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SMN1
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publication
Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy
2007 |
Second Faculty of Medicine
publication
Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing
2020 |
First Faculty of Medicine
publication
Genetics of spinal muscular atrophy
2020 |
Second Faculty of Medicine
publication
European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy
2020 |
Second Faculty of Medicine
publication
Current state of spinal muscular atrophy treatment
2022 |
Faculty of Medicine in Hradec Králové
publication
Spinal muscular atrophy affecting the lower limbs, dominantly inherited (SMALED), an example of a non-5q form of the disease
2023 |
Faculty of Medicine in Hradec Králové
publication
Spinal muscular atrophy - actual situation and future steps
2021 |
Second Faculty of Medicine
publication
Spinal muscular atrophy in childhood - actual treatment options
2022 |
Second Faculty of Medicine
publication
Spinal muscular atrophy - diagnostics, therapy, research
+1
2016 |
Second Faculty of Medicine
publication
Therapy of spinal muscular atrophy
2020 |
Second Faculty of Medicine
publication
Molecular etiopathogenesis of spinal muscular atrophy
2002 |
Second Faculty of Medicine
publication
Recombinant Adeno-Associated Virus Serotype 9 Gene Therapy in Spinal Muscular Atrophy
2021 |
Second Faculty of Medicine
publication
Sco2 Protein Deficiency-Based Mitochondrial Encephalomyopathy with the SMA-like Picture of Neurogenic Muscle Atrophy - Case Reports
2010 |
Second Faculty of Medicine
publication
Late-onset Tay-Sachs Disease Can Mimic Spinal Muscular Atrophy Type III - Two Case Reports
2013 |
First Faculty of Medicine