CATALOGO DEI PRODOTTI DELLA RICERCA

TONIN, PAOLA
 Distribuzione geografica
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Continente #
NA - Nord America 6.627
EU - Europa 5.297
AS - Asia 4.318
SA - Sud America 618
AF - Africa 112
OC - Oceania 13
Continente sconosciuto - Info sul continente non disponibili 1
Totale 16.986
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Nazione #
US - Stati Uniti d'America 6.532
RU - Federazione Russa 2.053
SG - Singapore 1.700
CN - Cina 1.332
GB - Regno Unito 1.172
BR - Brasile 506
IT - Italia 386
HK - Hong Kong 367
VN - Vietnam 367
SE - Svezia 332
FR - Francia 326
DE - Germania 270
IE - Irlanda 241
FI - Finlandia 221
KR - Corea 178
UA - Ucraina 95
BD - Bangladesh 67
NL - Olanda 52
IN - India 50
CA - Canada 46
TR - Turchia 45
AR - Argentina 43
ID - Indonesia 35
JP - Giappone 34
MX - Messico 32
ZA - Sudafrica 29
PL - Polonia 28
ES - Italia 24
IQ - Iraq 23
BE - Belgio 22
NG - Nigeria 21
PK - Pakistan 20
AT - Austria 17
MA - Marocco 17
UZ - Uzbekistan 17
EC - Ecuador 16
CL - Cile 13
AU - Australia 12
PY - Paraguay 12
VE - Venezuela 11
IR - Iran 10
IL - Israele 9
LT - Lituania 9
MY - Malesia 9
AE - Emirati Arabi Uniti 8
BJ - Benin 8
CO - Colombia 8
KE - Kenya 7
KZ - Kazakistan 7
TG - Togo 7
CH - Svizzera 6
JO - Giordania 6
NP - Nepal 6
PH - Filippine 6
PT - Portogallo 6
EG - Egitto 5
BG - Bulgaria 4
DZ - Algeria 4
HR - Croazia 4
RS - Serbia 4
SA - Arabia Saudita 4
SN - Senegal 4
UY - Uruguay 4
AZ - Azerbaigian 3
HU - Ungheria 3
LB - Libano 3
PE - Perù 3
SI - Slovenia 3
SK - Slovacchia (Repubblica Slovacca) 3
TN - Tunisia 3
BO - Bolivia 2
CZ - Repubblica Ceca 2
DO - Repubblica Dominicana 2
ET - Etiopia 2
GR - Grecia 2
GT - Guatemala 2
HN - Honduras 2
JM - Giamaica 2
KW - Kuwait 2
LV - Lettonia 2
MD - Moldavia 2
NI - Nicaragua 2
RO - Romania 2
TH - Thailandia 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AF - Afghanistan, Repubblica islamica di 1
AL - Albania 1
AM - Armenia 1
AO - Angola 1
BB - Barbados 1
CD - Congo 1
CG - Congo 1
CR - Costa Rica 1
DM - Dominica 1
GA - Gabon 1
KG - Kirghizistan 1
LI - Liechtenstein 1
LK - Sri Lanka 1
LU - Lussemburgo 1
MK - Macedonia 1
Totale 16.974
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Città #
Southend 986
Singapore 930
Ashburn 734
San Jose 718
Moscow 690
Dallas 637
Jacksonville 603
Chandler 601
Woodbridge 541
Hong Kong 367
Dublin 240
Beijing 231
Ann Arbor 214
Verona 213
Houston 204
The Dalles 198
New York 130
Wilmington 115
Los Angeles 113
Ho Chi Minh City 112
Jinan 111
Lawrence 109
Princeton 109
Hanoi 99
Shenyang 73
Nanjing 69
Columbus 57
Tianjin 57
Santa Clara 53
Hebei 50
Munich 50
Helsinki 49
Buffalo 48
Seoul 47
São Paulo 41
Nanchang 37
Redondo Beach 37
Sindelfingen 36
Ningbo 32
Tokyo 32
Guangzhou 31
Haikou 31
Boardman 30
Council Bluffs 30
Taizhou 30
Hangzhou 29
Seattle 29
Falls Church 28
Taiyuan 27
Warsaw 27
Changsha 25
London 25
Milan 25
Orem 25
Zhengzhou 25
Turku 24
Amsterdam 22
Jakarta 22
Jiaxing 22
Denver 21
Washington 20
Abuja 18
Haiphong 18
Lancaster 18
Chicago 17
Johannesburg 17
Montreal 17
Norwalk 17
Redwood City 17
Tashkent 17
Brussels 16
Chennai 16
Dearborn 16
Nuremberg 16
Phoenix 16
Poplar 16
San Francisco 16
Stockholm 16
Frankfurt am Main 15
Da Nang 14
Rio de Janeiro 14
Brooklyn 13
Fuzhou 13
Lanzhou 13
Toronto 13
Kent 12
Redmond 12
Shanghai 12
Bologna 11
Manchester 11
Atlanta 10
Belo Horizonte 10
Brasília 10
Clearwater 10
Rome 10
Vienna 10
Auburn Hills 9
Guayaquil 9
Lappeenranta 9
Porto Alegre 9
Totale 10.854
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Nome #
Benign acute viral myositis in African migrants: a clinical, serological and pathological study. 240
AZT-induced mitochondrial myopathy 236
Increased protein nitration in mitochondrial diseases: evidence for vessel wall involvement. 222
Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy. 221
Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases 218
The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy. 218
[Myopathy with lipid accumulation and type-II glutaric aciduria] 217
Autophagy, inflammation and innate immunity in inflammatory myopathies. 217
Acute reversible paralysis in critically ill patients 213
A case of multiple sclerosis and necrotizing autoimmune myopathy with anti-SRP antibodies 201
Mitochondrial sensorineural hearing loss: a retrospective study and a description of cochlear implantation in a MELAS patient. 198
A novel emerin gene mutation in Emery Dreifuss muscular dystrophy patient with spontaneous chordae tendinae rupture 197
Endothelial dysfunction and increased oxidative stress in mitochondrial diseases. 196
Poor outcome in a mitochondrial neurogastrointestinal encephalomyopathy patient with a novel TYMP mutation: the need for early diagnosis. 196
An adult-onset myopathy characterized by a double ring appearance of muscle fibers. 194
Chronic graft-versus-host-disease-related polymyositis: a 17-months-old child with a rare and late complication of haematopoietic stem cell transplantation 191
A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia 188
McArdle disease and sporadic inclusion-body myositis. 187
Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency. 186
A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina). 185
Brody Disease: insights into biochemical features of SERCA1 and identification of a novel mutation. 184
A novel in-frame deletion in MYOT causes an early adult onset distal myopathy 183
Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases. 183
Amyloid myopathy: an intriguing diagnosis 183
Calpain 3 deficiency presenting as fiber type disproportion. 173
Endothelial dysfunction in mitochondrial diseases: biological and biochemical evidence of increased oxidative stress and peroxinitrite generation 172
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. 171
Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease. 170
Non-hematologic toxicity of bortezomib in multiple myeloma: the neuromuscular and cardiovascular adverse effects 170
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network 167
Increased expression of the normal cellular isoform of prion protein in inclusion-body myositis, inflammatory myopathies and denervation atrophy 165
Spinal arachnoid cyst as a cause of isolated, progressive, bilateral C5-C6 radiculopathy 165
Chronic ophthalmoparesis in limb girdle muscular dystrophy 1C. 164
Cutis verticis gyrata, mental retardation and Lennox-Gastaut syndrome: a case report 162
The role of muscle biopsy in investigating isolated muscle pain 161
T-cell anti-apoptotic mechanisms in inflammatory myopathies 160
Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy. 160
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 160
Adult-onset mitochondrial movement disorders: a national picture from the Italian Network 158
Human skeletal muscle as a target organ of trichloroethylene toxicity. 157
Current options in the treatment of mitochondrial diseases. 157
Expanding the clinical and genetic spectrum of pathogenic variants in STIM1 153
Central-peripheral sensory axonopathy in a juvenile case of Alpers-Huttenlocher disease 151
Transcription factors c-Jun/activator protein-1 and nuclear factor-kappa B in oxidative stress response in mithocondrial diseases 151
Facioscapulohumeral muscular dystrophy: a multicenter study on hearing function 151
Redefining phenotypes associated with mitochondrial DNA single deletion 150
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes 150
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 150
Critical illness myopathy and neuropathy 149
Multiple acyl-COA dehydrogenase deficiency in elderly carriers 149
SERCA1 and calsequestrin storage myopathy: a new surplus protein myopathy. 148
Expression of Protein Kinase C isoforms and interleukin-1beta in myofibrillar myopathy 148
Acetylcholine receptor-antibody-positive myasthenia gravis presenting with early atrophy and nonfluctuating weakness of proximal limb muscles 146
Sarcoidosis and inclusion body myositis. 145
Metabolic causes of myoglobinuria. 145
New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy. 144
Duplication of dystrophin gene and dissimilar clinical phenotype in the same family 142
Involvement of the mitochondrial compartment in human NCL fibroblasts. 142
Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency. 142
Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta) 142
Myoclonus in mitochondrial disorders 142
Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies 141
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. 140
Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency. 139
Complex glycerol kinase deficiency leads to psychomotor and body-growth failure 136
Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement. 136
Neuropathology of mitochondrial diseases 136
Reversible upper limb muscle weakness with selective loss of thick filaments 133
Human mutated MYOT and CRYAB genes cause a myopathic phenotype in Zebrafish 132
Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates. 132
Genotype-phenotype correlation in Pompe disease, a step forward 128
The role of mitochondria in neurodegenerative diseases. 128
Critically ill patients: immunological evidence of inflammation in muscle biopsy 127
Expression of late myogenic differentiation markers in sarcoplasmic masses of patients with myotonic dystrophy 126
Teaching NeuroImages: neuroradiologic findings in pontine and extrapontine myelinolysis: clue for the pathogenesis? 124
Vaccination recommendations for patients with neuromuscular disease. 123
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]. 122
Short stature and high serum transaminase levels: growth hormone deficiency in a child with Becker muscular dystrophy 122
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. 121
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 120
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing 118
Partial tandem duplication of mtDNA-tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy. 118
Progress in Enzyme Replacement Therapy in Glycogen Storage Disease Type II. 118
Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene. 116
Dilated cardiomyopathy requiring cardiac transplantation as initial manifestation of Xp21 Becker type muscular dystrophy. 116
Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease) 115
Congenital myopathies: clinical phenotypes and new diagnostic tools 114
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population 112
Revisiting mitochondrial ocular myopathies: a study from the Italian Network 112
Dermatomyositis and retroperitoneal germ cell cancer 111
Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy. 111
Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy 111
Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype. 110
Eyelid ptosis from sympathetic nerve dysfunction mistaken as myopathy: a simple test to identify this condition 109
Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa 107
Multineuropathy in a patient with HBV infection, polyarteritis nodosa and celiac disease. 107
Teaching Video NeuroImages: Bent spine syndrome as an early presentation of late-onset Pompe disease 107
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey 104
Polyglucosan body myopathy: a new case 102
Clinical follow-up of a case of complex glycerol kinase deficiency with severe body-growth and psychomotor delay 99
Totale 15.269
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Categoria #
all - tutte 56.652
article - articoli 56.131
book - libri 0
conference - conferenze 521
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 113.304
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021165 0 0 0 0 0 0 0 0 0 0 126 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
2024/20252.391 129 153 76 418 119 84 133 131 329 140 214 465
2025/20267.358 495 521 529 1.075 1.890 486 719 356 672 430 185 0
Totale 17.115