IRIS
MALANDRINI, ALESSANDRO
 Distribuzione geografica
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Continente #
NA - Nord America 14.357
EU - Europa 9.269
AS - Asia 1.541
SA - Sud America 26
Continente sconosciuto - Info sul continente non disponibili 24
OC - Oceania 20
AF - Africa 6
Totale 25.243
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Nazione #
US - Stati Uniti d'America 14.310
GB - Regno Unito 3.138
IE - Irlanda 1.666
CN - Cina 1.249
UA - Ucraina 1.070
SE - Svezia 883
IT - Italia 605
DE - Germania 545
FR - Francia 506
FI - Finlandia 321
RU - Federazione Russa 255
SG - Singapore 110
ES - Italia 102
VN - Vietnam 59
BE - Belgio 56
TR - Turchia 56
NL - Olanda 42
CA - Canada 41
EU - Europa 22
CZ - Repubblica Ceca 20
AU - Australia 16
IN - India 12
PL - Polonia 11
IR - Iran 10
JP - Giappone 9
BG - Bulgaria 7
AT - Austria 6
BR - Brasile 6
IL - Israele 6
PE - Perù 6
RO - Romania 6
CL - Cile 5
GR - Grecia 5
TW - Taiwan 5
CH - Svizzera 4
EC - Ecuador 4
HK - Hong Kong 4
HU - Ungheria 4
NZ - Nuova Zelanda 4
AR - Argentina 3
DK - Danimarca 3
DO - Repubblica Dominicana 3
ID - Indonesia 3
LA - Repubblica Popolare Democratica del Laos 3
CO - Colombia 2
EG - Egitto 2
HR - Croazia 2
MA - Marocco 2
MK - Macedonia 2
MY - Malesia 2
PA - Panama 2
UZ - Uzbekistan 2
A1 - Anonimo 1
A2 - ???statistics.table.value.countryCode.A2??? 1
AE - Emirati Arabi Uniti 1
AL - Albania 1
BA - Bosnia-Erzegovina 1
BD - Bangladesh 1
EE - Estonia 1
IM - Isola di Man 1
IQ - Iraq 1
KG - Kirghizistan 1
KW - Kuwait 1
KZ - Kazakistan 1
LK - Sri Lanka 1
LT - Lituania 1
LV - Lettonia 1
MD - Moldavia 1
MM - Myanmar 1
PH - Filippine 1
PK - Pakistan 1
PT - Portogallo 1
RS - Serbia 1
SA - Arabia Saudita 1
SD - Sudan 1
SK - Slovacchia (Repubblica Slovacca) 1
TT - Trinidad e Tobago 1
ZA - Sudafrica 1
Totale 25.243
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Città #
Southend 2.919
Menlo Park 2.652
Fairfield 1.934
Dublin 1.661
Chandler 1.052
Ashburn 993
Jacksonville 903
Woodbridge 890
Houston 843
Wilmington 754
Seattle 733
Cambridge 635
Ann Arbor 548
Princeton 337
Nanjing 310
Beijing 272
Siena 195
Helsinki 145
Boardman 129
New York 121
Nanchang 119
San Diego 93
Málaga 90
San Mateo 86
Tianjin 72
Moscow 70
Singapore 68
Shenyang 66
Hebei 60
Shanghai 52
Izmir 49
Dong Ket 47
London 42
Lancaster 40
Venezia 40
Norwalk 39
Jinan 38
Changsha 37
Kunming 37
Dearborn 35
Brussels 34
Jiaxing 31
Düsseldorf 30
Washington 29
Rome 28
San Francisco 28
Toronto 27
Munich 25
Waanrode 22
Zhengzhou 19
Hangzhou 18
Ningbo 18
Florence 17
Dallas 16
Guangzhou 14
Milan 14
Taizhou 14
Brno 13
Hefei 13
Redwood City 13
Los Angeles 12
Renton 12
Chicago 11
Fremont 10
Kilburn 10
Atlanta 9
Bonndorf 9
Hounslow 9
Haikou 8
Tappahannock 8
Lanzhou 7
Philadelphia 7
Sofia 7
Sydney 7
Arezzo 6
Changchun 6
Falls Church 6
Saint Petersburg 6
Vienna 6
Auburn Hills 5
Edinburgh 5
Lima 5
Melbourne 5
Montespertoli 5
Padova 5
Phoenix 5
Shaoxing 5
Tokyo 5
Verona 5
Wuhan 5
Acton 4
Amsterdam 4
Berlin 4
Budapest 4
Falkenstein 4
Groningen 4
Leawood 4
Madrid 4
Naples 4
Olomouc 4
Totale 19.880
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Nome #
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy 346
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients 281
A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL 272
Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum 206
Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia 203
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: Update on clinical, diagnostic, and management aspects 202
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] 201
Cerebellar ataxia associated with anti-glutamic acid decarboxylase antibodies: a case report 199
Novel CSN syndrome and ectodermal dysplasia 198
Electron-dense lamellated inclusions in 2 siblings with Kufor-Rakeb syndrome. 194
Type I sialidosis: a clinical, biochemical and neuroradiological study 191
A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemia. 189
Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28 189
Growth of congenital malignant teratoid medulloepithelioma of the ciliary body: a case study 188
Typical pathological changes of CADASIL in the optic nerve 187
A case of dystonia with onset during pregnancy 186
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1 186
Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)? 184
Typical pathological changes of CADASIL in the optic nerve 183
Homozygosity and severity of phenotypic presentation in a CADASIL family 183
Polyneuropathy with demyelinating changes in Churg–Strauss syndrome: an unusual association 182
Juvenile Leigh syndrome with protracted course presenting as chronic sensory motor neuropathy, ataxia, deafness and retinitis pigmentosa: a clinicopathological report 182
A second MNGIE patient without typical mitochondrial skeletal muscle involvement 181
Peripheral neuropathy in late-onset Krabbe disease: report of three cases. 180
null 178
Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy 178
Antibodies to dorsal root ganglia and olfactory cells in a patient with chronic sensory neuropathy and anosmia 178
A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss 177
Neuropathological findings associated with retained lead shot pellets in a man surviving two months after a suicide attempt 177
Vitamin E deficiency secondary to chronic intestinal malabsorption and effect of vitamin supplement: a case report 176
Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis 175
A new missense mutation in caveolin-3 gene causes rippling muscle disease. 175
Imaging of the thymus in myotonic dystrophy type 1 173
Diagnostic value of ultrastructural skin biopsy studies in CADASIL 171
Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation 170
Congenital myopathies: Clinical phenotypes and new diagnostic tools 169
SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing. 169
Inclusion Body Myopathy-Like Changes in a Family with Cerebellar Atrophy, Mental Retardation and Abnormal Pupils. 166
First report of an Iraqi Kurdish CADASIL patient. 166
Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation. 166
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 165
Bilateral recurrent focal myositis of gastrocnemius muscles after BCG vaccination 164
Phacoemulsificator and sterile drapes contamination during cataract surgery: a microbiological study 163
Adrenomyeloneurodystrophy with late cerebral involvement and evidence of a multiple autoimmune disorder 161
Optic atrophy in Marinesco-Sjögren syndrome: an additional ocular feature. Report of three cases in two families 159
Asymptomatic cores and paracrystalline mitochondrial inclusions in CADASIL. 157
Acute inflammatory neuropathy in Charcot-Marie-Tooth disease 157
The first Italian patient with oculopharyngodistal myopathy: Case report and considerations on differential diagnosis. 155
Motor-sensory neuropathy with minifascicle formation in a woman with normal karyotype. 155
null 155
Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI 155
Transient periodic lateralised epileptiform discharges (PLEDs) following internal carotid artery stenting 154
Ataxia, mental deterioration, epilepsy in a family with dominant enamel hypoplasia: a variant of Kohlschütter-Tönz syndrome? 153
Cerebro-ocular dysplasia and muscular dystrophy: report of two cases 152
Autonomic nervous system and smooth muscle cell invomvement in systemic sclerosis: ultrastructural study of three cases 152
Early visual function impairment in CADASIL 151
Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions 151
Neuronal intranuclear inclusion disease: polymerase chain reaction and ultrastructural study of rectal biopsy specimen in a new case 151
Neuronal intranuclear inclusion disease: neuropathologic study of a case 150
Huntington's disease gene expansion associates with early onset nonprogressive chorea 149
Ectodermal dysplasia syndrome with eyebrow alopecia, ptosis, strabismus, nystagmus, joint laxity, cerebellar ataxia, and osteopenia 148
Clinical Course of Two Italian Siblings with Ataxia-Telangiectasia-Like Disorder. 148
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type 148
Hereditary spastic paraplegia type 5: a potentially treatable disorder of cholesterol metabolism 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 145
Capsule contraction syndrome with a microincision foldable hydrophilic acrylic intraocular lens: two case reports and review of the literature 144
A rare association of myasthenia gravis and mitochondrial myopathy: a clinical, biochemical and morphologic study of one case 144
CADASIL and cerebrovascular diseases 143
A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency. 143
Transient "sicca syndrome" during phenobarbital treatment. 143
The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome 143
A syndrome of bilateral hemorrhage of the thalamus and myocarditis with fatal course 143
null 143
Cortical periventricular heterotopia with ectodermal dysplasia 143
Amiodarone induced lipidosis similar to Niemann-Pick C disease. Biochemical and morphological study 142
A novel point mutation in the mitochondrial tRNA((Trp)) gene produces late-onset encephalomyopathy, plus additional features 141
Retinocytoma associated with calcified vitreous deposits 140
Chronic diarrhea associated with the A3243G mtDNA mutation 139
Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA 138
Hypertelorism, ptosis and myopia associated with drug-resistanr epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia. 137
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 136
Association of myopathy with multiple exostoses and mental retardation: a case report 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 135
Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation 134
Ultrastructural sperm abnormalities and cerebellar atrophy: does a correlation exist? Report of two cases without endocrine hypogonadism 134
The spectrum of NOTCH3 mutation and phonotype variability in fourteen Italian families with CADASIL. 133
Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities 133
A randomized prospective study comparing trabeculectomy with and without the use of a new removable suture 131
A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family 131
Palpebral ptosis and muscle fatiguability associated with perineurial cell ensheathment of muscle fibers: a new disease of the neuromuscular junction? 130
The T9176G mt DNA mutation severely affects AATP production and results in Leigh syndrome 129
Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage 129
Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy 129
Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene 129
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation 129
Dementia, myoclonus, peripheral neuropathy, and lipid-like material in skin biopsy during psychotropic drug treatment 128
The clinical aspects of adult hexosaminidase deficiencies 128
Rapidly progressive neurodegeneration in a case with the 7472insC mutation and the A7472C polymorphism in the mtDNA tRNA ser(UCN) gene. 127
Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population 127
Totale 16.263
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Categoria #
all - tutte 71.582
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 71.582
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20204.436 0 177 363 861 369 358 426 611 438 424 108 301
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
2024/2025305 75 230 0 0 0 0 0 0 0 0 0 0
Totale 25.480