CATALOGO DEI PRODOTTI DELLA RICERCA

TONIN, PAOLA
 Distribuzione geografica
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Continente #
NA - Nord America 4.646
EU - Europa 3.160
AS - Asia 2.818
SA - Sud America 392
AF - Africa 41
OC - Oceania 11
Continente sconosciuto - Info sul continente non disponibili 1
Totale 11.069
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Nazione #
US - Stati Uniti d'America 4.600
GB - Regno Unito 1.114
CN - Cina 1.097
SG - Singapore 1.064
BR - Brasile 351
HK - Hong Kong 334
SE - Svezia 324
FR - Francia 314
RU - Federazione Russa 280
DE - Germania 252
IE - Irlanda 236
FI - Finlandia 213
IT - Italia 209
KR - Corea 113
UA - Ucraina 92
VN - Vietnam 47
NL - Olanda 38
TR - Turchia 36
CA - Canada 24
BE - Belgio 22
IN - India 19
AR - Argentina 18
ID - Indonesia 16
AT - Austria 15
BD - Bangladesh 15
ES - Italia 12
MX - Messico 12
UZ - Uzbekistan 12
AU - Australia 10
IR - Iran 10
JP - Giappone 10
ZA - Sudafrica 10
PL - Polonia 9
IL - Israele 8
MA - Marocco 8
TG - Togo 7
EC - Ecuador 6
IQ - Iraq 6
BG - Bulgaria 4
CL - Cile 4
KE - Kenya 4
KZ - Kazakistan 4
VE - Venezuela 4
AZ - Azerbaigian 3
CH - Svizzera 3
CO - Colombia 3
DZ - Algeria 3
LB - Libano 3
MY - Malesia 3
PK - Pakistan 3
PT - Portogallo 3
PY - Paraguay 3
AE - Emirati Arabi Uniti 2
CZ - Repubblica Ceca 2
DO - Repubblica Dominicana 2
EG - Egitto 2
GR - Grecia 2
HN - Honduras 2
HR - Croazia 2
HU - Ungheria 2
JO - Giordania 2
LT - Lituania 2
LV - Lettonia 2
NP - Nepal 2
SK - Slovacchia (Repubblica Slovacca) 2
SN - Senegal 2
UY - Uruguay 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AF - Afghanistan, Repubblica islamica di 1
AL - Albania 1
AM - Armenia 1
AO - Angola 1
BO - Bolivia 1
CD - Congo 1
DM - Dominica 1
GT - Guatemala 1
JM - Giamaica 1
KG - Kirghizistan 1
KW - Kuwait 1
LK - Sri Lanka 1
LU - Lussemburgo 1
MD - Moldavia 1
MK - Macedonia 1
NG - Nigeria 1
OM - Oman 1
PA - Panama 1
PH - Filippine 1
RO - Romania 1
SA - Arabia Saudita 1
SI - Slovenia 1
SV - El Salvador 1
TH - Thailandia 1
TN - Tunisia 1
TT - Trinidad e Tobago 1
UG - Uganda 1
WS - Samoa 1
Totale 11.069
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Città #
Southend 986
Jacksonville 603
Chandler 601
Dallas 590
Woodbridge 541
Singapore 513
Hong Kong 334
Dublin 236
Ann Arbor 214
Houston 193
Ashburn 179
Beijing 174
Wilmington 115
Jinan 111
Lawrence 109
Princeton 109
Verona 83
New York 75
Shenyang 73
The Dalles 73
Nanjing 69
Los Angeles 63
Columbus 57
Hebei 50
Tianjin 49
Munich 48
Helsinki 46
Seoul 43
Nanchang 36
Sindelfingen 36
Ningbo 32
Haikou 31
Boardman 30
Guangzhou 30
Taizhou 30
Hangzhou 29
Falls Church 28
Santa Clara 28
Taiyuan 27
Buffalo 26
Redondo Beach 26
Seattle 26
Changsha 24
Zhengzhou 24
Turku 23
Jiaxing 22
Council Bluffs 20
São Paulo 20
Lancaster 18
Milan 18
Washington 18
Norwalk 17
Redwood City 17
Brussels 16
Chicago 16
Dearborn 16
Nuremberg 16
Hanoi 15
Jakarta 15
Fuzhou 13
Lanzhou 13
Moscow 13
San Francisco 13
Kent 12
Redmond 12
Tashkent 12
Amsterdam 11
Belo Horizonte 10
Phoenix 10
Vienna 10
Auburn Hills 9
Clearwater 9
Rio de Janeiro 9
Tokyo 9
Warsaw 9
Bologna 8
Brasília 8
Rome 8
Shanghai 8
Stockholm 8
Toronto 8
Augusta 7
Detroit 7
Ho Chi Minh City 7
Lomé 7
London 7
Riva 7
Ardabil 6
Campo Grande 6
Dong Ket 6
Düsseldorf 6
Fairfield 6
Frankfurt am Main 6
Sorocaba 6
Waanrode 6
Campinas 5
Gangdong-gu 5
Johannesburg 5
Lappeenranta 5
Melbourne 5
Totale 7.404
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Nome #
AZT-induced mitochondrial myopathy 161
Acute reversible paralysis in critically ill patients 152
The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy. 150
Poor outcome in a mitochondrial neurogastrointestinal encephalomyopathy patient with a novel TYMP mutation: the need for early diagnosis. 149
Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy. 148
Increased protein nitration in mitochondrial diseases: evidence for vessel wall involvement. 145
Benign acute viral myositis in African migrants: a clinical, serological and pathological study. 144
[Myopathy with lipid accumulation and type-II glutaric aciduria] 143
Autophagy, inflammation and innate immunity in inflammatory myopathies. 140
Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases 137
Endothelial dysfunction and increased oxidative stress in mitochondrial diseases. 137
Mitochondrial sensorineural hearing loss: a retrospective study and a description of cochlear implantation in a MELAS patient. 135
Cutis verticis gyrata, mental retardation and Lennox-Gastaut syndrome: a case report 131
Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency. 130
A case of multiple sclerosis and necrotizing autoimmune myopathy with anti-SRP antibodies 128
Endothelial dysfunction in mitochondrial diseases: biological and biochemical evidence of increased oxidative stress and peroxinitrite generation 127
Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases. 127
A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina). 124
An adult-onset myopathy characterized by a double ring appearance of muscle fibers. 124
Human skeletal muscle as a target organ of trichloroethylene toxicity. 123
Increased expression of the normal cellular isoform of prion protein in inclusion-body myositis, inflammatory myopathies and denervation atrophy 123
T-cell anti-apoptotic mechanisms in inflammatory myopathies 122
Calpain 3 deficiency presenting as fiber type disproportion. 122
The role of muscle biopsy in investigating isolated muscle pain 122
Amyloid myopathy: an intriguing diagnosis 120
McArdle disease and sporadic inclusion-body myositis. 118
A novel emerin gene mutation in Emery Dreifuss muscular dystrophy patient with spontaneous chordae tendinae rupture 118
Brody Disease: insights into biochemical features of SERCA1 and identification of a novel mutation. 117
Chronic graft-versus-host-disease-related polymyositis: a 17-months-old child with a rare and late complication of haematopoietic stem cell transplantation 116
Metabolic causes of myoglobinuria. 115
Chronic ophthalmoparesis in limb girdle muscular dystrophy 1C. 115
Transcription factors c-Jun/activator protein-1 and nuclear factor-kappa B in oxidative stress response in mithocondrial diseases 114
A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia 114
Expression of Protein Kinase C isoforms and interleukin-1beta in myofibrillar myopathy 112
Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy. 112
Duplication of dystrophin gene and dissimilar clinical phenotype in the same family 111
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. 111
New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy. 111
Critical illness myopathy and neuropathy 110
Reversible upper limb muscle weakness with selective loss of thick filaments 109
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. 108
Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency. 107
Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta) 106
Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease. 106
Central-peripheral sensory axonopathy in a juvenile case of Alpers-Huttenlocher disease 105
Sarcoidosis and inclusion body myositis. 105
SERCA1 and calsequestrin storage myopathy: a new surplus protein myopathy. 104
Spinal arachnoid cyst as a cause of isolated, progressive, bilateral C5-C6 radiculopathy 104
Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency. 102
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network 100
Expanding the clinical and genetic spectrum of pathogenic variants in STIM1 99
Current options in the treatment of mitochondrial diseases. 98
Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates. 97
Redefining phenotypes associated with mitochondrial DNA single deletion 96
Complex glycerol kinase deficiency leads to psychomotor and body-growth failure 95
Expression of late myogenic differentiation markers in sarcoplasmic masses of patients with myotonic dystrophy 95
Critically ill patients: immunological evidence of inflammation in muscle biopsy 94
Involvement of the mitochondrial compartment in human NCL fibroblasts. 94
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]. 94
Multiple acyl-COA dehydrogenase deficiency in elderly carriers 93
Non-hematologic toxicity of bortezomib in multiple myeloma: the neuromuscular and cardiovascular adverse effects 91
The role of mitochondria in neurodegenerative diseases. 91
A novel in-frame deletion in MYOT causes an early adult onset distal myopathy 90
Dermatomyositis and retroperitoneal germ cell cancer 90
Partial tandem duplication of mtDNA-tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy. 90
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. 90
Progress in Enzyme Replacement Therapy in Glycogen Storage Disease Type II. 90
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 90
Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype. 89
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes 88
Dilated cardiomyopathy requiring cardiac transplantation as initial manifestation of Xp21 Becker type muscular dystrophy. 87
Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement. 87
Neuropathology of mitochondrial diseases 87
Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease) 86
Short stature and high serum transaminase levels: growth hormone deficiency in a child with Becker muscular dystrophy 86
Acetylcholine receptor-antibody-positive myasthenia gravis presenting with early atrophy and nonfluctuating weakness of proximal limb muscles 86
Vaccination recommendations for patients with neuromuscular disease. 84
Myoclonus in mitochondrial disorders 84
Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies 84
Polyglucosan body myopathy: a new case 83
Teaching NeuroImages: neuroradiologic findings in pontine and extrapontine myelinolysis: clue for the pathogenesis? 82
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population 82
Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene. 80
Adult-onset mitochondrial movement disorders: a national picture from the Italian Network 80
Genotype-phenotype correlation in Pompe disease, a step forward 76
Teaching Video NeuroImages: Bent spine syndrome as an early presentation of late-onset Pompe disease 76
Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy. 75
Novel mitochondrial tRNA(Leu(CUN)) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype 74
Eyelid ptosis from sympathetic nerve dysfunction mistaken as myopathy: a simple test to identify this condition 73
Multineuropathy in a patient with HBV infection, polyarteritis nodosa and celiac disease. 73
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 73
Congenital myopathies: clinical phenotypes and new diagnostic tools 72
Phenotype modulators in myophosphorylase deficiency 71
Facioscapulohumeral muscular dystrophy: a multicenter study on hearing function 71
Revisiting mitochondrial ocular myopathies: a study from the Italian Network 71
Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia 69
Clinical follow-up of a case of complex glycerol kinase deficiency with severe body-growth and psychomotor delay 69
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 67
Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients 66
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? 63
Totale 10.285
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Categoria #
all - tutte 43.178
article - articoli 42.764
book - libri 0
conference - conferenze 414
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 86.356
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021661 0 0 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
2024/20252.391 129 153 76 418 119 84 133 131 329 140 214 465
2025/20261.436 495 521 420 0 0 0 0 0 0 0 0 0
Totale 11.193