CATALOGO DEI PRODOTTI DELLA RICERCA

TONIN, PAOLA
 Distribuzione geografica
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Continente #
NA - Nord America 6.855
EU - Europa 5.324
AS - Asia 4.372
SA - Sud America 628
AF - Africa 112
OC - Oceania 13
Continente sconosciuto - Info sul continente non disponibili 1
Totale 17.305
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Nazione #
US - Stati Uniti d'America 6.748
RU - Federazione Russa 2.053
SG - Singapore 1.704
CN - Cina 1.341
GB - Regno Unito 1.172
BR - Brasile 511
IT - Italia 409
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
BD - Bangladesh 106
UA - Ucraina 95
NL - Olanda 55
CA - Canada 51
IN - India 51
TR - Turchia 45
AR - Argentina 43
ID - Indonesia 35
JP - Giappone 34
MX - Messico 34
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
CL - Cile 16
EC - Ecuador 16
AU - Australia 12
PY - Paraguay 12
VE - Venezuela 11
IR - Iran 10
CO - Colombia 9
IL - Israele 9
LT - Lituania 9
MY - Malesia 9
AE - Emirati Arabi Uniti 8
BJ - Benin 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
HR - Croazia 5
JM - Giamaica 5
BG - Bulgaria 4
DZ - Algeria 4
PE - Perù 4
RS - Serbia 4
SA - Arabia Saudita 4
SN - Senegal 4
UY - Uruguay 4
AZ - Azerbaigian 3
GT - Guatemala 3
HU - Ungheria 3
LB - Libano 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
HN - Honduras 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
CY - Cipro 1
DM - Dominica 1
GA - Gabon 1
KG - Kirghizistan 1
KY - Cayman, isole 1
LI - Liechtenstein 1
LK - Sri Lanka 1
Totale 17.291
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Città #
Southend 986
Singapore 931
Ashburn 760
San Jose 718
Moscow 690
Dallas 639
Jacksonville 603
Chandler 601
Woodbridge 541
Hong Kong 367
Dublin 240
Beijing 236
Ann Arbor 214
Verona 214
Houston 205
The Dalles 198
Council Bluffs 144
New York 135
Los Angeles 115
Wilmington 115
Ho Chi Minh City 112
Jinan 111
Lawrence 109
Princeton 109
Hanoi 99
Shenyang 73
Nanjing 69
Columbus 57
Santa Clara 57
Tianjin 57
Buffalo 50
Hebei 50
Munich 50
Helsinki 49
Seoul 47
São Paulo 41
Nanchang 37
Redondo Beach 37
Sindelfingen 36
Ningbo 32
Tokyo 32
Guangzhou 31
Haikou 31
Boardman 30
Seattle 30
Taizhou 30
Hangzhou 29
Milan 29
Falls Church 28
Taiyuan 27
Warsaw 27
Changsha 25
London 25
Orem 25
Zhengzhou 25
Turku 24
Amsterdam 22
Denver 22
Jakarta 22
Jiaxing 22
Washington 20
Abuja 18
Haiphong 18
Lancaster 18
Montreal 18
Chicago 17
Johannesburg 17
Norwalk 17
Redwood City 17
Tashkent 17
Toronto 17
Brussels 16
Chennai 16
Dearborn 16
Nuremberg 16
Phoenix 16
Poplar 16
San Francisco 16
Stockholm 16
Brooklyn 15
Frankfurt am Main 15
Da Nang 14
Rio de Janeiro 14
Fuzhou 13
Lanzhou 13
Atlanta 12
Bologna 12
Kent 12
Manchester 12
Redmond 12
Rome 12
Shanghai 12
Belo Horizonte 10
Brasília 10
Clearwater 10
Vienna 10
Auburn Hills 9
Guayaquil 9
Lappeenranta 9
Porto Alegre 9
Totale 11.036
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Nome #
Benign acute viral myositis in African migrants: a clinical, serological and pathological study. 242
AZT-induced mitochondrial myopathy 238
Increased protein nitration in mitochondrial diseases: evidence for vessel wall involvement. 224
Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy. 224
The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy. 221
Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases 220
Autophagy, inflammation and innate immunity in inflammatory myopathies. 219
[Myopathy with lipid accumulation and type-II glutaric aciduria] 218
Acute reversible paralysis in critically ill patients 215
A case of multiple sclerosis and necrotizing autoimmune myopathy with anti-SRP antibodies 205
Poor outcome in a mitochondrial neurogastrointestinal encephalomyopathy patient with a novel TYMP mutation: the need for early diagnosis. 201
A novel emerin gene mutation in Emery Dreifuss muscular dystrophy patient with spontaneous chordae tendinae rupture 201
Mitochondrial sensorineural hearing loss: a retrospective study and a description of cochlear implantation in a MELAS patient. 200
Endothelial dysfunction and increased oxidative stress in mitochondrial diseases. 199
An adult-onset myopathy characterized by a double ring appearance of muscle fibers. 196
Chronic graft-versus-host-disease-related polymyositis: a 17-months-old child with a rare and late complication of haematopoietic stem cell transplantation 193
McArdle disease and sporadic inclusion-body myositis. 190
A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia 189
A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina). 187
Brody Disease: insights into biochemical features of SERCA1 and identification of a novel mutation. 186
Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency. 186
Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases. 186
Amyloid myopathy: an intriguing diagnosis 186
A novel in-frame deletion in MYOT causes an early adult onset distal myopathy 183
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. 179
Calpain 3 deficiency presenting as fiber type disproportion. 175
Endothelial dysfunction in mitochondrial diseases: biological and biochemical evidence of increased oxidative stress and peroxinitrite generation 174
Non-hematologic toxicity of bortezomib in multiple myeloma: the neuromuscular and cardiovascular adverse effects 172
Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease. 171
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network 169
Facioscapulohumeral muscular dystrophy: a multicenter study on hearing function 167
T-cell anti-apoptotic mechanisms in inflammatory myopathies 166
Spinal arachnoid cyst as a cause of isolated, progressive, bilateral C5-C6 radiculopathy 166
Increased expression of the normal cellular isoform of prion protein in inclusion-body myositis, inflammatory myopathies and denervation atrophy 165
Chronic ophthalmoparesis in limb girdle muscular dystrophy 1C. 164
Cutis verticis gyrata, mental retardation and Lennox-Gastaut syndrome: a case report 163
Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy. 162
The role of muscle biopsy in investigating isolated muscle pain 161
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
Human skeletal muscle as a target organ of trichloroethylene toxicity. 159
Adult-onset mitochondrial movement disorders: a national picture from the Italian Network 159
Current options in the treatment of mitochondrial diseases. 157
Multiple acyl-COA dehydrogenase deficiency in elderly carriers 156
Expanding the clinical and genetic spectrum of pathogenic variants in STIM1 156
Central-peripheral sensory axonopathy in a juvenile case of Alpers-Huttenlocher disease 153
Redefining phenotypes associated with mitochondrial DNA single deletion 153
Transcription factors c-Jun/activator protein-1 and nuclear factor-kappa B in oxidative stress response in mithocondrial diseases 152
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes 151
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 151
Critical illness myopathy and neuropathy 150
SERCA1 and calsequestrin storage myopathy: a new surplus protein myopathy. 149
Expression of Protein Kinase C isoforms and interleukin-1beta in myofibrillar myopathy 149
New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy. 149
Sarcoidosis and inclusion body myositis. 147
Metabolic causes of myoglobinuria. 147
Acetylcholine receptor-antibody-positive myasthenia gravis presenting with early atrophy and nonfluctuating weakness of proximal limb muscles 146
Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies 145
Involvement of the mitochondrial compartment in human NCL fibroblasts. 144
Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency. 144
Myoclonus in mitochondrial disorders 143
Duplication of dystrophin gene and dissimilar clinical phenotype in the same family 142
Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency. 142
Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta) 142
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. 141
Neuropathology of mitochondrial diseases 138
Complex glycerol kinase deficiency leads to psychomotor and body-growth failure 137
Reversible upper limb muscle weakness with selective loss of thick filaments 137
Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates. 136
Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement. 136
Human mutated MYOT and CRYAB genes cause a myopathic phenotype in Zebrafish 135
The role of mitochondria in neurodegenerative diseases. 131
Genotype-phenotype correlation in Pompe disease, a step forward 130
Expression of late myogenic differentiation markers in sarcoplasmic masses of patients with myotonic dystrophy 129
Critically ill patients: immunological evidence of inflammation in muscle biopsy 128
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. 127
Teaching NeuroImages: neuroradiologic findings in pontine and extrapontine myelinolysis: clue for the pathogenesis? 126
Vaccination recommendations for patients with neuromuscular disease. 126
Short stature and high serum transaminase levels: growth hormone deficiency in a child with Becker muscular dystrophy 124
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 124
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
Progress in Enzyme Replacement Therapy in Glycogen Storage Disease Type II. 120
Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene. 119
Partial tandem duplication of mtDNA-tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy. 119
Revisiting mitochondrial ocular myopathies: a study from the Italian Network 119
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing 118
Dilated cardiomyopathy requiring cardiac transplantation as initial manifestation of Xp21 Becker type muscular dystrophy. 118
Neurogenic disease with high CK: think muscle 117
Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease) 117
Congenital myopathies: clinical phenotypes and new diagnostic tools 116
Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa 112
Phenotype modulators in myophosphorylase deficiency 112
Eyelid ptosis from sympathetic nerve dysfunction mistaken as myopathy: a simple test to identify this condition 112
Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy. 112
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population 112
Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy 112
Dermatomyositis and retroperitoneal germ cell cancer 111
Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype. 110
Teaching Video NeuroImages: Bent spine syndrome as an early presentation of late-onset Pompe disease 110
Multineuropathy in a patient with HBV infection, polyarteritis nodosa and celiac disease. 109
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey 108
Totale 15.519
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Categoria #
all - tutte 60.100
article - articoli 59.552
book - libri 0
conference - conferenze 548
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 120.200
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2025/20267.618 495 521 529 1.075 1.890 486 719 356 672 430 211 234
2026/202759 59 0 0 0 0 0 0 0 0 0 0 0
Totale 17.434