Suchergebnisse - "Smith, Edward C"

PubPharm (141)

1

The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt

enthalten in: HGG advances | 2024

von Cocanougher, B. | Liu, S. | Francescatto, L. | +10

2

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

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

4

Two years of newborn screening for Duchenne muscular dystrophy as a part of the statewide Early Check research program in North Carolina

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

von Kucera, K. | Boyea, B. | Migliore, B. | +9

5

Screening data from 19 patients with late-onset Pompe disease for a phase I clinical trial of AAV8 vector-mediated gene therapy

enthalten in: JIMD reports | 2023

von Hannah, W. | Case, L. | Smith, E. | +4

6

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2023

von Shashi, V. | Schoch, K. | Ganetzky, R. | +125

7

Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1

enthalten in: Orphanet journal of rare diseases | 2023

von Schoch, K. | McConkie-Rosell, A. | Walley, N. | +7

8

Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1

enthalten in: Orphanet journal of rare diseases | 2023

von Schoch, K. | McConkie-Rosell, A. | Walley, N. | +6

9

Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1

enthalten in: Orphanet journal of rare diseases | 2023

von Schoch, K. | McConkie-Rosell, A. | Walley, N. | +6

10

Phase I study of liver depot gene therapy in late-onset Pompe disease

enthalten in: Molecular therapy : the journal of the American Society of Gene Therapy | 2023

von Smith, E. | Hopkins, S. | Case, L. | +12

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