Sabrina Salani

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico — Italy

Medicine · Health Sciences

36h-index3.7kcitations92works1.02yr avg
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Research Topics

Neurogenetic and Muscular Disorders Research(37), Muscle Physiology and Disorders(19), Pluripotent Stem Cells Research(15), RNA modifications and cancer(14), Amyotrophic Lateral Sclerosis Research(13)

Publications92 total

Soft cerebellar signs unveil <i>RARS2</i>‐related epilepsy
Epileptic Disorders·2024· 1 citedOpen Access
Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant
Frontiers in Genetics·2023· 6 citedOpen Access
Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot–Marie–Tooth type 2A
Cellular and Molecular Life Sciences·2023· 19 citedOpen Access
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy
European Journal of Human Genetics·2023· 11 citedOpen Access
Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation in Phospholamban Gene
Cells·2023· 5 citedOpen Access
Combined RNA interference and gene replacement therapy targeting MFN2 for the treatment of Charcot-Marie-Tooth type 2A
Research Square (Research Square)·2023Open Access
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes
International Journal of Molecular Sciences·2023· 13 citedOpen Access
Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB Gene
International Journal of Molecular Sciences·2022· 3 citedOpen Access
Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia
Cell & Bioscience·2022· 2 citedOpen Access
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired
Journal of Neurology Neurosurgery & Psychiatry·2022· 6 citedOpen Access
Additional file 8 of Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia
Figshare·2022Open Access
Additional file 7 of Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia
Figshare·2022Open Access
Additional file 2 of Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia
Figshare·2022Open Access
Additional file 5 of Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia
Figshare·2022Open Access
Additional file 9 of Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia
Figshare·2022Open Access
Additional file 6 of Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia
Figshare·2022Open Access
Additional file 4 of Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia
Figshare·2022Open Access
Additional file 3 of Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia
Figshare·2022Open Access
A Novel Homozygous <scp><i>VPS11</i></scp> Variant May Cause Generalized Dystonia
Annals of Neurology·2021· 26 citedOpen Access
Dystonia‐ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency
Annals of Clinical and Translational Neurology·2020· 14 citedOpen Access
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Frequent Co-authors

Giacomo P. Comi(47), Nereo Bresolin(43), Stefania Corti(42), Monica Nizzardo(23), Francesco Fortunato(20), Chiara Donadoni(19), Andreina Bordoni(19), Roberto Del Bo(18), Federica Locatelli(15), Sandra Strazzer(14), Dario Ronchi(13), Federica Rizzo(13), Chiara Simone(12), Dimitra Papadimitriou(11), Martina Nardini(10), Maurizio Moggio(9), A. Prelle(7), G. Scarlato(7), Francesca Magri(7), Giulietta Riboldi(7)