المؤلفون: Renzo Manara, Sara Ponticorvo, Marcella Contieri, Antonietta Canna, Andrea Gerardo Russo, Maria Cristina Fedele, Maria Chiara Rocco, Adriana Borriello, Silvia Valeggia, Maria Pennisi, Marianna De Angelis, Domenico Roberti, Mario Cirillo, Francesco di Salle, Silverio Perrotta, Fabrizio Esposito, Immacolata Tartaglione

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-7 (2024)

مصطلحات موضوعية: Brain, Perfusion, Thalassemia, Hemoglobin, Transfusions, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/70ef5666e1fe452fbd48f7b83fb6741b

المؤلفون: Nelida Inés Noguera, Daniela Tavian, Corrado Angelini, Francesca Cortese, Massimiliano Filosto, Matteo Garibaldi, Sara Missaglia, Ariela Smigliani, Alessandra Zaza, Elena Maria Pennisi

المساهمون: Inés Noguera, Nelida, Tavian, Daniela, Angelini, Corrado, Cortese, Francesca, Filosto, Massimiliano, Garibaldi, Matteo, Missaglia, Sara, Smigliani, Ariela, Zaza, Alessandra, Maria Pennisi, Elena

مصطلحات موضوعية: triheptanoin, neutral lipid storage disease type M, NLSD, ATGL, lipid storage myopathy, mitochondrial respiration, glycolysis, anaplerosis, cultured fibroblast, Settore BIO/10 - BIOCHIMICA

Relation: info:eu-repo/semantics/altIdentifier/pmid/36979387; issue:13; firstpage:1; lastpage:12; numberofpages:12; issueyear:2023; journal:BIOMOLECULES; https://hdl.handle.net/10807/232168

الاتاحة: https://hdl.handle.net/10807/232168
https://doi.org/10.3390/biom13030452

المؤلفون: Claudia Dosi, Anna Rubegni, Jacopo Baldacci, Daniele Galatolo, Stefano Doccini, Guja Astrea, Angela Berardinelli, Claudio Bruno, Giorgia Bruno, Giacomo Pietro Comi, Maria Alice Donati, Maria Teresa Dotti, Massimiliano Filosto, Chiara Fiorillo, Fabio Giannini, Gian Luigi Gigli, Marina Grandis, Diego Lopergolo, Francesca Magri, Maria Antonietta Maioli, Alessandro Malandrini, Roberto Massa, Sabrina Matà, Federico Melani, Sonia Messina, Andrea Mignarri, Maurizio Moggio, Elena Maria Pennisi, Elena Pegoraro, Giulia Ricci, Michele Sacchini, Angelo Schenone, Simone Sampaolo, Monica Sciacco, Gabriele Siciliano, Giorgio Tasca, Paola Tonin, Rossella Tupler, Mariarosaria Valente, Nila Volpi, Denise Cassandrini, Filippo Maria Santorelli

المصدر: Genes; Volume 14; Issue 2; Pages: 298

مصطلحات موضوعية: RYR1 -related myopathies, unsupervised cluster analysis, NGS, genotype–phenotype correlation

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14020298

الاتاحة: https://doi.org/10.3390/genes14020298

المؤلفون: Marco Luigetti, Giovanni Antonini, Andrea Di Paolantonio, Luca Gentile, Marina Grandis, Luca Leonardi, Alessandro Lozza, Fiore Manganelli, Anna Mazzeo, Roberta Mussinelli, Filomena My, Laura Obici, Elena Maria Pennisi, Marina Romozzi, Massimo Russo, Mario Sabatelli, Alessandro Salvalaggio, Matteo Tagliapietra, Stefano Tozza

المساهمون: Luigetti, Marco, Antonini, Giovanni, Di Paolantonio, Andrea, Gentile, Luca, Grandis, Marina, Leonardi, Luca, Lozza, Alessandro, Manganelli, Fiore, Mazzeo, Anna, Mussinelli, Roberta, My, Filomena, Obici, Laura, Maria Pennisi, Elena, Romozzi, Marina, Russo, Massimo, Sabatelli, Mario, Salvalaggio, Alessandro, Tagliapietra, Matteo, Tozza, Stefano

مصطلحات موضوعية: amyloidosi, ATTRv, inotersen, real life

Relation: info:eu-repo/semantics/altIdentifier/pmid/35289020; info:eu-repo/semantics/altIdentifier/wos/WOS:000773629000001; firstpage:1; lastpage:10; numberofpages:10; journal:EUROPEAN JOURNAL OF NEUROLOGY; http://hdl.handle.net/11573/1625153; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85127295216

الاتاحة: http://hdl.handle.net/11573/1625153
https://doi.org/10.1111/ene.15325

المؤلفون: Nicola Michielli, Alessandro Caputo, Manuela Scotto, Alessandro Mogetta, Orazio Antonino Maria Pennisi, Filippo Molinari, Davide Balmativola, Martino Bosco, Alessandro Gambella, Jasna Metovic, Daniele Tota, Laura Carpenito, Paolo Gasparri, Massimo Salvi

المصدر: Journal of Pathology Informatics, Vol 13, Iss , Pp 100145- (2022)

مصطلحات موضوعية: Stain normalization, Image quality, Qualitative score, Digital pathology, H&E staining, Computer applications to medicine. Medical informatics, R858-859.7, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2153353922007398; https://doaj.org/toc/2153-3539

URL الوصول: https://doaj.org/article/e1b321e3ae25476eb77b1e6b127affe8

المؤلفون: Stefania Stella, Silvia Vitale, Fabio Stagno, Michele Massimino, Adriana Puma, Cristina Tomarchio, Maria Pennisi, Elena Tirrò, Chiara Romano, Francesco Di Raimondo, Emma Cacciola, Rossella Cacciola, Livia Manzella

المصدر: Diagnostics ; Volume 12 ; Issue 5 ; Pages: 1051

مصطلحات موضوعية: chronic myeloid leukemia, cell count, Q-PCR, BCR-ABL1/ABL1

وصف الملف: application/pdf

Relation: Pathology and Molecular Diagnostics; https://dx.doi.org/10.3390/diagnostics12051051

الاتاحة: https://doi.org/10.3390/diagnostics12051051

المؤلفون: Alessandra Colombelli, Shiva Loccisano, Andrea Panelli, Orazio Antonino Maria Pennisi, Francesco Serraino

المصدر: Administrative Sciences; Volume 12; Issue 1; Pages: 10

مصطلحات موضوعية: entrepreneurship education, EE, Challenge-Based learning, student entrepreneurship, entrepreneurial mindset, entrepreneurial intention, entrepreneurial skills

وصف الملف: application/pdf

Relation: International Entrepreneurship; https://dx.doi.org/10.3390/admsci12010010

الاتاحة: https://doi.org/10.3390/admsci12010010

المؤلفون: Marco Luigetti, Valeria Guglielmino, Giovanni Antonini, Carlo Casali, Marco Ceccanti, Maria Grazia Chiappini, Laura De Giglio, Vincenzo Di Lazzaro, Antonio Di Muzio, Mariangela Goglia, Maurizio Inghilleri, Luca Leonardi, Roberto Massa, Elena Maria Pennisi, Antonio Petrucci, Emanuela Proietti, Marianna Rispoli, Mario Sabatelli, Marco Di Girolamo

المصدر: Genes; Volume 12; Issue 6; Pages: 829

مصطلحات موضوعية: ATTRv, prevalence, amyloid

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes12060829

الاتاحة: https://doi.org/10.3390/genes12060829

المؤلفون: Matteo Garibaldi, Fabiana Fattori, Carlo Augusto Bortolotti, Guy Brochier, Clemence Labasse, Margherita Verardo, Emilia Servian-Morilla, Lara Gibellini, Marcello Pinti, Giulia Di Rocco, Salvatore Raffa, Elena Maria Pennisi, Enrico Silvio Bertini, Carmen Paradas, Norma Beatriz Romero, Giovanni Antonini

المصدر: Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-7 (2018)

مصطلحات موضوعية: Congenital myopathies, KBTBD13, Core-rod myopathy, Nemaline myopathy, Central core myopathy, LGMD, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40478-018-0595-0; https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/7a029707b69c4478a8e7c6f3ea6645c9

المؤلفون: Elena Maria Pennisi, Marcello Arca, Enrico Bertini, Claudio Bruno, Denise Cassandrini, Adele D’amico, Matteo Garibaldi, Francesca Gragnani, Lorenzo Maggi, Roberto Massa, Sara Missaglia, Lucia Morandi, Olimpia Musumeci, Elena Pegoraro, Emanuele Rastelli, Filippo Maria Santorelli, Elisabetta Tasca, Daniela Tavian, Antonio Toscano, Corrado Angelini, The Italian NLSD Group

المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-10 (2017)

مصطلحات موضوعية: NLSD, PNPLA2, CGI58, Myopathy, Lipid metabolism, Natural history, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-017-0646-9; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/98154eee26d648eab05a3ab6d53ffe85

المؤلفون: Domenico Paludi, Giovanni Di Guardo, Alberto Olivastri, Antonio Zizzi, Corrado Rubini, Luca Maria Pennisi, Marina Baffoni, Anna Rita Festino, Adriana Ianieri, Alberto Vergara

المصدر: Italian Journal of Food Safety, Vol 8, Iss 2 (2019)

مصطلحات موضوعية: Raw ham, ripening, morphological investigations, histology, histochemistry, light microscopy, Food processing and manufacture, TP368-456

وصف الملف: electronic resource

Relation: https://www.pagepressjournals.org/index.php/ijfs/article/view/8166; https://doaj.org/toc/2239-7132

URL الوصول: https://doaj.org/article/de402e050822438e93b1486c7f80cd82

المؤلفون: Inés Noguera, Nelida, Tavian, Daniela, Angelini, Corrado, Cortese, Francesca, Filosto, Massimiliano, Garibaldi, Matteo, Missaglia, Sara, Smigliani, Ariela, Zaza, Alessandra, Maria Pennisi, Elena, Daniela Tavian (ORCID:0000-0003-3333-0068), Sara Missaglia (ORCID:0000-0001-6551-6698)

مصطلحات الفهرس: triheptanoin, neutral lipid storage disease type M, NLSD, ATGL, lipid storage myopathy, mitochondrial respiration, glycolysis, anaplerosis, cultured fibroblast, Settore BIO/10 - BIOCHIMICA, info:eu-repo/semantics/article

URL: https://hdl.handle.net/10807/232168
info:eu-repo/semantics/altIdentifier/pmid/36979387
issue:13
firstpage:1
lastpage:12
numberofpages:12
issueyear:2023
journal:BIOMOLECULES

المؤلفون: Luca Maria Pennisi, Ambra Rita Di Rosa, Luca Nalbone, Filippo Giarratana

مصطلحات موضوعية: Lophius piscatorius · Quality index method · Sensory analysis · Spoilage bacteria, Food Science

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a35f7fb4f924c2f1e96f5394b5de8a6
https://hdl.handle.net/11575/125278

المؤلفون: Elena Maria Pennisi, Matteo Garibaldi, Giovanni Antonini

المصدر: Journal of Clinical Medicine; Volume 7; Issue 12; Pages: 472

مصطلحات موضوعية: lipid myopathies, lipid storage disease, muscle lipidosis, lipid metabolism disorders, beta-oxidation defects, FAO defect, metabolic myopathies

وصف الملف: application/pdf

Relation: Endocrinology & Metabolism; https://dx.doi.org/10.3390/jcm7120472

الاتاحة: https://doi.org/10.3390/jcm7120472

المؤلفون: Livia Manzella, Stefania Stella, Maria Pennisi, Elena Tirrò, Michele Massimino, Chiara Romano, Adriana Puma, Martina Tavarelli, Paolo Vigneri

المصدر: International Journal of Molecular Sciences; Volume 18; Issue 6; Pages: 1325

مصطلحات موضوعية: thyroid cancer, p53, p63, p73, genetic alterations, p53 inhibition mechanisms, target therapies

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms18061325

الاتاحة: https://doi.org/10.3390/ijms18061325

المؤلفون: Enrico Bertini, Elisabetta Bucci, Giovanni Antonini, Luca Leonardi, Marco Salvetti, Bas Uijterwijk, Antonella Stoppacciaro, Martijn Zierikzee, Salvatore Raffa, Fiammetta Vanoli, Tommaso Tartaglione, Laura Fionda, Elena Maria Pennisi, Gioia Merlonghi, Fabiana Fattori, Coen A.C. Ottenheijm, Matteo Garibaldi, Stefania Morino, Andrea Micaloni

المساهمون: Physiology, ACS - Pulmonary hypertension & thrombosis

المصدر: Garibaldi, M, Fattori, F, Pennisi, E M, Merlonghi, G, Fionda, L, Vanoli, F, Leonardi, L, Bucci, E, Morino, S, Micaloni, A, Tartaglione, T, Uijterwijk, B, Zierikzee, M, Ottenheijm, C, Bertini, E S, Stoppacciaro, A, Raffa, S, Salvetti, M & Antonini, G 2021, ' Novel ACTA1 mutation causes late-presenting nemaline myopathy with unusual dark cores ', Neuromuscular Disorders, vol. 31, no. 2, pp. 139-148 . https://doi.org/10.1016/j.nmd.2020.11.012
Neuromuscular Disorders, 31(2), 139-148. Elsevier Limited

مصطلحات موضوعية: Adult, Male, Sarcomeres, 0301 basic medicine, Pathology, medicine.medical_specialty, Mutation, Missense, Central core, Acta1, Muscle disorder, Biology, Myopathies, Nemaline, Sarcomere, 03 medical and health sciences, 0302 clinical medicine, Nemaline myopathy, medicine, Central core disease, Humans, Muscle, Skeletal, Nemaline bodies, Genetics (clinical), Aged, Congenital myopathy, Muscle Weakness, Muscle biopsy, medicine.diagnostic_test, Skeletal muscle, Muscle weakness, Middle Aged, medicine.disease, Actins, Pedigree, Phenotype, 030104 developmental biology, medicine.anatomical_structure, Neurology, Core-rod myopathy, Mutation, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21e22653de2aba26bdf9cdf178ab20f3
https://doi.org/10.1016/j.nmd.2020.11.012

المؤلفون: Francesca Cortese, Laura De Giglio, Elena Maria Pennisi

المصدر: Neurodegenerative Disease Management. 10:409-423

مصطلحات موضوعية: medicine.medical_specialty, Multiple Sclerosis, Symptomatic treatment, Central nervous system, Aminopyridines, 03 medical and health sciences, 0302 clinical medicine, Quality of life, Potassium Channel Blockers, medicine, Humans, 4-Aminopyridine, Intensive care medicine, Disease burden, 030304 developmental biology, Episodic ataxia, 0303 health sciences, business.industry, Multiple sclerosis, medicine.disease, Lambert-Eaton Myasthenic Syndrome, medicine.anatomical_structure, Quality of Life, Neurology (clinical), Nervous System Diseases, business, Lambert-Eaton myasthenic syndrome, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3e45d8ea63d098b80a04fbecff691d9
https://doi.org/10.2217/nmt-2020-0018

المؤلفون: Luigetti, Marco, Antonini, Giovanni, Di Paolantonio, Andrea, Gentile, Luca, Grandis, Marina, Leonardi, Luca, Lozza, Alessandro, Manganelli, Fiore, Mazzeo, Anna, Mussinelli, Roberta, My, Filomena, Obici, Laura, Maria Pennisi, Elena, Romozzi, Marina, Russo, Massimo, Sabatelli, Mario, Salvalaggio, Alessandro, Tagliapietra, Matteo, Tozza, Stefano, Luigetti, Marco (ORCID:0000-0001-7539-505X), Sabatelli, Mario (ORCID:0000-0001-6635-4985)

مصطلحات الفهرس: ATTRv, amyloidosis, inotersen, real life, Settore MED/26 - NEUROLOGIA, info:eu-repo/semantics/article

URL: https://hdl.handle.net/10807/231949
info:eu-repo/semantics/altIdentifier/pmid/35289020
info:eu-repo/semantics/altIdentifier/wos/WOS:000773629000001
volume:29
issue:7
firstpage:2148
lastpage:2155
numberofpages:8
issueyear:2022
journal:EUROPEAN JOURNAL OF NEUROLOGY

المؤلفون: Laura De Giglio, Federico Sadun, Cinzia Roberti, Luigi Polidori, Marta Gilardi, Maria Concetta Altavista, Elena Maria Pennisi

المصدر: European journal of ophthalmology.

مصطلحات موضوعية: Ophthalmology, General Medicine, eye diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08d251f7a9201d7d82a536e4b00c2699
https://pubmed.ncbi.nlm.nih.gov/35167395

المؤلفون: Salvatore Rossi, Matteo Garibaldi, Gary Cutter, Stefania Morino, Elisabetta Bucci, Marco Salvetti, Enzo Ricci, Antonio Petrucci, Elena Maria Pennisi, Alessia Perna, Gioia Merlonghi, Jordi Díaz-Manera, Girolamo Alfieri, Giovanni Antonini, Luca Leonardi, Antonio Lauletta, Laura Tufano, Gabriella Silvestri, Laura Fionda, Tommaso Tartaglione, Tommaso Nicoletti

المصدر: EUROPEAN JOURNAL OF NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

مصطلحات موضوعية: Weakness, Pathology, medicine.medical_specialty, Myotonic dystrophy, Asymptomatic, Medicine, Humans, Myotonic Dystrophy, Muscle, Skeletal, Wasting, myotonic dystrophy type 1, clinical trials, CTG, muscle atrophy and inflammation, muscle MRI, Muscle Weakness, biology, business.industry, Gluteus minimus, Muscle weakness, medicine.disease, biology.organism_classification, Magnetic Resonance Imaging, Muscle atrophy, Settore MED/26 - NEUROLOGIA, Cross-Sectional Studies, Neurology, Biomarker (medicine), Neurology (clinical), medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b163935497777bc81c8081c83ca80f1
http://hdl.handle.net/10807/196370