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Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
Ververi A, Zagaglia S, Menzies L, Baptista J, Caswell R, Baulac S, Ellard S, Lynch S; Genomics England Research Consortium; Jacques TS, Chawla MS, Heier M, Kulseth MA, Mero IL, Våtevik AK, Kraoua I, Ben Rhouma H, Ben Younes T, Miladi Z, Ben Youssef Turki I, Jones WD, Clement E, Eltze C, Mankad K, Merve A, Parker J, Hoskins B, Pressler R, Sudhakar S, DeVile C, Homfray T, Kaliakatsos M; Ponnudas (Prab) Prabhakar; Robinson R, Keim SMB, Habibi I, Reymond A, Sisodiya SM, Hurst JA. Ververi A, et al. Among authors: chawla ms. Hum Mol Genet. 2023 Jan 27;32(4):580-594. doi: 10.1093/hmg/ddac225. Hum Mol Genet. 2023. PMID: 36067010 Free PMC article.
[Iron accumulation in the motor cortex in amyotrophic lateral sclerosis].
Horn M, Yaseen SR, Skog TA, Chawla MS. Horn M, et al. Among authors: chawla ms. Tidsskr Nor Laegeforen. 2021 Mar 12;141(5). doi: 10.4045/tidsskr.20.0632. Print 2021 Mar 23. Tidsskr Nor Laegeforen. 2021. PMID: 33754670 Free article. Norwegian. No abstract available.
A man in his twenties with weakness and numbness in his legs.
Hermansen MV, Kleggetveit IP, Ulvin LB, Chawla MS, König M. Hermansen MV, et al. Among authors: chawla ms. Tidsskr Nor Laegeforen. 2022 Dec 8;142(1). doi: 10.4045/tidsskr.22.0642. Print 2023 Jan 17. Tidsskr Nor Laegeforen. 2022. PMID: 36655972 Free article. English, Norwegian.
Effects of nutrition therapy on growth, inflammation and metabolism in immature infants: a study protocol of a double-blind randomized controlled trial (ImNuT).
Wendel K, Pfeiffer HCV, Fugelseth DM, Nestaas E, Domellöf M, Skålhegg BS, Elgstøen KBP, Rootwelt H, Pettersen RD, Pripp AH, Stiris T, Moltu SJ; ImNuT Collaboration Group. Wendel K, et al. BMC Pediatr. 2021 Jan 7;21(1):19. doi: 10.1186/s12887-020-02425-x. BMC Pediatr. 2021. PMID: 33407269 Free PMC article.