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topic_facet:"Research Support, N.I.H., Extramural"
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PubPharm (24)
1
Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome
enthalten in:
Annals of clinical and translational neurology
| 2023
von
Tayebi, N.
|
Leon-Ricardo, B.
|
McCall, K.
| +12
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2
Visual memory failure presages conversion to MELAS phenotype
enthalten in:
Annals of clinical and translational neurology
| 2022
von
Leaffer, E.
|
De Vivo, D.
|
Engelstad, K.
| +6
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3
Leukocyte cytokine responses in adult patients with mitochondrial DNA defects
enthalten in:
Journal of molecular medicine (Berlin, Germany)
| 2022
von
Karan, K.
|
Trumpff, C.
|
Cross, M.
| +5
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4
Regulatory environment for novel therapeutic development in mitochondrial diseases
enthalten in:
Journal of inherited metabolic disease
| 2021
von
Hirano, M.
|
Berardo, A.
|
Barca, E.
| +6
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5
Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity
enthalten in:
The Journal of clinical investigation
| 2021
von
Sharma, R.
|
Reinstadler, B.
|
Engelstad, K.
| +14
CommentIn: J Clin Invest. 2021 Jan 19;131(2):. - PMID 33463543
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6
Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein
enthalten in:
Nature communications
| 2017
von
Tang, M.
|
Gao, G.
|
Rueda, C.
| +17
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7
Attitudes toward prevention of mtDNA-related diseases through oocyte mitochondrial replacement therapy
enthalten in:
Human reproduction (Oxford, England)
| 2016
von
Engelstad, K.
|
Sklerov, M.
|
Kriger, J.
| +8
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8
Diagnosing Glucose Transporter 1 Deficiency at Initial Presentation Facilitates Early Treatment
enthalten in:
The Journal of pediatrics
| 2016
von
Akman, C.
|
Yu, J.
|
Alter, A.
| +2
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9
Topography of brain glucose hypometabolism and epileptic network in glucose transporter 1 deficiency
enthalten in:
Epilepsy research
| 2015
von
Akman, C.
|
Provenzano, F.
|
Wang, D.
| +6
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10
Cerebral metabolic abnormalities in A3243G mitochondrial DNA mutation carriers
enthalten in:
Neurology
| 2014
von
Weiduschat, N.
|
Kaufmann, P.
|
Mao, X.
| +5
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Thema: Research Support, N.I.H., Extramural
Medienart
24
Aufsätze
21
E-Artikel
21
E-Ressourcen
3
Gedruckte Aufsätze
Zeitschriftentitel
4
Archives of neurology
3
Annals of neurology
2
Annals of clinical and translational neurology
1
American journal of medical genetics. Part A
1
Current neurology and neuroscience reports
1
Epilepsy research
1
Human molecular genetics
1
Human reproduction (Oxford, England)
1
Journal of inherited metabolic disease
1
Journal of molecular medicine (Berlin, Germany)
1
Journal of the neurological sciences
1
Movement disorders : official journal of the Mo...
1
Nature communications
1
Neurobiology of disease
1
Neurology
1
Pediatric research
1
The Journal of clinical investigation
1
The Journal of pediatrics
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Thema
24
Journal Article
Research Support, N.I.H., Extramural
20
Research Support, Non-U.S. Gov't
13
Glucose Transporter Type 1
7
DNA, Mitochondrial
7
SLC2A1 protein, human
5
Glucose
5
IY9XDZ35W2
4
Blood Glucose
3
33X04XA5AT
3
Lactic Acid
3
Monosaccharide Transport Proteins
2
146-72-5
2
3-O-Methylglucose
2
Anticonvulsants
2
Review
2
mitochondrial disease
1
0Z5B2CJX4D
1
10300-27-3
1
12133JR80S
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Erscheinungszeitraum
5
2020-
12
2010-2019
7
2000-2009
Erscheinungsjahr(e)
Von:
Bis:
Sprache
24
Englisch
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