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PubPharm (76)
1
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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2
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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3
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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4
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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5
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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6
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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7
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis
enthalten in:
Journal of neurology, neurosurgery, and psychiatry
| 2024
von
Syeda, S.
|
Lone, M.
|
Mohassel, P.
| +23
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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.
| +20
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9
A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy
enthalten in:
Annals of clinical and translational neurology
| 2023
von
Mohassel, P.
|
Yun, P.
|
Syeda, S.
| +19
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10
Collagen type VI regulates TGFβ bioavailability in skeletal muscle
enthalten in:
bioRxiv.org
| 2023
von
Mohassel, P.
|
Rooney, J.
|
Zou, Y.
| +11
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Annals of clinical and translational neurology
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16
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13
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7
Autoantibodies
6
Case Reports
6
EC 2.3.1.50
6
Review
6
Serine C-Palmitoyltransferase
5
Sphingolipids
4
EC 1.1.1.-
4
Hydroxymethylglutaryl CoA Reductases
4
Muscle Proteins
4
SPTLC1 protein, human
4
myositis
3
452VLY9402
3
Collagen Type VI
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Congenital muscular dystrophies
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