IRIS Institutional Research Information System - OPENBS Open Archive UniBS

FILOSTO, Massimiliano
 Distribuzione geografica
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Continente #
NA - Nord America 6.554
EU - Europa 1.550
AS - Asia 1.004
SA - Sud America 6
AF - Africa 4
Continente sconosciuto - Info sul continente non disponibili 3
OC - Oceania 3
Totale 9.124
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Nazione #
US - Stati Uniti d'America 6.538
HK - Hong Kong 477
UA - Ucraina 329
PL - Polonia 254
SG - Singapore 240
CN - Cina 229
IE - Irlanda 207
IT - Italia 184
GB - Regno Unito 157
FI - Finlandia 154
DE - Germania 150
SE - Svezia 44
FR - Francia 31
IN - India 30
CZ - Repubblica Ceca 20
CA - Canada 14
VN - Vietnam 13
RU - Federazione Russa 5
BE - Belgio 4
BR - Brasile 4
MU - Mauritius 4
TR - Turchia 4
TW - Taiwan 4
AT - Austria 3
AU - Australia 3
EU - Europa 3
NL - Olanda 3
SK - Slovacchia (Repubblica Slovacca) 2
AR - Argentina 1
GR - Grecia 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
MS - Montserrat 1
PE - Perù 1
RO - Romania 1
SA - Arabia Saudita 1
Totale 9.124
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Città #
Fairfield 1.311
Woodbridge 683
Ashburn 632
Seattle 583
Houston 528
Hong Kong 476
Wilmington 448
Cambridge 430
Princeton 402
Jacksonville 272
Warsaw 254
Ann Arbor 213
Dublin 207
New York 194
Chandler 150
Singapore 141
Helsinki 113
San Diego 90
Des Moines 87
Brescia 62
London 55
Nanjing 45
Shanghai 43
Beijing 39
Boardman 36
Lappeenranta 27
Dearborn 21
Pune 18
Norwalk 17
Nanchang 14
Shenyang 14
Dong Ket 12
Brno 11
Kilburn 11
Los Angeles 11
Toronto 11
Lancaster 10
Milan 10
Changsha 9
Islington 9
Jinan 9
Olomouc 9
Chiswick 8
Hebei 8
Jiaxing 8
New Bedfont 8
Hanover 6
San Francisco 6
Tianjin 6
Hounslow 5
Kunming 5
Washington 5
Brussels 4
Chicago 4
Gardone Val Trompia 4
Gunzenhausen 4
Lanzhou 4
Strasbourg 4
São Paulo 4
Taipei 4
Acton 3
Falkenstein 3
Genova 3
Kocaeli 3
Markham 3
Miami Beach 3
Munich 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
Clifton 2
Duncan 2
Esine 2
Fuzhou 2
Genzano di Lucania 2
Ghedi 2
Haikou 2
Hangzhou 2
Hefei 2
Jesolo 2
La Loggia 2
Lendinara 2
Mayfair 2
San Jose 2
Taizhou 2
Teramo 2
Tesero 2
Trento 2
Trieste 2
Verona 2
Wandsworth 2
Zhengzhou 2
Totale 7.908
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Nome #
Very late-onset friedreich ataxia with laryngeal dystonia 262
A complex craniovertebral junction malformation in a patient with late onset glycogenosis 2 168
A Novel Mutation in the Stalk Domain of KIF5A Causes a Slowly Progressive Atypical Motor Syndrome 151
COVID-19 impact on consecutive neurological patients admitted to the emergency department 141
Interpretation of the epigenetic signature of facioscapulohumeral muscular dystrophy in light of genotype-phenotype studies 127
A new mutation in the mitochondrial tRNAAla gene in a patient with ophthalmoplegia and dysphagia 127
Critical illness myopathy 124
Small nerve fiber pathology in critical illness 118
Cortico-spinal tDCS in ALS: A randomized, double-blind, sham-controlled trial 118
C9orf72 Intermediate Alleles in Patients with Amyotrophic Lateral Sclerosis, Systemic Lupus Erythematosus, and Rheumatoid Arthritis 115
Idiopathic hypocomplementemic urticarial vasculitis-linked neuropathy 115
A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease. 112
A high-dose bortezomib neuropathy with sensory ataxia and myelin involvement. 110
A PCR-based protocol to accurately size C9orf72 intermediate-length alleles. 110
Choreo-athetosis in LRRK2 R1441C mutation: expanding the clinical phenotype. 107
Hemangioma of the semimembranosus muscle in a patient with late-onset glycogenosis II 99
Novel mitochondrial tRNALeu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype 99
Neuropathology of mitochondrial diseases. 97
Exploring Olfactory Function and Its Relation with Behavioral and Cognitive Impairment in Amyotrophic Lateral Sclerosis Patients: A Cross-Sectional Study. 97
Mitochondrial DNA-related disorders. 95
MR Neurography in Diagnosing Nondiabetic Lumbosacral Radiculoplexus Neuropathy 94
The brain in late-onset glycogenosis II: a structural and functional MRI study. 92
Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a NovelTYMPMutation: The Need for Early Diagnosis 91
Coffee and amyotrophic lateral sclerosis: A possible preventive role 85
Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD) 84
Editorial: Iron and Neurodegeneration 82
Clinical characteristics and outcomes of inpatients with neurologic disease and COVID-19 in Brescia, Lombardy, Italy 79
Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3 78
Magnetic resonance imaging of the peripheral nerve 73
Snake-Eye Myelopathy and Surgical Prognosis: Case Series and Systematic Literature Review 71
Autosomal dominant psychiatric disorders and mitochondrial DNA multiple deletions: Report of a family 71
Muscle pain in mitochondrial diseases: a picture from the Italian network 71
Advances in quantitative imaging of genetic and acquired myopathies: Clinical applications and perspectives 71
Psychosocial impact of sport activity in neuromuscular disorders 69
Autosomal recessive Bethlem myopathy: A clinical, genetic and functional study 69
Protein misfolding, amyotrophic lateral sclerosis and guanabenz: Protocol for a phase II RCT with futility design (ProMISe trial) 65
Impact of environmental factors and physical activity on disability and quality of life in CIDP 61
Eyelid ptosis from sympathetic nerve dysfunction mistaken as myopathy: A simple test to identify this condition 61
Analysis of C9Orf72 Expansions in Patients with Systemic Lupus Erythematosus and Rheumatoid Arthritis: Preliminary Data 61
A novel CAPN1 mutation causes a pure hereditary spastic paraplegia in an Italian family 60
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis 59
Vaccination recommendations for patients with neuromuscular disease 58
Strategies for treating mitochondrial disorders: An update 58
Genetic correlation between amyotrophic lateral sclerosis and schizophrenia 57
Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis? 55
ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: A clinical, biochemical and molecular study 54
Alterazioni delle fibre sensitive di piccolo calibro intra-epidermiche in pazienti con critical illness myopathy and neuropathy. Dati preliminari. 53
Prevalence of asymptomatic vertebral fractures in late-onset pompe disease 53
Frequency of diabetes and other comorbidities in chronic inflammatory demyelinating polyradiculoneuropathy and their impact on clinical presentation and response to therapy 52
Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript 51
Mitochondrial diseases: Advances and issues 50
Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases 50
C9orf72 Intermediate Repeats Confer Genetic Risk for Severe COVID-19 Pneumonia Independently of Age 50
Plasma amino acids patterns and age of onset of amyotrophic lateral sclerosis 49
Late-onset glycogen storage disease type 2 49
LOPED study: Looking for an early diagnosis in a late-onset Pompe disease high-risk population 49
RELEVANCE OF DIAGNOSTIC INVESTIGATIONS IN CHRONIC INFLAMMATORY DEMYELINATING POLIRADICULONEUROPATHY: DATA FROM THE ITALIAN CIDP DATABASE 48
Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy 48
A 5-year clinical follow-up study from the Italian National Registry for FSHD 47
Reversible upper limb muscle weakness with selective loss of thick filaments 47
Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy 46
Progress in enzyme replacement therapy in glycogen storage disease type II 46
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 45
Lipomatosis incidence and characteristics in an Italian cohort of mitochondrial patients 45
Imaging of the muscle 44
Human leukocyte antigens class II in CIDP spectrum neuropathies 44
The role of mitochondria in neurodegenerative diseases 44
Genotype-phenotype correlation in Pompe disease, a step forward 44
Antimyoclonic effect of levetiracetam in MERRF syndrome 43
Dermatomyositis and retroperitoneal germ cell cancer 43
Subcutaneous immunoglobulin in CIDP and MMN: a different long-term clinical response? 43
Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications 42
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis 42
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years 42
Muscle biopsy displaying "double trouble" pathology: Combined features of periodic paralysis and dermatomyositis 42
Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene 41
T-cell anti-apoptotic mechanisms in inflammatory myopathies 41
The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy 41
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study 41
Current options in the treatment of mitochondrial diseases 41
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-γA 40
Decreased platelet cytochrome c oxidase activity is accompanied by increased blood lactate concentration during exercise in patients with Alzheimer disease 40
Progressive external ophthalmoplegia: A new family with tremor and peripheral neuropathy [1] 39
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients 38
A mobile app for patients with Pompe disease and its possible clinical applications 38
Spinal muscular atrophy and mitochondrial DNA depletion. Response to Berber et al. (2003) Acta Neuropathol 105:245-251 38
Sarcoidosis and inclusion body myositis 37
Limb-girdle muscular dystrophy-associated protein diseases 37
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions 36
Redefining phenotypes associated with mitochondrial DNA single deletion 36
Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy 36
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability 36
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network 35
McArdle disease and sporadic inclusion body myositis 35
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy 34
Risk factors for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): antecedent events, lifestyle and dietary habits. Data from the Italian CIDP Database 34
Late and severe myopathy in a patient with glycogenosis VII worsened by cyclosporin and amiodarone 34
Erythropoietin in amyotrophic lateral sclerosis: A multicentre, randomised, double blind, placebo controlled, phase III study 34
A novel mitochondrial tRNAPhe mutation causes MERRF syndrome 34
P301L Tau mutation and non-Alzheimer dementias in Italy 34
Totale 6.602
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Categoria #
all - tutte 79.227
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 79.227
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020709 0 39 34 91 56 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
2024/202536 28 8 0 0 0 0 0 0 0 0 0 0
Totale 9.413