Suchergebnisse - "Shieh, Perry B"

PubPharm (11)

1

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

2

Health related quality of life in young, steroid-naïve boys with Duchenne muscular dystrophy

enthalten in: Neuromuscular disorders : NMD | 2021

von Campbell, C. | McColl, E. | McDermott, M. | +45

3

Long-term efficacy and safety of dichlorphenamide for treatment of primary periodic paralysis

enthalten in: Muscle & nerve | 2021

von Sansone, V. | Johnson, N. | Hanna, M. | +5

4

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

enthalten in: Genome medicine | 2021

von Mannucci, I. | Dang, N. | Huber, H. | +62

5

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2020

von Lee, H. | Huang, A. | Wang, L. | +29

6

Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4

enthalten in: Neurology | 2019

von Elia, N. | Palmio, J. | Castañeda, M. | +7

CommentIn: Neurology. 2019 Mar 26;92(13):591-592. - PMID 30824555

7

Review of the Diagnosis and Treatment of Periodic Paralysis

enthalten in: Muscle & nerve | 2018

von Statland, J. | Fontaine, B. | Hanna, M. | +8

8

Clinical exome sequencing for genetic identification of rare Mendelian disorders

enthalten in: JAMA | 2014

von Lee, H. | Deignan, J. | Dorrani, N. | +18

CommentIn: JAMA. 2014 Nov 12;312(18):1865-7. - PMID 25326641

9

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

enthalten in: Neurology | 2013

von Ceyhan-Birsoy, O. | Agrawal, P. | Hidalgo, C. | +15

CommentIn: Neurology. 2013 Oct 1;81(14):1189-90. - PMID 23975873

10

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

enthalten in: Nature genetics | 2012

von Wan, J. | Yourshaw, M. | Mamsa, H. | +23