dublin 8
Bengaluru 7
Brussels 7
Johannesburg 7
Norwalk 7
Brno 6
Montreal 6
Orem 6
Piscataway 6
Vienna 6
Andover 5
Atlanta 5
Boydton 5
Brooklyn 5
Chennai 5
Fremont 5
Guangzhou 5
London 5
Madrid 5
Mexico City 5
Palermo 5
Queens 5
Stockholm 5
Washington 5
Baghdad 4
Clementon 4
Columbus 4
Giugliano In Campania 4
Haiphong 4
Hefei 4
Jinan 4
Lancaster 4
Miami 4
Mumbai 4
Paris 4
Salt Lake City 4
Sofia 4
Tianjin 4
Totale 2.797
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Nome #
KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes 230
Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO) 220
PRICKLE1-related early onset epileptic encephalopathy 213
Molecular analysis of PKU-associated PAH mutations: a fast and simple genotyping test 200
Pnkp deficiency mimicking a benign hereditary chorea. the misleading presentation of a neurodegenerative disorder 198
Pyridoxine-5'-phosphate oxidase (pnpo) deficiency. clinical and biochemical alterations associated with the c.347g>a (pp. arg116gln) mutation 191
A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies 182
Corrigendum to “Pyridoxine-5′-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g > A (P.·Arg116gln) mutation” [Mol. Genet. Metab. 122/1–2 (2017) 135–142] 181
Genetic paradoxes in an italian family with PARK2 multiexon duplication 179
Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan 160
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency 156
Clinical variability at the mild end of BRAT1‐related spectrum:evidence from two families with genotype–phenotype discordance 152
A NEW CASE OF MALONIC ACIDURIA: EARLY DIAGNOSIS AND TREATMENT 133
The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review 132
A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment 125
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 125
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism 124
Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes 123
Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency 123
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene 123
Genotype-phenotype correlation study through protein model of 3- methylcrotonyl-CoA carboxylase 122
The burden of epilepsy on long-term outcome of genetic developmental and epileptic encephalopathies: A single tertiary center longitudinal retrospective cohort study 121
Caratterizzazione fenotipica ed outcome della forma recessiva di DYT/PARKGCH1 120
Rest tremor as very early presenting symptom of sepiapterin reductase deficiency (SRD) 109
Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male 107
Epilepsy phenotypes across the different age-ranges in IQSEC2-related encephalopathy: An Italian multicentre retrospective cohort study 104
Outcome in short chain acyl-CoA dehydrogenase deficiency (SCADD) detected by newborn screening (NBS) 102
Very early pattern of movement disorders in sepiapterin reductase deficiency. 99
GAMT Deficiency: Clinical Presentation, Treatment, Diagnosis, Animal Models, Preclinical and Clinical Developments. 92
Milder Form of Cobalamin C Disease May Be Missed by Newborn Screening: The Importance of Methylmalonic Acid Assessment 77
Developmental and Epileptic Encephalopathy as a Novel Clinical Hallmark of SCA21 49
Epilepsy phenotypes of Renu syndrome: Novel insights from a European multicentre retrospective cohort study 43
DNAJC12 Disease: Clinical Spectrum and Long-Term Outcomes 42
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Totale 4.582
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Categoria #
all - tutte 12.637
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 12.637
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022219 0 0 0 7 42 16 8 23 31 16 39 37
2022/2023291 44 42 10 53 33 22 9 22 34 6 11 5
2023/2024190 9 22 9 19 19 39 4 11 2 21 17 18
2024/2025791 29 31 27 60 47 47 59 48 127 68 57 191
2025/20261.795 196 71 117 151 194 87 280 62 194 186 129 128
2026/2027547 110 174 197 66 0 0 0 0 0 0 0 0
Totale 4.582