IRIS
MALANDRINI, ALESSANDRO
 Distribuzione geografica
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Continente #
NA - Nord America 14.452
EU - Europa 9.754
AS - Asia 1.775
SA - Sud America 31
Continente sconosciuto - Info sul continente non disponibili 24
OC - Oceania 22
AF - Africa 21
Totale 26.079
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Nazione #
US - Stati Uniti d'America 14.399
GB - Regno Unito 3.141
IE - Irlanda 1.666
CN - Cina 1.280
UA - Ucraina 1.070
SE - Svezia 884
IT - Italia 658
RU - Federazione Russa 649
DE - Germania 558
FR - Francia 507
FI - Finlandia 325
SG - Singapore 301
ES - Italia 103
VN - Vietnam 60
TR - Turchia 57
BE - Belgio 56
NL - Olanda 46
CA - Canada 43
EU - Europa 22
CZ - Repubblica Ceca 20
AU - Australia 18
CI - Costa d'Avorio 14
IN - India 12
PL - Polonia 12
IR - Iran 10
JP - Giappone 9
BG - Bulgaria 8
BR - Brasile 8
CL - Cile 7
PE - Perù 7
AT - Austria 6
GR - Grecia 6
HK - Hong Kong 6
IL - Israele 6
RO - Romania 6
TW - Taiwan 5
CH - Svizzera 4
DK - Danimarca 4
EC - Ecuador 4
HU - Ungheria 4
NZ - Nuova Zelanda 4
AR - Argentina 3
DO - Repubblica Dominicana 3
ID - Indonesia 3
LA - Repubblica Popolare Democratica del Laos 3
LT - Lituania 3
LV - Lettonia 3
MA - Marocco 3
MX - Messico 3
PA - Panama 3
PT - Portogallo 3
AE - Emirati Arabi Uniti 2
AZ - Azerbaigian 2
CO - Colombia 2
EG - Egitto 2
HR - Croazia 2
KZ - Kazakistan 2
MD - Moldavia 2
MK - Macedonia 2
MY - Malesia 2
PH - Filippine 2
PK - Pakistan 2
UZ - Uzbekistan 2
A1 - Anonimo 1
A2 - ???statistics.table.value.countryCode.A2??? 1
AL - Albania 1
BA - Bosnia-Erzegovina 1
BD - Bangladesh 1
EE - Estonia 1
GE - Georgia 1
IM - Isola di Man 1
IQ - Iraq 1
KG - Kirghizistan 1
KW - Kuwait 1
LK - Sri Lanka 1
MM - Myanmar 1
RS - Serbia 1
SA - Arabia Saudita 1
SD - Sudan 1
SK - Slovacchia (Repubblica Slovacca) 1
TJ - Tagikistan 1
TT - Trinidad e Tobago 1
ZA - Sudafrica 1
Totale 26.079
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Città #
Southend 2.919
Menlo Park 2.652
Fairfield 1.934
Dublin 1.661
Chandler 1.052
Ashburn 999
Jacksonville 903
Woodbridge 890
Houston 843
Wilmington 754
Seattle 733
Cambridge 635
Ann Arbor 548
Princeton 337
Nanjing 310
Beijing 275
Singapore 215
Siena 198
Helsinki 145
Boardman 129
New York 121
Nanchang 119
San Diego 93
Málaga 90
San Mateo 86
Tianjin 72
Moscow 70
Shenyang 66
Hebei 60
Shanghai 57
Izmir 49
Dong Ket 47
London 44
Lancaster 40
Rome 40
Venezia 40
Jinan 39
Norwalk 39
Changsha 37
Kunming 37
Dearborn 35
Brussels 34
Munich 33
Jiaxing 31
Düsseldorf 30
Toronto 29
Washington 29
San Francisco 28
Florence 22
Waanrode 22
Los Angeles 20
Milan 19
Zhengzhou 19
Hangzhou 18
Ningbo 18
Dallas 16
Guangzhou 15
Abidjan 14
Taizhou 14
Brno 13
Hefei 13
Redwood City 13
Renton 12
Chicago 11
Fremont 10
Kilburn 10
Atlanta 9
Bonndorf 9
Hounslow 9
Haikou 8
Sofia 8
Tappahannock 8
Frankfurt am Main 7
Lanzhou 7
Philadelphia 7
Sydney 7
Arezzo 6
Changchun 6
Falls Church 6
Lima 6
Naples 6
Saint Petersburg 6
Vienna 6
Auburn Hills 5
Edinburgh 5
Elk Grove Village 5
Melbourne 5
Montespertoli 5
Padova 5
Phoenix 5
Shaoxing 5
Stockholm 5
Tokyo 5
Verona 5
Warsaw 5
Wuhan 5
Acton 4
Amsterdam 4
Athens 4
Berlin 4
Totale 20.108
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Nome #
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy 353
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients 285
A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL 282
Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia 212
Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum 212
Panatrophy of Gowers associated with primary antiphospholipid syndrome: Description of an unusual case [Panatrofia di Gowers associata a sindrome da anticorpi antifosfolipidi primitiva: descrizione di un caso singolare] 207
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: Update on clinical, diagnostic, and management aspects 207
Novel CSN syndrome and ectodermal dysplasia 206
Cerebellar ataxia associated with anti-glutamic acid decarboxylase antibodies: a case report 205
Electron-dense lamellated inclusions in 2 siblings with Kufor-Rakeb syndrome. 199
A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemia. 195
Growth of congenital malignant teratoid medulloepithelioma of the ciliary body: a case study 195
Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28 194
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1 193
Type I sialidosis: a clinical, biochemical and neuroradiological study 192
Typical pathological changes of CADASIL in the optic nerve 192
A case of dystonia with onset during pregnancy 191
Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)? 188
Homozygosity and severity of phenotypic presentation in a CADASIL family 187
A second MNGIE patient without typical mitochondrial skeletal muscle involvement 187
Peripheral neuropathy in late-onset Krabbe disease: report of three cases. 187
Polyneuropathy with demyelinating changes in Churg–Strauss syndrome: an unusual association 186
Juvenile Leigh syndrome with protracted course presenting as chronic sensory motor neuropathy, ataxia, deafness and retinitis pigmentosa: a clinicopathological report 186
Typical pathological changes of CADASIL in the optic nerve 185
A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss 183
Antibodies to dorsal root ganglia and olfactory cells in a patient with chronic sensory neuropathy and anosmia 183
A new missense mutation in caveolin-3 gene causes rippling muscle disease. 182
Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy 182
Neuropathological findings associated with retained lead shot pellets in a man surviving two months after a suicide attempt 181
Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis 180
Imaging of the thymus in myotonic dystrophy type 1 180
null 178
Congenital myopathies: Clinical phenotypes and new diagnostic tools 178
Vitamin E deficiency secondary to chronic intestinal malabsorption and effect of vitamin supplement: a case report 178
Diagnostic value of ultrastructural skin biopsy studies in CADASIL 177
Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation 174
Bilateral recurrent focal myositis of gastrocnemius muscles after BCG vaccination 172
SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing. 172
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 171
Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation. 170
Inclusion Body Myopathy-Like Changes in a Family with Cerebellar Atrophy, Mental Retardation and Abnormal Pupils. 169
First report of an Iraqi Kurdish CADASIL patient. 168
Phacoemulsificator and sterile drapes contamination during cataract surgery: a microbiological study 167
Adrenomyeloneurodystrophy with late cerebral involvement and evidence of a multiple autoimmune disorder 165
Optic atrophy in Marinesco-Sjögren syndrome: an additional ocular feature. Report of three cases in two families 164
Autonomic nervous system and smooth muscle cell invomvement in systemic sclerosis: ultrastructural study of three cases 162
Asymptomatic cores and paracrystalline mitochondrial inclusions in CADASIL. 161
Acute inflammatory neuropathy in Charcot-Marie-Tooth disease 161
Ataxia, mental deterioration, epilepsy in a family with dominant enamel hypoplasia: a variant of Kohlschütter-Tönz syndrome? 160
The first Italian patient with oculopharyngodistal myopathy: Case report and considerations on differential diagnosis. 159
Motor-sensory neuropathy with minifascicle formation in a woman with normal karyotype. 159
Transient periodic lateralised epileptiform discharges (PLEDs) following internal carotid artery stenting 158
Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI 158
Cerebro-ocular dysplasia and muscular dystrophy: report of two cases 157
Ectodermal dysplasia syndrome with eyebrow alopecia, ptosis, strabismus, nystagmus, joint laxity, cerebellar ataxia, and osteopenia 155
Clinical Course of Two Italian Siblings with Ataxia-Telangiectasia-Like Disorder. 155
null 155
Neuronal intranuclear inclusion disease: neuropathologic study of a case 154
Huntington's disease gene expansion associates with early onset nonprogressive chorea 154
Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions 153
Neuronal intranuclear inclusion disease: polymerase chain reaction and ultrastructural study of rectal biopsy specimen in a new case 153
Cortical periventricular heterotopia with ectodermal dysplasia 153
Early visual function impairment in CADASIL 152
Hereditary spastic paraplegia type 5: a potentially treatable disorder of cholesterol metabolism 152
A rare association of myasthenia gravis and mitochondrial myopathy: a clinical, biochemical and morphologic study of one case 152
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type 151
A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency. 150
A novel point mutation in the mitochondrial tRNA((Trp)) gene produces late-onset encephalomyopathy, plus additional features 150
Capsule contraction syndrome with a microincision foldable hydrophilic acrylic intraocular lens: two case reports and review of the literature 150
CADASIL and cerebrovascular diseases 148
A syndrome of bilateral hemorrhage of the thalamus and myocarditis with fatal course 148
Amiodarone induced lipidosis similar to Niemann-Pick C disease. Biochemical and morphological study 147
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 147
Unusual clinical features and early brain MRI lesions in a family with cerebral autosomal dominant arteriopathy 146
Transient "sicca syndrome" during phenobarbital treatment. 145
Chronic diarrhea associated with the A3243G mtDNA mutation 144
The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome 144
Hypertelorism, ptosis and myopia associated with drug-resistanr epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia. 144
Retinocytoma associated with calcified vitreous deposits 144
Association in the same patient of autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis: clinical, biochemical, histological, submicroscopic and molecular genetic study 143
null 143
Association of myopathy with multiple exostoses and mental retardation: a case report 142
Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA 142
Ultrastructural sperm abnormalities and cerebellar atrophy: does a correlation exist? Report of two cases without endocrine hypogonadism 142
A randomized prospective study comparing trabeculectomy with and without the use of a new removable suture 138
Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities 138
A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family 137
The spectrum of NOTCH3 mutation and phonotype variability in fourteen Italian families with CADASIL. 136
Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation 136
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity 136
Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy 134
Dementia, myoclonus, peripheral neuropathy, and lipid-like material in skin biopsy during psychotropic drug treatment 133
Rapidly progressive neurodegeneration in a case with the 7472insC mutation and the A7472C polymorphism in the mtDNA tRNA ser(UCN) gene. 133
The clinical aspects of adult hexosaminidase deficiencies 133
The T9176G mt DNA mutation severely affects AATP production and results in Leigh syndrome 132
Palpebral ptosis and muscle fatiguability associated with perineurial cell ensheathment of muscle fibers: a new disease of the neuromuscular junction? 132
Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene 132
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation 132
Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage 131
Treatment of macular edema because of occlusive vasculitis with bevacizumab (avastin): efficacy of three consecutive monthly injections 131
Totale 16.737
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Categoria #
all - tutte 76.906
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 76.906
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20203.035 0 0 0 0 369 358 426 611 438 424 108 301
2020/20213.651 169 389 131 336 182 441 159 584 441 235 359 225
2021/20222.420 172 333 143 185 120 49 137 92 107 262 268 552
2022/20233.565 229 267 511 499 349 704 47 289 360 125 114 71
2023/20242.494 98 54 242 137 72 716 864 70 33 40 16 152
2024/20251.146 75 277 423 242 129 0 0 0 0 0 0 0
Totale 26.321