CNR Institutional Research Information System

RUGGIERI, MARTINO
 Distribuzione geografica
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Continente #
AS - Asia 1.135
NA - Nord America 682
EU - Europa 318
SA - Sud America 297
AF - Africa 22
OC - Oceania 5
Totale 2.459
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Nazione #
US - Stati Uniti d'America 658
SG - Singapore 512
CN - Cina 251
BR - Brasile 237
VN - Vietnam 122
HK - Hong Kong 100
FR - Francia 75
NL - Olanda 70
IT - Italia 66
JP - Giappone 37
KR - Corea 36
DE - Germania 19
AR - Argentina 18
FI - Finlandia 18
IN - India 18
GB - Regno Unito 17
ID - Indonesia 11
BD - Bangladesh 10
CA - Canada 10
EC - Ecuador 10
ES - Italia 10
MX - Messico 10
ZA - Sudafrica 8
CL - Cile 7
CO - Colombia 7
PY - Paraguay 7
RU - Federazione Russa 7
SA - Arabia Saudita 7
IL - Israele 6
IQ - Iraq 6
UA - Ucraina 5
VE - Venezuela 5
AU - Australia 4
MA - Marocco 4
TN - Tunisia 4
TR - Turchia 4
AT - Austria 3
EG - Egitto 3
PA - Panama 3
PE - Perù 3
PH - Filippine 3
PK - Pakistan 3
PL - Polonia 3
UY - Uruguay 3
AZ - Azerbaigian 2
BE - Belgio 2
BG - Bulgaria 2
BY - Bielorussia 2
IE - Irlanda 2
LT - Lituania 2
LV - Lettonia 2
RO - Romania 2
RS - Serbia 2
SK - Slovacchia (Repubblica Slovacca) 2
TH - Thailandia 2
AM - Armenia 1
CG - Congo 1
CH - Svizzera 1
CZ - Repubblica Ceca 1
DK - Danimarca 1
GR - Grecia 1
HR - Croazia 1
IR - Iran 1
KE - Kenya 1
KI - Kiribati 1
KW - Kuwait 1
ML - Mali 1
MY - Malesia 1
NI - Nicaragua 1
NO - Norvegia 1
SE - Svezia 1
UZ - Uzbekistan 1
Totale 2.459
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Città #
Santa Clara 318
Singapore 310
Hong Kong 99
Hefei 89
Ashburn 69
Lauterbourg 55
Ho Chi Minh City 48
San Jose 39
Seoul 36
Beijing 31
Tokyo 31
Hanoi 25
São Paulo 24
Los Angeles 22
Helsinki 16
New York 13
Buffalo 12
Dallas 12
Naples 11
Rio de Janeiro 11
Frankfurt am Main 7
Hải Dương 7
Milan 7
Orem 6
Belo Horizonte 5
Biên Hòa 5
Düsseldorf 5
Johannesburg 5
Minamishinagawa 5
Montreal 5
Amsterdam 4
Bengaluru 4
Bogotá 4
Chennai 4
Da Nang 4
Denver 4
Guarulhos 4
Jeddah 4
Phoenix 4
Porto Alegre 4
Rome 4
Salvador 4
Thái Bình 4
Anápolis 3
Atlanta 3
Baghdad 3
Belém 3
Bologna 3
Bắc Giang 3
Ciudad del Este 3
Elk Grove Village 3
Guayaquil 3
Houston 3
Joinville 3
Kyiv 3
Lucca 3
Manila 3
Marbella 3
Poplar 3
Portsmouth 3
Quito 3
San Bernardo 3
Sorocaba 3
Surabaya 3
Sydney 3
São Gonçalo 3
Tunis 3
Valenzano 3
Vinh 3
Aracaju 2
Asunción 2
Baku 2
Barbacena 2
Barinas 2
Barretos 2
Belgrade 2
Bolzano 2
Bratislava 2
Brussels 2
Bắc Ninh 2
Cairo 2
Campos dos Goytacazes 2
Can Tho 2
Canaã dos Carajás 2
Cardito 2
Caxias do Sul 2
Chicago 2
Council Bluffs 2
Diadema 2
Falkenstein 2
Florence 2
Hòa Bình 2
Itaguaí 2
Itajaí 2
Jacksonville 2
Jakarta 2
La Paz 2
Lahore 2
Lang Son 2
Lappeenranta 2
Totale 1.520
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Nome #
Neurofibromatosis type 1 & related disorders 154
NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders 79
Ophthalmological manifestations in segmental neurofibromatosis type I 75
Seizures and epilepsy in neurofibromatosis type 1 (NF1): a genotype-phenotype study. 68
Scimitar vein anomaly with multiple cardiac malformations, craniofacial and central nervous system abnormalities in a brother and sister: familial scimitar anomaly or new syndrome? 67
From Aldrovandi's Homuncio (1592) to Buffon s girl (1749) and the Wart Man of Tilesisus (1793): antique illustrations of mosaicism in neurofibromatosis ? 63
The Many Faces of Child Abuse: How Clinical, Genetic and Epigenetic Correlates Help Us See the Full Picture 49
NEUROFIBROMATOSIS TYPE 2 (NF2) IN A CHILD UNDER 1 YEAR OF AGE: A CLINICAL AND MOLECULAR STUDY 48
Pseudohypoparathyroidism Ia with Evans syndrome. 48
Sclerosi Tuberosa 48
Natural History of Neurofibromatosis Type 2 (NF2) in the Paediatric Age: a Prospective Clinical (and Molecular) Study 44
Infantile spasms in the setting of Sturge-Weber syndrome. 43
Analisi mutazionale del gene NF1 in pazienti del sud Italia affetti da Neurofibromatosi di tipo I: identificazione di 21 nuove mutazioni 42
Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients. 42
Neurocutaneous Disorders. Phakomatoses & Hamartoneoplastic Syndromes 41
Neurocutaneous Diseases 41
Familial infantile hypertrophic pyloric stenosis. 41
Low prevalence of neurologic and psychiatric manifestations in children with gluten sensitivity. 40
Extracorporeal Membrane Oxygenation as Life Support in Neonatal Respiratory Failure: A Single-Center Cohort Study and a Systematic Review 40
Neurofibromatosis type 1 and infantile spasms. 40
Multiple sclerosis in children under 10 years of age 39
Cataracts in the setting of a neurocutaneous malformation syndrome with cutis tricolor 39
A Young Boy with 21q21.1 Microdeletion Showing Speech Delay, Spastic Diplegia, and MRI Abnormalities: Original Case Report 38
Neonatal onset of hot water reflex seizures in monozygotic twins subsequently manifesting episodes of alternating hemiplegia. 38
Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors 38
Seizures and epilepsy in neurofibromatosis type 1 (NF1): a genotype-phenotype study. 38
Neurofibromatosis type 1 and infantile spasms. 38
Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients. 38
A child with congenital heart disease and situs viscerum inversus. 37
Seizures and Epilepsy in the Setting of Neurofibromatosis Type 1 (NF1): a Population-Based, Genotype-Phenotype Study 35
Two siblings with a homozygous MTHFR C677T (G80A-RFC1) mutation and stroke. 35
Congenital lymphedema-lymphangiectasia associated with scrotal angiokeratoma (Fordyce Type) and hearing impairment. 35
Temporal triangular alopecia in a mother and her daughter associated with mental retardation and seizures. Arch Dermatol 2000:136:426-427 32
Delineation of a newly recognised neurocutaneous malformation syndrome with cutis tricolor 32
NRXN1-related disorders, attempt to better define clinical assessment 32
Rhomboencephalosynapsis plus associated with hand abnormalities 31
Voluntary selective big toe dorsal flection: pseudo-Babinski phenomenon? 31
Hypomelanosis of Ito 31
Polyneuritis cranialis: full recovery after intravenous immunoglobulins. 30
A CLINICAL AND MOLECULAR STUDY IN A CHILD UNDER 1 YEAR OF AGE AFFECTED BY NEUROFIBROMATOSIS TYPE 2 30
The Neurofibromatoses: clinical manifestations, diagnosis and natural history 30
Sindromi neurocutanee 29
A NOVEL MISSENSE MUTATION OF THE NF2 GENE IN A SEVERELY AFFECTED BOY AND HIS HEALTHY FATHER 29
Clinical features and viral serologies in children with multiple sclerosis: a multinational observational study. 29
The Neurofibromatoses 28
A Systematic Review of Cutaneous Hypopigmentation Disorder Associated with Neurologic Involvement 28
Twenty novel mutations revealed by DHPLC analysis of the Neurofibromatosis Type 1 (NF1) gene in Southern Italian NF1 Patients 28
Callosal anomalies with interhemispheric cyst: expanding the phenotype 28
Neurologia Pediatrica 28
Twenty novel mutations revealed by DHPLC analysis of the Neurofibromatosys type 1 (NF1) gene in unselected southern Italian NF1 patients 28
The Problem of Alternative Therapies in Autism 27
Absence of heart abnormalities in subjects not carryng large NF1 gene deletions 27
Mutational analysis in NF1 patients screened for heart abnormalities 27
Rotavirus and celiac disease 27
Bilateral periventricular nodular heterotopia with amniotic band syndrome 25
Neurocutaneous Disorders: Phakomatoses & Hamartoneoplastic syndromes 25
Severe Unilateral Microtia with Aural Atresia, Hair White Patch, Stereotypes in a Young Boy with De novo 16p13.11 Deletion: Reasons for a New Genotype-Phenotype Correlation 25
Unusual phenotypes in Septo-optic dysplasia complex 25
Ophthalmological manifestations in segmental (localised) neurofirbomatosis type 1 (NF1) 24
Mutational analysis in NF1 patients screened for heart abnormalities 24
Choroidal abnormalities and mental retardation in neurofibromatosis type 1 23
Seizures are not a predominant feature of primary autism 23
A novel missense mutation of the NF2 gene in a severely affected boy and his healthy father 23
The Neurofibromatoses : clinical manifestations, natural history and management 22
Septo-optic dysplasia complex: a heterogeneous malformation syndrome 20
Hypertrichosis cubiti (hairy elbow syndrome): a clue to a malformation syndrome 19
Totale 2.481
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Categoria #
all - tutte 7.228
article - articoli 4.325
book - libri 466
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 864
Totale 12.883
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/20242 0 0 0 0 0 0 0 0 1 0 0 1
2024/2025992 1 4 76 35 311 21 3 32 38 87 185 199
2025/20261.487 53 229 100 258 303 37 168 90 102 83 64 0
Totale 2.481