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223 related items for PubMed ID: 34117073

  • 1. Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant.
    Moss T, May M, Flanagan-Steet H, Caylor R, Jiang YH, McDonald M, Friez M, McConkie-Rosell A, Steet R.
    Cold Spring Harb Mol Case Stud; 2021 Jun; 7(3):. PubMed ID: 34117073
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  • 2. A Missense Variant in AIFM1 Caused Mitochondrial Dysfunction and Intolerance to Riboflavin Deficiency.
    Zhao Y, Lin Y, Wang B, Liu F, Zhao D, Wang W, Ren H, Wang J, Xu Z, Yan C, Ji K.
    Neuromolecular Med; 2023 Dec; 25(4):489-500. PubMed ID: 37603145
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  • 3. Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin.
    Heimer G, Eyal E, Zhu X, Ruzzo EK, Marek-Yagel D, Sagiv D, Anikster Y, Reznik-Wolf H, Pras E, Oz Levi D, Lancet D, Ben-Zeev B, Nissenkorn A.
    Eur J Paediatr Neurol; 2018 Jan; 22(1):93-101. PubMed ID: 28967629
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  • 4. AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant.
    Morton SU, Prabhu SP, Lidov HGW, Shi J, Anselm I, Brownstein CA, Bainbridge MN, Beggs AH, Vargas SO, Agrawal PB.
    Cold Spring Harb Mol Case Stud; 2017 Mar; 3(2):a001560. PubMed ID: 28299359
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  • 5. Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.
    Ghezzi D, Sevrioukova I, Invernizzi F, Lamperti C, Mora M, D'Adamo P, Novara F, Zuffardi O, Uziel G, Zeviani M.
    Am J Hum Genet; 2010 Apr 09; 86(4):639-49. PubMed ID: 20362274
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  • 6. Clinical spectrum of AIFM1-associated disease in an Irish family, from mild neuropathy to severe cerebellar ataxia with colour blindness.
    Bogdanova-Mihaylova P, Alexander MD, Murphy RP, Chen H, Healy DG, Walsh RA, Murphy SM.
    J Peripher Nerv Syst; 2019 Dec 09; 24(4):348-353. PubMed ID: 31523922
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  • 7. From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1.
    Kettwig M, Schubach M, Zimmermann FA, Klinge L, Mayr JA, Biskup S, Sperl W, Gärtner J, Huppke P.
    Mitochondrion; 2015 Mar 09; 21():12-8. PubMed ID: 25583628
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  • 8. A novel missense mutation in AIFM1 results in axonal polyneuropathy and misassembly of OXPHOS complexes.
    Hu B, Wang M, Castoro R, Simmons M, Dortch R, Yawn R, Li J.
    Eur J Neurol; 2017 Dec 09; 24(12):1499-1506. PubMed ID: 28888069
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  • 13. Expanding the spectrum of neonatal-onset AIFM1-associated disorders.
    Zambon AA, Ghezzi D, Baldoli C, Cutillo G, Fontana K, Sofia V, Patricelli MG, Nasca A, Vinci S, Spiga I, Lamantea E, Fanelli GF, Sora MGN, Rovelli R, Poloniato A, Carrera P, Filippi M, Barera G.
    Ann Clin Transl Neurol; 2023 Oct 09; 10(10):1844-1853. PubMed ID: 37644805
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  • 14. Deep Brain Stimulation for the Management of AIFM1-Related Disabling Tremor: A Case Series.
    Tunyi J, Abreu NJ, Tripathi R, Mathew MT, Mears A, Agrawal P, Thakur V, Rezai AR, Reyes EL.
    Pediatr Neurol; 2023 May 09; 142():47-50. PubMed ID: 36907087
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  • 16. A novel AIFM1 mutation in a Chinese family with X-linked Charcot-Marie-Tooth disease type 4.
    Wang B, Li X, Wang J, Liu L, Xie Y, Huang S, Pakhrin PS, Jin Q, Zhu C, Tang B, Niu Q, Zhang R.
    Neuromuscul Disord; 2018 Aug 09; 28(8):652-659. PubMed ID: 30031633
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  • 17. Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.
    Mierzewska H, Rydzanicz M, Biegański T, Kosinska J, Mierzewska-Schmidt M, Ługowska A, Pollak A, Stawiński P, Walczak A, Kędra A, Obersztyn E, Szczepanik E, Płoski R.
    Clin Genet; 2017 Jan 09; 91(1):30-37. PubMed ID: 27102849
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  • 18. Impaired AIF-CHCHD4 interaction and mitochondrial calcium overload contribute to auditory neuropathy spectrum disorder in patient-iPSC-derived neurons with AIFM1 variant.
    Qiu Y, Wang H, Fan M, Pan H, Guan J, Jiang Y, Jia Z, Wu K, Zhou H, Zhuang Q, Lei Z, Ding X, Cai H, Dong Y, Yan L, Lin A, Fu Y, Zhang D, Yan Q, Wang Q.
    Cell Death Dis; 2023 Jun 26; 14(6):375. PubMed ID: 37365177
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  • 20. High Frequency of AIFM1 Variants and Phenotype Progression of Auditory Neuropathy in a Chinese Population.
    Wang H, Bing D, Li J, Xie L, Xiong F, Lan L, Wang D, Guan J, Wang Q.
    Neural Plast; 2020 Jun 26; 2020():5625768. PubMed ID: 32684920
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