MALANDRINI, ALESSANDRO
 Distribuzione geografica
Continente #
NA - Nord America 13.759
EU - Europa 8.643
AS - Asia 1.364
Continente sconosciuto - Info sul continente non disponibili 24
SA - Sud America 21
OC - Oceania 17
AF - Africa 6
Totale 23.834
Nazione #
US - Stati Uniti d'America 13.714
GB - Regno Unito 3.018
IE - Irlanda 1.587
CN - Cina 1.193
UA - Ucraina 1.019
SE - Svezia 837
IT - Italia 566
DE - Germania 490
FR - Francia 477
FI - Finlandia 292
BE - Belgio 139
ES - Italia 97
VN - Vietnam 59
TR - Turchia 52
CA - Canada 41
NL - Olanda 39
EU - Europa 22
RU - Federazione Russa 15
AU - Australia 13
CZ - Repubblica Ceca 13
IN - India 12
PL - Polonia 11
IR - Iran 10
JP - Giappone 8
BG - Bulgaria 7
BR - Brasile 6
RO - Romania 6
CL - Cile 5
GR - Grecia 5
IL - Israele 5
CH - Svizzera 4
HK - Hong Kong 4
HU - Ungheria 4
NZ - Nuova Zelanda 4
AR - Argentina 3
AT - Austria 3
DK - Danimarca 3
EC - Ecuador 3
ID - Indonesia 3
LA - Repubblica Popolare Democratica del Laos 3
PE - Perù 3
TW - Taiwan 3
EG - Egitto 2
HR - Croazia 2
MA - Marocco 2
MK - Macedonia 2
MY - Malesia 2
PA - Panama 2
A1 - Anonimo 1
A2 - ???statistics.table.value.countryCode.A2??? 1
AL - Albania 1
BD - Bangladesh 1
CO - Colombia 1
DO - Repubblica Dominicana 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
MD - Moldavia 1
MM - Myanmar 1
PT - Portogallo 1
RS - Serbia 1
SA - Arabia Saudita 1
SD - Sudan 1
SG - Singapore 1
TT - Trinidad e Tobago 1
UZ - Uzbekistan 1
ZA - Sudafrica 1
Totale 23.834
Città #
Southend 2.790
Menlo Park 2.629
Fairfield 1.846
Dublin 1.582
Chandler 1.003
Ashburn 931
Jacksonville 865
Woodbridge 857
Houston 800
Wilmington 723
Seattle 696
Cambridge 607
Ann Arbor 533
Princeton 323
Nanjing 293
Beijing 261
Siena 193
Helsinki 124
Boardman 122
Brussels 117
Nanchang 112
New York 103
San Diego 86
Málaga 85
San Mateo 79
Tianjin 70
Shenyang 64
Hebei 58
Shanghai 54
Dong Ket 47
London 46
Izmir 45
Venezia 40
Lancaster 39
Norwalk 38
Dearborn 35
Jinan 35
Kunming 35
Changsha 34
Jiaxing 31
Düsseldorf 30
Toronto 27
San Francisco 26
Washington 26
Rome 23
Waanrode 22
Philadelphia 19
Zhengzhou 19
Hangzhou 17
Ningbo 17
Florence 15
Milan 14
Taizhou 14
Guangzhou 13
Redwood City 13
Hefei 12
Renton 12
Hounslow 11
Brno 10
Fremont 10
Kilburn 10
Bonndorf 9
Chicago 9
Atlanta 7
Haikou 7
Sofia 7
Arezzo 6
Changchun 6
Falls Church 6
Lanzhou 6
Saint Petersburg 6
Tappahannock 6
Acton 5
Dallas 5
Edinburgh 5
Los Angeles 5
Melbourne 5
Montespertoli 5
Padova 5
Phoenix 5
Prescot 5
Shaoxing 5
Tokyo 5
Verona 5
Wuhan 5
Amsterdam 4
Auburn Hills 4
Berlin 4
Budapest 4
Chiswick 4
Falkenstein 4
Leawood 4
Madrid 4
Providence 4
Sydney 4
Warsaw 4
Zanjan 4
Athens 3
Auckland 3
Campi Bisenzio 3
Totale 18.988
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 283
A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL 270
Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum 208
Novel CSN syndrome and ectodermal dysplasia 207
Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia 201
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: Update on clinical, diagnostic, and management aspects 198
Cerebellar ataxia associated with anti-glutamic acid decarboxylase antibodies: a case report 198
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] 193
Electron-dense lamellated inclusions in 2 siblings with Kufor-Rakeb syndrome. 191
Type I sialidosis: a clinical, biochemical and neuroradiological study 189
Typical pathological changes of CADASIL in the optic nerve 189
Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28 187
Growth of congenital malignant teratoid medulloepithelioma of the ciliary body: a case study 186
A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemia. 185
Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)? 185
A case of dystonia with onset during pregnancy 184
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1 184
Juvenile Leigh syndrome with protracted course presenting as chronic sensory motor neuropathy, ataxia, deafness and retinitis pigmentosa: a clinicopathological report 182
Typical pathological changes of CADASIL in the optic nerve 181
Homozygosity and severity of phenotypic presentation in a CADASIL family 181
Polyneuropathy with demyelinating changes in Churg–Strauss syndrome: an unusual association 181
Peripheral neuropathy in late-onset Krabbe disease: report of three cases. 180
Neuropathological findings associated with retained lead shot pellets in a man surviving two months after a suicide attempt 179
Antibodies to dorsal root ganglia and olfactory cells in a patient with chronic sensory neuropathy and anosmia 179
null 178
A second MNGIE patient without typical mitochondrial skeletal muscle involvement 178
A new missense mutation in caveolin-3 gene causes rippling muscle disease. 175
Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy 175
Vitamin E deficiency secondary to chronic intestinal malabsorption and effect of vitamin supplement: a case report 175
A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss 173
Diagnostic value of ultrastructural skin biopsy studies in CADASIL 173
Imaging of the thymus in myotonic dystrophy type 1 172
Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation 169
Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis 168
Congenital myopathies: Clinical phenotypes and new diagnostic tools 168
Inclusion Body Myopathy-Like Changes in a Family with Cerebellar Atrophy, Mental Retardation and Abnormal Pupils. 166
SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing. 166
First report of an Iraqi Kurdish CADASIL patient. 164
Bilateral recurrent focal myositis of gastrocnemius muscles after BCG vaccination 163
Adrenomyeloneurodystrophy with late cerebral involvement and evidence of a multiple autoimmune disorder 161
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 161
Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation. 161
Optic atrophy in Marinesco-Sjögren syndrome: an additional ocular feature. Report of three cases in two families 157
null 155
Motor-sensory neuropathy with minifascicle formation in a woman with normal karyotype. 154
Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI 154
Asymptomatic cores and paracrystalline mitochondrial inclusions in CADASIL. 153
Acute inflammatory neuropathy in Charcot-Marie-Tooth disease 153
The first Italian patient with oculopharyngodistal myopathy: Case report and considerations on differential diagnosis. 152
Transient periodic lateralised epileptiform discharges (PLEDs) following internal carotid artery stenting 151
Autonomic nervous system and smooth muscle cell invomvement in systemic sclerosis: ultrastructural study of three cases 151
Cerebro-ocular dysplasia and muscular dystrophy: report of two cases 150
Ataxia, mental deterioration, epilepsy in a family with dominant enamel hypoplasia: a variant of Kohlschütter-Tönz syndrome? 150
Neuronal intranuclear inclusion disease: polymerase chain reaction and ultrastructural study of rectal biopsy specimen in a new case 150
Early visual function impairment in CADASIL 149
Ectodermal dysplasia syndrome with eyebrow alopecia, ptosis, strabismus, nystagmus, joint laxity, cerebellar ataxia, and osteopenia 149
Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions 148
Neuronal intranuclear inclusion disease: neuropathologic study of a case 147
Huntington's disease gene expansion associates with early onset nonprogressive chorea 147
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type 147
Clinical Course of Two Italian Siblings with Ataxia-Telangiectasia-Like Disorder. 146
A syndrome of bilateral hemorrhage of the thalamus and myocarditis with fatal course 146
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 146
Cortical periventricular heterotopia with ectodermal dysplasia 145
Hereditary spastic paraplegia type 5: a potentially treatable disorder of cholesterol metabolism. 144
Unusual clinical features and early brain MRI lesions in a family with cerebral autosomal dominant arteriopathy 143
null 143
Hypertelorism, ptosis and myopia associated with drug-resistanr epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia. 142
CADASIL and cerebrovascular diseases 141
A novel point mutation in the mitochondrial tRNA((Trp)) gene produces late-onset encephalomyopathy, plus additional features 141
Transient "sicca syndrome" during phenobarbital treatment. 140
The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome 140
A rare association of myasthenia gravis and mitochondrial myopathy: a clinical, biochemical and morphologic study of one case 140
Amiodarone induced lipidosis similar to Niemann-Pick C disease. Biochemical and morphological study 139
Chronic diarrhea associated with the A3243G mtDNA mutation 138
Association of myopathy with multiple exostoses and mental retardation: a case report 135
A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency. 135
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 134
Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA 134
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity 133
Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation 131
Ultrastructural sperm abnormalities and cerebellar atrophy: does a correlation exist? Report of two cases without endocrine hypogonadism 131
Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities 131
The spectrum of NOTCH3 mutation and phonotype variability in fourteen Italian families with CADASIL. 130
A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family 130
Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage 128
The T9176G mt DNA mutation severely affects AATP production and results in Leigh syndrome 127
Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy 127
The clinical aspects of adult hexosaminidase deficiencies 127
Palpebral ptosis and muscle fatiguability associated with perineurial cell ensheathment of muscle fibers: a new disease of the neuromuscular junction? 127
Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene 127
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation 127
Rapidly progressive neurodegeneration in a case with the 7472insC mutation and the A7472C polymorphism in the mtDNA tRNA ser(UCN) gene. 126
Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population 126
Dementia, myoclonus, peripheral neuropathy, and lipid-like material in skin biopsy during psychotropic drug treatment 125
CAG repeat expansion in an italian family with spinocerebellar ataxia type 2 (SCA2): a clinical and genetic study 124
null 124
Discordant manifestations in Italian brothers with GNE myopathy 124
A syndrome of autosomal recessive pontocerebellar hypoplasia with white matter abnormalities and protracted course in two brothers 123
Totale 16.030
Categoria #
all - tutte 61.715
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 61.715


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/20191.866 0 0 0 0 0 0 0 0 121 324 742 679
2019/20204.867 635 170 347 821 355 343 401 581 418 404 103 289
2020/20213.498 160 374 126 318 172 429 152 558 418 230 345 216
2021/20222.326 167 319 136 173 116 46 133 88 102 253 262 531
2022/20233.451 219 254 484 477 336 672 59 281 346 129 120 74
2023/20242.232 100 69 237 141 95 671 823 70 26 0 0 0
Totale 24.060