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Carlo Rinaldi

Showing results (41-50 of 62) with videos related to

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Molecular Therapy. Nucleic Acids|February 12, 2021
Targeting the 5' untranslated region of <i>SMN2</i> as a therapeutic strategy for spinal muscular atrophyAudrey M Winkelsas, Christopher Grunseich, George G Harmison, et al.
EMBO Molecular Medicine|September 19, 2023
PRMT inhibitor promotes SMN2 exon 7 inclusion and synergizes with nusinersen to rescue SMA miceAnna J Kordala, Jessica Stoodley, Nina Ahlskog, et al.
Journal of Neurology|June 28, 2011
A randomized controlled clinical trial of growth hormone in amyotrophic lateral sclerosis: clinical, neuroimaging, and hormonal resultsFrancesco Saccà, Mario Quarantelli, Carlo Rinaldi, et al.
Nucleic Acids Research|January 23, 2025
Tissue-specific modulation of CRISPR activity by miRNA-sensing guide RNAsAntonio Garcia-Guerra, Chaitra Sathyaprakash, Olivier G de Jong, et al.
Human Molecular Genetics|March 11, 2016
A small-molecule Nrf1 and Nrf2 activator mitigates polyglutamine toxicity in spinal and bulbar muscular atrophyLaura C Bott, Nisha M Badders, Ke-Lian Chen, et al.
American Journal of Human Genetics|December 11, 2012
Cowchock syndrome is associated with a mutation in apoptosis-inducing factorCarlo Rinaldi, Christopher Grunseich, Irina F Sevrioukova, et al.
Journal of Neurology|April 14, 2009
Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic studyChiara Criscuolo, Alessandro Filla, Giovanni Coppola, et al.
Cells|February 6, 2020
Polyglutamine-Expanded Androgen Receptor Alteration of Skeletal Muscle Homeostasis and Myonuclear Aggregation Are Affected by Sex, Age and Muscle MetabolismMathilde Chivet, Caterina Marchioretti, Marco Pirazzini, et al.
Neuromuscular Disorders : NMD|July 23, 2014
Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeatChristopher Grunseich, Ilona R Kats, Laura C Bott, et al.
Neurology|February 22, 2019
Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophyVittoria Lombardi, Giorgia Querin, Oliver J Ziff, et al.
Pageof 7

Showing results (41-50 of 62) with videos related to

Sort By:
Pageof 7
Molecular Therapy. Nucleic Acids|February 12, 2021
Targeting the 5' untranslated region of <i>SMN2</i> as a therapeutic strategy for spinal muscular atrophyAudrey M Winkelsas, Christopher Grunseich, George G Harmison, et al.
EMBO Molecular Medicine|September 19, 2023
PRMT inhibitor promotes SMN2 exon 7 inclusion and synergizes with nusinersen to rescue SMA miceAnna J Kordala, Jessica Stoodley, Nina Ahlskog, et al.
Journal of Neurology|June 28, 2011
A randomized controlled clinical trial of growth hormone in amyotrophic lateral sclerosis: clinical, neuroimaging, and hormonal resultsFrancesco Saccà, Mario Quarantelli, Carlo Rinaldi, et al.
Nucleic Acids Research|January 23, 2025
Tissue-specific modulation of CRISPR activity by miRNA-sensing guide RNAsAntonio Garcia-Guerra, Chaitra Sathyaprakash, Olivier G de Jong, et al.
Human Molecular Genetics|March 11, 2016
A small-molecule Nrf1 and Nrf2 activator mitigates polyglutamine toxicity in spinal and bulbar muscular atrophyLaura C Bott, Nisha M Badders, Ke-Lian Chen, et al.
American Journal of Human Genetics|December 11, 2012
Cowchock syndrome is associated with a mutation in apoptosis-inducing factorCarlo Rinaldi, Christopher Grunseich, Irina F Sevrioukova, et al.
Journal of Neurology|April 14, 2009
Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic studyChiara Criscuolo, Alessandro Filla, Giovanni Coppola, et al.
Cells|February 6, 2020
Polyglutamine-Expanded Androgen Receptor Alteration of Skeletal Muscle Homeostasis and Myonuclear Aggregation Are Affected by Sex, Age and Muscle MetabolismMathilde Chivet, Caterina Marchioretti, Marco Pirazzini, et al.
Neuromuscular Disorders : NMD|July 23, 2014
Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeatChristopher Grunseich, Ilona R Kats, Laura C Bott, et al.
Neurology|February 22, 2019
Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophyVittoria Lombardi, Giorgia Querin, Oliver J Ziff, et al.
Pageof 7