Suchergebnisse - "Karaa, Amel"

PubPharm (127)

1

T cell activation contributes to purifying selection against the MELAS-associated m.3243A>G pathogenic variant in blood

enthalten in: Journal of inherited metabolic disease | 2024

von Walker, M. | Li, S. | Livak, K. | +3

2

Characterization of Fatigue in Primary Mitochondrial Myopathies : Findings From a Qualitative Interview Study

enthalten in: Neurology. Clinical practice | 2024

von Karaa, A. | Johnson, N. | Clarkson, I. | +3

3

Gastrointestinal Sensory Neuropathy and Dysmotility in Fabry Disease : Presentations and Effect on Patient's Quality of Life

enthalten in: Clinical and translational gastroenterology | 2023

von Bar, N. | Karaa, A. | Kiser, K. | +2

4

Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function : results from the 2-year randomised phase III BALANCE study

enthalten in: Journal of medical genetics | 2023

von Wallace, E. | Goker-Alpan, O. | Wilcox, W. | +33

5

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

6

Phenotypes of undiagnosed adults with actionable OTC and GLA variants

enthalten in: HGG advances | 2023

von Gold, J. | Madhavan, S. | Park, J. | +11

7

Optimized Nutrition in Mitochondrial Diseases Correlates with Improved Muscle Fatigue, Strength, and Quality of Life : You Are What You Eat, or Are You?

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

von Saneto, R. | Karaa, A.

8

Optimized Nutrition in Mitochondrial Diseases Correlates with Improved Muscle Fatigue, Strength, and Quality of Life: You Are What You Eat, or Are You?

enthalten in: NeuroRX | 2023

von Saneto, R. | Karaa, A.

9

Correction to : The evolution of the mitochondrial disease diagnostic odyssey

enthalten in: Orphanet journal of rare diseases | 2023

von Thompson, J. | Karaa, A. | Pham, H. | +12

ErratumFor: Orphanet J Rare Dis. 2023 Jun 22;18(1):157. - PMID 37349818

10

Correction to: The evolution of the mitochondrial disease diagnostic odyssey

enthalten in: Orphanet journal of rare diseases | 2023

von Thompson, J. | Karaa, A. | Pham, H. | +12

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