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hyperekplexia相关文献:
Hereditary Hyperekplexia Overview.
Balint B, Thomas R.
2007 Jul 31 [updated 2019 Dec 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID:20301437
Hyperekplexia and other startle syndromes.
Saini AG, Pandey S.
J Neurol Sci. 2020 Sep 15;416:117051. doi: 10.1016/j.jns.2020.117051. Epub 2020 Jul 20.
PMID:32721683
Advances in hyperekplexia and other startle syndromes.
Zhan FX, Wang SG, Cao L.
Neurol Sci. 2021 Oct;42(10):4095-4107. doi: 10.1007/s10072-021-05493-8. Epub 2021 Aug 11.
PMID:34379238
Hyperekplexia-associated mutations in the neuronal glycine transporter 2.
López-Corcuera B, Arribas-González E, Aragón C.
Neurochem Int. 2019 Feb;123:95-100. doi: 10.1016/j.neuint.2018.05.014. Epub 2018 May 30.
PMID:29859229
Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes.
Ferraroli E, Perulli M, Veredice C, Contaldo I, Quintiliani M, Ricci M, Venezia I, Citrigno L, Qualtieri A, Spadafora P, Cavalcanti F, Battaglia DI.
Pediatr Neurol. 2022 Jul;132:45-49. doi: 10.1016/j.pediatrneurol.2022.05.002. Epub 2022 May 17.
PMID:35636282
Neonatal Hyperekplexia: Is It Still a Diagnostic Challenge? Evidence From a Systematic Review.
Falsaperla R, Sortino V, Giacchi V, Saporito MAN, Marino S, Tardino LG, Marino L, Gennaro A, Ruggieri M, Barberi C, Polizzi A.
J Child Neurol. 2024 Oct;39(11-12):415-424. doi: 10.1177/08830738241273425. Epub 2024 Sep 2.
PMID:39223854
Hereditary Hyperekplexia in Saudi Arabia.
Aldhilan A, Alhakeem A, Al Hajjaj S, Abukhalid M, Aldhalaan H, Salah E, Saeed M, Tabassum S, El Khashab HY, Aljabri M, Ali ES, Alwadei A, Hundallah K, Alghamdi A, Hakami W, AlShafi S, Alkuraya FS, Alanazy N, Seidahmed MZ, Alfadhel M, Tabarki B.
Pediatr Neurol. 2022 Sep;134:78-82. doi: 10.1016/j.pediatrneurol.2022.06.015. Epub 2022 Jun 24.
PMID:35841715
Hyperekplexia: a surprise diagnosis.
Yayıcı Köken Ö, Toptaş Dedeoğlu Ö, Aksoy A, Yüksel D.
Neurol Neurochir Pol. 2020;54(5):473-474. doi: 10.5603/PJNNS.a2020.0057. Epub 2020 Jul 24.
PMID:32706098
Hyperekplexia: A Single-Center Experience.
Dolu MH, Öz Tunçer G, Akça Ü, Aydın S, Bahadir O, Sezer Ö, Aksoy A, Taşdemir HA.
J Child Neurol. 2024 Jun;39(7-8):260-267. doi: 10.1177/08830738241263243. Epub 2024 Jul 25.
PMID:39051604
Hyperekplexia in neonates.
Praveen V, Patole SK, Whitehall JS.
Postgrad Med J. 2001 Sep;77(911):570-2. doi: 10.1136/pmj.77.911.570.
PMID:11524514
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