Suchergebnisse - "Saade, Dimah"

PubPharm (37)

1

PIEZO2 in somatosensory neurons controls gastrointestinal transit

enthalten in: bioRxiv.org | 2024

von Servin-Vences, M. | Lam, R. | Koolen, A. | +9

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

3

The recurrent deep intronic pseudoexon-inducing variantCOL6A1c.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

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: medRxiv : the preprint server for health sciences | 2024

von Foley, A. | Bolduc, V. | Guirguis, F. | +66

5

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

6

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2024

von Jeffries, L. | Mis, E. | McWalter, K. | +149

7

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

8

PIEZO2‐dependent rapid pain system in humans and mice

enthalten in: bioRxiv.org | 2023

von Bouchatta, O. | Brodzki, M. | Manouze, H. | +26

9

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

10

PIEZO2-dependent rapid pain system in humans and mice

enthalten in: bioRxiv : the preprint server for biology | 2023

von Brodzki, M. | Manouze, H. | Carballo, G. | +25