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PubPharm (147)
1
Lessons Learned From Clinical Studies in Centronuclear Myopathies : The Patient Perspective-A Qualitative Study
enthalten in:
Clinical therapeutics
| 2024
von
Stinissen, L.
|
Böhm, J.
|
Bouma, S.
| +10
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2
Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants : Therapeutic implications
enthalten in:
HGG advances
| 2024
von
Geist Hauserman, J.
|
Laverty, C.
|
Donkervoort, S.
| +14
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3
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease
enthalten in:
Science translational medicine
| 2024
von
Donkervoort, S.
|
van de Locht, M.
|
Ronchi, D.
| +41
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4
The recurrent deep intronic pseudoexon-inducing variant
COL6A1
c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy
enthalten in:
bioRxiv.org
| 2024
von
Foley, A.
|
Bolduc, V.
|
Guirguis, F.
| +66
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5
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy : Towards clinical trial readiness for splice-modulating therapy
enthalten in:
medRxiv : the preprint server for health sciences
| 2024
von
Foley, A.
|
Bolduc, V.
|
Guirguis, F.
| +66
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6
Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation
enthalten in:
medRxiv : the preprint server for health sciences
| 2024
von
Silverstein, S.
|
Orbach, R.
|
Syeda, S.
| +8
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7
Intrathecal Gene Therapy for Giant Axonal Neuropathy
enthalten in:
The New England journal of medicine
| 2024
von
Bharucha-Goebel, D.
|
Todd, J.
|
Saade, D.
| +100
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8
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy
enthalten in:
Annals of clinical and translational neurology
| 2024
von
Donkervoort, S.
|
Mohassel, P.
|
O'Leary, M.
| +121
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9
Rycal S48168 (ARM210) for RYR1-related myopathies : a phase one, open-label, dose-escalation trial
enthalten in:
EClinicalMedicine
| 2024
von
Todd, J.
|
Lawal, T.
|
Chrismer, I.
| +21
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10
Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis
enthalten in:
Journal of neurology, neurosurgery, and psychiatry
| 2024
von
Dohrn, M.
|
Beijer, D.
|
Lone, M.
| +17
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Acta neuropathologica
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Neurology
9
American journal of human genetics
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Nature communications
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Neuromuscular disorders : NMD
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Annals of neurology
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Brain : a journal of neurology
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Annals of clinical and translational neurology
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Annals of Clinical and Translational Neurology
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37
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20
Case Reports
14
Collagen Type VI
7
Review
5
Muscular dystrophy
4
146888-27-9
4
ACTN2
4
Alpha-actinin-2
4
COL6A2 protein, human
4
Cerebellar atrophy
4
Col6a1 protein, human
4
Congenital myopathies
4
Congenital myopathy
4
Core myopathy
4
Dystroglycans
4
EC 3.6.4.2
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