IRIS Institutional Research Information System - AIR Archivio Istituzionale della Ricerca

LAMPERTI, COSTANZA
 Distribuzione geografica
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Continente #
EU - Europa 6.932
NA - Nord America 6.244
AS - Asia 6.185
Continente sconosciuto - Info sul continente non disponibili 913
SA - Sud America 584
AF - Africa 132
OC - Oceania 33
Totale 21.023
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Nazione #
US - Stati Uniti d'America 5.903
CN - Cina 1.862
GB - Regno Unito 1.816
SG - Singapore 1.574
IT - Italia 1.295
DE - Germania 1.142
BD - Bangladesh 590
SE - Svezia 567
VN - Vietnam 529
HK - Hong Kong 491
RU - Federazione Russa 476
FR - Francia 375
IN - India 372
BR - Brasile 367
UA - Ucraina 280
CA - Canada 252
NL - Olanda 238
FI - Finlandia 191
TR - Turchia 190
IE - Irlanda 183
KR - Corea 165
EU - Europa 141
JP - Giappone 110
CO - Colombia 89
ID - Indonesia 63
CI - Costa d'Avorio 61
DK - Danimarca 56
ES - Italia 55
PL - Polonia 51
AR - Argentina 44
MX - Messico 39
BE - Belgio 37
GR - Grecia 34
AU - Australia 32
IQ - Iraq 31
MY - Malesia 23
UZ - Uzbekistan 22
EC - Ecuador 21
IL - Israele 21
CL - Cile 20
PK - Pakistan 20
RO - Romania 20
ZA - Sudafrica 19
AT - Austria 18
VE - Venezuela 18
PT - Portogallo 16
TW - Taiwan 15
MA - Marocco 14
CH - Svizzera 13
CZ - Repubblica Ceca 13
PH - Filippine 11
SA - Arabia Saudita 11
HU - Ungheria 10
CR - Costa Rica 9
AE - Emirati Arabi Uniti 8
KE - Kenya 8
UY - Uruguay 8
AZ - Azerbaigian 7
GT - Guatemala 7
HN - Honduras 7
JM - Giamaica 7
JO - Giordania 7
KG - Kirghizistan 7
NP - Nepal 7
IR - Iran 6
KH - Cambogia 6
LT - Lituania 6
NO - Norvegia 6
PY - Paraguay 6
BO - Bolivia 5
DZ - Algeria 5
EG - Egitto 5
LV - Lettonia 5
PE - Perù 5
TN - Tunisia 5
AL - Albania 4
AM - Armenia 4
KW - Kuwait 4
LU - Lussemburgo 4
BA - Bosnia-Erzegovina 3
KZ - Kazakistan 3
MD - Moldavia 3
PS - Palestinian Territory 3
SI - Slovenia 3
SN - Senegal 3
TH - Thailandia 3
TT - Trinidad e Tobago 3
BG - Bulgaria 2
BH - Bahrain 2
BN - Brunei Darussalam 2
CY - Cipro 2
ET - Etiopia 2
GL - Groenlandia 2
HR - Croazia 2
LB - Libano 2
LK - Sri Lanka 2
NI - Nicaragua 2
OM - Oman 2
PA - Panama 2
SC - Seychelles 2
Totale 20.214
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Città #
Southend 1.537
Singapore 902
Ashburn 673
Chandler 463
Hong Kong 447
Beijing 398
Milan 299
San Jose 262
Council Bluffs 254
Santa Clara 252
Jacksonville 250
Frankfurt am Main 231
Seattle 218
Princeton 208
Dublin 180
Dallas 171
Los Angeles 171
Wilmington 167
Bengaluru 151
New York 148
Ho Chi Minh City 139
Hanoi 133
Toronto 129
Houston 116
Ann Arbor 109
Nanjing 107
Redmond 103
Lauterbourg 100
Helsinki 88
Buffalo 87
Hefei 86
Dearborn 85
Mountain View 85
Rome 76
Boardman 74
Des Moines 73
Bogotá 71
Serra 71
Fairfield 68
Shanghai 68
Munich 67
Moscow 66
Sakarya 66
Andover 65
Abidjan 61
Guangzhou 60
Woodbridge 58
Tokyo 57
Somerville 49
Jinan 46
Kiez 44
Bologna 43
Warsaw 43
Margão 41
Naples 41
Shenyang 41
Tianjin 40
Nanchang 36
Jakarta 35
Columbus 34
Athens 33
Dong Ket 33
Changsha 32
Fuzhou 32
Nürnberg 32
Phoenix 32
Ottawa 31
Nuremberg 30
São Paulo 30
Medford 29
Da Nang 28
London 28
Istanbul 27
Redwood City 27
The Dalles 27
Cangzhou 26
Turin 26
Bitonto 25
Hangzhou 25
Scranton 25
Bari 24
Berlin 24
Cambridge 24
Grafing 24
San Diego 24
Hebei 23
Zhengzhou 23
Auburn Hills 22
Florence 22
Haiphong 20
Kunming 20
Ponte San Pietro 20
Seoul 20
Turku 20
Verona 20
Brussels 19
Atlanta 18
Charlotte 18
Edinburgh 17
Boston 16
Totale 11.239
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Nome #
Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patients 631
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy 442
La canalopatia del cloro : diagnosi clinica differenziale 399
Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of Andersen Disease associated with a new mutation in GBE1 gene 341
The mitochondrial disulfide relay system protein GFER is mutated in autosomal recessive myopathy with congenital cataract and COX deficiency. 320
Muscle pain in mitochondrial diseases: a picture from the Italian network 315
The mitochondrial disulfide relay system protein GFER is mutated in sutosomal-tecessive myopathy with vataract and vombined respiratory-chain deficiency 300
New missense variants of NDUFA11 associated with late-onset myopathy 291
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy 285
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients 272
Autosomal Recessive Ala93Thr mutation in caveolin-3 gene : a new family 260
Autosomal dominant and recessive limb-girdle muscular dystrophies : clinical, genetic relative frequency in a large Italian population 259
Mitochondrial respiratory chain dysfunction in muscle from patients with Amyotrophic Lateral Sclerosis 258
Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model 257
Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of Andersen disease associated with a new mutation in GBE gene 256
Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation 252
Functional and structural modifications of dystrophic muscles after autologous transplantation of muscle-derived AC133+ stem cells 251
Genetic and ultrastructural findings in Selenoprotein N1-related congenital myopathies 251
Familial amyotrophic lateral sclerosis with a novel Q23R mutation in the copper/zinc superoxide dismutase gene associated with muscle mitochondrial dysfunction 249
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up 248
Therapeutic Approaches to Treat Mitochondrial Diseases: “One-Size-Fits-All” and “Precision Medicine” Strategies 248
Peculiar ultrastructural findings in congenital myopathies due to selenoprotein N1 gene new mutations 245
Limb-Girdle muscular dystrophies : clinical features and genetic frequency in a large Italian population 243
Stop codons, duplicazioni e delezioni: caratterizzazione genetica e follow-up clinico in una coorte di 201 pazienti affetti da distrofia Muscolare di Duchenne 243
Novel Q23R SOD1 mutation associated with muscle mitochondrial dysfunction 239
Leber's hereditary optic neuropathy : A report on novel mtDNA pathogenic variants 236
Molecular epidemiology and clinical features of a large Italian cohort of 291 dystrophinopathic patients. 229
Studio retrospettivo di biopsie muscolari di pazienti con possibile diagnosi di miopatia miofibrillare 228
Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment 228
Muscular Dystrophy : Central Nervous System {alpha}-Dystroglycan Glycosylation Defects and Brain Malformation 224
Dysferlinopathies: clinical and genetic correlation in a large population 223
A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy 220
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting 218
Follow-up of a large population of asymptomatic / oligosymptomatic hyperckemic subjects. 217
Clinical and genetical variability in a large sample of LGMD Italian patients 215
Autologous transplantation of AC133+ stem cells in Duchenne muscular Dystrophy : preclinical and clinical evidences 210
Bank of DNA, cell lines and nerve-muscle-cardiac tissues 210
Clinical and pathological aspects of an Italian patient with inclusion body myopathy and frontotemporal dementia carrying a novel mutation in valosin-containing protein gene 208
Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients 208
Autologous transplantation of AC133+ stem cells in Duchenne muscular Dystrophy : preclinical and clinical evidences 207
A Late Role of ANT-1 Overexpression in the Pathogenesis of FSHD 206
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia 201
Novel SOD1 Q23R mutation associated with muscle mitochondrial dysfunction in familial ALS International Meeting “Mutant SOD1 and familial ALS: from the molecule to man 199
Adult Form Type II Glycogen Storage Disease in a Northern Italy Population : Phenotype Characterization, Early Diagnosis and Prognostic Determinants 197
Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction 195
Autosomal dominant and recessive limb-girdle muscular dystrophies: relative frequency in a large Italian population 194
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia 193
Adult form type II Glycogen Storage Disease in a Northern Italy population :_phenotype, charatcerization, early diagnosis and prognostic determinants 193
DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E) 190
Autologous Transplantation of Ac133+ stem cells in Duchenne Muscular Dystrophy 189
Comprehensive genetic analysis and clinical follow-up findings in 203 DMD patients 189
Clinical and genetic heterogeneity of dysferlin deficiency 186
One gene, two clinical profiles:novel GBE1 mutations in GSD type IV and Adult Polyglucosan Body Disease. 185
A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies 184
Facio-Scapulo-Humeral dystrophy (FSMD) : morphological characterization of mouse model 182
Clinical and pathological aspects of an Italian patient with inclusion body myopathy and frontotemporal dementia carrying a novel mutation in valosin-containing protein gene 181
Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy 181
Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies 179
Dysferlinopathies : muscle annexin A1 and A2 expression levels correlate with clinical phenotype in a large group of genetically diagnosed patients 178
A mouse model of facioscapulohumeral muscular dystrophy 177
Purkinje cell mitochondrial oxidative defect in the animal model of spinocerebellar ataxia type 1 Clinical and pathological aspects of an Italian patient with inclusion body myopathy and frontotemporal dementia carrying a novel mutation in valosin-containing protein gene. 176
Spontaneous hydro(syringo)myelic cavity in two unrelated patients with late onset pompe disease: is this a fortuitous association? 175
Clinical and pathological aspects of an Italian patient with inclusion body myopathy and frontotemporal dementia carrying a novel mutation in valosin-containing protein gene. 174
Eight novel mutations in SPG4 gene in a large sample of patients with hereditary spastic paraplegia 173
COQ 10 deficiency in statin related Myopathy. 173
Novel CLCN1 gene mutation associated with myotonia congenita in Italian patients. 173
Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3 172
Statin related Myopathy and Co Q 10 deficiency 169
Miopatia infiammatoria associata a grave insufficienza neonatale 168
Intrafamilial phenotype-genotype variability in FSHD 168
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement 165
Muscle Coenzyme Q10 Level in Statin-Related Myopathy 164
Neuropathological study of skeletal muscle, heart, liver, and brainin a neonatal form of glycogen storage disease type IV associated with a newmutation in GBE1 gene 160
Retrospective study of a population of patients affected by myofibrillar myopathies at muscle biopsy. 160
Infantile inflammatory myopathy presenting as SMARD 1V 160
Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature 159
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy 158
The mitochondrial disulfide relay system protein GFER is mutated in autosomal recessive myopathy with congenital cataract and COX deficiency 156
A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy 153
Current and new next-generation sequencing approaches to study mitochondrial DNA 153
Eight Novel Mutations in SPG4 in a Large Sample of Patients With Hereditary Spastic Paraplegia 151
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases 150
Hypokalaemic periodic paralysis: a new nonsense mutation in KCNJ 2 gene 149
Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor 146
Congenital muscular dystrophy with muscle inflammation, alpha dystroglycan glycosylation defect and no mutation in FKRP gene 143
Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency 141
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions 139
Malattie mitocondriali : studio istologico 135
De novo small duplication in Lamin A/C gene associated with congenital muscular dystrophy phenotype. 133
McArdle disease: the mutation spectrum of PYGM in a large Italian cohort 128
Oxidative defect in a large cohort of genetically-determined SMA cases 128
Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort 125
Myoclonus in mitochondrial disorders 124
Redefining phenotypes associated with mitochondrial DNA single deletion 123
Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study 115
Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions 110
Ultrastructural mitochondrial abnormalities in sporadic amyotrophic lateral sclerosis patients 109
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant 108
Incontinence in late-onset pompe disease : an underdiagnosed treatable condition 101
A novel homozygous mutation in SUCLA2 gene identified by exome sequencing 93
Totale 20.275
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Categoria #
all - tutte 53.221
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 53.221
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.019 0 47 21 68 56 62 105 56 162 105 99 238
2022/20231.642 203 166 110 180 218 303 35 103 177 25 72 50
2023/20241.412 36 82 92 90 347 124 82 92 74 77 136 180
2024/20252.785 121 225 72 313 223 125 89 262 153 279 266 657
2025/20266.163 608 331 503 450 521 397 722 306 539 494 657 635
2026/2027910 469 441 0 0 0 0 0 0 0 0 0 0
Totale 21.023