CATALOGO DEI PRODOTTI DELLA RICERCA

TONIN, PAOLA
 Distribuzione geografica
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Continente #
NA - Nord America 3.458
EU - Europa 2.622
AS - Asia 991
OC - Oceania 7
SA - Sud America 7
AF - Africa 3
Continente sconosciuto - Info sul continente non disponibili 1
Totale 7.089
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Nazione #
US - Stati Uniti d'America 3.451
GB - Regno Unito 1.095
CN - Cina 871
SE - Svezia 316
FR - Francia 297
IE - Irlanda 235
DE - Germania 173
FI - Finlandia 173
IT - Italia 169
UA - Ucraina 87
KR - Corea 43
TR - Turchia 24
BE - Belgio 22
RU - Federazione Russa 15
VN - Vietnam 15
NL - Olanda 14
IR - Iran 10
AU - Australia 7
CA - Canada 7
IN - India 7
HK - Hong Kong 6
IL - Israele 4
BG - Bulgaria 3
ES - Italia 3
PT - Portogallo 3
CL - Cile 2
CO - Colombia 2
HR - Croazia 2
HU - Ungheria 2
LV - Lettonia 2
PL - Polonia 2
SG - Singapore 2
SK - Slovacchia (Repubblica Slovacca) 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AL - Albania 1
AR - Argentina 1
AT - Austria 1
AZ - Azerbaigian 1
BO - Bolivia 1
BR - Brasile 1
CH - Svizzera 1
EG - Egitto 1
IQ - Iraq 1
JP - Giappone 1
KG - Kirghizistan 1
KZ - Kazakistan 1
LK - Sri Lanka 1
LT - Lituania 1
LU - Lussemburgo 1
MA - Marocco 1
MK - Macedonia 1
MY - Malesia 1
NG - Nigeria 1
RO - Romania 1
SA - Arabia Saudita 1
UZ - Uzbekistan 1
Totale 7.089
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Città #
Southend 986
Jacksonville 603
Chandler 601
Woodbridge 540
Dublin 235
Ann Arbor 214
Houston 193
Ashburn 145
Beijing 145
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
Ningbo 30
Taizhou 30
Falls Church 28
Hangzhou 27
Taiyuan 26
Guangzhou 24
Boardman 23
Seattle 23
Jiaxing 22
Changsha 20
Zhengzhou 20
Lancaster 18
Redwood City 17
Brussels 16
Norwalk 16
Dearborn 15
Los Angeles 15
Milan 15
Fuzhou 13
Washington 13
Chicago 12
Lanzhou 12
Redmond 12
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
Toronto 5
Bartlesville 4
Brugherio 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
Austin 2
Bogotá 2
Bratislava 2
Cimavilla 2
Dalian 2
Edinburgh 2
Fremont 2
Lappeenranta 2
London 2
Madrid 2
Media 2
Monmouth Junction 2
Montemarano 2
Mumbai 2
Pergine Valsugana 2
Philadelphia 2
Qingdao 2
Saint Paul 2
Scafati 2
Shanghai 2
Singapore 2
Sofia 2
Totale 5.312
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Nome #
Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy. 112
Acute reversible paralysis in critically ill patients 108
The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy. 108
AZT-induced mitochondrial myopathy 104
Poor outcome in a mitochondrial neurogastrointestinal encephalomyopathy patient with a novel TYMP mutation: the need for early diagnosis. 103
Cutis verticis gyrata, mental retardation and Lennox-Gastaut syndrome: a case report 102
Mitochondrial sensorineural hearing loss: a retrospective study and a description of cochlear implantation in a MELAS patient. 100
Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases. 99
Human skeletal muscle as a target organ of trichloroethylene toxicity. 94
[Myopathy with lipid accumulation and type-II glutaric aciduria] 93
T-cell anti-apoptotic mechanisms in inflammatory myopathies 92
Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency. 92
The role of muscle biopsy in investigating isolated muscle pain 91
Duplication of dystrophin gene and dissimilar clinical phenotype in the same family 90
Endothelial dysfunction in mitochondrial diseases: biological and biochemical evidence of increased oxidative stress and peroxinitrite generation 90
Endothelial dysfunction and increased oxidative stress in mitochondrial diseases. 88
Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases 87
Chronic ophthalmoparesis in limb girdle muscular dystrophy 1C. 87
Transcription factors c-Jun/activator protein-1 and nuclear factor-kappa B in oxidative stress response in mithocondrial diseases 86
An adult-onset myopathy characterized by a double ring appearance of muscle fibers. 86
Increased expression of the normal cellular isoform of prion protein in inclusion-body myositis, inflammatory myopathies and denervation atrophy 85
New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy. 85
Metabolic causes of myoglobinuria. 85
SERCA1 and calsequestrin storage myopathy: a new surplus protein myopathy. 84
Increased protein nitration in mitochondrial diseases: evidence for vessel wall involvement. 84
Brody Disease: insights into biochemical features of SERCA1 and identification of a novel mutation. 83
Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta) 82
Autophagy, inflammation and innate immunity in inflammatory myopathies. 82
Critical illness myopathy and neuropathy 81
Benign acute viral myositis in African migrants: a clinical, serological and pathological study. 81
Reversible upper limb muscle weakness with selective loss of thick filaments 81
Calpain 3 deficiency presenting as fiber type disproportion. 79
Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy. 79
A case of multiple sclerosis and necrotizing autoimmune myopathy with anti-SRP antibodies 79
A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina). 78
McArdle disease and sporadic inclusion-body myositis. 77
Expression of Protein Kinase C isoforms and interleukin-1beta in myofibrillar myopathy 76
Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency. 76
Spinal arachnoid cyst as a cause of isolated, progressive, bilateral C5-C6 radiculopathy 76
Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates. 75
Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency. 75
Chronic graft-versus-host-disease-related polymyositis: a 17-months-old child with a rare and late complication of haematopoietic stem cell transplantation 74
Expression of late myogenic differentiation markers in sarcoplasmic masses of patients with myotonic dystrophy 73
Complex glycerol kinase deficiency leads to psychomotor and body-growth failure 72
Current options in the treatment of mitochondrial diseases. 70
Dermatomyositis and retroperitoneal germ cell cancer 69
Critically ill patients: immunological evidence of inflammation in muscle biopsy 68
Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype. 68
A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia 67
Sarcoidosis and inclusion body myositis. 67
Partial tandem duplication of mtDNA-tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy. 67
Central-peripheral sensory axonopathy in a juvenile case of Alpers-Huttenlocher disease 66
Dilated cardiomyopathy requiring cardiac transplantation as initial manifestation of Xp21 Becker type muscular dystrophy. 66
Amyloid myopathy: an intriguing diagnosis 66
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. 65
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. 65
Polyglucosan body myopathy: a new case 64
Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease. 64
Short stature and high serum transaminase levels: growth hormone deficiency in a child with Becker muscular dystrophy 64
Teaching NeuroImages: neuroradiologic findings in pontine and extrapontine myelinolysis: clue for the pathogenesis? 63
Vaccination recommendations for patients with neuromuscular disease. 63
Involvement of the mitochondrial compartment in human NCL fibroblasts. 62
Redefining phenotypes associated with mitochondrial DNA single deletion 62
Multiple acyl-COA dehydrogenase deficiency in elderly carriers 62
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population 61
A novel emerin gene mutation in Emery Dreifuss muscular dystrophy patient with spontaneous chordae tendinae rupture 61
The role of mitochondria in neurodegenerative diseases. 61
Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease) 60
Progress in Enzyme Replacement Therapy in Glycogen Storage Disease Type II. 60
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network 60
Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement. 59
Neuropathology of mitochondrial diseases 59
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. 58
Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene. 57
Novel mitochondrial tRNA(Leu(CUN)) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype 56
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]. 56
Multineuropathy in a patient with HBV infection, polyarteritis nodosa and celiac disease. 55
Revisiting mitochondrial ocular myopathies: a study from the Italian Network 55
Myoclonus in mitochondrial disorders 54
Genotype-phenotype correlation in Pompe disease, a step forward 52
Teaching Video NeuroImages: Bent spine syndrome as an early presentation of late-onset Pompe disease 50
Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies 50
Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy. 48
Facioscapulohumeral muscular dystrophy: a multicenter study on hearing function 47
Non-hematologic toxicity of bortezomib in multiple myeloma: the neuromuscular and cardiovascular adverse effects 46
Acetylcholine receptor-antibody-positive myasthenia gravis presenting with early atrophy and nonfluctuating weakness of proximal limb muscles 46
Phenotype modulators in myophosphorylase deficiency 45
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes 45
Expanding the clinical and genetic spectrum of pathogenic variants in STIM1 45
Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia 44
Eyelid ptosis from sympathetic nerve dysfunction mistaken as myopathy: a simple test to identify this condition 44
Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients 44
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? 42
Congenital myopathies: clinical phenotypes and new diagnostic tools 42
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 42
Clinical follow-up of a case of complex glycerol kinase deficiency with severe body-growth and psychomotor delay 41
Adult-onset mitochondrial movement disorders: a national picture from the Italian Network 38
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 35
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 34
Muscle pain in mitochondrial diseases: a picture from the Italian network 34
Totale 6.908
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Categoria #
all - tutte 22.853
article - articoli 22.598
book - libri 0
conference - conferenze 255
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 45.706
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201911 0 0 0 0 0 0 0 0 0 0 1 10
2019/2020959 107 14 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
2023/2024655 35 88 63 80 85 138 26 64 14 59 3 0
Totale 7.206