Stenton SL - Search Results

1

Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.

Blickhäuser B, Stenton SL, Neuhofer CM, Floride E, Nesbitt V, Fratter C, Koch J, Kauffmann B, Catarino C, Schlieben LD, Kopajtich R, Carelli V, Sadun AA, McFarland R, Fang F, La Morgia C, Paquay S, Nassogne MC, Ghezzi D, Lamperti C, Wortmann S, Poulton J, Klopstock T, Prokisch H. Blickhäuser B, et al. Among authors: stenton sl. Brain. 2024 Mar 13:awae057. doi: 10.1093/brain/awae057. Online ahead of print. Brain. 2024. PMID: 38478578

2

Advancing genomic approaches to the molecular diagnosis of mitochondrial disease.

Stenton SL, Prokisch H. Stenton SL, et al. Essays Biochem. 2018 Jul 20;62(3):399-408. doi: 10.1042/EBC20170110. Print 2018 Jul 20. Essays Biochem. 2018. PMID: 29950319 Review.

3

The diagnosis of inborn errors of metabolism by an integrative "multi-omics" approach: A perspective encompassing genomics, transcriptomics, and proteomics.

Stenton SL, Kremer LS, Kopajtich R, Ludwig C, Prokisch H. Stenton SL, et al. J Inherit Metab Dis. 2020 Jan;43(1):25-35. doi: 10.1002/jimd.12130. Epub 2019 Jun 25. J Inherit Metab Dis. 2020. PMID: 31119744 Review.

4

Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.

Esposito A, Falace A, Wagner M, Gal M, Mei D, Conti V, Pisano T, Aprile D, Cerullo MS, De Fusco A, Giovedì S, Seibt A, Magen D, Polster T, Eran A, Stenton SL, Fiorillo C, Ravid S, Mayatepek E, Hafner H, Wortmann S, Levanon EY, Marini C, Mandel H, Benfenati F, Distelmaier F, Fassio A, Guerrini R. Esposito A, et al. Among authors: stenton sl. Brain. 2019 Dec 1;142(12):3876-3891. doi: 10.1093/brain/awz326. Brain. 2019. PMID: 31688942

5

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.

Zhou J, Li J, Stenton SL, Ren X, Gong S, Fang F, Prokisch H. Zhou J, et al. Among authors: stenton sl. Brain. 2020 Feb 1;143(2):e8. doi: 10.1093/brain/awz375. Brain. 2020. PMID: 31755961 No abstract available.

6

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.

Tan J, Wagner M, Stenton SL, Strom TM, Wortmann SB, Prokisch H, Meitinger T, Oexle K, Klopstock T. Tan J, et al. Among authors: stenton sl. EBioMedicine. 2020 Apr;54:102730. doi: 10.1016/j.ebiom.2020.102730. Epub 2020 Apr 16. EBioMedicine. 2020. PMID: 32305867 Free PMC article.

7

The Clinical Application of RNA Sequencing in Genetic Diagnosis of Mendelian Disorders.

Stenton SL, Prokisch H. Stenton SL, et al. Clin Lab Med. 2020 Jun;40(2):121-133. doi: 10.1016/j.cll.2020.02.004. Clin Lab Med. 2020. PMID: 32439064 Review. No abstract available.

8

Genetics of mitochondrial diseases: Identifying mutations to help diagnosis.

Stenton SL, Prokisch H. Stenton SL, et al. EBioMedicine. 2020 Jun;56:102784. doi: 10.1016/j.ebiom.2020.102784. Epub 2020 May 23. EBioMedicine. 2020. PMID: 32454403 Free PMC article. Review.

9

Corrigendum to "Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases" [EBioMedicine 54 (2020) 102730].

Tan J, Wagner M, Stenton SL, Strom TM, Wortmann SB, Prokisch H, Meitinger T, Oexle K, Klopstock T. Tan J, et al. Among authors: stenton sl. EBioMedicine. 2020 Nov;61:103072. doi: 10.1016/j.ebiom.2020.103072. Epub 2020 Oct 21. EBioMedicine. 2020. PMID: 33096486 Free PMC article. No abstract available.

10

Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.

Stenton SL, Piekutowska-Abramczuk D, Kulterer L, Kopajtich R, Claeys KG, Ciara E, Eisen J, Płoski R, Pronicka E, Malczyk K, Wagner M, Wortmann SB, Prokisch H. Stenton SL, et al. Hum Mutat. 2021 Mar;42(3):310-319. doi: 10.1002/humu.24160. Epub 2021 Jan 3. Hum Mutat. 2021. PMID: 33348459

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