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Karaa, Amel
117
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Online (117)
Mediatypes
Articles (Online) (61)
Bookchapter (Online) (1)
OpenAccess-fulltext (55)
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?
1
P017: Phenotypes of adults with MPS1 pseudodeficiency varia..:
O'Grady, Lauren
;
Gold, Nina
;
Karaa, Amel
...
Genetics in Medicine Open. 2 (2024) - p. 100894 , 2024
Link:
https://doi.org/10.1016/..
?
2
Characterization of Fatigue in Primary Mitochondrial Myopat..:
Karaa, Amel
;
Johnson, Nathan
;
Clarkson, Ian
...
Neurology Clinical Practice. 14 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1212/..
?
3
T cell activation contributes to purifying selection agains..:
Walker, Melissa A.
;
Li, Shuqiang
;
Livak, Kenneth J.
...
Journal of Inherited Metabolic Disease. , 2024
Link:
https://doi.org/10.1002/..
?
4
Gastrointestinal Sensory Neuropathy and Dysmotility in Fabr..:
Bar, Nir
;
Karaa, Amel
;
Kiser, Katheryn
..
Clinical and Translational Gastroenterology. 14 (2023) 12 - p. e00633 , 2023
Link:
https://doi.org/10.14309..
?
5
Clinical outcomes among young patients with Fabry disease w..:
Hopkin, Robert J.
;
Cabrera, Gustavo H.
;
Jefferies, John L.
...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 106967 , 2023
Link:
https://doi.org/10.1016/..
?
6
Optimized Nutrition in Mitochondrial Diseases Correlates wi..:
Saneto, Russell P.
;
Karaa, Amel
Neurotherapeutics. 20 (2023) 6 - p. 1694-1695 , 2023
Link:
https://doi.org/10.1007/..
?
7
The evolution of the mitochondrial disease diagnostic odyss..:
Thompson, John L. P.
;
Karaa, Amel
;
Pham, Hung
...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
?
8
Efficacy and Safety of Elamipretide in Individuals With Pri..:
Karaa, Amel
;
Bertini, Enrico
;
Carelli, Valerio
...
Neurology. 101 (2023) 3 - p. , 2023
Link:
https://doi.org/10.1212/..
?
9
Phenotypes of undiagnosed adults with actionable OTC and GL..:
Gold, Jessica I.
;
Madhavan, Sarina
;
Park, Joseph
...
Human Genetics and Genomics Advances. 4 (2023) 4 - p. 100226 , 2023
Link:
https://doi.org/10.1016/..
?
10
Clinical trials in mitochondrial diseases:
, In:
Mitochondrial Diseases; Handbook of Clinical Neurology
,
Karaa, Amel
;
Klopstock, Thomas
- p. 229-250 , 2023
Link:
https://doi.org/10.1016/..
?
11
Correction to: The evolution of the mitochondrial disease d..:
Thompson, John L. P.
;
Karaa, Amel
;
Pham, Hung
...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
?
12
Head-to-head trial of pegunigalsidase alfa versus agalsidas..:
Wallace, Eric L
;
Goker-Alpan, Ozlem
;
Wilcox, William R
...
Journal of Medical Genetics. 61 (2023) 6 - p. 520-530 , 2023
Link:
https://doi.org/10.1136/..
?
13
Psychometric performance of the Primary Mitochondrial Myopa..:
Gwaltney, Chad
;
Stokes, Jonathan
;
Aiudi, Anthony
...
Journal of Patient-Reported Outcomes. 6 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1186/..
?
14
Genetic subgroup learnings from MMPOWER-3 trial: Elamipreti..:
Karaa, Amel
;
Mancuso, Michelangelo
;
Cohen, Bruce
...
Biochimica et Biophysica Acta (BBA) - Bioenergetics. 1863 (2022) - p. 148868 , 2022
Link:
https://doi.org/10.1016/..
?
15
The experiences and support needs of siblings of people wit..:
Grant, Nathan
;
Von Handorf, Rebecca
;
Karaa, Amel
.
Molecular Genetics and Metabolism. 132 (2021) 2 - p. S45-S46 , 2021
Link:
https://doi.org/10.1016/..
1-15