المؤلفون: Rispoli M. G., Di Stefano V., Mantuano E., De Angelis M. V.

المساهمون: Rispoli M.G., Di Stefano V., Mantuano E., De Angelis M.V.

مصطلحات موضوعية: genetic screening / counselling, headache (including migraines), neuro genetics, neuroimaging, neurology, Aged, Diagnosis, Differential, Humans, Magnetic Resonance Imaging, Male, Migraine with Aura, Mutation, Missense, Neurologic Examination, Pedigree, Sodium-Potassium-Exchanging ATPase, Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31586957; info:eu-repo/semantics/altIdentifier/wos/WOS:000661453100056; volume:12; issue:10; firstpage:1; lastpage:4; numberofpages:4; journal:BMJ CASE REPORT; http://hdl.handle.net/10447/520454Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85072912755

الإتاحة: https://doi.org/10.1136/bcr-2019-231129Test
http://hdl.handle.net/10447/520454Test

المؤلفون: Mantuano, E, Veneziano, L, Frontali, M., IODICE, CARLA

المساهمون: Mantuano, E, Veneziano, L, Iodice, C, Frontali, M

مصطلحات موضوعية: Allele, Calcium Channel, Point Mutation, Trinucleotide Repeat Expansion, Spinocerebellar Ataxia, Ataxia, Humans, Settore BIO/18 - GENETICA

العلاقة: volume:100; issue:1-4; firstpage:147; lastpage:153; journal:CYTOGENETIC AND GENOME RESEARCH; http://hdl.handle.net/2108/46279Test

الإتاحة: https://doi.org/10.1159/000072849Test
http://hdl.handle.net/2108/46279Test

المؤلفون: Desideri, G, Panichi, Vincenzo, Paoletti, S, Grassi, D, Bigazzi, R, Beati, S, Bernabini, G, Rosati, A, Ferri, C, Taddei, Stefano, Ghiadoni, Lorenzo, Migliori, M, Ferrandello, P, De Pietro, S, Panichi, V, Bianchi, S, Cupisti, Adamasco, Mantuano, E, Donati, G, Grazi, G, Rizza, G. M.

المصدر: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 26(9)

مصطلحات موضوعية: Male, medicine.medical_specialty, medicine.medical_treatment, CD40 Ligand, Risk Assessment, Cohort Studies, Renal Dialysis, Internal medicine, Medicine, Humans, Myocardial infarction, Prospective Studies, Prospective cohort study, Survival rate, Survival analysis, Aged, Transplantation, business.industry, Incidence, Hazard ratio, medicine.disease, Prognosis, Confidence interval, Surgery, Survival Rate, C-Reactive Protein, Nephrology, Cardiovascular Diseases, Cardiology, Kidney Failure, Chronic, Female, Hemodialysis, Morbidity, business, Biomarkers, Cohort study, Follow-Up Studies, Glomerular Filtration Rate

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f57481f0fca313c7c11d7fb7c80b0363Test
https://pubmed.ncbi.nlm.nih.gov/21565946Test

المؤلفون: vincenzo panichi, Bigazzi, R., Paoletti, S., Mantuano, E., Beati, S., Marchetti, V., Bernabini, G., Grazi, G., Giusti, R., Rosati, A., Migliori, M., Betti, G., Pasquariello, A., Panicucci, E., Barsotti, G., Bellasi, A.

المصدر: Scopus-Elsevier

مصطلحات موضوعية: Male, Parathyroid Hormone, Renal Dialysis, Polyamines, Humans, Calcium, Female, Sevelamer, Prospective Studies, Middle Aged, Aged, Phosphates

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::4ae0c8bfa19274f566e8191550403c5aTest
https://pubmed.ncbi.nlm.nih.gov/20349412Test

المؤلفون: Daniela Gallo, Zannoni, G. F., Stefano, I. D., Mosca, M., Ferlini, C., Mantuano, E., Scambia, G.

المصدر: Scopus-Elsevier

مصطلحات موضوعية: Lung Neoplasms, CARCINOMA, MAP Kinase Signaling System, Transplantation, Heterologous, Mice, Nude, Apoptosis, Phytoestrogens, HORMONE REPLACEMENT THERAPY, TUMOR ANGIOGENESIS, BREAST-CANCER, PROSTATE-CANCER, WOMEN, CARCINOMA, ESTROGEN, PHYTOESTROGENS, EXTRACT, RISK, TUMOR ANGIOGENESIS, Mice, Carcinoma, Non-Small-Cell Lung, Cell Line, Tumor, BREAST-CANCER, Animals, Humans, RISK, Plant Extracts, HORMONE REPLACEMENT THERAPY, WOMEN, EXTRACT, PROSTATE-CANCER, ESTROGEN, Ki-67 Antigen, Receptors, Estrogen, Female, Soybeans, Neoplasm Transplantation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::3f52a28d121b453249422c7464db56e0Test
https://pubmed.ncbi.nlm.nih.gov/18567761Test

المؤلفون: Panichi, Vincenzo, Rizza, Gm, Paoletti, S, Bigazzi, R, Aloisi, M, Barsotti, Giuliano, Rindi, P, Donati, G, Antonelli, A, Panicucci, E, Tripepi, G, Tetta, C, Palla, R, COLLABORATORS MANTUANO E, RISCAVID STUDY G. R. O. U. P., Beati, S, Marchetti, V, Consani, C, Filippi, C, Metelli, Mr, Barattini, M, Betti, G, Migliori, M, Ferrandello, P, DE PIETRO, S, Giusti, R, Fontana, G, Saloi, F, Cupisti, Adamasco, Lippi, A, Caprioli, R, Grazi, G, Sibilia, G, Batini, V, Guzzo, D, Paparatto, P, Cominotto, R, Baronti, A, Menicucci, R, Pratesi, G.

المصدر: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 23(7)

مصطلحات موضوعية: Male, medicine.medical_specialty, medicine.medical_treatment, Population, Cohort Studies, Predictive Value of Tests, Renal Dialysis, Internal medicine, medicine, Humans, Renal replacement therapy, Prospective Studies, education, Prospective cohort study, Aged, Proportional Hazards Models, Aged, 80 and over, Inflammation, Transplantation, education.field_of_study, biology, business.industry, Proportional hazards model, Interleukin-6, C-reactive protein, Interleukin-8, Middle Aged, medicine.disease, Prognosis, Surgery, C-Reactive Protein, Italy, Nephrology, Cardiovascular Diseases, Chronic Disease, Multivariate Analysis, biology.protein, Kidney Failure, Chronic, Female, Hemodialysis, business, Biomarkers, Cohort study, Kidney disease, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::367a73b504d455ba45241cb7734ab754Test
https://pubmed.ncbi.nlm.nih.gov/18567694Test

المؤلفون: Tramonti, G, Ferdeghini, Marco, Annichiarico, C, Donadio, C, Norpoth, M, Mantuano, E, Bianchi, C.

المصدر: Journal of nephrology. 16(5)

مصطلحات موضوعية: Adult, Male, Adolescent, tumor-associated trypsin inhibitor, Middle Aged, Kidney, tumor-associated trypsin inhibitor, beta 2-microglobulin, creatinine, glomerular filtration rate, low molecular weight proteins, Rats, Iodine Radioisotopes, Rats, Sprague-Dawley, low molecular weight proteins, Trypsin Inhibitor, Kazal Pancreatic, Creatinine, Animals, Humans, Technetium Tc 99m Pentetate, Female, Renal Insufficiency, Radiopharmaceuticals, beta 2-Microglobulin, Biomarkers, Aged, Glomerular Filtration Rate

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::dfbc619b7ce2d2b97eabccd9feb77818Test
https://pubmed.ncbi.nlm.nih.gov/14733412Test

المؤلفون: Maria Vittoria De Angelis, Vincenzo Di Stefano, Marianna Gabriella Rispoli, Elide Mantuano

المساهمون: Rispoli M.G., Di Stefano V., Mantuano E., De Angelis M.V.

المصدر: BMJ case reports 12 (2019). doi:10.1136/bcr-2019-231129.
info:cnr-pdr/source/autori:Rispoli M.G; Di Stefano V.; Mantuano E.; De Angelis M.V./titolo:Novel missense mutation in the ATP1A2 gene associated with atypical sporapedic hemiplegic migraine/doi:10.1136%2Fbcr-2019-231129./rivista:BMJ case reports/anno:2019/pagina_da:/pagina_a:/intervallo_pagine:/volume:12
BMJ Case Rep

مصطلحات موضوعية: Male, Weakness, Pediatrics, medicine.medical_specialty, Ataxia, Neurology, Migraine with Aura, Mutation, Missense, Neuroimaging, neuro genetics, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Rare Disease, ATP1A2, medicine, Humans, Missense mutation, genetic screening / counselling, 030212 general & internal medicine, Migraine, Aged, Neurologic Examination, Genetic counselling, Cerebellar ataxia, business.industry, Headache, General Medicine, Magnetic Resonance Imaging, Migraine with aura, Pedigree, Hemiparesis, Settore MED/26 - Neurologia, Sodium-Potassium-Exchanging ATPase, medicine.symptom, business, headache (including migraines), 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39c559960227e4156cddbc5830b94a6eTest
https://casereports.bmj.com/content/12/10/e231129Test

المؤلفون: Liana Veneziano, Annalisa Pastore, Leonore Novak, Angelo Toto, Elide Mantuano, Stefano Gianni, Maria Petrosino, Valerio Consalvi, Alessandra Pasquo, Velia Minicozzi, Roberta Chiaraluce, Emidio Capriotti, Rita Puglisi

المساهمون: Petrosino, M., Pasquo, A., Novak, L., Toto, A., Gianni, S., Mantuano, E., Veneziano, L., Minicozzi, V., Pastore, A., Puglisi, R., Capriotti, E., Chiaraluce, R., Consalvi, V., Petrosino, Maria, Pasquo, Alessandra, Novak, Leonore, Toto, Angelo, Gianni, Stefano, Mantuano, Elide, Veneziano, Liana, Minicozzi, Velia, Pastore, Annalisa, Puglisi, Rita, Capriotti, Emidio, Chiaraluce, Roberta, Consalvi, Valerio

المصدر: Human mutation 40 (2019): 1400–1413. doi:10.1002/humu.23789
info:cnr-pdr/source/autori:Petrosino M.; Pasquo A.; Novak L.; Toto A.; Gianni S.; Mantuano E.; Veneziano L.; Minicozzi V.; Pastore A.; Puglisi R.; Capriotti E.; Chiaraluce R.; Consalvi V./titolo:Characterization of human frataxin missense variants in cancer tissues/doi:10.1002%2Fhumu.23789/rivista:Human mutation/anno:2019/pagina_da:1400/pagina_a:1413/intervallo_pagine:1400–1413/volume:40
Hum Mutat
Petrosino, M, Pasquo, A, Novak, L, Toto, A, Gianni, S, Mantuano, E, Veneziano, L, Minicozzi, V, Pastore, A, Puglisi, R, Capriotti, E, Chiaraluce, R & Consalvi, V 2019, ' Characterization of human frataxin missense variants in cancer tissues ', Human Mutation, vol. 40, no. 9, pp. 1400-1413 . https://doi.org/10.1002/humu.23789Test

مصطلحات موضوعية: Models, Molecular, Ataxia, Somatic cell, Protein Conformation, Mutation, Missense, Mitochondrion, Molecular Dynamics Simulation, medicine.disease_cause, Article, 03 medical and health sciences, single aminoacid substitution, Iron-Binding Proteins, Neoplasms, protein folding, Databases, Genetic, Genetics, medicine, Missense mutation, Humans, Genetics (clinical), 030304 developmental biology, chemistry.chemical_classification, 0303 health sciences, biology, cancer tissues, human frataxin, missense variants, protein stability, protein variants, somatic mutations, 030305 genetics & heredity, single amino acid substitution, missense variant, Settore FIS/07 - Fisica Applicata(Beni Culturali, Ambientali, Biol.e Medicin), Cell biology, Amino acid, chemistry, Amino Acid Substitution, Frataxin, biology.protein, Mutagenesis, Site-Directed, Protein folding, protein variant, medicine.symptom, Carcinogenesis, cancer tissue

وصف الملف: application/pdf; ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9dc07019101225f26dcf325c3c051644Test