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Distelmaier, F
73  Ergebnisse:
Personensuche X
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1

Childhood-onset Leigh syndrome transforming into an episodi..:

Wagner, A. ; Alhaddad, B. ; Ahting, U....
European Journal of Paediatric Neurology.  21 (2017)  - p. e128-e129 , 2017
Link: https://doi.org/10.1016/..
 
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2

Paraneoplastic limbic encephalitis with SOX1 and PCA2 antib..:

Kunstreich, M. ; Kreth, J.H. ; Oommen, P.T....
European Journal of Paediatric Neurology.  21 (2017)  4 - p. 661-665 , 2017
Link: https://doi.org/10.1016/..
 
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3

PP04.10 – 2544: Trichothiodystrophy presenting with cardiom..:

Harmsen, S. ; Distelmaier, F. ; Frank, J...
European Journal of Paediatric Neurology.  19 (2015)  - p. S44 , 2015
Link: https://doi.org/10.1016/..
 
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4

Neuromyelitis optica and pregnancy during therapeutic B cel..:

Ringelstein, M ; Harmel, J ; Distelmaier, F...
Multiple Sclerosis Journal.  19 (2013)  11 - p. 1544-1547 , 2013
Link: https://doi.org/10.1177/..
 
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5

Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a ..:

Janssen, R. J.R.J. ; Distelmaier, F. ; Smeets, R....
Human Molecular Genetics.  18 (2009)  18 - p. 3365-3374 , 2009
Link: https://doi.org/10.1093/..
 
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6

Mitochondrial complex I deficiency: from organelle dysfunct..:

Distelmaier, F. ; Koopman, W. J.H. ; van den Heuvel, L. P....
Brain.  132 (2008)  4 - p. 833-842 , 2008
Link: https://doi.org/10.1093/..
 
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7

Mitochondrial Ca2+ homeostasis in human NADH:ubiquinone oxi..:

WILLEMS, P ; VALSECCHI, F ; DISTELMAIER, F...
Cell Calcium.  44 (2008)  1 - p. 123-133 , 2008
Link: https://doi.org/10.1016/..
 
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8

Seasonal Variation and Atypical Presentation of Idiopathic ..:

Distelmaier, F ; Tibussek, D ; Schneider, DT.
Cephalalgia.  27 (2007)  11 - p. 1261-1264 , 2007
Link: https://doi.org/10.1111/..
 
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9

Phytanic acid impairs mitochondrial respiration through pro..:

Komen, J. C. ; Distelmaier, F. ; Koopman, W. J. H....
Cellular and Molecular Life Sciences.  64 (2007)  24 - p. 3271-3281 , 2007
Link: https://doi.org/10.1007/..
 
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10

De novo missense variants in RRAGC lead to a fatal mTORopat..:

Reijnders, MRF ; Seibt, A ; Brugger, M...
https://eprints.whiterose.ac.uk/198140/8/De%20novo%20missense%20variants%20in%20RRAGC%20lead%20to%20a%20fatal.pdf.  , 2023
Link: https://eprints.whiteros..
 
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11

Clinical implementation of RNA sequencing for Mendelian dis..:

Yepez V. A ; Gusic M ; Kopajtich R...
info:eu-repo/semantics/altIdentifier/pmid/35379322.  , 2022
Link: https://hdl.handle.net/2..
 
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12

De novo DHDDS variants cause a neurodevelopmental and neuro..:

Galosi, S ; Edani, B.H ; Martinelli, S...
info:eu-repo/semantics/altIdentifier/doi/10.1093/brain/awab299.  , 2022
Link: https://serval.unil.ch/n..
 
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13

The decylTPP mitochondria-targeting moiety lowers electron ..:

Bulthuis, E.P ; Einer, C ; Distelmaier, F...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.freeradbiomed.2022.06.011.  , 2022
Link: https://push-zb.helmholt..
 
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14

Clinical implementation of RNA sequencing for Mendelian dis..:

Yépez, V.A ; Gusic, M ; Kopajtich, R...
info:eu-repo/semantics/altIdentifier/doi/10.1186/s13073-022-01019-9.  , 2022
Link: https://push-zb.helmholt..
 
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15

De novo variants in neurodevelopmental disorders-experience..:

Brunet, T ; Jech, R ; Brugger, M...
info:eu-repo/semantics/altIdentifier/doi/10.1111/cge.13946.  , 2021
Link: https://push-zb.helmholt..
 
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