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PubPharm (167)
11
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis : new splicing events
enthalten in:
Journal of medical genetics
| 2023
von
Segarra-Casas, A.
|
Domínguez-González, C.
|
Hernández-Laín, A.
| +12
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12
Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA)
enthalten in:
Journal of neurology
| 2023
von
Oskoui, M.
|
Day, J.
|
Deconinck, N.
| +20
ErratumIn: J Neurol. 2023 Apr 18;:. - PMID 37071150
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13
Correction to : Two‑year efficacy and safety of risdiplam in patients with type 2 or non‑ambulant type 3 spinal muscular atrophy (SMA)
enthalten in:
Journal of neurology
| 2023
von
Oskoui, M.
|
Day, J.
|
Deconinck, N.
| +20
ErratumFor: J Neurol. 2023 May;270(5):2531-2546. - PMID 36735057
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14
Correction to: Two‑year efficacy and safety of risdiplam in patients with type 2 or non‑ambulant type 3 spinal muscular atrophy (SMA)
enthalten in:
Journal of neurology
| 2023
von
Oskoui, M.
|
Day, J.
|
Deconinck, N.
| +19
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15
Correction to: Two‑year efficacy and safety of risdiplam in patients with type 2 or non‑ambulant type 3 spinal muscular atrophy (SMA)
enthalten in:
Journal of neurology
| 2023
von
Oskoui, M.
|
Day, J.
|
Deconinck, N.
| +19
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16
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy
enthalten in:
Acta neuropathologica
| 2023
von
Nascimento, A.
|
Bruels, C.
|
Donkervoort, S.
| +31
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17
Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy
enthalten in:
International journal of molecular sciences
| 2023
von
Codina, A.
|
Roldán, M.
|
Natera-de Benito, D.
| +11
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18
Decoding Duchenne muscular dystrophy transcriptome to single nuclei level reveals clinical-genetic correlations
enthalten in:
bioRxiv.org
| 2023
von
Suárez-Calvet, X.
|
Fernández-Simón, E.
|
Natera, D.
| +18
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19
Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants
enthalten in:
Annals of clinical and translational neurology
| 2023
von
Natera-de Benito, D.
|
Olival, J.
|
Garcia-Cabau, C.
| +11
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20
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy
enthalten in:
Acta neuropathologica
| 2023
von
Nascimento, A.
|
Bruels, C.
|
Donkervoort, S.
| +31
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7
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7
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7
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7
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7
Thymidine Kinase
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thymidine kinase 2
6
Duchenne muscular dystrophy
6
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4
Collagen Type VI
4
Dok-7
4
Fluoxetine
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