Akkari PA - Search Results

1

Bridging the gap: Short structural variants in the genetics of anorexia nervosa.

Berthold N, Pytte J, Bulik CM, Tschochner M, Medland SE, Akkari PA. Berthold N, et al. Among authors: akkari pa. Int J Eat Disord. 2022 Jun;55(6):747-753. doi: 10.1002/eat.23716. Epub 2022 Apr 26. Int J Eat Disord. 2022. PMID: 35470453 Free PMC article.

2

Structural Variants May Be a Source of Missing Heritability in sALS.

Theunissen F, Flynn LL, Anderton RS, Mastaglia F, Pytte J, Jiang L, Hodgetts S, Burns DK, Saunders A, Fletcher S, Wilton SD, Akkari PA. Theunissen F, et al. Among authors: akkari pa. Front Neurosci. 2020 Jan 31;14:47. doi: 10.3389/fnins.2020.00047. eCollection 2020. Front Neurosci. 2020. PMID: 32082115 Free PMC article.

3

Association of a structural variant within the SQSTM1 gene with amyotrophic lateral sclerosis.

Pytte J, Anderton RS, Flynn LL, Theunissen F, Jiang L, Pitout I, James I, Mastaglia FL, Saunders AM, Bedlack R, Siddique T, Siddique N, Akkari PA. Pytte J, et al. Among authors: akkari pa. Neurol Genet. 2020 Feb 27;6(2):e406. doi: 10.1212/NXG.0000000000000406. eCollection 2020 Apr. Neurol Genet. 2020. PMID: 32185242 Free PMC article.

4

Disease-modifying effects of an SCAF4 structural variant in a predominantly SOD1 ALS cohort.

Pytte J, Flynn LL, Anderton RS, Mastaglia FL, Theunissen F, James I, Pfaff A, Koks S, Saunders AM, Bedlack R, Burns DK, Lutz MW, Siddique N, Siddique T, Roses AD, Akkari PA. Pytte J, et al. Among authors: akkari pa. Neurol Genet. 2020 Jul 1;6(4):e470. doi: 10.1212/NXG.0000000000000470. eCollection 2020 Aug. Neurol Genet. 2020. PMID: 32754644 Free PMC article.

5

Short structural variants as informative genetic markers for ALS disease risk and progression.

Theunissen F, Flynn LL, Anderton RS, Akkari PA. Theunissen F, et al. Among authors: akkari pa. BMC Med. 2022 Jan 17;20(1):11. doi: 10.1186/s12916-021-02206-y. BMC Med. 2022. PMID: 35034660 Free PMC article.

6

Structural variants can be more informative for disease diagnostics, prognostics and translation than current SNP mapping and exon sequencing.

Roses AD, Akkari PA, Chiba-Falek O, Lutz MW, Gottschalk WK, Saunders AM, Saul B, Sundseth S, Burns D. Roses AD, et al. Among authors: akkari pa. Expert Opin Drug Metab Toxicol. 2016;12(2):135-47. doi: 10.1517/17425255.2016.1133586. Epub 2016 Feb 2. Expert Opin Drug Metab Toxicol. 2016. PMID: 26727306 Review.

7

ALS Genetics, Mechanisms, and Therapeutics: Where Are We Now?

Mejzini R, Flynn LL, Pitout IL, Fletcher S, Wilton SD, Akkari PA. Mejzini R, et al. Among authors: akkari pa. Front Neurosci. 2019 Dec 6;13:1310. doi: 10.3389/fnins.2019.01310. eCollection 2019. Front Neurosci. 2019. PMID: 31866818 Free PMC article. Review.

8

The TOMM40 '523' polymorphism in disease risk and age of symptom onset in two independent cohorts of Parkinson's disease.

Bakeberg MC, Hoes ME, Gorecki AM, Theunissen F, Pfaff AL, Kenna JE, Plunkett K, Kõks S, Akkari PA, Mastaglia FL, Anderton RS. Bakeberg MC, et al. Among authors: akkari pa. Sci Rep. 2021 Mar 18;11(1):6363. doi: 10.1038/s41598-021-85510-0. Sci Rep. 2021. PMID: 33737565 Free PMC article.

9

Intronic NEFH variant is associated with reduced risk for sporadic ALS and later age of disease onset.

Theunissen F, Anderton RS, Mastaglia FL, James I, Bedlack R, Akkari PA. Theunissen F, et al. Among authors: akkari pa. Sci Rep. 2022 Aug 30;12(1):14739. doi: 10.1038/s41598-022-18942-x. Sci Rep. 2022. PMID: 36042248 Free PMC article.

10

A splice-site mutation causing ovine McArdle's disease.

Tan P, Allen JG, Wilton SD, Akkari PA, Huxtable CR, Laing NG. Tan P, et al. Among authors: akkari pa. Neuromuscul Disord. 1997 Jul;7(5):336-42. doi: 10.1016/s0960-8966(97)00062-x. Neuromuscul Disord. 1997. PMID: 9267848

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