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DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
Brain. 2022 Jun 3;145(5):1624-1631. doi: 10.1093/brain/awac052.
Brain. 2022.
PMID: 35148383
Free PMC article.
Leigh Syndrome as a Phenotype of Near-Homoplasmic m.8344 A>G Variant in Children.
Russo SN, Goldstein A, Karaa A, Koenig MK, Walker M.
Russo SN, et al.
Child Neurol Open. 2021 Mar 2;8:2329048X21991382. doi: 10.1177/2329048X21991382. eCollection 2021 Jan-Dec.
Child Neurol Open. 2021.
PMID: 33718511
Free PMC article.
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Corrigendum to "A new pathogenic POLG variant" [Molecular Genetics and Metabolism Reports 32 (2022) 100890].
Russo SN, Shah EG, Copeland WC, Koenig MK.
Russo SN, et al.
Mol Genet Metab Rep. 2023 Jan 31;34:100958. doi: 10.1016/j.ymgmr.2023.100958. eCollection 2023 Mar.
Mol Genet Metab Rep. 2023.
PMID: 36873250
Free PMC article.
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Altered Mental Status, Ataxia, and Ophthalmoplegia in an 8-year-old Girl.
Stubbs LA, Russo SN, Goldberg BR, Kamdar AA.
Stubbs LA, et al. Among authors: russo sn.
Pediatr Rev. 2021 Jan;42(Suppl 1):S78-S81. doi: 10.1542/pir.2019-0161.
Pediatr Rev. 2021.
PMID: 33386369
No abstract available.
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Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases.
Koenig MK, Russo SN, McBride KL, Bjornsson HT, Gunnarsdottir BB, Goldstein A, Falk SA.
Koenig MK, et al. Among authors: russo sn.
JIMD Rep. 2022 Sep 21;64(1):65-70. doi: 10.1002/jmd2.12335. eCollection 2023 Jan.
JIMD Rep. 2022.
PMID: 36636586
Free PMC article.
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Teaching NeuroImages: Infantile-onset Krabbe disease with tigroid appearance of the white matter.
Andriescu EC, Russo SN, Pérez CA.
Andriescu EC, et al. Among authors: russo sn.
Neurology. 2020 May 5;94(18):e1964-e1965. doi: 10.1212/WNL.0000000000009380. Epub 2020 Apr 8.
Neurology. 2020.
PMID: 32269112
No abstract available.
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