Suchergebnisse - "Zolkipli-Cunningham, Zarazuela"

PubPharm (27)

1

Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3

enthalten in: Journal of neuromuscular diseases | 2024

von Wolfe, A. | Stimpson, G. | Ramsey, D. | +32

2

Bridging the clinical-research gap : Harnessing an electronic data capture, integration, and visualization platform to systematically assess prospective patient-reported outcomes in mitochondrial medicine

enthalten in: Molecular genetics and metabolism | 2024

von MacMullen, L. | George-Sankoh, I. | Stanley, K. | +5

3

Optimized Nutrition in Mitochondrial Disease Correlates to Improved Muscle Fatigue, Strength, and Quality of Life

enthalten in: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics | 2023

von DiVito, D. | Wellik, A. | Burfield, J. | +18

4

Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum

enthalten in: Annals of neurology | 2023

von McCormick, E. | Keller, K. | Taylor, J. | +45

5

2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants

enthalten in: Journal of clinical medicine | 2023

von Stimpson, G. | Ramsey, D. | Wolfe, A. | +30

6

Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease

enthalten in: Molecular genetics and metabolism | 2022

von Elander, J. | McCormick, E. | Värendh, M. | +8

7

The effects of a motorized passive simulated jogging device on descent of the arterial pulse waveform dicrotic notch : A single arm placebo-controlled cross-over trial

enthalten in: Physiological reports | 2022

von Adams, J. | Lopez, J. | Nadkarni, V. | +3

8

Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease

enthalten in: Molecular genetics and metabolism | 2022

von Wang, J. | Balciuniene, J. | Diaz-Miranda, M. | +16

9

Development of a Mitochondrial Myopathy-Composite Assessment Tool

enthalten in: JCSM clinical reports | 2021

von Flickinger, J. | Fan, J. | Wellik, A. | +19

10

Nusinersen Treatment in Adults With Spinal Muscular Atrophy

enthalten in: Neurology. Clinical practice | 2021

von Duong, T. | Wolford, C. | McDermott, M. | +15