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A Novel AIFM1-Related Disorder Phenotype Treated with Deep Brain Stimulation.
Mov Disord. 2024 Jan;39(1):215-217. doi: 10.1002/mds.29616. Epub 2023 Oct 3.
Mov Disord. 2024.
PMID: 37787095
No abstract available.
Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency.
Muñoz-Pujol G, Alforja-Castiella S, Casaroli-Marano R, Morales-Romero B, García-Villoria J, Yépez VA, Gagneur J, Gusic M, Prokisch H, Tort F, Ribes A.
Muñoz-Pujol G, et al.
Int J Mol Sci. 2022 Oct 15;23(20):12367. doi: 10.3390/ijms232012367.
Int J Mol Sci. 2022.
PMID: 36293220
Free PMC article.
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