CATALOGO DEI PRODOTTI DELLA RICERCA

TONIN, PAOLA
 Distribuzione geografica
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Continente #
NA - Nord America 7.186
EU - Europa 5.342
AS - Asia 4.399
SA - Sud America 637
Continente sconosciuto - Info sul continente non disponibili 131
AF - Africa 112
OC - Oceania 13
Totale 17.820
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Nazione #
US - Stati Uniti d'America 7.063
RU - Federazione Russa 2.053
SG - Singapore 1.712
CN - Cina 1.350
GB - Regno Unito 1.176
BR - Brasile 514
IT - Italia 417
HK - Hong Kong 369
VN - Vietnam 368
SE - Svezia 332
FR - Francia 327
DE - Germania 271
IE - Irlanda 241
FI - Finlandia 221
KR - Corea 178
BD - Bangladesh 108
UA - Ucraina 95
CA - Canada 57
NL - Olanda 55
IN - India 51
TR - Turchia 45
AR - Argentina 43
MX - Messico 37
ID - Indonesia 35
JP - Giappone 35
PL - Polonia 29
ZA - Sudafrica 29
ES - Italia 24
IQ - Iraq 23
BE - Belgio 22
PK - Pakistan 22
NG - Nigeria 21
CL - Cile 18
AT - Austria 17
MA - Marocco 17
UZ - Uzbekistan 17
EC - Ecuador 16
VE - Venezuela 13
AU - Australia 12
PY - Paraguay 12
CO - Colombia 11
IR - Iran 10
MY - Malesia 10
IL - Israele 9
LT - Lituania 9
AE - Emirati Arabi Uniti 8
BJ - Benin 8
KE - Kenya 7
KZ - Kazakistan 7
PH - Filippine 7
PT - Portogallo 7
TG - Togo 7
CH - Svizzera 6
JM - Giamaica 6
JO - Giordania 6
NP - Nepal 6
EG - Egitto 5
HR - Croazia 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
CR - Costa Rica 3
GT - Guatemala 3
HU - Ungheria 3
LB - Libano 3
NI - Nicaragua 3
RO - Romania 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
SV - El Salvador 2
TH - Thailandia 2
TT - Trinidad e Tobago 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AF - Afghanistan, Repubblica islamica di 1
AL - Albania 1
AM - Armenia 1
AO - Angola 1
BA - Bosnia-Erzegovina 1
BB - Barbados 1
CD - Congo 1
CG - Congo 1
CY - Cipro 1
DM - Dominica 1
GA - Gabon 1
KG - Kirghizistan 1
Totale 17.674
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Città #
Southend 986
Singapore 934
Ashburn 785
San Jose 722
Moscow 690
Dallas 644
Jacksonville 603
Chandler 601
Woodbridge 541
Hong Kong 369
Council Bluffs 254
Beijing 240
Dublin 240
Ann Arbor 215
Verona 214
Houston 207
The Dalles 198
New York 139
Los Angeles 118
Wilmington 115
Ho Chi Minh City 112
Jinan 111
Lawrence 109
Princeton 109
Hanoi 99
Shenyang 73
Nanjing 69
Santa Clara 69
Columbus 58
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
Seattle 31
Boardman 30
Milan 30
Taizhou 30
Hangzhou 29
Falls Church 28
Taiyuan 27
Warsaw 27
Changsha 25
London 25
Orem 25
Zhengzhou 25
Turku 24
Denver 23
Washington 23
Amsterdam 22
Jakarta 22
Jiaxing 22
Chicago 19
Abuja 18
Haiphong 18
Lancaster 18
Montreal 18
Phoenix 18
San Francisco 18
Brooklyn 17
Johannesburg 17
Norwalk 17
Redwood City 17
Tashkent 17
Toronto 17
Brussels 16
Chennai 16
Dearborn 16
Frankfurt am Main 16
Nuremberg 16
Poplar 16
Stockholm 16
Atlanta 14
Da Nang 14
Rio de Janeiro 14
Fuzhou 13
Lanzhou 13
Manchester 13
Rome 13
Bologna 12
Kent 12
Redmond 12
Shanghai 12
Detroit 11
Belo Horizonte 10
Brasília 10
Clearwater 10
Santiago 10
Vienna 10
Auburn Hills 9
Guayaquil 9
Totale 11.234
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Nome #
Benign acute viral myositis in African migrants: a clinical, serological and pathological study. 248
AZT-induced mitochondrial myopathy 239
Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy. 229
The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy. 227
Increased protein nitration in mitochondrial diseases: evidence for vessel wall involvement. 226
Autophagy, inflammation and innate immunity in inflammatory myopathies. 222
[Myopathy with lipid accumulation and type-II glutaric aciduria] 221
Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases 221
Acute reversible paralysis in critically ill patients 218
A case of multiple sclerosis and necrotizing autoimmune myopathy with anti-SRP antibodies 209
A novel emerin gene mutation in Emery Dreifuss muscular dystrophy patient with spontaneous chordae tendinae rupture 206
Poor outcome in a mitochondrial neurogastrointestinal encephalomyopathy patient with a novel TYMP mutation: the need for early diagnosis. 204
Mitochondrial sensorineural hearing loss: a retrospective study and a description of cochlear implantation in a MELAS patient. 202
Endothelial dysfunction and increased oxidative stress in mitochondrial diseases. 200
An adult-onset myopathy characterized by a double ring appearance of muscle fibers. 199
Chronic graft-versus-host-disease-related polymyositis: a 17-months-old child with a rare and late complication of haematopoietic stem cell transplantation 198
McArdle disease and sporadic inclusion-body myositis. 194
A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia 192
Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency. 192
A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina). 190
Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases. 189
Amyloid myopathy: an intriguing diagnosis 189
Brody Disease: insights into biochemical features of SERCA1 and identification of a novel mutation. 188
A novel in-frame deletion in MYOT causes an early adult onset distal myopathy 184
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. 181
Endothelial dysfunction in mitochondrial diseases: biological and biochemical evidence of increased oxidative stress and peroxinitrite generation 180
Calpain 3 deficiency presenting as fiber type disproportion. 179
Non-hematologic toxicity of bortezomib in multiple myeloma: the neuromuscular and cardiovascular adverse effects 175
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network 174
Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease. 173
Facioscapulohumeral muscular dystrophy: a multicenter study on hearing function 168
Spinal arachnoid cyst as a cause of isolated, progressive, bilateral C5-C6 radiculopathy 168
T-cell anti-apoptotic mechanisms in inflammatory myopathies 167
Chronic ophthalmoparesis in limb girdle muscular dystrophy 1C. 167
Increased expression of the normal cellular isoform of prion protein in inclusion-body myositis, inflammatory myopathies and denervation atrophy 166
Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy. 166
Cutis verticis gyrata, mental retardation and Lennox-Gastaut syndrome: a case report 165
Human skeletal muscle as a target organ of trichloroethylene toxicity. 163
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 163
The role of muscle biopsy in investigating isolated muscle pain 163
Adult-onset mitochondrial movement disorders: a national picture from the Italian Network 163
Current options in the treatment of mitochondrial diseases. 162
Multiple acyl-COA dehydrogenase deficiency in elderly carriers 160
Expanding the clinical and genetic spectrum of pathogenic variants in STIM1 158
Redefining phenotypes associated with mitochondrial DNA single deletion 157
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 155
Central-peripheral sensory axonopathy in a juvenile case of Alpers-Huttenlocher disease 154
Transcription factors c-Jun/activator protein-1 and nuclear factor-kappa B in oxidative stress response in mithocondrial diseases 153
New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy. 153
Expression of Protein Kinase C isoforms and interleukin-1beta in myofibrillar myopathy 152
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes 152
SERCA1 and calsequestrin storage myopathy: a new surplus protein myopathy. 151
Critical illness myopathy and neuropathy 151
Metabolic causes of myoglobinuria. 151
Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency. 150
Sarcoidosis and inclusion body myositis. 149
Acetylcholine receptor-antibody-positive myasthenia gravis presenting with early atrophy and nonfluctuating weakness of proximal limb muscles 148
Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency. 147
Myoclonus in mitochondrial disorders 147
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. 146
Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta) 146
Duplication of dystrophin gene and dissimilar clinical phenotype in the same family 145
Involvement of the mitochondrial compartment in human NCL fibroblasts. 145
Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies 145
Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates. 142
Neuropathology of mitochondrial diseases 141
Complex glycerol kinase deficiency leads to psychomotor and body-growth failure 140
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. 140
Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement. 139
Reversible upper limb muscle weakness with selective loss of thick filaments 139
Human mutated MYOT and CRYAB genes cause a myopathic phenotype in Zebrafish 137
The role of mitochondria in neurodegenerative diseases. 134
Genotype-phenotype correlation in Pompe disease, a step forward 133
Expression of late myogenic differentiation markers in sarcoplasmic masses of patients with myotonic dystrophy 132
Vaccination recommendations for patients with neuromuscular disease. 130
Critically ill patients: immunological evidence of inflammation in muscle biopsy 129
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]. 129
Teaching NeuroImages: neuroradiologic findings in pontine and extrapontine myelinolysis: clue for the pathogenesis? 128
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 126
Short stature and high serum transaminase levels: growth hormone deficiency in a child with Becker muscular dystrophy 125
Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene. 124
Partial tandem duplication of mtDNA-tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy. 123
Progress in Enzyme Replacement Therapy in Glycogen Storage Disease Type II. 123
Revisiting mitochondrial ocular myopathies: a study from the Italian Network 123
Dilated cardiomyopathy requiring cardiac transplantation as initial manifestation of Xp21 Becker type muscular dystrophy. 121
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing 120
Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease) 120
Neurogenic disease with high CK: think muscle 119
Congenital myopathies: clinical phenotypes and new diagnostic tools 119
Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa 117
Phenotype modulators in myophosphorylase deficiency 116
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population 116
Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy. 115
Eyelid ptosis from sympathetic nerve dysfunction mistaken as myopathy: a simple test to identify this condition 114
Multineuropathy in a patient with HBV infection, polyarteritis nodosa and celiac disease. 113
Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype. 113
Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy 113
Dermatomyositis and retroperitoneal germ cell cancer 112
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey 112
Teaching Video NeuroImages: Bent spine syndrome as an early presentation of late-onset Pompe disease 110
Totale 15.832
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Categoria #
all - tutte 62.930
article - articoli 62.363
book - libri 0
conference - conferenze 567
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 125.860
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022464 0 0 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
2026/2027445 67 191 187 0 0 0 0 0 0 0 0 0
Totale 17.820