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PubPharm (94)
1
A case report of riboflavin transporter deficiency : A novel heterozygous pathogenic variant in the SLC52A3 gene
enthalten in:
Molecular genetics and metabolism reports
| 2024
von
Tranel, E.
|
McGowan, B.
|
Drackley, A.
| +4
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2
Use of the Assessment of Caregiver Experience with Neuromuscular Disease (ACEND) in Spinal Muscular Atrophy
enthalten in:
Journal of clinical medicine
| 2024
von
Brown, L.
|
Hoffman, K.
|
Corbo-Galli, C.
| +10
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3
Findings from the Longitudinal CINRG Becker Natural History Study
enthalten in:
Journal of neuromuscular diseases
| 2024
von
Clemens, P.
|
Gordish-Dressman, H.
|
Niizawa, G.
| +17
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4
Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy : results from a substudy of the ASPIRO open-label clinical trial
enthalten in:
EBioMedicine
| 2024
von
Lawlor, M.
|
Schoser, B.
|
Margeta, M.
| +36
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5
Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO) : a multinational, open-label, dose-escalation trial
enthalten in:
The Lancet. Neurology
| 2023
von
Shieh, P.
|
Kuntz, N.
|
Dowling, J.
| +30
CommentIn: Lancet Neurol. 2023 Dec;22(12):1089-1091. - PMID 37977700
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6
Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy : 5-year update of the NURTURE study
enthalten in:
Muscle & nerve
| 2023
von
Crawford, T.
|
Swoboda, K.
|
De Vivo, D.
| +23
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7
Healthcare Stakeholder Perspectives on a Value Assessment Approach for Duchenne Muscular Dystrophy Therapies
enthalten in:
bioRxiv.org
| 2023
von
Fischer, R.
|
Furlong, P.
|
Kennedy, A.
| +11
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8
Longitudinal Assessment of Timed Function Tests in Ambulatory Individuals with SMA Treated with Nusinersen
enthalten in:
Journal of neuromuscular diseases
| 2023
von
Krosschell, K.
|
Brown, L.
|
Hoffman, K.
| +9
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9
Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy : Phase I Ascending-Dose Study (STRONG)
enthalten in:
Journal of neuromuscular diseases
| 2023
von
Finkel, R.
|
Darras, B.
|
Mendell, J.
| +14
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10
Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy : A Randomized Clinical Trial
enthalten in:
JAMA neurology
| 2022
von
Guglieri, M.
|
Clemens, P.
|
Perlman, S.
| +43
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Journal of child neurology
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Neurotherapeutics : the journal of the American...
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2
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2
The Lancet. Neurology
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10
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9
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8
Oligonucleotides
8
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7
5Z9SP3X666
7
Duchenne muscular dystrophy
7
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7
nusinersen
6
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6
VB0R961HZT
5
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5
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5
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4
Clinical Trial, Phase II
4
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4
X-linked myotubular myopathy
3
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