Gotway GK - Search Results

1

Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans.

Ni M, Solmonson A, Pan C, Yang C, Li D, Notzon A, Cai L, Guevara G, Zacharias LG, Faubert B, Vu HS, Jiang L, Ko B, Morales NM, Pei J, Vale G, Rakheja D, Grishin NV, McDonald JG, Gotway GK, McNutt MC, Pascual JM, DeBerardinis RJ. Ni M, et al. Among authors: gotway gk. Cell Rep. 2019 Apr 30;27(5):1376-1386.e6. doi: 10.1016/j.celrep.2019.04.005. Cell Rep. 2019. PMID: 31042466 Free PMC article.

2

Diagnostic yield of clinical next-generation sequencing panels for epilepsy.

Wang J, Gotway G, Pascual JM, Park JY. Wang J, et al. JAMA Neurol. 2014 May;71(5):650-1. doi: 10.1001/jamaneurol.2014.405. JAMA Neurol. 2014. PMID: 24818677 No abstract available.

3

IKBKG Mutation With Incontinentia Pigmenti and Ring-Enhancing Encephalopathy.

Eksambe D, Agim N, Uddin N, Gotway G, Pascual JM. Eksambe D, et al. JAMA Neurol. 2015 Dec;72(12):1533-5. doi: 10.1001/jamaneurol.2015.2795. JAMA Neurol. 2015. PMID: 26658971 No abstract available.

4

FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.

Dai H, Zhang VW, El-Hattab AW, Ficicioglu C, Shinawi M, Lines M, Schulze A, McNutt M, Gotway G, Tian X, Chen S, Wang J, Craigen WJ, Wong LJ. Dai H, et al. Clin Genet. 2017 Apr;91(4):634-639. doi: 10.1111/cge.12894. Epub 2017 Jan 5. Clin Genet. 2017. PMID: 27743463

5

Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.

SoRelle JA, Pascual JM, Gotway G, Park JY. SoRelle JA, et al. JAMA Netw Open. 2020 Apr 1;3(4):e203812. doi: 10.1001/jamanetworkopen.2020.3812. JAMA Netw Open. 2020. PMID: 32347949 Free PMC article.

6

Arginase 1 Deficiency in Patients Initially Diagnosed with Hereditary Spastic Paraplegia.

McNutt MC, Foreman N, Gotway G. McNutt MC, et al. Mov Disord Clin Pract. 2022 Nov 22;10(1):109-114. doi: 10.1002/mdc3.13612. eCollection 2023 Jan. Mov Disord Clin Pract. 2022. PMID: 36698992 Free PMC article. Review.

7

Novel pathogenic UQCRC2 variants in a female with normal neurodevelopment.

Abou Haidar L, Harris RC, Pachnis P, Chen H, Gotway GK, Ni M, DeBerardinis RJ. Abou Haidar L, et al. Among authors: gotway gk. Cold Spring Harb Mol Case Stud. 2024 Jan 10;9(4):a006295. doi: 10.1101/mcs.a006295. Print 2023 Dec. Cold Spring Harb Mol Case Stud. 2024. PMID: 37709555 Free PMC article.

8

Partial N-acetyl glutamate synthase deficiency presenting as postpartum hyperammonemia: Diagnosis and subsequent pregnancy management.

Abou Haidar L, Pachnis P, Gotway GK, Ni M, DeBerardinis RJ, McNutt MC. Abou Haidar L, et al. Among authors: gotway gk. JIMD Rep. 2023 Sep 7;64(6):403-409. doi: 10.1002/jmd2.12388. eCollection 2023 Nov. JIMD Rep. 2023. PMID: 37927481 Free PMC article.

9

Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency.

Stender S, Chakrabarti RS, Xing C, Gotway G, Cohen JC, Hobbs HH. Stender S, et al. Mol Genet Metab. 2015 Dec;116(4):269-74. doi: 10.1016/j.ymgme.2015.10.009. Epub 2015 Oct 26. Mol Genet Metab. 2015. PMID: 26527160 Free PMC article.

10

The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency.

Wood WD, Elmaghrabi A, Gotway G, Wolf MTF. Wood WD, et al. Pediatr Nephrol. 2022 Jun;37(6):1415-1418. doi: 10.1007/s00467-021-05372-6. Epub 2021 Dec 2. Pediatr Nephrol. 2022. PMID: 34854955 Free PMC article.

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