CATALOGO DEI PRODOTTI DELLA RICERCA

TONIN, PAOLA
 Distribuzione geografica
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Continente #
NA - Nord America 3.584
EU - Europa 2.905
AS - Asia 1.609
SA - Sud America 12
AF - Africa 11
OC - Oceania 7
Continente sconosciuto - Info sul continente non disponibili 1
Totale 8.129
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Nazione #
US - Stati Uniti d'America 3.577
GB - Regno Unito 1.095
CN - Cina 994
SG - Singapore 469
SE - Svezia 316
FR - Francia 297
RU - Federazione Russa 275
IE - Irlanda 236
IT - Italia 177
DE - Germania 176
FI - Finlandia 174
UA - Ucraina 87
KR - Corea 48
TR - Turchia 25
BE - Belgio 22
NL - Olanda 20
VN - Vietnam 15
ID - Indonesia 11
IR - Iran 10
AU - Australia 7
CA - Canada 7
HK - Hong Kong 7
IN - India 7
TG - Togo 7
ES - Italia 5
IL - Israele 5
BR - Brasile 4
BG - Bulgaria 3
MY - Malesia 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
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
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
TH - Thailandia 1
Totale 8.129
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Città #
Southend 986
Jacksonville 603
Chandler 601
Woodbridge 540
Singapore 390
Dublin 236
Ann Arbor 214
Houston 193
Beijing 161
Ashburn 155
Wilmington 115
Jinan 111
Lawrence 109
Princeton 109
Verona 78
Shenyang 73
New York 69
Nanjing 67
Hebei 50
Tianjin 48
Seoul 38
Nanchang 36
Sindelfingen 36
Helsinki 33
Haikou 31
Boardman 30
Ningbo 30
Taizhou 30
Falls Church 28
Guangzhou 27
Hangzhou 27
Taiyuan 26
Seattle 23
Jiaxing 22
Changsha 20
Zhengzhou 20
Lancaster 18
Redwood City 17
Santa Clara 17
Brussels 16
Los Angeles 16
Norwalk 16
Dearborn 15
Milan 15
Washington 15
Fuzhou 13
Chicago 12
Kent 12
Lanzhou 12
Redmond 12
Dallas 11
Jakarta 11
Moscow 10
Auburn Hills 9
Clearwater 9
Bologna 8
San Francisco 8
Hong Kong 7
Lomé 7
Riva 7
Ardabil 6
Augusta 6
Detroit 6
Dong Ket 6
Düsseldorf 6
Fairfield 6
Waanrode 6
Amsterdam 5
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
Shanghai 4
Dongguan 3
Las Vegas 3
Lisbon 3
Mehlingen 3
Melbourne 3
Newark 3
Sabz 3
Tappahannock 3
Tashkent 3
Almaty 2
Armilla 2
Austin 2
Bogotá 2
Bratislava 2
Cairo 2
Catania 2
Chongqing 2
Cimavilla 2
Totale 5.812
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Nome #
Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy. 130
The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy. 123
Acute reversible paralysis in critically ill patients 120
Poor outcome in a mitochondrial neurogastrointestinal encephalomyopathy patient with a novel TYMP mutation: the need for early diagnosis. 116
AZT-induced mitochondrial myopathy 115
Cutis verticis gyrata, mental retardation and Lennox-Gastaut syndrome: a case report 110
Mitochondrial sensorineural hearing loss: a retrospective study and a description of cochlear implantation in a MELAS patient. 110
Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases. 110
Human skeletal muscle as a target organ of trichloroethylene toxicity. 105
[Myopathy with lipid accumulation and type-II glutaric aciduria] 103
Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency. 102
T-cell anti-apoptotic mechanisms in inflammatory myopathies 101
Metabolic causes of myoglobinuria. 100
Endothelial dysfunction in mitochondrial diseases: biological and biochemical evidence of increased oxidative stress and peroxinitrite generation 99
The role of muscle biopsy in investigating isolated muscle pain 99
Endothelial dysfunction and increased oxidative stress in mitochondrial diseases. 98
Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases 96
Duplication of dystrophin gene and dissimilar clinical phenotype in the same family 95
New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy. 95
Chronic ophthalmoparesis in limb girdle muscular dystrophy 1C. 95
Transcription factors c-Jun/activator protein-1 and nuclear factor-kappa B in oxidative stress response in mithocondrial diseases 94
Increased protein nitration in mitochondrial diseases: evidence for vessel wall involvement. 94
An adult-onset myopathy characterized by a double ring appearance of muscle fibers. 94
Increased expression of the normal cellular isoform of prion protein in inclusion-body myositis, inflammatory myopathies and denervation atrophy 93
Benign acute viral myositis in African migrants: a clinical, serological and pathological study. 93
Autophagy, inflammation and innate immunity in inflammatory myopathies. 92
SERCA1 and calsequestrin storage myopathy: a new surplus protein myopathy. 91
Brody Disease: insights into biochemical features of SERCA1 and identification of a novel mutation. 91
Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta) 90
Calpain 3 deficiency presenting as fiber type disproportion. 89
A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina). 89
Critical illness myopathy and neuropathy 88
Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy. 88
A case of multiple sclerosis and necrotizing autoimmune myopathy with anti-SRP antibodies 88
McArdle disease and sporadic inclusion-body myositis. 86
Reversible upper limb muscle weakness with selective loss of thick filaments 86
Expression of Protein Kinase C isoforms and interleukin-1beta in myofibrillar myopathy 85
Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates. 85
Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency. 85
Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency. 83
Spinal arachnoid cyst as a cause of isolated, progressive, bilateral C5-C6 radiculopathy 83
Chronic graft-versus-host-disease-related polymyositis: a 17-months-old child with a rare and late complication of haematopoietic stem cell transplantation 83
A novel emerin gene mutation in Emery Dreifuss muscular dystrophy patient with spontaneous chordae tendinae rupture 82
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. 81
Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease. 80
Amyloid myopathy: an intriguing diagnosis 79
Complex glycerol kinase deficiency leads to psychomotor and body-growth failure 78
Current options in the treatment of mitochondrial diseases. 78
Expression of late myogenic differentiation markers in sarcoplasmic masses of patients with myotonic dystrophy 76
Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype. 75
Central-peripheral sensory axonopathy in a juvenile case of Alpers-Huttenlocher disease 74
A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia 74
Sarcoidosis and inclusion body myositis. 74
Partial tandem duplication of mtDNA-tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy. 74
Dilated cardiomyopathy requiring cardiac transplantation as initial manifestation of Xp21 Becker type muscular dystrophy. 74
Involvement of the mitochondrial compartment in human NCL fibroblasts. 73
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. 73
Critically ill patients: immunological evidence of inflammation in muscle biopsy 72
Dermatomyositis and retroperitoneal germ cell cancer 72
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. 72
Vaccination recommendations for patients with neuromuscular disease. 71
The role of mitochondria in neurodegenerative diseases. 71
Progress in Enzyme Replacement Therapy in Glycogen Storage Disease Type II. 69
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network 69
Short stature and high serum transaminase levels: growth hormone deficiency in a child with Becker muscular dystrophy 69
Redefining phenotypes associated with mitochondrial DNA single deletion 69
Multiple acyl-COA dehydrogenase deficiency in elderly carriers 69
Polyglucosan body myopathy: a new case 68
Teaching NeuroImages: neuroradiologic findings in pontine and extrapontine myelinolysis: clue for the pathogenesis? 68
Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease) 67
Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement. 67
Neuropathology of mitochondrial diseases 67
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]. 66
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population 66
Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene. 65
Novel mitochondrial tRNA(Leu(CUN)) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype 62
Myoclonus in mitochondrial disorders 62
Non-hematologic toxicity of bortezomib in multiple myeloma: the neuromuscular and cardiovascular adverse effects 62
Multineuropathy in a patient with HBV infection, polyarteritis nodosa and celiac disease. 60
Revisiting mitochondrial ocular myopathies: a study from the Italian Network 59
Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies 59
Genotype-phenotype correlation in Pompe disease, a step forward 58
Teaching Video NeuroImages: Bent spine syndrome as an early presentation of late-onset Pompe disease 58
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 58
Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy. 57
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes 57
Acetylcholine receptor-antibody-positive myasthenia gravis presenting with early atrophy and nonfluctuating weakness of proximal limb muscles 56
Expanding the clinical and genetic spectrum of pathogenic variants in STIM1 55
Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients 52
Phenotype modulators in myophosphorylase deficiency 51
Facioscapulohumeral muscular dystrophy: a multicenter study on hearing function 51
Clinical follow-up of a case of complex glycerol kinase deficiency with severe body-growth and psychomotor delay 49
Congenital myopathies: clinical phenotypes and new diagnostic tools 49
Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia 48
Adult-onset mitochondrial movement disorders: a national picture from the Italian Network 48
Eyelid ptosis from sympathetic nerve dysfunction mistaken as myopathy: a simple test to identify this condition 47
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? 47
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 47
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 42
Muscle pain in mitochondrial diseases: a picture from the Italian network 40
Totale 7.788
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Categoria #
all - tutte 29.527
article - articoli 29.218
book - libri 0
conference - conferenze 309
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 59.054
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020754 0 0 0 0 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
2024/2025881 129 153 76 418 105 0 0 0 0 0 0 0
Totale 8.247