المؤلفون: Rossi, Cesare, Ramadan, Sherin, Evangelisti, Cecilia, Ferrari, Simona, Accadia, Maria, Toydemir, Reha M., Panza, Emanuele

المصدر: Frontiers in Genetics ; volume 14 ; ISSN 1664-8021

الاتاحة: http://dx.doi.org/10.3389/fgene.2023.1082100
https://www.frontiersin.org/articles/10.3389/fgene.2023.1082100/full

المؤلفون: Evangelisti, Cecilia, Ramadan, Sherin, Orlacchio, Antonio, Panza, Emanuele

المصدر: International Journal of Molecular Sciences; Sep2024, Vol. 25 Issue 17, p9747, 18p

مصطلحات موضوعية: MOTOR neuron diseases, INDUCED pluripotent stem cells, ALZHEIMER'S disease, AMYOTROPHIC lateral sclerosis, HUNTINGTON disease, PLURIPOTENT stem cells

المؤلفون: Innella, Giovanni, Coccia, Emanuele, Cristalli, Carlotta Pia, Zacchi, Eliana, Calabrese, Sara, Bacchi, Isabelle, Palombo, Flavia, Taormina, Sara, Evangelisti, Cecilia, Lanzoni, Giulia, Carelli, Valerio, Diquigiovanni, Chiara, Ferrari, Simona, Panza, Emanuele, Rossi, Cesare, Vaisfeld, Alessandro, Bonora, Elena, Turchetti, Daniela

المساهمون: Innella, Giovanni, Coccia, Emanuele, Cristalli, Carlotta Pia, Zacchi, Eliana, Calabrese, Sara, Bacchi, Isabelle, Palombo, Flavia, Taormina, Sara, Evangelisti, Cecilia, Lanzoni, Giulia, Carelli, Valerio, Diquigiovanni, Chiara, Ferrari, Simona, Panza, Emanuele, Rossi, Cesare, Vaisfeld, Alessandro, Bonora, Elena, Turchetti, Daniela

مصطلحات موضوعية: VUS, splicing, transcript analysis

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/39707869; info:eu-repo/semantics/altIdentifier/wos/WOS:001380826900001; volume:?; firstpage:1; lastpage:6; numberofpages:6; journal:CLINICAL GENETICS; https://hdl.handle.net/11585/999632

الاتاحة: https://hdl.handle.net/11585/999632
https://doi.org/10.1111/cge.14684

المؤلفون: Evangelisti Cecilia, Ramadan Sherin, Orlacchio Antonio, Panza Emanuele

المساهمون: Evangelisti, Cecilia, Ramadan, Sherin, Orlacchio, Antonio, Panza, Emanuele

مصطلحات موضوعية: gene editing, iPSCs, model organisms, organoid, primary cells

Relation: info:eu-repo/semantics/altIdentifier/pmid/39273694; info:eu-repo/semantics/altIdentifier/wos/WOS:001311269400001; volume:25; issue:17; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/11391/1589403

الاتاحة: https://hdl.handle.net/11391/1589403
https://doi.org/10.3390/ijms25179747

المؤلفون: Basavaraju Preethi, Moorthi Puthamohan Vinayaga, Meyyazhagan Arun, Devaraj Ilakkiyapavai, Babu Kavipriya, Panza Emanuele, Orlacchio Antonio

المساهمون: Basavaraju, Preethi, Moorthi Puthamohan, Vinayaga, Meyyazhagan, Arun, Devaraj, Ilakkiyapavai, Babu, Kavipriya, Panza, Emanuele, Orlacchio, Antonio

مصطلحات موضوعية: Allelic variants, Apolipoprotein-E, Diabetic nephropathy, Proteinuria and lipid profile

Relation: info:eu-repo/semantics/altIdentifier/pmid/39417844; info:eu-repo/semantics/altIdentifier/wos/WOS:001338555000001; journal:ACTA DIABETOLOGICA; https://hdl.handle.net/11391/1589401

الاتاحة: https://hdl.handle.net/11391/1589401
https://doi.org/10.1007/s00592-024-02374-2

المؤلفون: Meyyazhagan, Arun, Basavaraju, Preethi, Miele, Marialuisa, Kawarai, Toshitaka, Panza, Emanuele, Orlacchio, Antonio

المصدر: Alzheimers Dement ; ISSN:1552-5279 ; Volume:20 Suppl 1

Relation: https://doi.org/10.1002/alz.089719; https://pubmed.ncbi.nlm.nih.gov/39750756

الاتاحة: https://doi.org/10.1002/alz.089719
https://pubmed.ncbi.nlm.nih.gov/39750756

المؤلفون: Marco-Marín, Clara, Escamilla-Honrubia, Juan M, Llácer, José L, Seri, Marco, Panza, Emanuele, Rubio, Vicente

المساهمون: Marco-Marín, Clara, Escamilla-Honrubia, Juan M, Llácer, José L, Seri, Marco, Panza, Emanuele, Rubio, Vicente

مصطلحات موضوعية: ALDH18A1 gene-related disorders. Cutis laxa type III. Hereditary spastic paraplegia type 9. ARCL3A. ADCL3. SPG9A. SPG9B

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/32017139; info:eu-repo/semantics/altIdentifier/wos/WOS:000552030200004; volume:43; issue:4; firstpage:657; lastpage:670; numberofpages:14; journal:JOURNAL OF INHERITED METABOLIC DISEASE; https://hdl.handle.net/11585/725093; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85079464028

الاتاحة: https://hdl.handle.net/11585/725093
https://doi.org/10.1002/jimd.12220
https://onlinelibrary.wiley.com/doi/full/10.1002/jimd.12220

المؤلفون: Benvenuto, Mario, Cesarini, Sofia, Severi, Giulia, Ambrosini, Enrico, Russo, Angelo, Seri, Marco, Palumbo, Pietro, Palumbo, Orazio, Castori, Marco, Panza, Emanuele, Carella, Massimo

المصدر: Genes; Apr2024, Vol. 15 Issue 4, p430, 8p

مصطلحات موضوعية: RNA splicing, PHENOTYPES, DEVELOPMENTAL delay, SYNDROMES, GENES, GENETIC mutation

المؤلفون: Martinello Chiara, Panza Emanuele, Orlacchio Antonio

المساهمون: Martinello, Chiara, Panza, Emanuele, Orlacchio, Antonio

مصطلحات موضوعية: ER morphology and trafficking, Hereditary spastic paraplegia, axon trafficking, common pathogenetic pathways, lipid metabolism, mitochondria, myelination, target therapies

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/37788157; info:eu-repo/semantics/altIdentifier/wos/WOS:001074315000001; volume:20; issue:7-9; firstpage:171; lastpage:188; numberofpages:18; journal:EXPERT REVIEW OF PROTEOMICS; https://hdl.handle.net/11391/1566494

الاتاحة: https://hdl.handle.net/11391/1566494
https://doi.org/10.1080/14789450.2023.2260952

المؤلفون: Toydemir, Reha M., Panza, Emanuele, Longhurst, Maria C., South, Sarah T., Rope, Alan F.

المصدر: Molecular Syndromology ; volume 11, issue 3, page 125-129 ; ISSN 1661-8769 1661-8777

الاتاحة: http://dx.doi.org/10.1159/000507598
https://www.karger.com/Article/Pdf/507598

المؤلفون: Magini, Pamela, Marco‐Marin, Clara, Escamilla-Honrubia, Juan Manuel, Martinelli, Diego, Dionisi-Vici, Carlo, Faravelli, Francesca, Forzano, Francesca, Seri, Marco, Rubio, Vicente, Panza, Emanuele

المساهمون: Ministerio de Economía y Competitividad (España), Rubio, Vicente

Relation: #PLACEHOLDER_PARENT_METADATA_VALUE#; info:eu-repo/grantAgreement/MINECO/Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016/BFU2017-84264-P; Publisher's version; http://dx.doi.org/10.1002/acn3.50821; Sí; Annals of Clinical and Translational Neurology 6(8):1533-1540 (2019); http://hdl.handle.net/10261/190683; http://dx.doi.org/10.13039/501100003329

الاتاحة: http://hdl.handle.net/10261/190683
https://doi.org/10.1002/acn3.50821
https://doi.org/10.13039/501100003329

المؤلفون: Panza, Emanuele, Martinelli, Diego, Magini, Pamela, Dionisi Vici, Carlo, Seri, Marco

المصدر: Frontiers in Neurology ; volume 10 ; ISSN 1664-2295

الاتاحة: http://dx.doi.org/10.3389/fneur.2019.00131
https://www.frontiersin.org/article/10.3389/fneur.2019.00131/full

المؤلفون: Panza Emanuele, Meyyazhagan Arun, Orlacchio Antonio

المساهمون: Panza, Emanuele, Meyyazhagan, Arun, Orlacchio, Antonio

مصطلحات موضوعية: Genetic heterogeneity, Hereditary spastic paraplegia, Pathogenetic pathways, Therapies, Humans, Mutation, Phenotype, Pyramidal Tracts, Spastic Paraplegia, Hereditary

Relation: info:eu-repo/semantics/altIdentifier/pmid/35970204; info:eu-repo/semantics/altIdentifier/wos/WOS:000862838900003; volume:357; firstpage:114203; journal:EXPERIMENTAL NEUROLOGY; https://hdl.handle.net/11391/1535921

الاتاحة: https://hdl.handle.net/11391/1535921
https://doi.org/10.1016/j.expneurol.2022.114203

المؤلفون: Martinello, Chiara, Panza, Emanuele, Orlacchio, Antonio

المصدر: Expert Review of Proteomics; 2023, Vol. 20 Issue 7-9, p171-188, 18p

المؤلفون: Longo, Luca, Panza, Emanuele, Schena, Francesca, Seri, Marco, Devoto, Marcella, Romeo, Giovanni, Bini, Carla, Pappalardo, Giuseppe, Tonini, Gian Paolo, Perri, Patrizia

المصدر: Human Heredity, 2007 Jan 01. 63(3/4), 205-211.

URL الوصول: https://www.jstor.org/stable/48506777

المؤلفون: Panza, Emanuele, Escamilla-Honrubia, Juan Manuel, Marco-Marín, Clara, Gougeard, Nadine, De Michele, Giuseppe, Brescia Morra, Vincenzo, Liguori, Rocco, Salviati, Leonardo, Donati, Maria Alice, Cusano, Roberto, Pippucci, Tommaso, Ravazzolo, Roberto, Nemeth, Andrea H, Smithson, Sarah, Davies, Sally, Hurst, Jane A, Bordo, Domenico, Rubio, Vicente, Seri, Marco

المساهمون: Ministerio de Economía y Competitividad (España), Generalitat Valenciana, Centro de Investigación Biomédica en Red Enfermedades Raras (España), Rubio, Vicente, Escamilla-Honrubia, Juan Manuel

Relation: #PLACEHOLDER_PARENT_METADATA_VALUE#; info:eu-repo/grantAgreement/MINECO/Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016/BFU2011-30407; Postprint; http://dx.doi.org/10.1093/brain/awv247; Sí; Brain 139(Pt 1):e3 (2016); http://hdl.handle.net/10261/171140; http://dx.doi.org/10.13039/501100003359; http://dx.doi.org/10.13039/501100003329

الاتاحة: http://hdl.handle.net/10261/171140
https://doi.org/10.1093/brain/awv247
https://doi.org/10.13039/501100003359
https://doi.org/10.13039/501100003329

المؤلفون: Meyyazhagan, Arun, Basavaraju, Preethi, Miele, Marialuisa, Kawarai, Toshitaka, Panza, Emanuele, Orlacchio, Antonio

المصدر: Alzheimer's & Dementia: The Journal of the Alzheimer's Association; Dec2024 Supplement 1, Vol. 20, p1-1, 1p

المؤلفون: Panza, Emanuele, Gimelli, Giorgio, Passalacqua, Mario, Cohen, Amnon, Gimelli, Stefania, Giglio, Sabrina, Ghezzi, Cristina, Sparatore, Bianca, Heye, Babett, Zuffardi, Orsetta, Rugarli, Elena, Meitinger, Thomas, Romeo, Giovanni, Ravazzolo, Roberto, Seri, Marco

مصطلحات موضوعية: Genetics, General Medicine

Relation: url:https://www.openaccessrepository.it/communities/itmirror; https://www.openaccessrepository.it/record/199328

الاتاحة: https://www.openaccessrepository.it/record/199328
https://doi.org/10.3892/ijmm.19.3.429

المؤلفون: Graziano, Claudio, Carone, Simona, Panza, Emanuele, Marino, Flora, Magini, Pamela, Romeo, Giovanni, Pession, Andrea, Seri, Marco

مصطلحات موضوعية: Cell Biology, Hematology, Immunology, Biochemistry

Relation: url:https://www.openaccessrepository.it/communities/itmirror; https://www.openaccessrepository.it/record/196892

الاتاحة: https://www.openaccessrepository.it/record/196892
https://doi.org/10.1182/blood-2009-04-217851

المؤلفون: Panza, Emanuele, Marini, Monica, Pecci, Alessandro, Giacopelli, Francesca, Bozzi, Valeria, Seri, Marco, Balduini, Carlo, Ravazzolo, Roberto

المصدر: PathoGenetics ; volume 1, issue 1 ; ISSN 1755-8417

الاتاحة: http://dx.doi.org/10.1186/1755-8417-1-5
https://link.springer.com/content/pdf/10.1186/1755-8417-1-5.pdf