Stafstrom CE - Search Results

1

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.

Guillen Sacoto MJ, Tchasovnikarova IA, Torti E, Forster C, Andrew EH, Anselm I, Baranano KW, Briere LC, Cohen JS, Craigen WJ, Cytrynbaum C, Ekhilevitch N, Elrick MJ, Fatemi A, Fraser JL, Gallagher RC, Guerin A, Haynes D, High FA, Inglese CN, Kiss C, Koenig MK, Krier J, Lindstrom K, Marble M, Meddaugh H, Moran ES, Morel CF, Mu W, Muller EA 2nd, Nance J, Natowicz MR, Numis AL, Ostrem B, Pappas J, Stafstrom CE, Streff H, Sweetser DA, Szybowska M; Undiagnosed Diseases Network; Walker MA, Wang W, Weiss K, Weksberg R, Wheeler PG, Yoon G, Kingston RE, Juusola J. Guillen Sacoto MJ, et al. Among authors: stafstrom ce. Am J Hum Genet. 2020 Aug 6;107(2):352-363. doi: 10.1016/j.ajhg.2020.06.013. Epub 2020 Jul 20. Am J Hum Genet. 2020. PMID: 32693025 Free PMC article.

2

SCN8A Epileptic Encephalopathy: Detection of Fetal Seizures Guides Multidisciplinary Approach to Diagnosis and Treatment.

McNally MA, Johnson J, Huisman TA, Poretti A, Baranano KW, Baschat AA, Stafstrom CE. McNally MA, et al. Among authors: stafstrom ce. Pediatr Neurol. 2016 Nov;64:87-91. doi: 10.1016/j.pediatrneurol.2016.08.003. Epub 2016 Aug 16. Pediatr Neurol. 2016. PMID: 27659738

3

SYNGAP1 mutations: Clinical, genetic, and pathophysiological features.

Agarwal M, Johnston MV, Stafstrom CE. Agarwal M, et al. Among authors: stafstrom ce. Int J Dev Neurosci. 2019 Nov;78:65-76. doi: 10.1016/j.ijdevneu.2019.08.003. Epub 2019 Aug 24. Int J Dev Neurosci. 2019. PMID: 31454529 Review.

4

KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction.

Duis J, Dean S, Applegate C, Harper A, Xiao R, He W, Dollar JD, Sun LR, Waberski MB, Crawford TO, Hamosh A, Stafstrom CE. Duis J, et al. Among authors: stafstrom ce. Ann Neurol. 2016 Oct;80(4):633-7. doi: 10.1002/ana.24744. Epub 2016 Aug 24. Ann Neurol. 2016. PMID: 27463701 Free PMC article.

5

De Novo HECW2 Mutation Associated With Epilepsy, Developmental Decline, and Intellectual Disability: Case Report and Review of Literature.

Ullman NL, Smith-Hicks CL, Desai S, Stafstrom CE. Ullman NL, et al. Among authors: stafstrom ce. Pediatr Neurol. 2018 Aug;85:76-78. doi: 10.1016/j.pediatrneurol.2018.03.005. Epub 2018 Apr 4. Pediatr Neurol. 2018. PMID: 29807643 Review. No abstract available.

6

Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.

Zeiger WA, Sun LR, Bosemani T, Pearl PL, Stafstrom CE. Zeiger WA, et al. Among authors: stafstrom ce. Pediatr Neurol. 2016 May;58:113-5. doi: 10.1016/j.pediatrneurol.2015.10.009. Epub 2015 Nov 14. Pediatr Neurol. 2016. PMID: 27268762

7

Dysplasia and overgrowth: magnetic resonance imaging of pediatric brain abnormalities secondary to alterations in the mechanistic target of rapamycin pathway.

Shrot S, Hwang M, Stafstrom CE, Huisman TAGM, Soares BP. Shrot S, et al. Among authors: stafstrom ce. Neuroradiology. 2018 Feb;60(2):137-150. doi: 10.1007/s00234-017-1961-5. Epub 2017 Dec 26. Neuroradiology. 2018. PMID: 29279945 Review.

8

The Role of Diffusion Tensor Imaging in Detecting Hippocampal Injury Following Neonatal Hypoxic-Ischemic Encephalopathy.

Salas J, Reddy N, Orru E, Carson KA, Chavez-Valdez R, Burton VJ, Stafstrom CE, Northington FJ, Huisman TAGM. Salas J, et al. Among authors: stafstrom ce. J Neuroimaging. 2019 Mar;29(2):252-259. doi: 10.1111/jon.12572. Epub 2018 Oct 16. J Neuroimaging. 2019. PMID: 30325083 Free PMC article.

9

Seizure Susceptibility Correlates with Brain Injury in Male Mice Treated with Hypothermia after Neonatal Hypoxia-Ischemia.

McNally MA, Chavez-Valdez R, Felling RJ, Flock DL, Northington FJ, Stafstrom CE. McNally MA, et al. Among authors: stafstrom ce. Dev Neurosci. 2019 Feb 28:1-10. doi: 10.1159/000496468. Online ahead of print. Dev Neurosci. 2019. PMID: 30820019 Free PMC article.

10

Sex specific correlation between GABAergic disruption in the dorsal hippocampus and flurothyl seizure susceptibility after neonatal hypoxic-ischemic brain injury.

Lechner CR, McNally MA, St Pierre M, Felling RJ, Northington FJ, Stafstrom CE, Chavez-Valdez R. Lechner CR, et al. Among authors: stafstrom ce. Neurobiol Dis. 2021 Jan;148:105222. doi: 10.1016/j.nbd.2020.105222. Epub 2020 Dec 9. Neurobiol Dis. 2021. PMID: 33309937 Free PMC article.

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