Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

43 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.
Jurkute N, Bertacchi M, Arno G, Tocco C, Kim US, Kruszewski AM, Avery RA, Bedoukian EC, Han J, Ahn SJ, Pontikos N, Acheson J, Davagnanam I, Bowman R, Kaliakatsos M, Gardham A, Wakeling E, Oluonye N, Reddy MA, Clark E, Rosser E, Amati-Bonneau P, Charif M, Lenaers G, Meunier I, Defoort S, Vincent-Delorme C, Robson AG, Holder GE, Jeanjean L, Martinez-Monseny A, Vidal-Santacana M, Dominici C, Gaggioli C, Giordano N, Caleo M, Liu GT; Genomics England Research Consortium; Webster AR, Studer M, Yu-Wai-Man P. Jurkute N, et al. Among authors: kaliakatsos m. Brain Commun. 2021 Jul 20;3(3):fcab162. doi: 10.1093/braincomms/fcab162. eCollection 2021. Brain Commun. 2021. PMID: 34466801 Free PMC article.
KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement.
Nemani T, Steel D, Kaliakatsos M, DeVile C, Ververi A, Scott R, Getov S, Sudhakar S, Male A, Mankad K; Genomics England Research Consortium; Muntoni F, Reilly MM, Kurian MA, Carr L, Munot P. Nemani T, et al. Among authors: kaliakatsos m. J Peripher Nerv Syst. 2020 Jun;25(2):117-124. doi: 10.1111/jns.12368. Epub 2020 Mar 6. J Peripher Nerv Syst. 2020. PMID: 32096284
Two Cases of Guillain-Barré Syndrome Variants Presenting With Dysautonomia.
Abdel-Mannan O, D'Argenzio L, Pitt M, D'Arco F, Bhate S, Hacohen Y, Kaliakatsos M. Abdel-Mannan O, et al. Among authors: kaliakatsos m. Child Neurol Open. 2019 Jun 16;6:2329048X19856778. doi: 10.1177/2329048X19856778. eCollection 2019. Child Neurol Open. 2019. PMID: 31259196 Free PMC article.
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: kaliakatsos m. Hum Mol Genet. 2023 Jan 27;32(4):580-594. doi: 10.1093/hmg/ddac225. Hum Mol Genet. 2023. PMID: 36067010 Free PMC article.
Diagnostic algorithm for children presenting with epilepsia partialis continua.
Surana S, Rossor T, Hassell J, Boyd S, D'Arco F, Aylett S, Bhate S, Carr L, Das K, DeVile C, Eltze C, Hemingway C, Kaliakatsos M, O'Callaghan F, Prabhakar P, Robinson R, Varadkar S, Helen Cross J, Hacohen Y. Surana S, et al. Among authors: kaliakatsos m. Epilepsia. 2020 Oct;61(10):2224-2233. doi: 10.1111/epi.16650. Epub 2020 Sep 2. Epilepsia. 2020. PMID: 32875551
Clinical features, investigations, and outcomes of pediatric limbic encephalitis: A multicenter study.
Sabanathan S, Abdel-Mannan O, Mankad K, Siddiqui A, Das K, Carr L, Eltze C, Eyre M, Gadian J, Hemingway C, Kaliakatsos M, Kneen R, Krishnakumar D, Lynch B, Parida A, Rossor T, Taylor M, Wassmer E, Wright S, Lim M, Hacohen Y. Sabanathan S, et al. Among authors: kaliakatsos m. Ann Clin Transl Neurol. 2022 Jan;9(1):67-78. doi: 10.1002/acn3.51494. Epub 2022 Jan 11. Ann Clin Transl Neurol. 2022. PMID: 35015932 Free PMC article.
43 results