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Angelica Nordin

Observed name: Nordin, Angelica
Institution: Umeå University
ORCID: 0000-0002-7703-647X
Observed ORCID: 0000-0002-7703-647X
OpenAlex ID: A5027275306
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
2021 · Wouter van Rheenen, Rick A. A. van der Spek, et al. · Nature Genetics · 538
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A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories
2014 · Chizuru Akimoto, Alexander E Volk, et al. · Journal of Medical Genetics · 131
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Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD
2015 · Angelica Nordin, Chizuru Akimoto, et al. · Human Molecular Genetics · 119
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De novo mutations in SOD1 are a cause of ALS
2021 · Kathrin Müller, Ki-Wook Oh, et al. · Journal of Neurology Neurosurgery & Psychiatry · 48
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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
2010 · Angelica Nordin, Elin Larsson, et al. · Human Genetics · 45
The defective splicing caused by the ISCU intron mutation in patients with myopathy with lactic acidosis is repressed by PTBP1 but can be derepressed by IGF2BP1
2011 · Angelica Nordin, Elin Larsson, et al. · Human Mutation · 36
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Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening study
2016 · Angelica Nordin, Chizuru Akimoto, et al. · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · 19
Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis
2022 · Gijs H.P. Tazelaar, Paul J. Hop, et al. · Neurobiology of Aging · 6
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PTBP 1 acts as a dominant repressor of the aberrant tissue‐specific splicing of ISCU in hereditary myopathy with lactic acidosis
2018 · Denise F. R. Rawcliffe, Lennart Österman, et al. · Molecular Genetics & Genomic Medicine · 6
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Small striatal huntingtin inclusions in patients with motor neuron disease with reduced penetrance and intermediate HTT gene expansions
2024 · Anna-Karin Roos, Erica Stenvall, et al. · Human Molecular Genetics · 5
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Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
2022 · Wouter van Rheenen, Rick A. A. van der Spek, et al. · Nature Genetics · 5
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Heterogeneous phenotype and cardiovascular comorbidities in Swedish patients with spinobulbar muscular atrophy
2026 · Anna-Karin Roos, Simon Forsberg, et al. · Journal of Neurology · 1
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Pathology of three ALS patients with FUS variants, including one likely benign Q23L variant lacking FUS inclusions.
2025 · Erica Stenvall, Kornelia Åman Grönlund, et al. · PubMed
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Genetic and functional studies of hereditary myopathy with lactic acidosis
2011 · Angelica Nordin
Works count: 15
Citation count: 959
H-index: 7
I10-index: 7
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