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PubPharm (144)
1
Trimetazidine Improves Mitochondrial Dysfunction in SOD1G93A Cellular Models of Amyotrophic Lateral Sclerosis through Autophagy Activation
enthalten in:
International journal of molecular sciences
| 2024
von
Salvatori, I.
|
Nesci, V.
|
Spalloni, A.
| +15
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2
Comprehensive Cardiovascular Management of Myotonic Dystrophy Type 1 Patients: A Report from Italian Neuro-Cardiology Network
enthalten in:
Preprints.org
| 2024
von
Russo, V.
|
Antonini, G.
|
Massa, R.
| +10
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3
Comprehensive Cardiovascular Management of Myotonic Dystrophy Type 1 Patients : A Report from the Italian Neuro-Cardiology Network
enthalten in:
Journal of cardiovascular development and disease
| 2024
von
Russo, V.
|
Antonini, G.
|
Massa, R.
| +10
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4
In Cis Effect of DMPK Expanded Alleles in Myotonic Dystrophy Type 1 Patients Carrying Variant Repeats at 5' and 3' Ends of the CTG Array
enthalten in:
International journal of molecular sciences
| 2023
von
Visconti, V.
|
Macrì, E.
|
D'Apice, M.
| +4
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5
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations : The Example of RYR1-Related Myopathies
enthalten in:
Genes
| 2023
von
Dosi, C.
|
Rubegni, A.
|
Baldacci, J.
| +39
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6
NEFL-Related Charcot-Marie Tooth Disease due to P440L Mutation in Two Italian Families : Expanding the Phenotype and Defining Modulating Factors
enthalten in:
European neurology
| 2023
von
Petrucci, A.
|
Lispi, L.
|
Garibaldi, M.
| +4
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7
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing
enthalten in:
International journal of molecular sciences
| 2022
von
Marinella, G.
|
Astrea, G.
|
Buchignani, B.
| +29
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8
Characterization of full-length
CNBP
expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing
enthalten in:
bioRxiv.org
| 2022
von
Alfano, M.
|
De Antoni, L.
|
Centofanti, F.
| +9
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9
Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing
enthalten in:
eLife
| 2022
von
Alfano, M.
|
De Antoni, L.
|
Centofanti, F.
| +9
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10
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4 : A Cross-sectional Study by the Italian DAISY Network
enthalten in:
Neurology. Genetics
| 2022
von
Rossi, S.
|
Rubegni, A.
|
Riso, V.
| +46
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6
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