Rambani V - Search Results

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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.

ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability.

Skopkova M, Stufkova H, Rambani V, Stranecky V, Brennerova K, Kolnikova M, Pietrzykova M, Karhanek M, Noskova L, Tesarova M, Hansikova H, Gasperikova D. Skopkova M, et al. Among authors: rambani v. 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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