CNR Institutional Research Information System

SABATELLI, PATRIZIA ANNA
 Distribuzione geografica
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Continente #
AS - Asia 1.903
NA - Nord America 1.216
SA - Sud America 428
EU - Europa 416
AF - Africa 38
OC - Oceania 1
Totale 4.002
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Nazione #
US - Stati Uniti d'America 1.164
SG - Singapore 904
BR - Brasile 334
CN - Cina 333
VN - Vietnam 226
HK - Hong Kong 225
FR - Francia 127
IT - Italia 102
DE - Germania 44
KR - Corea 44
IN - India 36
AR - Argentina 34
BD - Bangladesh 34
GB - Regno Unito 33
NL - Olanda 31
FI - Finlandia 23
CA - Canada 22
JP - Giappone 21
EC - Ecuador 19
ID - Indonesia 18
MX - Messico 16
CO - Colombia 15
ZA - Sudafrica 15
IQ - Iraq 14
CL - Cile 12
RU - Federazione Russa 9
PL - Polonia 7
SA - Arabia Saudita 7
IL - Israele 6
SE - Svezia 6
AT - Austria 5
DZ - Algeria 4
ES - Italia 4
JO - Giordania 4
KE - Kenya 4
NP - Nepal 4
RO - Romania 4
TR - Turchia 4
UA - Ucraina 4
VE - Venezuela 4
AE - Emirati Arabi Uniti 3
CZ - Repubblica Ceca 3
EG - Egitto 3
MA - Marocco 3
PA - Panama 3
PK - Pakistan 3
PY - Paraguay 3
TN - Tunisia 3
TW - Taiwan 3
BO - Bolivia 2
BY - Bielorussia 2
CR - Costa Rica 2
DO - Repubblica Dominicana 2
GE - Georgia 2
GY - Guiana 2
KZ - Kazakistan 2
PE - Perù 2
PT - Portogallo 2
RS - Serbia 2
SK - Slovacchia (Repubblica Slovacca) 2
TH - Thailandia 2
UZ - Uzbekistan 2
AO - Angola 1
AU - Australia 1
BE - Belgio 1
BH - Bahrain 1
BJ - Benin 1
CI - Costa d'Avorio 1
DK - Danimarca 1
ET - Etiopia 1
GA - Gabon 1
GT - Guatemala 1
HN - Honduras 1
HR - Croazia 1
IE - Irlanda 1
JM - Giamaica 1
KG - Kirghizistan 1
LV - Lettonia 1
MT - Malta 1
MY - Malesia 1
NG - Nigeria 1
NI - Nicaragua 1
PH - Filippine 1
PR - Porto Rico 1
PS - Palestinian Territory 1
QA - Qatar 1
SV - El Salvador 1
TT - Trinidad e Tobago 1
UY - Uruguay 1
Totale 4.002
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Città #
Santa Clara 638
Singapore 508
Hong Kong 223
Hefei 111
Lauterbourg 97
San Jose 95
Ashburn 87
Ho Chi Minh City 76
Beijing 59
Hanoi 59
Seoul 43
Dallas 42
São Paulo 33
Los Angeles 31
Pavia 19
Helsinki 18
Frankfurt am Main 16
Da Nang 15
New York 14
Rio de Janeiro 13
Tokyo 13
Haiphong 12
Buffalo 9
Chennai 8
Düsseldorf 8
Guayaquil 8
Orem 8
Belo Horizonte 7
Johannesburg 7
Minamishinagawa 7
Montreal 7
Phoenix 7
Baghdad 6
Biên Hòa 6
Brooklyn 6
Campinas 6
London 6
Milan 6
São Bernardo do Campo 6
Atlanta 5
Bexley 5
Chicago 5
Nuremberg 5
Quito 5
Riyadh 5
Rome 5
Sorocaba 5
Thái Bình 5
Vũng Tàu 5
Amman 4
Amsterdam 4
Bengaluru 4
Brasília 4
Bắc Giang 4
Falkenstein 4
Fortaleza 4
Guangzhou 4
Guarulhos 4
La Paz 4
Lappeenranta 4
Medellín 4
Pelotas 4
Poplar 4
Recife 4
Stockholm 4
Ahmedabad 3
Bologna 3
Boston 3
Bragança Paulista 3
Council Bluffs 3
Curitiba 3
Denver 3
Ha Long 3
Hyderabad 3
Lấp Vò 3
Manaus 3
Miami 3
Nairobi 3
Naples 3
Nova Iguaçu 3
Porto Alegre 3
Quận Bình Thạnh 3
Shanghai 3
Sumaré 3
São José dos Campos 3
Warsaw 3
Algiers 2
Ancud 2
Anápolis 2
Aracaju 2
Assago 2
Asunción 2
Basra 2
Biella 2
Boardman 2
Bogotá 2
Booneville 2
Bucharest 2
Buenos Aires 2
Bắc Ninh 2
Totale 2.545
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Nome #
Collagen VI Deficiency Impairs Tendon Fibroblasts Mechanoresponse in Ullrich Congenital Muscular Dystrophy 122
Emerin increase in regenerating muscle fibers, 83
Interleukin-6 neutralization ameliorates symptoms in prematurely aged mice 76
Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibition. 68
Lamin A-dependent heterochromatin dynamics in control and progeria syndrome fibroblasts, 67
Elevated TGF beta 2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes 65
Collagen VI ablation in zebrafish causes neuromuscular defects during developmental and adult stages 63
Alisporivir rescues defective mitochondrial respiration in Duchenne muscular dystrophy 61
Collagen VI is required for the structural and functional integrity of the neuromuscular junction 60
Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases 58
Desmin and Plectin Recruitment to the Nucleus and Nuclei Orientation Are Lost in Emery-Dreifuss Muscular Dystrophy Myoblasts Subjected to Mechanical Stimulation 58
Early Morphological Changes of the Rectus Femoris Muscle and Deep Fascia in Ullrich Congenital Muscular Dystrophy 57
Ambra1 deficiency impairs mitophagy in skeletal muscle 54
Effect on collagen VI extra-cellular assembly of COL6A1 and COL6A2 C-terminal mutationsi in Ullrich congenital muscular dystrophy. 53
Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations. 52
Protein aggregates and autophagy involvement in a family with a mutation in Z-band alternatively spliced PDZ-motif protein. 50
Collagen VI-NG2 axis in human tendon fibroblasts under conditions mimicking injury response 48
Collagen VI myopathies: from the animal model to the clinical trial 48
3D ECM-rich environment sustains the identity of naive human iPSCs 48
Autosomal recessive Bethlem myopathy. 45
A novel murine model for arrhythmogenic cardiomyopathy points to a pathogenic role of Wnt signalling and miRNA dysregulation 44
Altered lamin A/C phosphorylation in Emery-Dreifuss muscle, 43
Treatment with a triazole inhibitor of the mitochondrial permeability transition pore fully corrects the pathology of sapje zebrafish lacking dystrophin 43
Serum- and glucocorticoid- inducible kinase 2, SGK2, is a novel autophagy regulator and modulates platinum drugs response in cancer cells 42
Multimerin-2 maintains vascular stability and permeability 41
Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency, 40
Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy. 39
Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors. 38
Collagen VI in the Musculoskeletal System 38
114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE). 38
New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients 38
NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models 38
Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy, 38
Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype 37
Sustained oral spermidine supplementation rescues functional and structural defects in COL6-deficient myopathic mice 37
Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice 37
Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy 35
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family 35
Laminopathies: a chromatin affair, 35
Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant 35
Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by Collagen VI myopathies. 34
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. 34
Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy, 34
Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the alpha3(VI) N10-N7 domains, 33
Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2, 33
Effect of mechanical strain on the collagen VI pericellular matrix in anterior cruciate ligament fibroblasts 33
Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation 33
Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy 33
EMILIN-1 deficiency induces elastogenesis and vascular cell defects, 32
Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy, 32
Laminopathies: involvement of structural nuclear proteins in the pathogenesis of an increasing number of human diseases, 32
Detection of mitochondrial defects in collagen VI deficient muscle cultures from UCMD patients and Col6a1 knockout mice: an ultrastructural study, 31
Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial 31
EMILIN1/alpha9beta1 Integrin Interaction Is Crucial in Lymphatic Valve Formation and Maintenance. 31
Expression of collagen VI alpha5 and alpha6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis. 31
Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies. 31
Monoamine oxidase inhibition prevents mitochondrial dysfunction and apoptosis in myoblasts from patients with collagen VI myopathies 31
Effect on collagen VI extra-cellular assembly of COL6A1 and COL6A2 C-terminal mutationsi in Ullrich congenital muscular dystrophy 30
The myotonic dystrophy type 2 (DM2) gene product zinc finger protein 9 (ZNF9) is associated with sarcomeres and normally localized in DM2 patients' muscles. 30
Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy 30
Nuclear envelope proteins and chromatin arrangem ent: a pathogenic mechanism for laminopathies, 30
Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies. 30
Properties of Ca(2+) transport in mitochondria of Drosophila melanogaster 30
Emilin1 deficiency causes structural and functional defects of lymphatic vasculature 29
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human. 29
PCNA staining pattern is altered in Emery-Dreifuss fibroblasts. 29
Differential and restricted expression of novel collagen VI chains in mouse. 29
The epg5 knockout zebrafish line: a model to study Vici syndrome 29
Ultrastructural changes in muscle cells of patients with collagen VI-related myopathies. 29
Effects on Collagen VI mrna Stability and Microfibrillar Assembly of Three COL6A2 Mutations in Two Families with Ullrich Congenital Muscular Dystrophy 29
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse. 28
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy. 28
Defective collagen VI alpha 6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies 28
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-Terminal domain: a case report 28
Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interaction with emerin and implications for gene transcription. 28
Molecular analysis of COL6 genes in patients with Betlem myopaty and Ullrich congenital muscular dystrofy. 27
Chromatin remodelling is involved in the pathogenesis of the mandibulocral dyspasia (MADA), 27
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome, 27
Heterochromatin dynamics in hutchinson-gilford progeria sindrome fibroblasts, 27
In vivo biodistribution of non-viral systems for oligoribonucleotides delivery. 26
Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation 26
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype. 26
Autosomal recessive myosclerosis myopathy is a collagen VI disorder. 26
Immunocytochemistry of nuclear domains and Emery-Dreifuss muscular dystrophy pathophysiology 25
Novel collagen VI alpha chains distribution in murine skeletal muscle: possible implications for neuromuscular disorders 25
The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1(-/-) myopathic mice. 25
Macrophages: A minimally invasive tool for monitoring collagen VI myopathies. 25
Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency. 25
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI 25
Melanocytes-A novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy 25
Preclinical PK and PD Studies on 2'-O-Methyl-phosphorothioate RNA Antisense Oligonucleotides in the mdx Mouse Model. 25
Improving clinical trial design for Duchenne muscular dystrophy 25
A comprehensive molecular approach in collagen type VI related myopathies based on genomic sequencing, transcriptional analysis and array CGH 24
Aggresome-autophagy involvement in a sarcopenic patient with rigid spine syndrome and a p.C150R mutation in FHL1 gene 24
Expression of the Collagen VI alpha5 and alpha6 Chains in Normal Human Skin and in Skin of Patients with Collagen VI-Related Myopathies 24
Autosomal recessive myosclerosis myopaty is a collagen type VI disorder. 24
Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration 24
Collagen type VI deficiency disrupts basal lamina-extracellular matrix binding in Ullrich congenital muscular dysystrophy and COL6A1 null mutant skeletal muscle 24
Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem. 23
Cultured muscle cells display defects of mitochondrial myopathy ameliorated by anti-oxidants. 23
Totale 3.706
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Categoria #
all - tutte 14.431
article - articoli 12.678
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 27.109
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/20249 0 0 0 0 0 0 0 0 6 0 1 2
2024/20251.785 0 6 110 71 530 166 23 74 41 63 368 333
2025/20262.253 76 243 239 367 409 89 335 142 120 71 90 72
Totale 4.047