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Umeå universitet
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Personalbild Angelica Nordin
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Angelica Nordin

ST-läkare och forskare med genetik som specialområde.

Kontakt

E-post
angelica.nordin@umu.se
Telefon

Verksam vid

Anknytning
Anknuten som läkare till Institutionen för medicinsk biovetenskap Enhet: Medicinsk och klinisk genetik
Plats
By 6M, vån 4, Sjukhusområdet Umeå universitet, 901 85 Umeå

ST-läkare i Klinisk Genetik vid Norrlands Universitetssjukhus i Umeå.

Forskar om genetiken bakom ALS med fokus på expansion av en repetetiv sekvens (hexanukleotiden GGGGCC) i C9orf72- den vanligaste mutation som orsakar ALS och frontallobsdemens, FTD.

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.
Visa publikationer i DiVA