IRIS
MALANDRINI, ALESSANDRO
 Distribuzione geografica
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Continente #
NA - Nord America 19.867
EU - Europa 12.418
AS - Asia 6.691
SA - Sud America 1.096
AF - Africa 352
OC - Oceania 28
Continente sconosciuto - Info sul continente non disponibili 24
AN - Antartide 1
Totale 40.477
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Nazione #
US - Stati Uniti d'America 19.654
GB - Regno Unito 3.226
CN - Cina 2.566
RU - Federazione Russa 2.416
SG - Singapore 2.066
IE - Irlanda 1.647
UA - Ucraina 1.069
BR - Brasile 897
SE - Svezia 887
IT - Italia 847
FR - Francia 732
DE - Germania 690
VN - Vietnam 557
HK - Hong Kong 533
FI - Finlandia 426
KR - Corea 329
ZA - Sudafrica 173
IN - India 157
ES - Italia 136
CA - Canada 123
TR - Turchia 81
AR - Argentina 72
NL - Olanda 70
BD - Bangladesh 69
IQ - Iraq 67
BE - Belgio 63
PL - Polonia 63
NG - Nigeria 57
MX - Messico 51
JP - Giappone 43
PK - Pakistan 37
CO - Colombia 24
CZ - Repubblica Ceca 24
EC - Ecuador 23
ID - Indonesia 23
AU - Australia 22
EU - Europa 22
SA - Arabia Saudita 22
VE - Venezuela 22
AT - Austria 21
MA - Marocco 21
CL - Cile 19
CI - Costa d'Avorio 17
KE - Kenya 17
EG - Egitto 16
UZ - Uzbekistan 16
DZ - Algeria 15
KZ - Kazakistan 14
RO - Romania 13
AZ - Azerbaigian 12
LT - Lituania 12
UY - Uruguay 12
CH - Svizzera 11
IL - Israele 11
IR - Iran 11
PE - Perù 11
PY - Paraguay 11
BG - Bulgaria 10
SN - Senegal 9
GR - Grecia 8
JO - Giordania 8
NP - Nepal 8
PA - Panama 8
PH - Filippine 8
MY - Malesia 7
PT - Portogallo 7
TW - Taiwan 7
AE - Emirati Arabi Uniti 6
DO - Repubblica Dominicana 6
TN - Tunisia 6
TT - Trinidad e Tobago 6
DK - Danimarca 5
ET - Etiopia 5
GT - Guatemala 5
HU - Ungheria 5
JM - Giamaica 5
LB - Libano 5
LV - Lettonia 5
NZ - Nuova Zelanda 5
BO - Bolivia 4
LA - Repubblica Popolare Democratica del Laos 4
AL - Albania 3
GA - Gabon 3
GE - Georgia 3
HR - Croazia 3
MD - Moldavia 3
MK - Macedonia 3
MU - Mauritius 3
OM - Oman 3
PS - Palestinian Territory 3
SK - Slovacchia (Repubblica Slovacca) 3
SY - Repubblica araba siriana 3
BA - Bosnia-Erzegovina 2
BY - Bielorussia 2
GD - Grenada 2
IM - Isola di Man 2
KG - Kirghizistan 2
LY - Libia 2
MM - Myanmar 2
RS - Serbia 2
Totale 40.447
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Città #
Southend 2.883
Dallas 2.618
Menlo Park 2.550
Fairfield 1.918
Dublin 1.642
Ashburn 1.266
Singapore 1.111
Chandler 1.050
Jacksonville 900
Woodbridge 886
Houston 845
Wilmington 751
Seattle 737
Moscow 676
Santa Clara 637
Cambridge 632
Beijing 585
Ann Arbor 542
Hong Kong 511
Hefei 383
San Jose 374
Princeton 335
Seoul 329
Nanjing 308
The Dalles 287
Siena 201
Helsinki 200
Los Angeles 193
New York 193
Ho Chi Minh City 166
Lauterbourg 161
Johannesburg 155
Boardman 128
Hanoi 127
Nanchang 119
Council Bluffs 110
Munich 104
San Diego 95
Málaga 90
Buffalo 88
San Mateo 86
São Paulo 81
Tianjin 75
Shenyang 70
Shanghai 67
London 66
Hebei 59
Rome 55
Abuja 51
Columbus 50
Izmir 49
Changsha 48
Dong Ket 47
Orem 47
Turku 46
San Francisco 45
Toronto 43
Warsaw 42
Brussels 41
Lancaster 41
Chennai 40
Jinan 40
Redondo Beach 40
Venezia 40
Florence 39
Milan 39
Norwalk 39
Tokyo 38
Frankfurt am Main 37
Kunming 37
Dearborn 35
Haiphong 33
Rio de Janeiro 33
Atlanta 32
Montreal 32
Düsseldorf 31
Jiaxing 31
Washington 30
Chicago 29
Bengaluru 26
Phoenix 26
Belo Horizonte 25
Baghdad 24
Guangzhou 24
Zhengzhou 23
Brooklyn 22
Waanrode 22
Hangzhou 20
Mexico City 20
Stockholm 20
Denver 19
Dhaka 18
Manchester 18
Nuremberg 18
Abidjan 17
Amsterdam 17
Da Nang 17
Ningbo 17
Boston 15
Brasília 15
Totale 29.093
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Nome #
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy 468
A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL 437
A new missense mutation in caveolin-3 gene causes rippling muscle disease. 394
A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemia. 391
A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss 379
A rare association of myasthenia gravis and mitochondrial myopathy: a clinical, biochemical and morphologic study of one case 366
A case of dystonia with onset during pregnancy 357
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients 339
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: Update on clinical, diagnostic, and management aspects 325
A second MNGIE patient without typical mitochondrial skeletal muscle involvement 324
Antibodies to dorsal root ganglia and olfactory cells in a patient with chronic sensory neuropathy and anosmia 312
Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia 307
Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum 305
Cerebellar ataxia associated with anti-glutamic acid decarboxylase antibodies: a case report 303
A novel point mutation in the mitochondrial tRNA((Trp)) gene produces late-onset encephalomyopathy, plus additional features 294
Asymptomatic cores and paracrystalline mitochondrial inclusions in CADASIL. 293
Growth of congenital malignant teratoid medulloepithelioma of the ciliary body: a case study 292
A case report of transient posterior internuclear ophthalmoplegia (PINO) associated with encephalitis of ponto-mesencephalic junction 291
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] 290
Electron-dense lamellated inclusions in 2 siblings with Kufor-Rakeb syndrome. 286
Novel CSN syndrome and ectodermal dysplasia 282
A randomized prospective study comparing trabeculectomy with and without the use of a new removable suture 279
Diagnostic value of ultrastructural skin biopsy studies in CADASIL 279
Typical pathological changes of CADASIL in the optic nerve 276
Capsule contraction syndrome with a microincision foldable hydrophilic acrylic intraocular lens: two case reports and review of the literature 275
Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28 273
Clinical Course of Two Italian Siblings with Ataxia-Telangiectasia-Like Disorder. 273
Ectodermal dysplasia syndrome with eyebrow alopecia, ptosis, strabismus, nystagmus, joint laxity, cerebellar ataxia, and osteopenia 272
Congenital myopathies: Clinical phenotypes and new diagnostic tools 272
Homozygosity and severity of phenotypic presentation in a CADASIL family 269
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1 267
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 267
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 266
Neuropathological findings associated with retained lead shot pellets in a man surviving two months after a suicide attempt 265
Bilateral recurrent focal myositis of gastrocnemius muscles after BCG vaccination 264
Inclusion Body Myopathy-Like Changes in a Family with Cerebellar Atrophy, Mental Retardation and Abnormal Pupils. 263
Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation. 262
Hypertelorism, ptosis and myopia associated with drug-resistanr epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia. 259
A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis 254
Cortical periventricular heterotopia with ectodermal dysplasia 254
Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis 252
Phacoemulsificator and sterile drapes contamination during cataract surgery: a microbiological study 252
Ataxia, mental deterioration, epilepsy in a family with dominant enamel hypoplasia: a variant of Kohlschütter-Tönz syndrome? 252
Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)? 252
Peripheral neuropathy in late-onset Krabbe disease: report of three cases. 251
Cerebro-ocular dysplasia and muscular dystrophy: report of two cases 250
Amiodarone induced lipidosis similar to Niemann-Pick C disease. Biochemical and morphological study 250
A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency. 249
Chronic diarrhea associated with the A3243G mtDNA mutation 248
A syndrome of bilateral hemorrhage of the thalamus and myocarditis with fatal course 247
Imaging of the thymus in myotonic dystrophy type 1 244
Acute shoulder–girdle neuralgic amyotrophy (parsonage-turner syndrome) with saphenous nerve involvement. 243
Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy 243
CADASIL and cerebrovascular diseases 242
The first Italian patient with oculopharyngodistal myopathy: Case report and considerations on differential diagnosis. 242
Autonomic nervous system and smooth muscle cell invomvement in systemic sclerosis: ultrastructural study of three cases 242
Neuronal intranuclear inclusion disease: neuropathologic study of a case 241
Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI 241
Type I sialidosis: a clinical, biochemical and neuroradiological study 240
SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing. 239
Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation 235
A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome C oxidase deficiency 235
A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family 234
Polyneuropathy with demyelinating changes in Churg–Strauss syndrome: an unusual association 234
Motor-sensory neuropathy with minifascicle formation in a woman with normal karyotype. 233
Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities 232
Ultrastructural sperm abnormalities and cerebellar atrophy: does a correlation exist? Report of two cases without endocrine hypogonadism 229
Huntington's disease gene expansion associates with early onset nonprogressive chorea 229
Optic atrophy in Marinesco-Sjögren syndrome: an additional ocular feature. Report of three cases in two families 228
Transient periodic lateralised epileptiform discharges (PLEDs) following internal carotid artery stenting 228
Adrenomyeloneurodystrophy with late cerebral involvement and evidence of a multiple autoimmune disorder 228
A syndrome of autosomal recessive pontocerebellar hypoplasia with white matter abnormalities and protracted course in two brothers 227
Air-guided manual deep anterior lamellar keratoplasty: long-term results and confocal microscopic findings 226
Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA 225
Juvenile Leigh syndrome with protracted course presenting as chronic sensory motor neuropathy, ataxia, deafness and retinitis pigmentosa: a clinicopathological report 224
Dementia, myoclonus, peripheral neuropathy, and lipid-like material in skin biopsy during psychotropic drug treatment 223
Hereditary spastic paraplegia type 5: a potentially treatable disorder of cholesterol metabolism 222
Evaluation of brain apoptosis in a CADASIL postmortem case 219
High-Dose Methylprednisolone For Bickerstaff’s Brainstem Encephalitis. 219
The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome 218
Choreo-acanthocytosis like phenotype without acanthocytes: clinicopathological case report. A contribution to the knowledge of the functional pathology of the caudate nucleus 216
Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions 216
In vivo confocal microscopy in recurrent granular dystrophy in corneal graft after penetrating keratoplasty 216
Vitamin E deficiency secondary to chronic intestinal malabsorption and effect of vitamin supplement: a case report 216
Treatment of macular edema because of occlusive vasculitis with bevacizumab (avastin): efficacy of three consecutive monthly injections 215
Hepatitis C virus infection and myositis: a polymerase chain reaction study 215
First report of an Iraqi Kurdish CADASIL patient. 214
Acute inflammatory neuropathy in Charcot-Marie-Tooth disease 212
Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene 212
Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy 211
Gliomatosis cerebri with oligodendrocytic components: description of 1 case 207
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA) 207
Neuronal intranuclear inclusion disease: polymerase chain reaction and ultrastructural study of rectal biopsy specimen in a new case 206
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 202
Discordant manifestations in Italian brothers with GNE myopathy 201
Association of myopathy with multiple exostoses and mental retardation: a case report 199
Transient "sicca syndrome" during phenobarbital treatment. 198
Leukoencephalopathy as a rare complication of hepatitis C infection. 198
Early visual function impairment in CADASIL 197
The spectrum of NOTCH3 mutation and phonotype variability in fourteen Italian families with CADASIL. 196
Totale 25.746
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Categoria #
all - tutte 113.190
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 113.190
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021812 0 0 0 0 0 0 0 0 0 234 355 223
2021/20222.402 169 330 143 183 120 49 136 91 106 259 268 548
2022/20233.541 228 264 504 495 349 698 46 288 360 124 114 71
2023/20242.459 98 53 241 136 71 708 842 70 33 40 16 151
2024/20254.732 75 274 410 231 618 218 109 248 451 217 527 1.354
2025/202611.121 900 1.997 1.851 1.312 2.212 395 1.174 355 396 529 0 0
Totale 40.723