-
1دورية أكاديمية
المؤلفون: Martina Rimoldi, Ning Wang, Jilin Zhang, Diego Villar, Duncan T. Odom, Jussi Taipale, Paul Flicek, Maša Roller
المصدر: Genome Biology, Vol 25, Iss 1, Pp 1-22 (2024)
مصطلحات موضوعية: DNA methylation, Transcription factor binding, Evolution, Mammals, Biology (General), QH301-705.5, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1474-760XTest
-
2دورية أكاديمية
المؤلفون: Elena Abati, Eleonora Mauri, Martina Rimoldi, Barbara Madini, Francesca Patria, Giacomo Pietro Comi, Stefania Corti
المصدر: Frontiers in Neurology, Vol 15 (2024)
مصطلحات موضوعية: spinal muscular atrophy, sleep, respiratory disorders, sleep-related breathing disorders, non-invasive ventilation, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2024.1299205/fullTest; https://doaj.org/toc/1664-2295Test
-
3دورية أكاديميةCase report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition
المؤلفون: Daniela Piga, Martina Rimoldi, Francesca Magri, Simona Zanotti, Laura Napoli, Michela Ripolone, Serena Pagliarani, Patrizia Ciscato, Daniele Velardo, Adele D’Amico, Enrico Bertini, Giacomo Pietro Comi, Dario Ronchi, Stefania Corti
المصدر: Frontiers in Neurology, Vol 15 (2024)
مصطلحات موضوعية: ACTA1, skeletal muscle rods, glycogen storage, nemaline myopathy, case report, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2024.1340693/fullTest; https://doaj.org/toc/1664-2295Test
-
4دورية أكاديمية
المؤلفون: Martina Rimoldi, Gloria Romagnoli, Francesca Magri, Sara Antognozzi, Claudia Cinnante, Elena Saccani, Patrizia Ciscato, Simona Zanotti, Daniele Velardo, Stefania Corti, Giacomo Pietro Comi, Dario Ronchi
المصدر: Frontiers in Neurology, Vol 14 (2024)
مصطلحات موضوعية: LGMDR8, TRIM32, limb-girdle muscular dystrophy, clinical exome sequencing, tripartite motif-containing proteins, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2023.1281953/fullTest; https://doaj.org/toc/1664-2295Test
-
5دورية أكاديمية
المؤلفون: Martina Rimoldi, Francesca Magri, Sara Antognozzi, Michela Ripolone, Sabrina Salani, Daniela Piga, Letizia Bertolasi, Simona Zanotti, Patrizia Ciscato, Francesco Fortunato, Maurizio Moggio, Stefania Corti, Giacomo Pietro Comi, Dario Ronchi
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: mitochondrial myopathy, cytochrome c oxidase deficiency, COA8, mitochondrial encefalomyopathies, whole exome sequencing, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1278572/fullTest; https://doaj.org/toc/1664-8021Test
-
6دورية أكاديمية
المؤلفون: Carola Rita Ferrari Aggradi, Martina Rimoldi, Gloria Romagnoli, Daniele Velardo, Megi Meneri, Davide Iacobucci, Michela Ripolone, Laura Napoli, Patrizia Ciscato, Maurizio Moggio, Giacomo Pietro Comi, Dario Ronchi, Stefania Corti, Elena Abati
المصدر: Brain Sciences, Vol 13, Iss 12, p 1679 (2023)
مصطلحات موضوعية: Lafora disease, therapeutic strategies, EPM2B, EPM2A, tonic–clonic seizures, Lafora bodies, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
-
7دورية أكاديمية
المؤلفون: Sara Di Rado, Roberta Giansante, Michela Cicirelli, Lucrezia Pilenzi, Anastasia Dell’Elice, Federico Anaclerio, Martina Rimoldi, Antonino Grassadonia, Simona Grossi, Nicole Canale, Patrizia Ballerini, Liborio Stuppia, Ivana Antonucci
المصدر: Cancers, Vol 15, Iss 24, p 5730 (2023)
مصطلحات موضوعية: NGS multigene panel, hereditary cancer, healthy collateral family members, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
-
8دورية أكاديمية
المؤلفون: Daniele Velardo, Sara Antognozzi, Martina Rimoldi, Serena Pagliarani, Filippo Cogiamanian, Sergio Barbieri, Stefania Corti, Giacomo Pietro Comi, Dario Ronchi
المصدر: Frontiers in Neurology, Vol 14 (2023)
مصطلحات موضوعية: Brody myopathy, SERCA1, ATP2A1, WES, neuromuscular disorder, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2023.1170071/fullTest; https://doaj.org/toc/1664-2295Test
-
9صورة
المؤلفون: Daniela Piga, Martina Rimoldi, Francesca Magri, Simona Zanotti, Laura Napoli, Michela Ripolone, Serena Pagliarani, Patrizia Ciscato, Daniele Velardo, Adele D’Amico, Enrico Bertini, Giacomo Pietro Comi, Dario Ronchi, Stefania Corti
مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, ACTA1, skeletal muscle rods, glycogen storage, nemaline myopathy, case report
الإتاحة: https://doi.org/10.3389/fneur.2024.1340693.s001Test
https://figshare.com/articles/figure/Image_1_Case_report_A_novel_ACTA1_variant_in_a_patient_with_nemaline_rods_and_increased_glycogen_deposition_pdf/25332682Test -
10
المؤلفون: Martina Rimoldi, Gloria Romagnoli, Francesca Magri, Sara Antognozzi, Claudia Cinnante, Elena Saccani, Patrizia Ciscato, Simona Zanotti, Daniele Velardo, Stefania Corti, Giacomo Pietro Comi, Dario Ronchi
مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, LGMDR8, TRIM32, limb-girdle muscular dystrophy, clinical exome sequencing, tripartite motif-containing proteins
الإتاحة: https://doi.org/10.3389/fneur.2023.1281953.s001Test
https://figshare.com/articles/dataset/Data_Sheet_1_Case_report_A_novel_patient_presenting_TRIM32-related_limb-girdle_muscular_dystrophy_pdf/25019930Test