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Showing 1 to 12 of 17 entries
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Brain communications

Iacoangeli A, Fogh I, Selvackadunco S, Topp SD, Shatunov A, van Rheenen W, Al-Khleifat A, Opie-Martin S, Ratti A, Calvo A, Van Damme P, Robberecht W, Chio A, Dobson RJ, Hardiman O, Shaw CE, van den Berg LH, Andersen PM, Smith BN, Silani V, Veldink JH, Breen G, Troakes C, Al-Chalabi A, Jones AR.
PMID: 34708205
Brain Commun. 2021 Oct 07;3(4):fcab236. doi: 10.1093/braincomms/fcab236. eCollection 2021.

Evidence indicates that common variants found in genome-wide association studies increase risk of disease through gene regulation via expression Quantitative Trait Loci. Using multiple genome-wide methods, we examined if Single Nucleotide Polymorphisms increase risk of Amyotrophic Lateral Sclerosis through...

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

Scientific reports

Jones AR, Iacoangeli A, Adey BN, Bowles H, Shatunov A, Troakes C, Garson JA, McCormick AL, Al-Chalabi A.
PMID: 34253796
Sci Rep. 2021 Jul 12;11(1):14283. doi: 10.1038/s41598-021-93742-3.

There is increasing evidence that endogenous retroviruses (ERVs) play a significant role in central nervous system diseases, including amyotrophic lateral sclerosis (ALS). Studies of ALS have consistently identified retroviral enzyme reverse transcriptase activity in patients. Evidence indicates that ERVs...

Brain communications

Iacoangeli A, Fogh I, Selvackadunco S, Topp SD, Shatunov A, van Rheenen W, Al-Khleifat A, Opie-Martin S, Ratti A, Calvo A, Van Damme P, Robberecht W, Chio A, Dobson RJ, Hardiman O, Shaw CE, van den Berg LH, Andersen PM, Smith BN, Silani V, Veldink JH, Breen G, Troakes C, Al-Chalabi A, Jones AR.
PMID: 34708205
Brain Commun. 2021 Oct 07;3(4):fcab236. doi: 10.1093/braincomms/fcab236. eCollection 2021.

Evidence indicates that common variants found in genome-wide association studies increase risk of disease through gene regulation via expression Quantitative Trait Loci. Using multiple genome-wide methods, we examined if Single Nucleotide Polymorphisms increase risk of Amyotrophic Lateral Sclerosis through...

Cross-reactive probes on Illumina DNA methylation arrays: a large study on ALS shows that a cautionary approach is warranted in interpreting epigenome-wide association studies.

NAR genomics and bioinformatics

Hop PJ, Zwamborn RAJ, Hannon EJ, Dekker AM, van Eijk KR, Walker EM, Iacoangeli A, Jones AR, Shatunov A, Khleifat AA, Opie-Martin S, Shaw CE, Morrison KE, Shaw PJ, McLaughlin RL, Hardiman O, Al-Chalabi A, Van Den Berg LH, Mill J, Veldink JH.
PMID: 33554115
NAR Genom Bioinform. 2020 Dec 17;2(4):lqaa105. doi: 10.1093/nargab/lqaa105. eCollection 2020 Dec.

Illumina DNA methylation arrays are a widely used tool for performing genome-wide DNA methylation analyses. However, measurements obtained from these arrays may be affected by technical artefacts that result in spurious associations if left unchecked. Cross-reactivity represents one of...

Enrichment of .

eLife

Gilley J, Jackson O, Pipis M, Estiar MA, Al-Chalabi A, Danzi MC, van Eijk KR, Goutman SA, Harms MB, Houlden H, Iacoangeli A, Kaye J, Lima L, Ravits J, Rouleau GA, Schüle R, Xu J, Züchner S, Cooper-Knock J, Gan-Or Z, Reilly MM, Coleman MP.
PMID: 34796871
Elife. 2021 Nov 19;10. doi: 10.7554/eLife.70905.

SARM1, a protein with critical NADase activity, is a central executioner in a conserved programme of axon degeneration. We report seven rare missense or in-frame microdeletion human

Enrichment of .

eLife

Gilley J, Jackson O, Pipis M, Estiar MA, Al-Chalabi A, Danzi MC, van Eijk KR, Goutman SA, Harms MB, Houlden H, Iacoangeli A, Kaye J, Lima L, Ravits J, Rouleau GA, Schüle R, Xu J, Züchner S, Cooper-Knock J, Gan-Or Z, Reilly MM, Coleman MP.
PMID: 34796871
Elife. 2021 Nov 19;10. doi: 10.7554/eLife.70905.

SARM1, a protein with critical NADase activity, is a central executioner in a conserved programme of axon degeneration. We report seven rare missense or in-frame microdeletion human

Enrichment of .

eLife

Gilley J, Jackson O, Pipis M, Estiar MA, Al-Chalabi A, Danzi MC, van Eijk KR, Goutman SA, Harms MB, Houlden H, Iacoangeli A, Kaye J, Lima L, Ravits J, Rouleau GA, Schüle R, Xu J, Züchner S, Cooper-Knock J, Gan-Or Z, Reilly MM, Coleman MP.
PMID: 34796871
Elife. 2021 Nov 19;10. doi: 10.7554/eLife.70905.

SARM1, a protein with critical NADase activity, is a central executioner in a conserved programme of axon degeneration. We report seven rare missense or in-frame microdeletion human

Value of systematic genetic screening of patients with amyotrophic lateral sclerosis.

Journal of neurology, neurosurgery, and psychiatry

Shepheard SR, Parker MD, Cooper-Knock J, Verber NS, Tuddenham L, Heath P, Beauchamp N, Place E, Sollars ESA, Turner MR, Malaspina A, Fratta P, Hewamadduma C, Jenkins TM, McDermott CJ, Wang D, Kirby J, Shaw PJ.
PMID: 33589474
J Neurol Neurosurg Psychiatry. 2021 May;92(5):510-518. doi: 10.1136/jnnp-2020-325014. Epub 2021 Feb 14.

OBJECTIVE: The clinical utility of routine genetic sequencing in amyotrophic lateral sclerosis (ALS) is uncertain. Our aim was to determine whether routine targeted sequencing of 44 ALS-relevant genes would have a significant impact on disease subclassification and clinical care.METHODS:...

Rare variant burden analysis within enhancers identifies CAV1 as an ALS risk gene.

Cell reports

Cooper-Knock J, Zhang S, Kenna KP, Moll T, Franklin JP, Allen S, Nezhad HG, Iacoangeli A, Yacovzada NY, Eitan C, Hornstein E, Elhaik E, Celadova P, Bose D, Farhan S, Fishilevich S, Lancet D, Morrison KE, Shaw CE, Al-Chalabi A, Veldink JH, Kirby J, Snyder MP, Shaw PJ.
PMID: 33535055
Cell Rep. 2021 Feb 02;34(5):108730. doi: 10.1016/j.celrep.2021.108730.

No abstract available.

Does genetic anticipation occur in familial Alexander disease?.

Neurogenetics

Hunt CK, Al Khleifat A, Burchill E, Ederle J, Al-Chalabi A, Sreedharan J.
PMID: 34046764
Neurogenetics. 2021 Jul;22(3):215-219. doi: 10.1007/s10048-021-00642-9. Epub 2021 May 28.

Alexander Disease (AxD) is a rare leukodystrophy caused by missense mutations of glial fibrillary acidic protein (GFAP). Primarily seen in infants and juveniles, it can present in adulthood. We report a family with inherited AxD in which the mother...

Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease.

Alzheimer's & dementia (Amsterdam, Netherlands)

Peloso GM, van der Lee SJ, Destefano AL, Seshardi S.
PMID: 30422133
Alzheimers Dement (Amst). 2018 Sep 22;10:595-598. doi: 10.1016/j.dadm.2018.08.008. eCollection 2018.

INTRODUCTION: There is conflicting evidence whether high-density lipoprotein cholesterol (HDL-C) is a risk factor for Alzheimer's disease (AD) and dementia. Genetic variation in the cholesteryl ester transfer protein (METHODS: Ten single nucleotide polymorphisms within the RESULTS: Based on 10...

Brain communications

Iacoangeli A, Fogh I, Selvackadunco S, Topp SD, Shatunov A, van Rheenen W, Al-Khleifat A, Opie-Martin S, Ratti A, Calvo A, Van Damme P, Robberecht W, Chio A, Dobson RJ, Hardiman O, Shaw CE, van den Berg LH, Andersen PM, Smith BN, Silani V, Veldink JH, Breen G, Troakes C, Al-Chalabi A, Jones AR.
PMID: 34708205
Brain Commun. 2021 Oct 07;3(4):fcab236. doi: 10.1093/braincomms/fcab236. eCollection 2021.

Evidence indicates that common variants found in genome-wide association studies increase risk of disease through gene regulation via expression Quantitative Trait Loci. Using multiple genome-wide methods, we examined if Single Nucleotide Polymorphisms increase risk of Amyotrophic Lateral Sclerosis through...

Showing 1 to 12 of 17 entries