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S Bertini

Showing results (71-80 of 88) with videos related to

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European Journal of Neurology|October 9, 2018
Natural history of a cohort of ABCD1 variant female carriersT Schirinzi, G Vasco, C Aiello, et al.
Journal of Child Neurology|September 1, 2007
Consensus statement for standard of care in spinal muscular atrophyChing H Wang, Richard S Finkel, Enrico S Bertini, et al.
Redox Biology|November 16, 2020
The Nrf2 induction prevents ferroptosis in Friedreich's AtaxiaPiergiorgio La Rosa, Sara Petrillo, Riccardo Turchi, et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologicas|June 29, 2022
Using data from a private provider of telemedicine to assess the severity of the early 2021 Covid-19 wave in BrazilP M Barbosa, F C da Silva Júnior, G M C Lima, et al.
American Journal of Medical Genetics. Part A|July 23, 2022
Expanding phenotype of FAM111B-related disease focusing on liver involvement: Literature review, report of a case with end-stage liver disease and proposal for a new acronymMarina Macchiaiolo, Filippo M Panfili, Davide Vecchio, et al.
Bioorganic & Medicinal Chemistry Letters|November 21, 2001
7-Nitrobenzofurazan (NBD) derivatives of 5'-N-ethylcarboxamidoadenosine (NECA) as new fluorescent probes for human A(3) adenosine receptorsM Macchia, F Salvetti, S Bertini, et al.
Cellular and Molecular Life Sciences : CMLS|September 22, 2022
CAPRIN1<sup>P512L</sup> causes aberrant protein aggregation and associates with early-onset ataxiaAndrea Delle Vedove, Janani Natarajan, Ginevra Zanni, et al.
Human Mutation|January 30, 2009
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosisChiara Aiello, Alessandra Terracciano, Alessandro Simonati, et al.
Neurology. Genetics|May 12, 2021
LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, et al.
Neuromuscular Disorders : NMD|June 12, 2020
Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophyKathryn R Wagner, Hoda Z Abdel-Hamid, Jean K Mah, et al.
Pageof 9

Showing results (71-80 of 88) with videos related to

Sort By:
Pageof 9
European Journal of Neurology|October 9, 2018
Natural history of a cohort of ABCD1 variant female carriersT Schirinzi, G Vasco, C Aiello, et al.
Journal of Child Neurology|September 1, 2007
Consensus statement for standard of care in spinal muscular atrophyChing H Wang, Richard S Finkel, Enrico S Bertini, et al.
Redox Biology|November 16, 2020
The Nrf2 induction prevents ferroptosis in Friedreich's AtaxiaPiergiorgio La Rosa, Sara Petrillo, Riccardo Turchi, et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologicas|June 29, 2022
Using data from a private provider of telemedicine to assess the severity of the early 2021 Covid-19 wave in BrazilP M Barbosa, F C da Silva Júnior, G M C Lima, et al.
American Journal of Medical Genetics. Part A|July 23, 2022
Expanding phenotype of FAM111B-related disease focusing on liver involvement: Literature review, report of a case with end-stage liver disease and proposal for a new acronymMarina Macchiaiolo, Filippo M Panfili, Davide Vecchio, et al.
Bioorganic & Medicinal Chemistry Letters|November 21, 2001
7-Nitrobenzofurazan (NBD) derivatives of 5'-N-ethylcarboxamidoadenosine (NECA) as new fluorescent probes for human A(3) adenosine receptorsM Macchia, F Salvetti, S Bertini, et al.
Cellular and Molecular Life Sciences : CMLS|September 22, 2022
CAPRIN1<sup>P512L</sup> causes aberrant protein aggregation and associates with early-onset ataxiaAndrea Delle Vedove, Janani Natarajan, Ginevra Zanni, et al.
Human Mutation|January 30, 2009
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosisChiara Aiello, Alessandra Terracciano, Alessandro Simonati, et al.
Neurology. Genetics|May 12, 2021
LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, et al.
Neuromuscular Disorders : NMD|June 12, 2020
Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophyKathryn R Wagner, Hoda Z Abdel-Hamid, Jean K Mah, et al.
Pageof 9