IRIS
MALANDRINI, ALESSANDRO
 Distribuzione geografica
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Continente #
NA - Nord America 13080
EU - Europa 6900
AS - Asia 1287
Continente sconosciuto - Info sul continente non disponibili 24
SA - Sud America 17
OC - Oceania 11
AF - Africa 5
Totale 21324
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Nazione #
US - Stati Uniti d'America 13039
GB - Regno Unito 2953
CN - Cina 1139
UA - Ucraina 1019
SE - Svezia 841
IT - Italia 506
FR - Francia 478
DE - Germania 411
IE - Irlanda 347
FI - Finlandia 173
BE - Belgio 74
TR - Turchia 52
VN - Vietnam 47
CA - Canada 38
NL - Olanda 38
EU - Europa 22
RU - Federazione Russa 14
AU - Australia 11
IN - India 11
IR - Iran 10
ES - Italia 7
JP - Giappone 7
BR - Brasile 6
RO - Romania 6
BG - Bulgaria 5
IL - Israele 5
PL - Polonia 5
CL - Cile 4
AR - Argentina 3
AT - Austria 3
DK - Danimarca 3
GR - Grecia 3
HU - Ungheria 3
ID - Indonesia 3
CH - Svizzera 2
CZ - Repubblica Ceca 2
EC - Ecuador 2
EG - Egitto 2
HK - Hong Kong 2
HR - Croazia 2
LA - Repubblica Popolare Democratica del Laos 2
PA - Panama 2
A1 - ???statistics.table.value.countryCode.A1??? 1
A2 - ???statistics.table.value.countryCode.A2??? 1
AL - Albania 1
BD - Bangladesh 1
CO - Colombia 1
IM - Isola di Man 1
IQ - Iraq 1
KW - Kuwait 1
LK - Sri Lanka 1
MA - Marocco 1
MD - Moldavia 1
MM - Myanmar 1
MY - Malesia 1
PE - Perù 1
PT - Portogallo 1
RS - Serbia 1
SA - Arabia Saudita 1
SD - Sudan 1
SG - Singapore 1
TT - Trinidad e Tobago 1
TW - Taiwan 1
ZA - Sudafrica 1
Totale 21324
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Città #
Southend 2800
Menlo Park 2654
Fairfield 1846
Chandler 1003
Jacksonville 866
Woodbridge 858
Houston 800
Ashburn 737
Wilmington 724
Seattle 694
Cambridge 607
Ann Arbor 518
Dublin 347
Princeton 324
Nanjing 291
Beijing 263
Siena 193
Boardman 119
Nanchang 111
San Diego 86
San Mateo 79
Tianjin 71
Shenyang 64
Hebei 59
Brussels 52
Dong Ket 47
Izmir 45
Venezia 40
Norwalk 38
Dearborn 37
Kunming 37
Lancaster 36
Jinan 33
Changsha 32
Düsseldorf 30
Jiaxing 30
London 30
Toronto 27
San Francisco 26
Waanrode 22
Ningbo 17
Hangzhou 16
Zhengzhou 16
Rome 15
Taizhou 14
Guangzhou 13
Hefei 13
Redwood City 13
Renton 12
Shanghai 12
Philadelphia 11
Fremont 10
Helsinki 7
Milan 7
Arezzo 6
Changchun 6
Chicago 6
Falls Church 6
Florence 6
Haikou 6
Lanzhou 6
Saint Petersburg 6
Atlanta 5
Los Angeles 5
Montespertoli 5
Phoenix 5
Shaoxing 5
Sofia 5
Wuhan 5
Amsterdam 4
Auburn Hills 4
Berlin 4
Leawood 4
Melbourne 4
Padova 4
Providence 4
Tokyo 4
Zanjan 4
Budapest 3
Canberra 3
Detroit 3
Fuzhou 3
Groningen 3
Itri 3
Madrid 3
Mississauga 3
Monmouth Junction 3
New York 3
Sydney 3
São Paulo 3
Teramo 3
Vienna 3
Winnipeg 3
Aix-en-provence 2
Antrodoco 2
Bergamo 2
Buenos Aires 2
Cairo 2
Catania 2
Chions 2
Totale 17030
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Nome #
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy 324
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients 261
A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL. 240
Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum 188
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: Update on clinical, diagnostic, and management aspects 184
Cerebellar ataxia associated with anti-glutamic acid decarboxylase antibodies: a case report 184
Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia 180
null 178
Type I sialidosis: a clinical, biochemical and neuroradiological study 178
Novel CSN syndrome and ectodermal dysplasia 173
Typical pathological changes of CADASIL in the optic nerve. 172
Electron-dense lamellated inclusions in 2 siblings with Kufor-Rakeb syndrome. 172
Typical pathological changes of CADASIL in the optic nerve. 172
Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)? 170
Homozygosity and severity of phenotypic presentation in a CADASIL family 169
Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28 168
A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemia. 166
Vitamin E deficiency secondary to chronic intestinal malabsorption and effect of vitamin supplement: a case report. 166
Polyneuropathy with demyelinating changes in Churg–Strauss syndrome: an unusual association 164
Juvenile Leigh syndrome with protracted course presenting as chronic sensory motor neuropathy, ataxia, deafness and retinitis pigmentosa: a clinicopathological report. 164
Peripheral neuropathy in late-onset Krabbe disease: report of three cases. 164
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1 162
Growth of congenital malignant teratoid medulloepithelioma of the ciliary body: a case study 162
Panatrofia di Gowers associata a sindrome da anticorpi antifosfolipidi primitiva: descrizione di un caso singolare 160
A case of dystonia with onset during pregnancy. 156
Neuropathological findings associated with retained lead shot pellets in a man surviving two months after a suicide attempt 156
First report of an Iraqi Kurdish CADASIL patient. 156
A second MNGIE patient without typical mitochondrial skeletal muscle involvement. 155
null 155
Imaging of the thymus in myotonic dystrophy type 1 155
A new missense mutation in caveolin-3 gene causes rippling muscle disease. 154
Diagnostic value of ultrastructural skin biopsy studies in CADASIL. 153
Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation. 152
Antibodies to dorsal root ganglia and olfactory cells in a patient with chronic sensory neuropathy and anosmia. 152
Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis. 151
SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing. 151
Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy. 150
Inclusion Body Myopathy-Like Changes in a Family with Cerebellar Atrophy, Mental Retardation and Abnormal Pupils. 149
A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss. 147
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 146
Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation. 146
Adrenomyeloneurodystrophy with late cerebral involvement and evidence of a multiple autoimmune disorder 145
Bilateral recurrent focal myositis of gastrocnemius muscles after BCG vaccination 144
Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI 144
Motor-sensory neuropathy with minifascicle formation in a woman with normal karyotype. 143
Congenital myopathies: Clinical phenotypes and new diagnostic tools 143
null 143
Early visual function impairment in CADASIL 142
Optic atrophy in Marinesco-Sjögren syndrome: an additional ocular feature. Report of three cases in two families 142
Acute inflammatory neuropathy in Charcot-Marie-Tooth disease. 141
Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions 141
Cerebro-ocular dysplasia and muscular dystrophy: report of two cases. 138
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type 138
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 138
Ataxia, mental deterioration, epilepsy in a family with dominant enamel hypoplasia: a variant of Kohlschütter-Tönz syndrome? 137
The first Italian patient with oculopharyngodistal myopathy: Case report and considerations on differential diagnosis. 136
Neuronal intranuclear inclusion disease: polymerase chain reaction and ultrastructural study of rectal biopsy specimen in a new case 136
Transient periodic lateralised epileptiform discharges (PLEDs) following internal carotid artery stenting 135
The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome. 135
Unusual clinical features and early brain MRI lesions in a family with cerebral autosomal dominant arteriopathy 135
Transient "sicca syndrome" during phenobarbital treatment. 133
Autonomic nervous system and smooth muscle cell invomvement in systemic sclerosis: ultrastructural study of three cases 131
Asymptomatic cores and paracrystalline mitochondrial inclusions in CADASIL. 129
Neuronal intranuclear inclusion disease: neuropathologic study of a case. 128
Hereditary spastic paraplegia type 5: a potentially treatable disorder of cholesterol metabolism. 128
Huntington's disease gene expansion associates with early onset nonprogressive chorea. 128
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity 128
A novel point mutation in the mitochondrial tRNA((Trp)) gene produces late-onset encephalomyopathy, plus additional features. 127
Clinical Course of Two Italian Siblings with Ataxia-Telangiectasia-Like Disorder. 125
null 124
Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA. 123
null 123
The spectrum of NOTCH3 mutation and phonotype variability in fourteen Italian families with CADASIL. 122
Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation 122
Ectodermal dysplasia syndrome with eyebrow alopecia, ptosis, strabismus, nystagmus, joint laxity, cerebellar ataxia, and osteopenia 122
Amiodarone induced lipidosis similar to Niemann-Pick C disease. Biochemical and morphological study. 122
Association of myopathy with multiple exostoses and mental retardation: a case report 121
CADASIL and cerebrovascular diseases 121
Chronic diarrhea associated with the A3243G mtDNA mutation. 121
Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage. 121
A syndrome of bilateral hemorrhage of the thalamus and myocarditis with fatal course. 121
Palpebral ptosis and muscle fatiguability associated with perineurial cell ensheathment of muscle fibers: a new disease of the neuromuscular junction? 120
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation. 120
Cortical periventricular heterotopia with ectodermal dysplasia 119
The T9176G mt DNA mutation severely affects AATP production and results in Leigh syndrome 118
The clinical aspects of adult hexosaminidase deficiencies. 118
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. 117
A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency. 117
Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism. 116
CAG repeat expansion in an italian family with spinocerebellar ataxia type 2 (SCA2): a clinical and genetic study. 116
Peripheral neuropathy in CADASIL. 115
Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities. 115
A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family 115
Rapidly progressive neurodegeneration in a case with the 7472insC mutation and the A7472C polymorphism in the mtDNA tRNA ser(UCN) gene. 115
Autoimmunitary changes in adrenoleukodystrophy and adrenomyeloneuropathy. 115
SPASTIC PARAPLEGIA WITH THINNING OF THE CORPUS CALLOSUM AND WHITE MATTER ABNORMALITIES: FURTHER MUTATIONS AND RELATIVE FREQUENCY IN ZFYVE26/SPG15 IN THE ITALIAN POPULATION. 115
Mental retardation with marfanoid syndrome: presentation of a family with different phenotypical expression. 114
Giant axonal neuropathy with subclinical involvement of the central nervous system: case report. 114
Miopatia nemalinica. Descrizione di un caso ad esordio adulto. 113
Discordant manifestations in Italian brothers with GNE myopathy 111
Totale 14484
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Categoria #
all - tutte 34159
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 34159
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2017/2018286 0000 00 00 813810661
2018/20195592 976121261 71432 2601191 121324743678
2019/20204873 635170344823 355346 401581 419407103289
2020/20213499 161373126318 173429 152558 418230345216
2021/20222327 167319136173 11746 13388 102253262531
2022/20233134 219257486476 338671 59282 346000
Totale 21547