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Page 1
ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability.
Orphanet J Rare Dis. 2023 Apr 24;18(1):92. doi: 10.1186/s13023-023-02689-3.
Orphanet J Rare Dis. 2023.
PMID: 37095554
Free PMC article.
Mitochondria and mitochondrial disorders: an overview update.
Rambani V, Hromnikova D, Gasperikova D, Skopkova M.
Rambani V, et al.
Endocr Regul. 2022 Jul 13;56(3):232-248. doi: 10.2478/enr-2022-0025.
Endocr Regul. 2022.
PMID: 35843711
Free article.
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PMPCA-Related Encephalopathy: Novel Variants, Phenotype Extension, and Mitochondrial Morphology.
Rambani V, Kolnikova M, Cagalinec M, Skopkova M, Gasperikova D.
Rambani V, et al.
Neurol Genet. 2023 Nov 14;9(6):e200106. doi: 10.1212/NXG.0000000000200106. eCollection 2023 Dec.
Neurol Genet. 2023.
PMID: 38235041
Free PMC article.
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