المؤلفون: Ilaria Bitetti, Maria Rosaria Manna, Roberto Stella, Antonio Varone

المصدر: Frontiers in Neurology, Vol 15 (2024)

مصطلحات موضوعية: gene replacement therapy, motor function, neurocognitive function, onasemnogene abeparvovec, spinal muscular atrophy, Neurology. Diseases of the nervous system, RC346-429

الوصف: IntroductionSpinal muscular atrophy (SMA) is a neurodegenerative disease caused by mutations in the survival motor neuron 1 (SMN1) gene. In clinical studies, gene replacement therapy with onasemnogene abeparvovec (formerly AVXS-101, Zolgensma®, Novartis) was efficacious in improving motor functioning in children with SMA. However, its effects on cognitive and language skills are largely unknown.MethodsThis longitudinal observational study evaluated changes in motor and neurocognitive functioning over a 1-year period after administration of onasemnogene abeparvovec in 12 symptomatic SMA type 1 patients with two copies of SMN2 aged 1.7–52.6 months at administration. Motor functioning was measured using the Children's Hospital of Philadelphia Infant Test for Neuromuscular Disorders (CHOP-INTEND) while neurocognitive assessment was measured using Griffiths III. Motor milestones and language ability were also assessed at each timepoint.Results and discussionStatistically significant increases in median CHOP-INTEND scores from baseline were observed at 1, 3, 6, and 12 months after onasemnogene abeparvovec administration (all p ≤ 0.005). Most (91.7%) patients were able to roll over or sit independently for >1 min at 12 months. Significant increases in the Griffiths III Foundations of Learning, Language and Communication, Eye and Hand Coordination, and Personal-Social-Emotional subscale scores were observed at 12-months, but not in the Gross Motor subscale. Speech and language abilities progressed in most patients. Overall, most patients showed some improvement in cognitive and communication performance after treatment with onasemnogene abeparvovec in addition to significant improvement in motor functioning and motor milestones. Evaluation of neurocognitive function should be considered when assessing the global functioning of patients with SMA.

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2024.1326528/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/3d1fe16a3d9f4da3b4088f865c2517a8Test

المؤلفون: Marika Pane, Beatrice Berti, Anna Capasso, Giorgia Coratti, Antonio Varone, Adele D’Amico, Sonia Messina, Riccardo Masson, Valeria Ada Sansone, Maria Alice Donati, Caterina Agosto, Claudio Bruno, Federica Ricci, Antonella Pini, Delio Gagliardi, Massimiliano Filosto, Stefania Corti, Daniela Leone, Concetta Palermo, Roberta Onesimo, Roberto De Sanctis, Martina Ricci, Ilaria Bitetti, Maria Sframeli, Claudia Dosi, Emilio Albamonte, Chiara Ticci, Noemi Brolatti, Enrico Bertini, Richard Finkel, Eugenio Mercuri, Maria Carmela Pera, Chiara Bravetti, Marco Piastra, Orazio Genovese, Gianpaolo Cicala, Nicola Forcina, Sara Carnicella, Giulia Stanca, Michele Sacchini, Michela Catteruccia, Michele Tosi, Renato Cutrera, Claudio Chierchi, Maria Beatrice Chiarini, Francesca Salmin, Marina Pedemonte, Alessandra Govoni, Irene Mizzoni, Simone Morando, Riccardo Zanin, Enrica Rolle, Eleonora Salomon, Melania Giannotta, Gaia Scarpini, Antonio Toscano, Eloisa Gitto, Roberto Materia, Rossella D’Alessandro

المصدر: EClinicalMedicine, Vol 59, Iss , Pp 101997- (2023)

مصطلحات موضوعية: Spinal muscular atrophy, Gene therapy, Follow-up, Longitudinal, Safety, Medicine (General), R5-920

الوصف: Summary: Background: Efficacy and safety of onasemnogene abeparvovec (OA) for Spinal Muscular Atrophy infants under 7 months and

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2589537023001748Test; https://doaj.org/toc/2589-5370Test

الوصول الحر: https://doaj.org/article/40165d9821824625a9a6285a88f2fdbcTest

المؤلفون: Emanuele Monda, Michele Lioncino, Martina Caiazza, Vincenzo Simonelli, Claudia Nesti, Marta Rubino, Alessia Perna, Alfredo Mauriello, Alberta Budillon, Vincenzo Pota, Giorgia Bruno, Antonio Varone, Vincenzo Nigro, Filippo Maria Santorelli, Giuseppe Pacileo, Maria Giovanna Russo, Giulia Frisso, Simone Sampaolo, Giuseppe Limongelli

المصدر: International Journal of Molecular Sciences, Vol 24, Iss 10, p 9108 (2023)

مصطلحات موضوعية: cardiomyopathy, neuromuscular disease, genetic testing, Biology (General), QH301-705.5, Chemistry, QD1-999

الوصف: Cardiomyopathies are mostly determined by genetic mutations affecting either cardiac muscle cell structure or function. Nevertheless, cardiomyopathies may also be part of complex clinical phenotypes in the spectrum of neuromuscular (NMD) or mitochondrial diseases (MD). The aim of this study is to describe the clinical, molecular, and histological characteristics of a consecutive cohort of patients with cardiomyopathy associated with NMDs or MDs referred to a tertiary cardiomyopathy clinic. Consecutive patients with a definitive diagnosis of NMDs and MDs presenting with a cardiomyopathy phenotype were described. Seven patients were identified: two patients with ACAD9 deficiency (Patient 1 carried the c.1240C>T (p.Arg414Cys) homozygous variant in ACAD9; Patient 2 carried the c.1240C>T (p.Arg414Cys) and the c.1646G>A (p.Ar549Gln) variants in ACAD9); two patients with MYH7-related myopathy (Patient 3 carried the c.1325G>A (p.Arg442His) variant in MYH7; Patient 4 carried the c.1357C>T (p.Arg453Cys) variant in MYH7); one patient with desminopathy (Patient 5 carried the c.46C>T (p.Arg16Cys) variant in DES); two patients with mitochondrial myopathy (Patient 6 carried the m.3243A>G variant in MT-TL1; Patient 7 carried the c.253G>A (p.Gly85Arg) and the c.1055C>T (p.Thr352Met) variants in MTO1). All patients underwent a comprehensive cardiovascular and neuromuscular evaluation, including muscle biopsy and genetic testing. This study described the clinical phenotype of rare NMDs and MDs presenting as cardiomyopathies. A multidisciplinary evaluation, combined with genetic testing, plays a main role in the diagnosis of these rare diseases, and provides information about clinical expectations, and guides management.

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/24/10/9108Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/966a41b1a41341a695c79e43622eec5bTest

المؤلفون: Alfonso Rubino, Pia Bernardo, Carmela Russo, Celeste Tucci, Luigia D'Amato, Veronica Piccolo, Vincenzo Andreone, Pasquale Striano, Geremia Zito Marinosci, Antonio Varone

المصدر: Brain and Development. 45:87-91

مصطلحات موضوعية: Developmental Neuroscience, Pediatrics, Perinatology and Child Health, Neurology (clinical), General Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::910d94dd4fe1de7383e8609f01f281c6Test
https://doi.org/10.1016/j.braindev.2022.08.007Test

المؤلفون: Michele Lioncino, Emanuele Monda, Martina Caiazza, Vincenzo Simonelli, Claudia Nesti, Alfredo Mauriello, Alberta Budillon, Alessandro Di Santo, Giorgia Bruno, Antonio Varone, Vincenzo Nigro, Filippo Maria Santorelli, Giuseppe Pacileo, Maria Giovanna Russo, Giulia Frisso, Simone Sampaolo, Giuseppe Limongelli

المصدر: Circulation: Genomic and Precision Medicine.

مصطلحات موضوعية: General Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9143114d9027486deba5d82b937d35daTest
https://doi.org/10.1161/circgen.123.004122Test

المؤلفون: Irene Georgakoudi, Karl Münger, Kyongbum Lee, Carlo Alonzo, Margaret E. McLaughlin-Drubin, Gautham Sridharan, Dimitra Pouli, Kyle P. Quinn, Joanna Xylas, Antonio Varone

الوصف: PDF file - 516KB, TPEF images and quantitative data from cells exposed to KSFM, Low Glu (low glucose), No Glu (no glucose), and Low Oxy (low O2) media.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55bddb37e3879dee78b1fc2a664aec29Test
https://doi.org/10.1158/0008-5472.22398638.v1Test

المؤلفون: Irene Georgakoudi, Karl Münger, Kyongbum Lee, Carlo Alonzo, Margaret E. McLaughlin-Drubin, Gautham Sridharan, Dimitra Pouli, Kyle P. Quinn, Joanna Xylas, Antonio Varone

الوصف: AVI file - 1119KB, Representative endogenous TPEF OPTICAL STACK E6E7 EETE.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23d83f7de2581da1c2f8c6b0943d0ff1Test
https://doi.org/10.1158/0008-5472.22398611Test

المؤلفون: Irene Georgakoudi, Karl Münger, Kyongbum Lee, Carlo Alonzo, Margaret E. McLaughlin-Drubin, Gautham Sridharan, Dimitra Pouli, Kyle P. Quinn, Joanna Xylas, Antonio Varone

الوصف: AVI file - 1297KB, Representative 3D RENDERING E7 EETE.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a094f85ad66e38d67f06f0a0bdc8ed4Test
https://doi.org/10.1158/0008-5472.22398614.v1Test

المؤلفون: Irene Georgakoudi, Karl Münger, Kyongbum Lee, Carlo Alonzo, Margaret E. McLaughlin-Drubin, Gautham Sridharan, Dimitra Pouli, Kyle P. Quinn, Joanna Xylas, Antonio Varone

الوصف: PDF file - 287KB, Representative autofluorescence images and 3D renderings for each type of EETE.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::462d6fb7ed5f5c13a13cd9cee409898aTest
https://doi.org/10.1158/0008-5472.22398647.v1Test

المؤلفون: Irene Georgakoudi, Karl Münger, Kyongbum Lee, Carlo Alonzo, Margaret E. McLaughlin-Drubin, Gautham Sridharan, Dimitra Pouli, Kyle P. Quinn, Joanna Xylas, Antonio Varone

الوصف: AVI file - 1191KB, Representative endogenous TPEF OPTICAL STACK E6 EETE.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2331a4749bfcbd66f52600d4ffab7416Test
https://doi.org/10.1158/0008-5472.22398605Test