E-LIB Suche - Ergebnisse für: Kollberg, Gittan

1

The phenotypic variability and natural history of NARS2 ass..:

Sofou, Kalliopi ; Kollberg, Gittan ; Hedberg-Oldfors, Carola.
European Journal of Paediatric Neurology. 31 (2021) - p. 31-37 , 2021

Link: https://doi.org/10.1016/..

2

Functional analysis of a novel POLγA mutation associated wi..:

Darin, Niklas ; Siibak, Triinu ; Peter, Bradley...
Neuromuscular Disorders. 31 (2021) 4 - p. 348-358 , 2021

Link: https://doi.org/10.1016/..

3

Phenotypic spectrum and clinical course of single large-sca..:

Björkman, Kristoffer ; Vissing, John ; Østergaard, Elsebet...
Journal of Medical Genetics. 60 (2021) 1 - p. 65-73 , 2021

Link: https://doi.org/10.1136/..

4

Expression pattern of mitochondrial respiratory chain enzym..:

Roos, Sara ; Hedberg‐Oldfors, Carola ; Visuttijai, Kittichate...
Brain Pathology. 32 (2021) 4 - p. , 2021

Link: https://doi.org/10.1111/..

5

TANGO2 deficiency as a cause of neurodevelopmental delay wi..:

Jennions, Elizabeth ; Hedberg‐Oldfors, Carola ; Berglund, Anna‐Karin...
Journal of Inherited Metabolic Disease. 42 (2019) 5 - p. 898-908 , 2019

Link: https://doi.org/10.1002/..

6

Prenatal onset of mitochondrial disease is associated with ..:

Sofou, Kalliopi ; Hedberg-Oldfors, Carola ; Kollberg, Gittan...
Mitochondrion. 47 (2019) - p. 76-81 , 2019

Link: https://doi.org/10.1016/..

7

Mitochondrial complex IV deficiency caused by a novel frame..:

Roos, Sara ; Sofou, Kalliopi ; Hedberg-Oldfors, Carola...
European Journal of Human Genetics. 27 (2018) 2 - p. 331-335 , 2018

Link: https://doi.org/10.1038/..

8

Identification of a large intronic transposal insertion in ..:

Tarailo-Graovac, Maja ; Drögemöller, Britt I. ; Wasserman, Wyeth W....
Orphanet Journal of Rare Diseases. 12 (2017) 1 - p. , 2017

Link: https://doi.org/10.1186/..

9

Elisabeth Holme:

Kollberg, Gittan ; Clayton, Peter
Journal of Inherited Metabolic Disease. 38 (2015) 6 - p. 1159-1160 , 2015

Link: https://doi.org/10.1007/..

10

Broad phenotypic variability in patients with complex I def..:

Björkman, Kristoffer ; Sofou, Kalliopi ; Darin, Niklas...
Mitochondrion. 21 (2015) - p. 33-40 , 2015

Link: https://doi.org/10.1016/..

11

Whole exome sequencing reveals mutations inNARS2andPARS2, e..:

Sofou, Kalliopi ; Kollberg, Gittan ; Holmström, Maria...
Molecular Genetics & Genomic Medicine. 3 (2014) 1 - p. 59-68 , 2014

Link: https://doi.org/10.1002/..

12

Phenotypic and genotypic variability in Alpers syndrome:

Sofou, Kalliopi ; Moslemi, Ali-Reza ; Kollberg, Gittan...
European Journal of Paediatric Neurology. 16 (2012) 4 - p. 379-389 , 2012

Link: https://doi.org/10.1016/..

13

Deoxyribonucleotide Metabolism in Cycling and Resting Human..:

Pontarin, Giovanna ; Ferraro, Paola ; Rampazzo, Chiara...
Journal of Biological Chemistry. 286 (2011) 13 - p. 11132-11140 , 2011

Link: https://doi.org/10.1074/..

14

Transient restoration of succinate dehydrogenase activity a..:

Kollberg, Gittan ; Melberg, Atle ; Holme, Elisabeth.
Neuromuscular Disorders. 21 (2011) 2 - p. 115-120 , 2011

Link: https://doi.org/10.1016/..

15

Clinical manifestation and a new ISCU mutation in iron–sulp..:

Kollberg, Gittan ; Tulinius, Már ; Melberg, Atle...
Brain. 132 (2009) 8 - p. 2170-2179 , 2009

Link: https://doi.org/10.1093/..