E Jennions

Affiliations

Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden; Region Västra Götaland, Sahlgrenska University Hospital, Department of Pediatrics, Gothenburg, Sweden.

Publications (5)

Drug-induced hyperthermia with rhabdomyolysis in CLN3 disease.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Avec: A Savvidou , E Jennions , S Wikström , M Olsson-Engman , K Sofou , N Darin

Abnormal expression of myosin heavy chains in early postnatal stages of spinal muscular atrophy type I at single fibre level.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

Avec: Carola Hedberg-Oldfors , Elizabeth Jennions , Kittichate Visuttijai , Anders Oldfors

A novel homozygous pathogenic missense variant in COX6B1: Further delineation of the phenotype.

American journal of medical genetics. Part A

Avec: E Jennions , M Olsson-Engman , K Visuttijai , Å Wiksell , N Fluriach Dominguez , G Kollberg , A Oldfors , C Hedberg-Oldfors

TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism.

Journal of inherited metabolic disease

Avec: Elizabeth Jennions , Carola Hedberg-Oldfors , Anna-Karin Berglund , Gittan Kollberg , Carl-Johan Törnhage , Erik A Eklund , Anders Oldfors , Patrick Verloo , Arnaud V Vanlander , Linda De Meirleir , Sara Seneca , Fredrik H Sterky , Niklas Darin

The Swedish COG6-CDG experience and a comprehensive literature review.

JIMD reports

Avec: Zhi-Jie Xia , Bobby G Ng , Elizabeth Jennions , Maria Blomqvist , Anneli Sandqvist Wiklund , Carola Hedberg-Oldfors , Carlos Rodriguez Gonzalez , Hudson H Freeze , Sofia Ygberg , Erik A Eklund

Réseau de co-auteurs

Carola Hedberg-Oldfors 3 collaborations

Elizabeth Jennions 3 collaborations

M Olsson-Engman 2 collaborations

Anders Oldfors 2 collaborations

Erik A Eklund 2 collaborations

A Savvidou 1 collaboration

S Wikström 1 collaboration

K Sofou 1 collaboration

N Darin 1 collaboration

Kittichate Visuttijai 1 collaboration

K Visuttijai 1 collaboration

Å Wiksell 1 collaboration

N Fluriach Dominguez 1 collaboration

G Kollberg 1 collaboration

A Oldfors 1 collaboration

C Hedberg-Oldfors 1 collaboration

Anna-Karin Berglund 1 collaboration

Gittan Kollberg 1 collaboration

Carl-Johan Törnhage 1 collaboration

Patrick Verloo 1 collaboration

Arnaud V Vanlander 1 collaboration

Linda De Meirleir 1 collaboration

Sara Seneca 1 collaboration

Fredrik H Sterky 1 collaboration

Niklas Darin 1 collaboration

Zhi-Jie Xia 1 collaboration

Bobby G Ng 1 collaboration

Maria Blomqvist 1 collaboration

Anneli Sandqvist Wiklund 1 collaboration

Carlos Rodriguez Gonzalez 1 collaboration

Hudson H Freeze 1 collaboration

Sofia Ygberg 1 collaboration