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Carlo Rinaldi

Showing results (51-60 of 62) with videos related to

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Neurology|June 30, 2012
A candidate gene for autoimmune myasthenia gravisGuida Landouré, Melanie A Knight, Horia Stanescu, et al.
Acta Neuropathologica|May 6, 2022
AR cooperates with SMAD4 to maintain skeletal muscle homeostasisMitra Forouhan, Wooi Fang Lim, Laura C Zanetti-Domingues, et al.
Journal of Advanced Research|January 21, 2026
The alternative androgen receptor isoform a mitigates toxicity of polyglutamine-elongated mutant androgen receptor in spinal and bulbar muscular atrophyMarta Chierichetti, Roberta Andreotti, Barbara Tedesco, et al.
Nature Communications|February 6, 2023
LSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and miceRamachandran Prakasam, Angela Bonadiman, Roberta Andreotti, et al.
Science Advances|August 21, 2021
Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activityWooi F Lim, Mitra Forouhan, Thomas C Roberts, et al.
Life Science Alliance|August 14, 2021
Dystrophin involvement in peripheral circadian SRF signallingCorinne A Betts, Aarti Jagannath, Tirsa LE van Westering, et al.
Neurology|November 26, 2024
Functional Outcome Measures to Optimize Drug Development in Spinal and Bulbar Muscular Atrophy: Results From a Meta-Analysis of the Global SBMA DatasetSpencer B Huggett, Andrew T N Tebbenkamp, Carlo Rinaldi, et al.
JAMA Neurology|March 10, 2015
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic ParaplegiaCarlo Rinaldi, Thomas Schmidt, Alan J Situ, et al.
Brain Communications|December 15, 2021
Variants in <i>ATP6V0A1</i> cause progressive myoclonus epilepsy and developmental and epileptic encephalopathyLaura C Bott, Mitra Forouhan, Maria Lieto, et al.
Human Mutation|July 17, 2013
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12Guida Landouré, Peng-Peng Zhu, Charles M Lourenço, et al.
Pageof 7

Showing results (51-60 of 62) with videos related to

Sort By:
Pageof 7
Neurology|June 30, 2012
A candidate gene for autoimmune myasthenia gravisGuida Landouré, Melanie A Knight, Horia Stanescu, et al.
Acta Neuropathologica|May 6, 2022
AR cooperates with SMAD4 to maintain skeletal muscle homeostasisMitra Forouhan, Wooi Fang Lim, Laura C Zanetti-Domingues, et al.
Journal of Advanced Research|January 21, 2026
The alternative androgen receptor isoform a mitigates toxicity of polyglutamine-elongated mutant androgen receptor in spinal and bulbar muscular atrophyMarta Chierichetti, Roberta Andreotti, Barbara Tedesco, et al.
Nature Communications|February 6, 2023
LSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and miceRamachandran Prakasam, Angela Bonadiman, Roberta Andreotti, et al.
Science Advances|August 21, 2021
Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activityWooi F Lim, Mitra Forouhan, Thomas C Roberts, et al.
Life Science Alliance|August 14, 2021
Dystrophin involvement in peripheral circadian SRF signallingCorinne A Betts, Aarti Jagannath, Tirsa LE van Westering, et al.
Neurology|November 26, 2024
Functional Outcome Measures to Optimize Drug Development in Spinal and Bulbar Muscular Atrophy: Results From a Meta-Analysis of the Global SBMA DatasetSpencer B Huggett, Andrew T N Tebbenkamp, Carlo Rinaldi, et al.
JAMA Neurology|March 10, 2015
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic ParaplegiaCarlo Rinaldi, Thomas Schmidt, Alan J Situ, et al.
Brain Communications|December 15, 2021
Variants in <i>ATP6V0A1</i> cause progressive myoclonus epilepsy and developmental and epileptic encephalopathyLaura C Bott, Mitra Forouhan, Maria Lieto, et al.
Human Mutation|July 17, 2013
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12Guida Landouré, Peng-Peng Zhu, Charles M Lourenço, et al.
Pageof 7