CATALOGO DEI PRODOTTI DELLA RICERCA

TONIN, PAOLA
 Distribuzione geografica
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Continente #
NA - Nord America 5.239
EU - Europa 5.032
AS - Asia 3.645
SA - Sud America 558
AF - Africa 75
OC - Oceania 11
Continente sconosciuto - Info sul continente non disponibili 1
Totale 14.561
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Nazione #
US - Stati Uniti d'America 5.162
RU - Federazione Russa 2.051
SG - Singapore 1.452
CN - Cina 1.264
GB - Regno Unito 1.152
BR - Brasile 471
HK - Hong Kong 340
SE - Svezia 332
FR - Francia 314
DE - Germania 259
IE - Irlanda 236
FI - Finlandia 216
IT - Italia 216
VN - Vietnam 211
KR - Corea 135
UA - Ucraina 92
NL - Olanda 39
TR - Turchia 39
AR - Argentina 38
CA - Canada 34
IN - India 34
ID - Indonesia 31
MX - Messico 28
JP - Giappone 26
PL - Polonia 25
ZA - Sudafrica 25
BD - Bangladesh 22
BE - Belgio 22
ES - Italia 21
AT - Austria 16
MA - Marocco 14
UZ - Uzbekistan 14
IQ - Iraq 12
PY - Paraguay 11
AU - Australia 10
EC - Ecuador 10
IR - Iran 10
CL - Cile 9
PK - Pakistan 9
BJ - Benin 8
IL - Israele 8
LT - Lituania 8
AE - Emirati Arabi Uniti 7
TG - Togo 7
VE - Venezuela 7
CO - Colombia 5
PT - Portogallo 5
BG - Bulgaria 4
KE - Kenya 4
KZ - Kazakistan 4
MY - Malesia 4
UY - Uruguay 4
AZ - Azerbaigian 3
CH - Svizzera 3
DZ - Algeria 3
EG - Egitto 3
JO - Giordania 3
LB - Libano 3
NP - Nepal 3
SN - Senegal 3
TN - Tunisia 3
CZ - Repubblica Ceca 2
DO - Repubblica Dominicana 2
GR - Grecia 2
HN - Honduras 2
HR - Croazia 2
HU - Ungheria 2
JM - Giamaica 2
KW - Kuwait 2
LV - Lettonia 2
MD - Moldavia 2
NI - Nicaragua 2
PE - Perù 2
PH - Filippine 2
RS - Serbia 2
SK - Slovacchia (Repubblica Slovacca) 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
BO - Bolivia 1
CD - Congo 1
CG - Congo 1
DM - Dominica 1
GT - Guatemala 1
KG - Kirghizistan 1
LK - Sri Lanka 1
LU - Lussemburgo 1
MK - Macedonia 1
NG - Nigeria 1
OM - Oman 1
PA - Panama 1
RO - Romania 1
SA - Arabia Saudita 1
SI - Slovenia 1
SV - El Salvador 1
TH - Thailandia 1
TT - Trinidad e Tobago 1
Totale 14.558
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Città #
Southend 986
Singapore 725
Moscow 690
Dallas 628
Jacksonville 603
Chandler 601
Woodbridge 541
Ashburn 369
Hong Kong 340
Dublin 236
Beijing 224
Ann Arbor 214
Houston 201
The Dalles 123
Wilmington 115
Jinan 111
New York 110
Lawrence 109
Princeton 109
Los Angeles 101
Verona 84
Shenyang 73
Nanjing 69
Ho Chi Minh City 64
Columbus 57
Tianjin 57
Hanoi 50
Hebei 50
Munich 49
Seoul 47
Helsinki 46
Buffalo 41
Santa Clara 39
São Paulo 39
Redondo Beach 37
Nanchang 36
Sindelfingen 36
Ningbo 32
Guangzhou 31
Haikou 31
Boardman 30
Taizhou 30
Hangzhou 29
Falls Church 28
Seattle 28
Taiyuan 27
Changsha 25
Tokyo 25
Warsaw 25
Zhengzhou 25
Turku 24
Jakarta 22
Jiaxing 22
London 21
Council Bluffs 20
Milan 19
Lancaster 18
Washington 18
Chicago 17
Denver 17
Norwalk 17
Redwood City 17
Brussels 16
Dearborn 16
Nuremberg 16
Stockholm 16
Orem 15
Phoenix 15
Johannesburg 14
Poplar 14
Tashkent 14
Brooklyn 13
Chennai 13
Fuzhou 13
Lanzhou 13
San Francisco 13
Amsterdam 12
Kent 12
Montreal 12
Redmond 12
Haiphong 11
Rio de Janeiro 11
Toronto 11
Belo Horizonte 10
Brasília 10
Vienna 10
Auburn Hills 9
Clearwater 9
Rome 9
Asunción 8
Atlanta 8
Augusta 8
Bologna 8
Cotonou 8
Falkenstein 8
Shanghai 8
Ankara 7
Da Nang 7
Detroit 7
Frankfurt am Main 7
Totale 9.031
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Nome #
AZT-induced mitochondrial myopathy 205
Increased protein nitration in mitochondrial diseases: evidence for vessel wall involvement. 198
[Myopathy with lipid accumulation and type-II glutaric aciduria] 195
Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy. 195
Acute reversible paralysis in critically ill patients 194
The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy. 192
Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases 191
Benign acute viral myositis in African migrants: a clinical, serological and pathological study. 188
Autophagy, inflammation and innate immunity in inflammatory myopathies. 185
Endothelial dysfunction and increased oxidative stress in mitochondrial diseases. 177
Poor outcome in a mitochondrial neurogastrointestinal encephalomyopathy patient with a novel TYMP mutation: the need for early diagnosis. 177
Mitochondrial sensorineural hearing loss: a retrospective study and a description of cochlear implantation in a MELAS patient. 176
Chronic graft-versus-host-disease-related polymyositis: a 17-months-old child with a rare and late complication of haematopoietic stem cell transplantation 172
An adult-onset myopathy characterized by a double ring appearance of muscle fibers. 170
A case of multiple sclerosis and necrotizing autoimmune myopathy with anti-SRP antibodies 170
McArdle disease and sporadic inclusion-body myositis. 168
Brody Disease: insights into biochemical features of SERCA1 and identification of a novel mutation. 166
Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency. 166
Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases. 163
A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina). 162
Amyloid myopathy: an intriguing diagnosis 162
A novel emerin gene mutation in Emery Dreifuss muscular dystrophy patient with spontaneous chordae tendinae rupture 161
A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia 160
Endothelial dysfunction in mitochondrial diseases: biological and biochemical evidence of increased oxidative stress and peroxinitrite generation 158
Calpain 3 deficiency presenting as fiber type disproportion. 157
A novel in-frame deletion in MYOT causes an early adult onset distal myopathy 155
Spinal arachnoid cyst as a cause of isolated, progressive, bilateral C5-C6 radiculopathy 152
Increased expression of the normal cellular isoform of prion protein in inclusion-body myositis, inflammatory myopathies and denervation atrophy 150
Chronic ophthalmoparesis in limb girdle muscular dystrophy 1C. 147
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. 146
The role of muscle biopsy in investigating isolated muscle pain 146
Cutis verticis gyrata, mental retardation and Lennox-Gastaut syndrome: a case report 145
T-cell anti-apoptotic mechanisms in inflammatory myopathies 144
Human skeletal muscle as a target organ of trichloroethylene toxicity. 143
Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy. 143
Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease. 142
Non-hematologic toxicity of bortezomib in multiple myeloma: the neuromuscular and cardiovascular adverse effects 142
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network 141
Adult-onset mitochondrial movement disorders: a national picture from the Italian Network 139
Critical illness myopathy and neuropathy 138
Expanding the clinical and genetic spectrum of pathogenic variants in STIM1 138
Current options in the treatment of mitochondrial diseases. 137
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 137
Central-peripheral sensory axonopathy in a juvenile case of Alpers-Huttenlocher disease 135
Transcription factors c-Jun/activator protein-1 and nuclear factor-kappa B in oxidative stress response in mithocondrial diseases 135
Expression of Protein Kinase C isoforms and interleukin-1beta in myofibrillar myopathy 133
Sarcoidosis and inclusion body myositis. 132
Multiple acyl-COA dehydrogenase deficiency in elderly carriers 131
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 130
Metabolic causes of myoglobinuria. 128
SERCA1 and calsequestrin storage myopathy: a new surplus protein myopathy. 126
Involvement of the mitochondrial compartment in human NCL fibroblasts. 126
Duplication of dystrophin gene and dissimilar clinical phenotype in the same family 125
New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy. 125
Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency. 125
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. 124
Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies 124
Myoclonus in mitochondrial disorders 123
Acetylcholine receptor-antibody-positive myasthenia gravis presenting with early atrophy and nonfluctuating weakness of proximal limb muscles 123
Reversible upper limb muscle weakness with selective loss of thick filaments 122
Redefining phenotypes associated with mitochondrial DNA single deletion 121
Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency. 120
Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta) 120
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes 120
Neuropathology of mitochondrial diseases 120
Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement. 119
Complex glycerol kinase deficiency leads to psychomotor and body-growth failure 115
The role of mitochondria in neurodegenerative diseases. 115
Teaching NeuroImages: neuroradiologic findings in pontine and extrapontine myelinolysis: clue for the pathogenesis? 114
Critically ill patients: immunological evidence of inflammation in muscle biopsy 113
Expression of late myogenic differentiation markers in sarcoplasmic masses of patients with myotonic dystrophy 111
Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates. 111
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]. 107
Short stature and high serum transaminase levels: growth hormone deficiency in a child with Becker muscular dystrophy 106
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. 105
Human mutated MYOT and CRYAB genes cause a myopathic phenotype in Zebrafish 103
Vaccination recommendations for patients with neuromuscular disease. 103
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 103
Dermatomyositis and retroperitoneal germ cell cancer 102
Progress in Enzyme Replacement Therapy in Glycogen Storage Disease Type II. 102
Partial tandem duplication of mtDNA-tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy. 101
Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype. 100
Dilated cardiomyopathy requiring cardiac transplantation as initial manifestation of Xp21 Becker type muscular dystrophy. 99
Genotype-phenotype correlation in Pompe disease, a step forward 99
Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene. 97
Eyelid ptosis from sympathetic nerve dysfunction mistaken as myopathy: a simple test to identify this condition 96
Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease) 95
Polyglucosan body myopathy: a new case 95
Teaching Video NeuroImages: Bent spine syndrome as an early presentation of late-onset Pompe disease 95
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing 94
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population 93
Facioscapulohumeral muscular dystrophy: a multicenter study on hearing function 92
Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia 90
Phenotype modulators in myophosphorylase deficiency 90
Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy. 90
Congenital myopathies: clinical phenotypes and new diagnostic tools 90
Revisiting mitochondrial ocular myopathies: a study from the Italian Network 89
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey 89
Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy 89
Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy 87
Totale 13.260
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Categoria #
all - tutte 50.926
article - articoli 50.444
book - libri 0
conference - conferenze 482
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 101.852
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021390 0 0 0 0 0 108 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
2024/20252.391 129 153 76 418 119 84 133 131 329 140 214 465
2025/20264.929 495 521 529 1.075 1.890 419 0 0 0 0 0 0
Totale 14.686