Angelica Nordin

Umea, AC 90184, Sweden

Last Updated: 09/26/2026

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Found 12 publications

Heterogeneous phenotype and cardiovascular comorbidities in Swedish patients with spinobulbar muscular atrophy.

Heterogeneous phenotype and cardiovascular comorbidities in Swedish patients with spinobulbar muscular atrophy.

Journal: Journal of neurology

Published: October 13, 2025

Pathology of three ALS patients with FUS variants, including one likely benign Q23L variant lacking FUS inclusions.

Pathology of three ALS patients with FUS variants, including one likely benign Q23L variant lacking FUS inclusions.

Journal: Human molecular genetics

Published: April 17, 2025

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

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

Journal: Human molecular genetics

Published: May 22, 2024

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

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

Journal: Neurobiology of aging

Published: May 11, 2022

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

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

Journal: Nature genetics

Published: February 01, 2022

De novo mutations in SOD1 are a cause of ALS.

De novo mutations in SOD1 are a cause of ALS.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: July 05, 2021

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

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

Journal: Nature genetics

Published: March 12, 2021

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

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

Journal: Molecular genetics & genomic medicine

Published: February 22, 2018

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

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

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration

Published: December 13, 2016

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

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

Journal: Human molecular genetics

Published: December 11, 2014

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

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: Journal of medical genetics

Published: April 08, 2014

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.

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.

Journal: Human mutation

Published: September 28, 2011

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Last Updated: 09/26/2026