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Angelica Nordin

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Affiliated as physician at Department of Medical Biosciences Section: Medical and Clinical Genetics

By 6M, vån 4, Sjukhusområdet Umeå universitet, 901 85 Umeå

Small striatal huntingtin inclusions in patients with motor neuron disease with reduced penetrance and intermediate HTT gene expansions

Human Molecular Genetics, Oxford University Press 2024, Vol. 33, (22) : 1966-1974

Roos, Anna-Karin; Stenvall, Erica; Kockum, Emmy Skelton; et al.

Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis

Neurobiology of Aging, Elsevier 2023, Vol. 122 : 76-87

Tazelaar, Gijs H.P.; Hop, Paul J.; Seelen, Meinie; et al.

De novo mutations in SOD1 are a cause of ALS

Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group Ltd 2022, Vol. 93 : 201-206

Müller, Kathrin; Oh, Ki-Wook; Nordin, Angelica; et al.

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Nature Genetics, Nature Publishing Group 2021, Vol. 53, (12) : 1636-1648

van Rheenen, Wouter; van der Spek, Rick A. A.; Bakker, Mark K.; et al.

PTBP1 acts as a dominant repressor of the aberrant tissue-specific splicing of ISCU in hereditary myopathy with lactic acidosis

Molecular Genetics & Genomic Medicine, John Wiley & Sons 2018, Vol. 6, (6) : 887-897

Rawcliffe, Denise F. R.; Österman, Lennart; Nordin, Angelica; et al.

Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening study

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Vol. 18, (3-4) : 256-264

Nordin, Angelica; Akimoto, Chizuru; Wuolikainen, Anna; et al.

Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD

Human Molecular Genetics, Vol. 24, (11) : 3133-3142

Nordin, Angelica; Akimoto, Chizuru; Wuolikainen, Anna; et al.

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

Journal of Medical Genetics, Vol. 51, (6) : 419-424

Akimoto, Chizuru; Volk, Alexander E.; van Blitterswijk, Marka; et al.

The defective splicing caused by the ISCU intron mutation in patients with myopathy with lactic acidosis is repressed by PTBP1 but can be de-repressed by IGF2BP1

Human Mutation, Vol. 33, (3) : 467-470

Nordin, Angelica; Larsson, Elin; Holmberg, Monica

Genetic and functional studies of hereditary myopathy with lactic acidosis

Umeå University medical dissertations, 1454

Nordin, Angelica

Tissue-specific splicing of ISCU results in a skeletal muscle phenotype in myopathy with lactic acidosis, while complete loss of ISCU results in early embryonic death in mice

Human Genetics, Vol. 129, (4) : 371-378

Nordin, Angelica; Larsson, Elin; Thornell, Lars-Eric; et al.

Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect

Human Molecular Genetics, Vol. 17, (11) : 1666-1672

Olsson, Angelica; Lind, Lisbet; Thornell, Lars-Eric; et al.

View publications in DiVA

Research groups

Head of research

ALS Research Umeå

Head of research

Angelica Nordin Lab

Research projects

1 June 2020 until 1 January 2025

Clinical-genetic-cognition research into the etiology of ALS with or without dementia: The role of GGGGCC-repeat expansion in C9ORF72HRE as a cause of ALS and FTD in Sweden