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2021 4
2022 6
2023 3
2024 0

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Mitochondrial dysfunction associated with TANGO2 deficiency.
Heiman P, Mohsen AW, Karunanidhi A, St Croix C, Watkins S, Koppes E, Haas R, Vockley J, Ghaloul-Gonzalez L. Heiman P, et al. Sci Rep. 2022 Feb 23;12(1):3045. doi: 10.1038/s41598-022-07076-9. Sci Rep. 2022. PMID: 35197517 Free PMC article.
Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.
Miyake CY, Lay EJ, Soler-Alfonso C, Glinton KE, Houck KM, Tosur M, Moran NE, Stephens SB, Scaglia F, Howard TS, Kim JJ, Pham TD, Valdes SO, Li N, Murali CN, Zhang L, Kava M, Yim D, Beach C, Webster G, Liberman L, Janson CM, Kannankeril PJ, Baxter S, Singer-Berk M, Wood J, Mackenzie SJ, Sacher M, Ghaloul-Gonzalez L, Pedroza C, Morris SA, Ehsan SA, Azamian MS, Lalani SR. Miyake CY, et al. Genet Med. 2023 Apr;25(4):100352. doi: 10.1016/j.gim.2022.11.020. Epub 2022 Dec 5. Genet Med. 2023. PMID: 36473599 Free PMC article. Review.
ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction.
Wolfe R, Heiman P, D'Annibale O, Karunanidhi A, Powers A, Mcguire M, Seminotti B, Dobrowolski SF, Reyes-Múgica M, Torok KS, Mohsen AW, Vockley J, Ghaloul-Gonzalez L. Wolfe R, et al. Mol Genet Metab Rep. 2022 Oct 29;33:100932. doi: 10.1016/j.ymgmr.2022.100932. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36338154 Free PMC article.
Natural history of propionic acidemia in the Amish population.
Ehrenberg S, Walsh Vockley C, Heiman P, Ammous Z, Wenger O, Vockley J, Ghaloul-Gonzalez L. Ehrenberg S, et al. Mol Genet Metab Rep. 2022 Nov 5;33:100936. doi: 10.1016/j.ymgmr.2022.100936. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36393899 Free PMC article.
Development and characterization of a mouse model for Acad9 deficiency.
Sinsheimer A, Mohsen AW, Bloom K, Karunanidhi A, Bharathi S, Wu YL, Schiff M, Wang Y, Goetzman ES, Ghaloul-Gonzalez L, Vockley J. Sinsheimer A, et al. Mol Genet Metab. 2021 Sep-Oct;134(1-2):156-163. doi: 10.1016/j.ymgme.2021.09.002. Epub 2021 Sep 14. Mol Genet Metab. 2021. PMID: 34556413 Free PMC article.
B-complex vitamins for patients with TANGO2-deficiency disorder.
Sandkuhler SE, Zhang L, Meisner JK, Ghaloul-Gonzalez L, Beach CM, Harris D, de Lonlay P, Lalani SR, Miyake CY, Mackenzie SJ. Sandkuhler SE, et al. J Inherit Metab Dis. 2023 Mar;46(2):161-162. doi: 10.1002/jimd.12585. Epub 2022 Dec 30. J Inherit Metab Dis. 2023. PMID: 36550018 Free PMC article. No abstract available.
A familial case of CAMK2B mutation with variable expressivity.
Heiman P, Drewes S, Ghaloul-Gonzalez L. Heiman P, et al. SAGE Open Med Case Rep. 2021 Feb 1;9:2050313X21990982. doi: 10.1177/2050313X21990982. eCollection 2021. SAGE Open Med Case Rep. 2021. PMID: 33796307 Free PMC article.
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