Browse By Person: Maksemous, Neven

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Number of items: 26.

2024

2023

, Harder, Aster V.E., , Vijfhuizen, Lisanne S., , Pelzer, Nadine, de Boer, Irene, Terwindt, Gisela M., , van den Maagdenberg, Arn M.J.M., & (2023) Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes. Molecular Neurobiology, 60(6), pp. 3034-3043.
Number of citations in Scopus 6

2022

, Blayney, Claire D, , , , , , McArthur, Jeffrey R., , Cader, M. Zameel, Finol-Urdaneta, Rocio K., Adams, David J., & (2022) Investigation of CACNA1I Cav3.3 Dysfunction in Hemiplegic Migraine. Frontiers in Molecular Neuroscience, 15, Article number: 892820.
Number of full-text downloads 31
Number of citations in Scopus 9
Number of citations in Web of Science® 2

2021

Xue, Huiqin, , Sidhom, David, Ma, Lan, Chen, Shaohui, Wu, Jianrui, Feng, Yu, , & (2021) Novel compound heterozygous missense mutations in GDAP1 cause Charcot-Marie-Tooth type 4A. Journal of Genetics, 100(2), Article number: 58.

Ngo, Thi Tuyet Dieu, , , Eccles, David A., , , , Ha, Thi Minh Thi, Bui, Chi Bao, , Scott, Rodney, & (2021) The MinION as a cost-effective technology for diagnostic screening of the SCN1A gene in epilepsy patients. Epilepsy Research, 172, Article number: 106593.
Number of citations in Scopus 1
Number of citations in Web of Science® 1

2020

Pillai, Suja, , & Lam, Alfred K. (2020) Genome sequencing in esophageal squamous cell carcinoma. In Lam, Alfred K. (Ed.) Esophageal squamous cell carcinoma: Methods and protocols. Humana Press, United States of America, pp. 217-240.

2019

2018

2016

(2016) Development of high through-put neurogenetics diagnostics. PhD thesis, Queensland University of Technology.
Number of full-text downloads 311

Tantsis, Esther, Gill, Deepak, , Gupta, Sachin, Lawson, John, , Ouvrier, Robert, Riant, Florence, , Troedson, Christopher, Webster, Richard, & Menezes, Manoj (2016) Eye movement disorders are an early manifestation of CACNA1A mutations in children. Developmental Medicine and Child Neurology, 58(6), pp. 639-644.
Number of citations in Scopus 53
Number of citations in Web of Science® 42

2012

Stuart, Shani, Roy, Bishakha, Davies, Gail, , , & (2012) Detection of a novel mutation in the CACNA1A gene. Twin Research and Human Genetics, 15(01), pp. 120-125.
Number of full-text downloads 223
Number of citations in Scopus 5
Number of citations in Web of Science® 3

Roy, Bishakha, , , , Davies, Gail, & (2012) Two novel mutations and a previously unreported intronic polymorphism in the NOTCH3 gene. Mutation Research: Fundamental and Molecular Mechanisms of Mutagenesis, 732(1 - 2), pp. 3-8.
Number of citations in Scopus 16
Number of citations in Web of Science® 12

This list was generated on Sun Aug 4 09:27:20 2024 AEST.