IRIS Institutional Research Information System - OPENBS Open Archive UniBS

FILOSTO, Massimiliano
 Distribuzione geografica
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Continente #
NA - Nord America 6.833
EU - Europa 1.834
AS - Asia 1.747
SA - Sud America 7
AF - Africa 6
Continente sconosciuto - Info sul continente non disponibili 3
OC - Oceania 3
Totale 10.433
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Nazione #
US - Stati Uniti d'America 6.814
SG - Singapore 669
HK - Hong Kong 477
UA - Ucraina 329
CN - Cina 316
PL - Polonia 255
IT - Italia 232
TR - Turchia 223
IE - Irlanda 208
RU - Federazione Russa 205
DE - Germania 167
GB - Regno Unito 161
FI - Finlandia 158
SE - Svezia 44
FR - Francia 33
IN - India 30
CZ - Repubblica Ceca 20
CA - Canada 17
VN - Vietnam 13
ID - Indonesia 7
BE - Belgio 4
BR - Brasile 4
CH - Svizzera 4
MU - Mauritius 4
TW - Taiwan 4
AT - Austria 3
AU - Australia 3
EU - Europa 3
NL - Olanda 3
AR - Argentina 2
SA - Arabia Saudita 2
SK - Slovacchia (Repubblica Slovacca) 2
EG - Egitto 1
ES - Italia 1
GR - Grecia 1
HU - Ungheria 1
IL - Israele 1
IQ - Iraq 1
IR - Iran 1
IS - Islanda 1
JM - Giamaica 1
KR - Corea 1
KZ - Kazakistan 1
LA - Repubblica Popolare Democratica del Laos 1
LT - Lituania 1
MA - Marocco 1
MS - Montserrat 1
PE - Perù 1
RO - Romania 1
Totale 10.433
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Città #
Fairfield 1.311
Woodbridge 683
Ashburn 632
Seattle 583
Singapore 550
Houston 528
Hong Kong 476
Wilmington 448
Cambridge 430
Princeton 402
Jacksonville 272
Warsaw 255
Istanbul 216
Ann Arbor 213
Dublin 208
New York 194
Chandler 150
Helsinki 117
Moscow 111
San Diego 90
Des Moines 87
Brescia 64
London 57
Nanjing 45
Shanghai 44
Beijing 42
Boardman 36
Lappeenranta 27
Romola 23
Dearborn 21
Pune 18
Norwalk 17
Munich 16
Nanchang 14
Shenyang 14
Dong Ket 12
Toronto 12
Brno 11
Kilburn 11
Los Angeles 11
Changsha 10
Lancaster 10
Milan 10
Islington 9
Jinan 9
Olomouc 9
Chiswick 8
Hebei 8
Jiaxing 8
New Bedfont 8
Jakarta 7
Hanover 6
San Francisco 6
Tianjin 6
Hounslow 5
Kunming 5
Washington 5
Brussels 4
Chicago 4
Falkenstein 4
Frankfurt am Main 4
Gardone Val Trompia 4
Guangzhou 4
Gunzenhausen 4
Lanzhou 4
Strasbourg 4
São Paulo 4
Taipei 4
Zhengzhou 4
Zurich 4
Acton 3
Genova 3
Kocaeli 3
Markham 3
Miami Beach 3
Naples 3
New Delhi 3
Prescot 3
Reno 3
Rome 3
Salt Lake City 3
Sydney 3
Augusta 2
Berlin 2
Bologna 2
Bratislava 2
Castignano 2
Chelyabinsk 2
Clifton 2
Dongguan 2
Duncan 2
Esine 2
Fuzhou 2
Genzano di Lucania 2
Ghedi 2
Haikou 2
Hangzhou 2
Hefei 2
Jesolo 2
La Loggia 2
Totale 8.704
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Nome #
Very late-onset friedreich ataxia with laryngeal dystonia 271
A complex craniovertebral junction malformation in a patient with late onset glycogenosis 2 175
A Novel Mutation in the Stalk Domain of KIF5A Causes a Slowly Progressive Atypical Motor Syndrome 164
COVID-19 impact on consecutive neurological patients admitted to the emergency department 147
A new mutation in the mitochondrial tRNAAla gene in a patient with ophthalmoplegia and dysphagia 133
Interpretation of the epigenetic signature of facioscapulohumeral muscular dystrophy in light of genotype-phenotype studies 131
Critical illness myopathy 128
Cortico-spinal tDCS in ALS: A randomized, double-blind, sham-controlled trial 126
Small nerve fiber pathology in critical illness 122
C9orf72 Intermediate Alleles in Patients with Amyotrophic Lateral Sclerosis, Systemic Lupus Erythematosus, and Rheumatoid Arthritis 121
A high-dose bortezomib neuropathy with sensory ataxia and myelin involvement. 118
A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease. 118
Idiopathic hypocomplementemic urticarial vasculitis-linked neuropathy 118
A PCR-based protocol to accurately size C9orf72 intermediate-length alleles. 116
Choreo-athetosis in LRRK2 R1441C mutation: expanding the clinical phenotype. 113
Hemangioma of the semimembranosus muscle in a patient with late-onset glycogenosis II 105
Novel mitochondrial tRNALeu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype 102
Exploring Olfactory Function and Its Relation with Behavioral and Cognitive Impairment in Amyotrophic Lateral Sclerosis Patients: A Cross-Sectional Study. 101
Neuropathology of mitochondrial diseases. 100
Mitochondrial DNA-related disorders. 99
MR Neurography in Diagnosing Nondiabetic Lumbosacral Radiculoplexus Neuropathy 98
The brain in late-onset glycogenosis II: a structural and functional MRI study. 98
Coffee and amyotrophic lateral sclerosis: A possible preventive role 95
Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a NovelTYMPMutation: The Need for Early Diagnosis 94
Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD) 93
Clinical characteristics and outcomes of inpatients with neurologic disease and COVID-19 in Brescia, Lombardy, Italy 89
Editorial: Iron and Neurodegeneration 86
Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3 82
Snake-Eye Myelopathy and Surgical Prognosis: Case Series and Systematic Literature Review 81
Magnetic resonance imaging of the peripheral nerve 77
Muscle pain in mitochondrial diseases: a picture from the Italian network 75
Advances in quantitative imaging of genetic and acquired myopathies: Clinical applications and perspectives 75
Autosomal recessive Bethlem myopathy: A clinical, genetic and functional study 75
Autosomal dominant psychiatric disorders and mitochondrial DNA multiple deletions: Report of a family 74
Psychosocial impact of sport activity in neuromuscular disorders 72
Protein misfolding, amyotrophic lateral sclerosis and guanabenz: Protocol for a phase II RCT with futility design (ProMISe trial) 69
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis 68
Analysis of C9Orf72 Expansions in Patients with Systemic Lupus Erythematosus and Rheumatoid Arthritis: Preliminary Data 68
Impact of environmental factors and physical activity on disability and quality of life in CIDP 67
A novel CAPN1 mutation causes a pure hereditary spastic paraplegia in an Italian family 67
Eyelid ptosis from sympathetic nerve dysfunction mistaken as myopathy: A simple test to identify this condition 64
Vaccination recommendations for patients with neuromuscular disease 62
Genetic correlation between amyotrophic lateral sclerosis and schizophrenia 62
Strategies for treating mitochondrial disorders: An update 62
Prevalence of asymptomatic vertebral fractures in late-onset pompe disease 60
Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis? 59
Alterazioni delle fibre sensitive di piccolo calibro intra-epidermiche in pazienti con critical illness myopathy and neuropathy. Dati preliminari. 58
Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group 58
ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: A clinical, biochemical and molecular study 58
Frequency of diabetes and other comorbidities in chronic inflammatory demyelinating polyradiculoneuropathy and their impact on clinical presentation and response to therapy 57
Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases 57
Mitochondrial diseases: Advances and issues 56
C9orf72 Intermediate Repeats Confer Genetic Risk for Severe COVID-19 Pneumonia Independently of Age 56
Progress in enzyme replacement therapy in glycogen storage disease type II 55
Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript 55
Human leukocyte antigens class II in CIDP spectrum neuropathies 53
A 5-year clinical follow-up study from the Italian National Registry for FSHD 53
Late-onset glycogen storage disease type 2 53
RELEVANCE OF DIAGNOSTIC INVESTIGATIONS IN CHRONIC INFLAMMATORY DEMYELINATING POLIRADICULONEUROPATHY: DATA FROM THE ITALIAN CIDP DATABASE 52
LOPED study: Looking for an early diagnosis in a late-onset Pompe disease high-risk population 52
Plasma amino acids patterns and age of onset of amyotrophic lateral sclerosis 51
Muscle biopsy displaying "double trouble" pathology: Combined features of periodic paralysis and dermatomyositis 51
Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy 51
Reversible upper limb muscle weakness with selective loss of thick filaments 51
Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy 50
Lipomatosis incidence and characteristics in an Italian cohort of mitochondrial patients 50
The role of mitochondria in neurodegenerative diseases 49
Current options in the treatment of mitochondrial diseases 49
Imaging of the muscle 48
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis 48
Genotype-phenotype correlation in Pompe disease, a step forward 48
Dermatomyositis and retroperitoneal germ cell cancer 47
Subcutaneous immunoglobulin in CIDP and MMN: a different long-term clinical response? 47
Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications 46
Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene 46
Antimyoclonic effect of levetiracetam in MERRF syndrome 46
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy 45
The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy 45
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years 45
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study 45
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients 44
T-cell anti-apoptotic mechanisms in inflammatory myopathies 44
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-γA 44
A mobile app for patients with Pompe disease and its possible clinical applications 44
Late and severe myopathy in a patient with glycogenosis VII worsened by cyclosporin and amiodarone 44
Decreased platelet cytochrome c oxidase activity is accompanied by increased blood lactate concentration during exercise in patients with Alzheimer disease 43
Progressive external ophthalmoplegia: A new family with tremor and peripheral neuropathy [1] 43
Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy 43
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions 42
McArdle disease and sporadic inclusion body myositis 42
Sarcoidosis and inclusion body myositis 42
Redefining phenotypes associated with mitochondrial DNA single deletion 41
Spinal muscular atrophy and mitochondrial DNA depletion. Response to Berber et al. (2003) Acta Neuropathol 105:245-251 41
Limb-girdle muscular dystrophy-associated protein diseases 41
Risk factors for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): antecedent events, lifestyle and dietary habits. Data from the Italian CIDP Database 40
A novel mitochondrial tRNAPhe mutation causes MERRF syndrome 40
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability 40
Erythropoietin in amyotrophic lateral sclerosis: A multicentre, randomised, double blind, placebo controlled, phase III study 39
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network 38
A non-syndromic hearing loss caused by very low levels of the mtDNA A3243G mutation 38
Totale 7.144
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Categoria #
all - tutte 92.590
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 92.590
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020489 0 0 0 0 0 84 89 82 70 94 27 43
2020/20214.337 20 50 188 359 1.790 262 134 384 271 485 104 290
2021/20221.225 27 293 25 39 11 81 137 91 85 57 115 264
2022/2023860 223 22 22 21 50 266 3 53 103 13 36 48
2023/20241.565 61 29 146 57 56 267 47 45 487 27 38 305
2024/20251.350 28 11 48 503 459 301 0 0 0 0 0 0
Totale 10.727