CATALOGO DEI PRODOTTI DELLA RICERCA

TONIN, PAOLA
 Distribuzione geografica
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Continente #
NA - Nord America 3.515
EU - Europa 2.800
AS - Asia 1.253
SA - Sud America 9
OC - Oceania 7
AF - Africa 4
Continente sconosciuto - Info sul continente non disponibili 1
Totale 7.589
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Nazione #
US - Stati Uniti d'America 3.508
GB - Regno Unito 1.095
CN - Cina 908
SE - Svezia 316
FR - Francia 297
IE - Irlanda 236
SG - Singapore 214
RU - Federazione Russa 183
DE - Germania 173
FI - Finlandia 173
IT - Italia 172
UA - Ucraina 87
KR - Corea 47
TR - Turchia 25
BE - Belgio 22
NL - Olanda 16
VN - Vietnam 15
IR - Iran 10
AU - Australia 7
CA - Canada 7
IN - India 7
HK - Hong Kong 6
ES - Italia 5
IL - Israele 5
BG - Bulgaria 3
PT - Portogallo 3
UZ - Uzbekistan 3
AR - Argentina 2
CH - Svizzera 2
CL - Cile 2
CO - Colombia 2
EG - Egitto 2
HR - Croazia 2
HU - Ungheria 2
JP - Giappone 2
KZ - Kazakistan 2
LV - Lettonia 2
MY - Malesia 2
PL - Polonia 2
SK - Slovacchia (Repubblica Slovacca) 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AE - Emirati Arabi Uniti 1
AL - Albania 1
AM - Armenia 1
AT - Austria 1
AZ - Azerbaigian 1
BO - Bolivia 1
BR - Brasile 1
CZ - Repubblica Ceca 1
EC - Ecuador 1
IQ - Iraq 1
KG - Kirghizistan 1
LK - Sri Lanka 1
LT - Lituania 1
LU - Lussemburgo 1
MA - Marocco 1
MK - Macedonia 1
NG - Nigeria 1
RO - Romania 1
SA - Arabia Saudita 1
Totale 7.589
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Città #
Southend 986
Jacksonville 603
Chandler 601
Woodbridge 540
Dublin 236
Ann Arbor 214
Houston 193
Beijing 160
Ashburn 154
Singapore 152
Wilmington 115
Jinan 110
Lawrence 109
Princeton 109
Verona 78
Shenyang 73
New York 69
Nanjing 67
Hebei 50
Tianjin 48
Seoul 37
Nanchang 36
Sindelfingen 36
Helsinki 32
Haikou 31
Boardman 30
Ningbo 30
Taizhou 30
Falls Church 28
Hangzhou 27
Taiyuan 26
Guangzhou 25
Seattle 23
Jiaxing 22
Changsha 20
Zhengzhou 20
Lancaster 18
Redwood City 17
Brussels 16
Los Angeles 16
Norwalk 16
Dearborn 15
Milan 15
Fuzhou 13
Washington 13
Chicago 12
Kent 12
Lanzhou 12
Redmond 12
Dallas 11
Auburn Hills 9
Clearwater 9
Bologna 8
San Francisco 8
Riva 7
Ardabil 6
Augusta 6
Detroit 6
Dong Ket 6
Düsseldorf 6
Fairfield 6
Hong Kong 6
Waanrode 6
Gangdong-gu 5
Novokuznetsk 5
Phoenix 5
Rome 5
Saint Paul 5
Toronto 5
Bartlesville 4
Brugherio 4
Buk-gu 4
Kemerovo 4
Saint Louis 4
San Diego 4
San Mateo 4
Dongguan 3
Las Vegas 3
Lisbon 3
Mehlingen 3
Melbourne 3
Sabz 3
Tappahannock 3
Tashkent 3
Almaty 2
Armilla 2
Austin 2
Bogotá 2
Bratislava 2
Cairo 2
Catania 2
Cimavilla 2
Dalian 2
Edinburgh 2
Fremont 2
Lappeenranta 2
London 2
Madrid 2
Media 2
Monmouth Junction 2
Totale 5.521
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Nome #
Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy. 126
The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy. 118
Acute reversible paralysis in critically ill patients 113
Poor outcome in a mitochondrial neurogastrointestinal encephalomyopathy patient with a novel TYMP mutation: the need for early diagnosis. 112
AZT-induced mitochondrial myopathy 109
Cutis verticis gyrata, mental retardation and Lennox-Gastaut syndrome: a case report 107
Mitochondrial sensorineural hearing loss: a retrospective study and a description of cochlear implantation in a MELAS patient. 105
Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases. 105
Human skeletal muscle as a target organ of trichloroethylene toxicity. 102
[Myopathy with lipid accumulation and type-II glutaric aciduria] 99
T-cell anti-apoptotic mechanisms in inflammatory myopathies 97
Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency. 97
Endothelial dysfunction in mitochondrial diseases: biological and biochemical evidence of increased oxidative stress and peroxinitrite generation 95
The role of muscle biopsy in investigating isolated muscle pain 94
Duplication of dystrophin gene and dissimilar clinical phenotype in the same family 92
New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy. 92
Metabolic causes of myoglobinuria. 92
Chronic ophthalmoparesis in limb girdle muscular dystrophy 1C. 92
Endothelial dysfunction and increased oxidative stress in mitochondrial diseases. 91
Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases 90
An adult-onset myopathy characterized by a double ring appearance of muscle fibers. 89
Benign acute viral myositis in African migrants: a clinical, serological and pathological study. 89
SERCA1 and calsequestrin storage myopathy: a new surplus protein myopathy. 88
Transcription factors c-Jun/activator protein-1 and nuclear factor-kappa B in oxidative stress response in mithocondrial diseases 88
Brody Disease: insights into biochemical features of SERCA1 and identification of a novel mutation. 88
Increased expression of the normal cellular isoform of prion protein in inclusion-body myositis, inflammatory myopathies and denervation atrophy 87
Increased protein nitration in mitochondrial diseases: evidence for vessel wall involvement. 87
Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta) 87
Autophagy, inflammation and innate immunity in inflammatory myopathies. 86
A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina). 85
Reversible upper limb muscle weakness with selective loss of thick filaments 85
Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy. 84
A case of multiple sclerosis and necrotizing autoimmune myopathy with anti-SRP antibodies 84
Critical illness myopathy and neuropathy 83
Calpain 3 deficiency presenting as fiber type disproportion. 83
Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates. 83
Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency. 82
McArdle disease and sporadic inclusion-body myositis. 81
Expression of Protein Kinase C isoforms and interleukin-1beta in myofibrillar myopathy 80
Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency. 80
Spinal arachnoid cyst as a cause of isolated, progressive, bilateral C5-C6 radiculopathy 78
Chronic graft-versus-host-disease-related polymyositis: a 17-months-old child with a rare and late complication of haematopoietic stem cell transplantation 78
Complex glycerol kinase deficiency leads to psychomotor and body-growth failure 75
Expression of late myogenic differentiation markers in sarcoplasmic masses of patients with myotonic dystrophy 75
Current options in the treatment of mitochondrial diseases. 74
A novel emerin gene mutation in Emery Dreifuss muscular dystrophy patient with spontaneous chordae tendinae rupture 74
Amyloid myopathy: an intriguing diagnosis 74
Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype. 72
Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease. 72
Critically ill patients: immunological evidence of inflammation in muscle biopsy 71
Partial tandem duplication of mtDNA-tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy. 71
Dilated cardiomyopathy requiring cardiac transplantation as initial manifestation of Xp21 Becker type muscular dystrophy. 71
Central-peripheral sensory axonopathy in a juvenile case of Alpers-Huttenlocher disease 70
Dermatomyositis and retroperitoneal germ cell cancer 70
A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia 70
Sarcoidosis and inclusion body myositis. 70
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. 70
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. 68
Polyglucosan body myopathy: a new case 67
Progress in Enzyme Replacement Therapy in Glycogen Storage Disease Type II. 66
Short stature and high serum transaminase levels: growth hormone deficiency in a child with Becker muscular dystrophy 66
Involvement of the mitochondrial compartment in human NCL fibroblasts. 65
Teaching NeuroImages: neuroradiologic findings in pontine and extrapontine myelinolysis: clue for the pathogenesis? 65
Vaccination recommendations for patients with neuromuscular disease. 65
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population 64
Redefining phenotypes associated with mitochondrial DNA single deletion 64
Multiple acyl-COA dehydrogenase deficiency in elderly carriers 64
The role of mitochondria in neurodegenerative diseases. 64
Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease) 63
Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement. 63
Un caso di insufficienza renale acuta secondaria a malattia di MC-Ardle ad esordio tardivo. [A case of acute renal failure secondary to late-onset McArdle's disease]. 63
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network 63
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. 62
Neuropathology of mitochondrial diseases 62
Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene. 60
Myoclonus in mitochondrial disorders 60
Novel mitochondrial tRNA(Leu(CUN)) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype 59
Multineuropathy in a patient with HBV infection, polyarteritis nodosa and celiac disease. 59
Revisiting mitochondrial ocular myopathies: a study from the Italian Network 57
Genotype-phenotype correlation in Pompe disease, a step forward 55
Non-hematologic toxicity of bortezomib in multiple myeloma: the neuromuscular and cardiovascular adverse effects 55
Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies 54
Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy. 53
Teaching Video NeuroImages: Bent spine syndrome as an early presentation of late-onset Pompe disease 52
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes 52
Facioscapulohumeral muscular dystrophy: a multicenter study on hearing function 50
Acetylcholine receptor-antibody-positive myasthenia gravis presenting with early atrophy and nonfluctuating weakness of proximal limb muscles 50
Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience 50
Expanding the clinical and genetic spectrum of pathogenic variants in STIM1 50
Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients 49
Phenotype modulators in myophosphorylase deficiency 48
Eyelid ptosis from sympathetic nerve dysfunction mistaken as myopathy: a simple test to identify this condition 46
Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia 45
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? 45
Congenital myopathies: clinical phenotypes and new diagnostic tools 45
Clinical follow-up of a case of complex glycerol kinase deficiency with severe body-growth and psychomotor delay 44
Adult-onset mitochondrial movement disorders: a national picture from the Italian Network 42
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 39
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 38
Muscle pain in mitochondrial diseases: a picture from the Italian network 36
Totale 7.349
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Categoria #
all - tutte 27.253
article - articoli 26.968
book - libri 0
conference - conferenze 285
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 54.506
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020838 0 0 2 82 95 123 134 65 39 89 51 158
2020/2021902 88 153 35 123 113 108 9 56 46 6 126 39
2021/2022979 107 408 2 69 27 25 11 57 25 11 56 181
2022/20231.723 148 155 185 279 164 390 25 97 192 16 52 20
2023/2024815 35 88 63 80 85 138 26 64 14 59 105 58
2024/2025340 129 153 58 0 0 0 0 0 0 0 0 0
Totale 7.706