Search Results - "Iacoangeli, Alfredo"

La benchmarking large language models for extracting biobank-derived insights into health and disease.

Authors: Corpas, Manuel Iacoangeli, Alfredo

Source: PLoS Computational Biology. 4/20/2026, Vol. 22 Issue 4, p1-18. 18p.

Theme 2 Genetics and genomics.

Authors: Roggenbuck, Jennifer Doyle, Carly Lincoln, Tara et al.

Source: Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 2019 Supplement, Vol. 20, p114-134. 21p.

Author Correction: A HML6 endogenous retrovirus on chromosome 3 is upregulated in amyotrophic lateral sclerosis motor cortex.

Authors: Jones, Ashley R. Iacoangeli, Alfredo Adey, Brett N. et al.

Source: Scientific Reports. 8/19/2022, Vol. 12 Issue 1, p1-1. 1p.

Amyotrophic lateral sclerosis and cerebellum.

Authors: Kabiljo, Renata Iacoangeli, Alfredo Al-Chalabi, Ammar et al.

Source: Scientific Reports. 7/22/2022, Vol. 12 Issue 1, p1-4. 4p.

A HML6 endogenous retrovirus on chromosome 3 is upregulated in amyotrophic lateral sclerosis motor cortex.

Authors: Jones, Ashley R. Iacoangeli, Alfredo Adey, Brett N. et al.

Source: Scientific Reports. 12/1/2021, Vol. 11 Issue 1, p1-12. 12p.

Entering the era of precision medicine to treat amyotrophic lateral sclerosis.

Authors: Theunissen, Frances Flynn, Loren Iacoangeli, Alfredo et al.

Source: Molecular Neurodegeneration. 10/23/2025, Vol. 20 Issue 1, p1-25. 25p.

Telomere length is greater in ALS than in controls: a whole genome sequencing study.

Authors: Al Khleifat, Ahmad Iacoangeli, Alfredo Shatunov, Aleksey et al.

Source: Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. May2019, Vol. 20 Issue 3/4, p229-234. 6p.

Investigating the Performance of Oxford Nanopore Long-Read Sequencing with Respect to Illumina Microarrays and Short-Read Sequencing.

Authors: Santos, Renato Lee, Hyunah Williams, Alexander et al.

Source: International Journal of Molecular Sciences. May2025, Vol. 26 Issue 10, p4492. 31p.

ALSgeneScanner: a pipeline for the analysis and interpretation of DNA sequencing data of ALS patients.

Authors: Iacoangeli, Alfredo Al Khleifat, Ahmad Sproviero, William et al.

Source: Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. May2019, Vol. 20 Issue 3/4, p207-215. 9p.

impact of age on genetic testing decisions in amyotrophic lateral sclerosis.

Authors: Mehta, Puja R Iacoangeli, Alfredo Opie-Martin, Sarah et al.

Source: Brain: A Journal of Neurology; Dec2022, Vol. 145 Issue 12, p4440-4447, 8p

UK case control study of smoking and risk of amyotrophic lateral sclerosis.

Authors: Opie-Martin, Sarah Jones, Ashley Iacoangeli, Alfredo et al.

Source: Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. May2020, Vol. 21 Issue 3/4, p222-227. 6p.

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Analysis of the GCG repeat length in NIPA1 gene in C9orf72-mediated ALS in a large Italian ALS cohort.

Authors: Corrado, Lucia Brunetti, Maura Di Pierro, Alice et al.

Source: Neurological Sciences. Dec2019, Vol. 40 Issue 12, p2537-2540. 4p. 3 Charts.

Unsupervised machine learning identifies distinct ALS molecular subtypes in post-mortem motor cortex and blood expression data.

Authors: Marriott, Heather Kabiljo, Renata Hunt, Guy P et al.

Source: Acta Neuropathologica Communications. 12/21/2023, Vol. 11 Issue 1, p1-20. 20p.

SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in SOD1 amyotrophic lateral sclerosis.

Authors: Spargo, Thomas P Opie-Martin, Sarah Hunt, Guy P et al.

Source: Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. Nov2023, Vol. 24 Issue 7/8, p736-745. 10p.

C9orf72 intermediate expansions of 24–30 repeats are associated with ALS.

Authors: Iacoangeli, Alfredo Al Khleifat, Ahmad Jones, Ashley R. et al.

Source: Acta Neuropathologica Communications. 7/17/2019, Vol. 7 Issue 1, pN.PAG-N.PAG. 1p.

Frequency and methylation status of selected retrotransposition competent L1 loci in amyotrophic lateral sclerosis.

Authors: Savage, Abigail L. Lopez, Ana Illera Iacoangeli, Alfredo et al.

Source: Molecular Brain. 11/13/2020, Vol. 13 Issue 1, p1-16. 16p.

Autophagy and Ubiquitin-Proteasome System Coordinate to Regulate the Protein Quality Control of Neurodegenerative Disease-Associated DCTN1.

Authors: Wang, Nana Ma, Qilian Peng, Panpan et al.

Source: Neurotoxicity Research. Jan2020, Vol. 37 Issue 1, p48-57. 10p.

Calculating variant penetrance from family history of disease and average family size in population-scale data.

Authors: Spargo, Thomas P. Opie-Martin, Sarah Bowles, Harry et al.

Source: Genome Medicine. 12/15/2022, Vol. 14 Issue 1, p1-13. 13p.

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