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

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 1
2005 2
2006 1
2007 2
2008 2
2009 3
2010 1
2011 2
2012 3
2013 1
2014 2
2016 3
2017 1
2018 2
2019 4
2020 5
2021 4
2022 3
2023 3
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

40 results

Results by year

Filters applied: . Clear all
Page 1
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics; Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study; Hedrich UBS, Scheffer IE, Helbig I… See abstract for full author list ➔ Helbig KL, et al. Among authors: asamoah a. Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18. Am J Hum Genet. 2018. PMID: 30343943 Free PMC article.
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.
Syeda SB, Lone MA, Mohassel P, Donkervoort S, Munot P, França MC Jr, Galarza-Brito JE, Eckenweiler M, Asamoah A, Gable K, Majumdar A, Schumann A, Gupta SD, Lakhotia A, Shieh PB, Foley AR, Jackson KE, Chao KR, Winder TL, Catapano F, Feng L, Kirschner J, Muntoni F, Dunn TM, Hornemann T, Bönnemann CG. Syeda SB, et al. Among authors: asamoah a. J Neurol Neurosurg Psychiatry. 2024 Jan 11;95(2):103-113. doi: 10.1136/jnnp-2023-332132. J Neurol Neurosurg Psychiatry. 2024. PMID: 38041679 Free PMC article.
Therapeutic efficacy of dihydroartemisinin-piperaquine combination for the treatment of uncomplicated malaria in Ghana.
Abuaku B, Boateng P, Peprah NY, Asamoah A, Duah-Quashie NO, Matrevi SA, Amoako EO, Quashie N, Owusu-Antwi F, Malm KL, Koram KA. Abuaku B, et al. Among authors: asamoah a. Front Cell Infect Microbiol. 2023 Jan 6;12:1058660. doi: 10.3389/fcimb.2022.1058660. eCollection 2022. Front Cell Infect Microbiol. 2023. PMID: 36683700 Free PMC article. Review.
Emicizumab Associated Rhabdomyolysis in Hemophilia A.
Wilson JA, Hayden S, Asamoah A, Sharma VR, Jennings DC, Raj AB. Wilson JA, et al. Among authors: asamoah a. Clin Hematol Int. 2020 Oct 7;2(4):165-167. doi: 10.2991/chi.k.200924.001. eCollection 2020 Dec. Clin Hematol Int. 2020. PMID: 34595457 Free PMC article.
Child Neurology: Triosephosphate isomerase deficiency.
Harris C, Nelson B, Farber D, Bickel S, Huxol H, Asamoah A, Morton R. Harris C, et al. Among authors: asamoah a. Neurology. 2020 Dec 15;95(24):e3448-e3451. doi: 10.1212/WNL.0000000000010745. Epub 2020 Sep 1. Neurology. 2020. PMID: 32873690 No abstract available.
Unusual Metabolites in a Patient with Isovaleric Acidemia.
De Biase I, Pasquali M, Asamoah A. De Biase I, et al. Among authors: asamoah a. Clin Chem. 2019 Apr;65(4):595-597. doi: 10.1373/clinchem.2018.300558. Clin Chem. 2019. PMID: 30923063 No abstract available.
40 results