Suchergebnisse - "Zolkipli-Cunningham, Zarazuela"

PubPharm (16)

1

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

2

258th ENMC international workshop Leigh syndrome spectrum : genetic causes, natural history and preparing for clinical trials 25-27 March 2022, Hoofddorp, Amsterdam, The Netherlands

enthalten in: Neuromuscular disorders : NMD | 2023

von Diodato, D. | Schiff, M. | Cohen, B. | +37

3

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

4

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

5

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

6

Understanding the phenotypic spectrum of ASXL-related disease : Ten cases and a review of the literature

enthalten in: American journal of medical genetics. Part A | 2021

von Cuddapah, V. | Dubbs, H. | Adang, L. | +9

7

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

enthalten in: Brain : a journal of neurology | 2021

von Pagnamenta, A. | Kaiyrzhanov, R. | Zou, Y. | +133

CommentIn: Brain. 2021 Mar 3;144(2):362-365. - PMID 33693694

8

Metabolic and behavioral features of acute hyperpurinergia and the maternal immune activation mouse model of autism spectrum disorder

enthalten in: PloS one | 2021

von Zolkipli-Cunningham, Z. | Naviaux, J. | Nakayama, T. | +8

9

Pediatric Leigh Syndrome : Neuroimaging Features and Genetic Correlations

enthalten in: Annals of neurology | 2020

von Alves, C. | Teixeira, S. | Martin-Saavedra, J. | +10

CommentIn: Ann Neurol. 2021 Mar;89(3):631-633. - PMID 33368550

10

Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy : MOTOR trial

enthalten in: Neurology | 2020

von Madsen, K. | Buch, A. | Cohen, B. | +14