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PubPharm (146)
1
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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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:
medRxiv : the preprint server for health sciences
| 2024
von
Foley, A.
|
Bolduc, V.
|
Guirguis, F.
| +66
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3
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy : A Randomized Controlled Trial
enthalten in:
Neurology
| 2024
von
Dang, U.
|
Damsker, J.
|
Guglieri, M.
| +41
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4
Muscle microRNAs in the cerebrospinal fluid predict clinical response to nusinersen therapy in type II and type III spinal muscular atrophy patients
enthalten in:
bioRxiv.org
| 2023
von
Magen, I.
|
Aharoni, S.
|
Yacovzada, N.
| +9
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5
Real-Life Outcome After Gene Replacement Therapy for Spinal Muscular Atrophy : A Multicenter Experience
enthalten in:
Pediatric neurology
| 2023
von
Tokatly Latzer, I.
|
Sagi, L.
|
Lavi, R.
| +8
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6
Pulmonary function tests for evaluating the severity of Duchenne muscular dystrophy disease
enthalten in:
Acta paediatrica (Oslo, Norway : 1992)
| 2023
von
Levine, H.
|
Goldfarb, I.
|
Katz, J.
| +6
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7
Evaluation of sputum cultures in children with spinal Muscular atrophy
enthalten in:
Respiratory medicine
| 2023
von
Levine, H.
|
Nevo, Y.
|
Katz, J.
| +9
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8
Adeno-associated virus serotype 9 antibody titers in patients with SMA pre-screened for treatment with onasemnogene abeparvovec -routine care evidence
enthalten in:
Gene therapy
| 2023
von
Aharoni, S.
|
Bistritzer, J.
|
Levine, H.
| +6
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9
Pulmonary function tests for evaluating the severity of Duchenne muscular dystrophy disease
enthalten in:
Acta Paediatrica
| 2023
von
Levine, H.
|
Goldfarb, I.
|
Katz, J.
| +6
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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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146
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Zeitschriftentitel
19
Journal of child neurology
17
Pediatric neurology
9
Muscle & nerve
8
Neuromuscular disorders : NMD
6
Neurology
5
Neuromuscular disorders
4
European journal of paediatric neurology
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Human molecular genetics
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American journal of human genetics
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Brain : a journal of neurology
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bioRxiv.org
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2
Blood
2
Cellular signalling
2
Developmental disabilities research reviews
2
European Journal of Neurology
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85
Journal Article
42
Research Support, Non-U.S. Gov't
19
Research Support, N.I.H., Extramural
15
Multicenter Study
10
Case Reports
10
Research Support, U.S. Gov't, Non-P.H.S.
9
Duchenne muscular dystrophy
9
Glucocorticoids
7
Randomized Controlled Trial
6
Biomarkers
6
Dystrophin
6
Laminin
5
Klinische Studie
5
Codon, Nonsense
5
K16AME9I3V
5
Oxadiazoles
5
Prednisone
5
VB0R961HZT
5
ataluren
5
laminin alpha 2
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Erscheinungszeitraum
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1900-1999
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Englisch
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