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PubPharm (37)
1
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
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2
Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease
enthalten in:
Molecular genetics and metabolism
| 2023
von
Chen, W.
|
Rehsi, P.
|
Thompson, K.
| +8
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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
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4
Screening and prevalence of cardiac abnormalities on electro- and echocardiography in a large cohort of patients with mitochondrial disease
enthalten in:
Molecular genetics and metabolism
| 2022
von
Hendrix, C.
|
van den Heuvel, F.
|
Rodwell, L.
| +4
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5
Time to harmonize mitochondrial syndrome nomenclature and classification : A consensus from the North American Mitochondrial Disease Consortium (NAMDC)
enthalten in:
Molecular genetics and metabolism
| 2022
von
Emmanuele, V.
|
Ganesh, J.
|
Vladutiu, G.
| +14
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6
A retrospective cohort study exploring the association between different mitochondrial diseases and hearing loss
enthalten in:
Molecular genetics and metabolism
| 2022
von
van Kempen, C.
|
Beynon, A.
|
Smits, J.
| +1
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7
Feasible and clinical relevant outcome measures for adults with mitochondrial disease
enthalten in:
Molecular genetics and metabolism
| 2022
von
Bergs, P.
|
Maas, D.
|
Janssen, M.
| +1
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8
Stroke and stroke-like episodes in inborn errors of metabolism : Pathophysiological and clinical implications
enthalten in:
Molecular genetics and metabolism
| 2022
von
Mastrangelo, M.
|
Ricciardi, G.
|
Giordo, L.
| +3
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9
FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children
enthalten in:
Molecular genetics and metabolism
| 2022
von
Riley, L.
|
Nafisinia, M.
|
Menezes, M.
| +12
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10
Variants in the MIPEP gene presenting with complex neurological phenotype without cardiomyopathy, impair OXPHOS protein maturation and lead to a reduced OXPHOS abundance in patient cells
enthalten in:
Molecular genetics and metabolism
| 2021
von
Pulman, J.
|
Ruzzenente, B.
|
Horak, M.
| +5
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Zeitschrift: Molecular genetics and metabolism
Medienart
37
Aufsätze
36
E-Artikel
36
E-Ressourcen
1
Gedruckte Aufsätze
Zeitschriftentitel
Molecular genetics and metabolism
Thema
35
Journal Article
25
Mitochondrial disease
20
Research Support, Non-U.S. Gov't
11
Review
9
Mitochondrial diseases
9
Research Support, N.I.H., Extramural
8
DNA, Mitochondrial
8
Mitochondrial Proteins
5
Case Reports
5
Citrulline
4
31C4KY9ESH
4
Arginine
4
EC 7.1.1.2
4
Electron Transport Complex I
4
Lactic acidosis
4
Leigh syndrome
4
Nitric Oxide
3
94ZLA3W45F
3
Carnitine
3
MELAS
Alle anzeigen ...
weniger ...
Erscheinungszeitraum
14
2020-
23
2010-2019
Erscheinungsjahr(e)
Von:
Bis:
Sprache
37
Englisch
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