Hawkins C - Search Results

1

Pearls & Oy-sters: Fatal brain edema is a rare complication of severe CACNA1A-related disorder.

Gauquelin L, Hawkins C, Tam EWY, Miller SP, Yoon G. Gauquelin L, et al. Among authors: hawkins c. Neurology. 2020 Apr 7;94(14):631-634. doi: 10.1212/WNL.0000000000009223. Epub 2020 Mar 13. Neurology. 2020. PMID: 32170034 No abstract available.

2

Dysembryoplastic neuroepithelial tumors in childhood: long-term outcome and prognostic features.

Nolan MA, Sakuta R, Chuang N, Otsubo H, Rutka JT, Snead OC 3rd, Hawkins CE, Weiss SK. Nolan MA, et al. Among authors: hawkins ce. Neurology. 2004 Jun 22;62(12):2270-6. doi: 10.1212/01.wnl.0000130495.69512.6f. Neurology. 2004. PMID: 15210893

3

Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation.

Al-Zaidy SA, Baskin B, Hawkins C, Yoon G, Ray PN, Vajsar J. Al-Zaidy SA, et al. Among authors: hawkins c. Muscle Nerve. 2012 May;45(5):752-5. doi: 10.1002/mus.23274. Muscle Nerve. 2012. PMID: 22499106

4

Massive CAG repeat expansion and somatic instability in maternally transmitted infantile spinocerebellar ataxia type 7.

Trang H, Stanley SY, Thorner P, Faghfoury H, Schulze A, Hawkins C, Pearson CE, Yoon G. Trang H, et al. Among authors: hawkins c. JAMA Neurol. 2015 Feb;72(2):219-23. doi: 10.1001/jamaneurol.2014.1902. JAMA Neurol. 2015. PMID: 25506882

5

Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L.

Yoon G, Malam Z, Paton T, Marshall CR, Hyatt E, Ivakine Z, Scherer SW, Lee KS, Hawkins C, Cohn RD; Finding of Rare Disease Genes (FORGE) in Canada Consortium Steering Committee. Yoon G, et al. Among authors: hawkins c. J Pediatr. 2016 Apr;171:313-6.e1-2. doi: 10.1016/j.jpeds.2015.12.060. Epub 2016 Jan 26. J Pediatr. 2016. PMID: 26825290

6

Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome.

Abdullah S, Hawkins C, Wilson G, Yoon G, Mertens L, Carter MT, Guerin A. Abdullah S, et al. Among authors: hawkins c. Am J Med Genet A. 2017 Nov;173(11):3082-3086. doi: 10.1002/ajmg.a.38394. Epub 2017 Oct 5. Am J Med Genet A. 2017. PMID: 28980384

7

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.

Estañ MC, Fernández-Núñez E, Zaki MS, Esteban MI, Donkervoort S, Hawkins C, Caparros-Martin JA, Saade D, Hu Y, Bolduc V, Chao KR, Nevado J, Lamuedra A, Largo R, Herrero-Beaumont G, Regadera J, Hernandez-Chico C, Tizzano EF, Martinez-Glez V, Carvajal JJ, Zong R, Nelson DL, Otaify GA, Temtamy S, Aglan M, Issa M, Bönnemann CG, Lapunzina P, Yoon G, Ruiz-Perez VL. Estañ MC, et al. Among authors: hawkins c. Nat Commun. 2019 Feb 15;10(1):797. doi: 10.1038/s41467-019-08548-9. Nat Commun. 2019. PMID: 30770808 Free PMC article.

8

Recurrent intractable seizures in children with cortical dysplasia adjacent to dysembryoplastic neuroepithelial tumor.

Sakuta R, Otsubo H, Nolan MA, Weiss SK, Hawkins C, Rutka JT, Chuang NA, Chuang SH, Snead OC 3rd. Sakuta R, et al. Among authors: hawkins c. J Child Neurol. 2005 Apr;20(4):377-84. doi: 10.1177/08830738050200041801. J Child Neurol. 2005. PMID: 15921242

9

Grandpa and I have dystrophinopathy?: approach to asymptomatic hyperCKemia.

Saengpattrachai M, Ray PN, Hawkins CE, Berzen A, Banwell BL. Saengpattrachai M, et al. Pediatr Neurol. 2006 Aug;35(2):145-9. doi: 10.1016/j.pediatrneurol.2006.01.004. Pediatr Neurol. 2006. PMID: 16876015

10

Diffuse intrinsic brainstem tumors in neonates. Report of two cases.

Shah NC, Ray A, Bartels U, Rutka J, Bouffet E, Drake J, Hawkins CE, Huang A. Shah NC, et al. Among authors: hawkins ce. J Neurosurg Pediatr. 2008 May;1(5):382-5. doi: 10.3171/PED/2008/1/5/382. J Neurosurg Pediatr. 2008. PMID: 18447673

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