DeBrosse S - Search Results

1

Case Report: 2-Year-old With Wilms Tumors, Familial Heterozygous DIS3L2 Mutation, and Cutis Marmorata Telangiectatica Congenita.

Friedman CD, DeBrosse S, Mitchell A, Horn J, Merrill M. Friedman CD, et al. Among authors: debrosse s. J Pediatr Hematol Oncol. 2023 Jan 1;45(1):e128-e130. doi: 10.1097/MPH.0000000000002498. Epub 2022 Jun 9. J Pediatr Hematol Oncol. 2023. PMID: 35700413 Free PMC article.

2

Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation.

Yano ST, Silver K, Young R, DeBrosse SD, Ebel RS, Swoboda KJ, Acsadi G. Yano ST, et al. Among authors: debrosse sd. Pediatr Neurol. 2017 Aug;73:101-105. doi: 10.1016/j.pediatrneurol.2017.04.022. Epub 2017 Apr 29. Pediatr Neurol. 2017. PMID: 28647130

3

A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency.

Bedoyan JK, Hecht L, Zhang S, Tarrant S, Bergin A, Demirbas D, Yang E, Shin HK, Grahame GJ, DeBrosse SD, Hoppel CL, Kerr DS, Berry GT. Bedoyan JK, et al. Among authors: debrosse sd. JIMD Rep. 2019 Jun 17;48(1):26-35. doi: 10.1002/jmd2.12054. eCollection 2019 Jul. JIMD Rep. 2019. PMID: 31392110 Free PMC article.

4

Neurologic disorders due to mitochondrial DNA mutations.

Debrosse S, Parikh S. Debrosse S, et al. Semin Pediatr Neurol. 2012 Dec;19(4):194-202. doi: 10.1016/j.spen.2012.09.006. Semin Pediatr Neurol. 2012. PMID: 23245552 Review.

5

Generalized Dystonia as a Prominent Feature in a Case of NUS1 Gene Mutation.

Gunzler SA, DeBrosse SD. Gunzler SA, et al. Among authors: debrosse sd. Can J Neurol Sci. 2021 May;48(3):433-434. doi: 10.1017/cjn.2020.204. Epub 2020 Sep 22. Can J Neurol Sci. 2021. PMID: 32959737 No abstract available.

6

A Genetics Pearl for Counseling Patients with Epsilon-Sarcoglycan Myoclonus-Dystonia.

Higinbotham AS, DeBrosse SD, Kilbane CW. Higinbotham AS, et al. Among authors: debrosse sd. Tremor Other Hyperkinet Mov (N Y). 2023 Aug 22;13:24. doi: 10.5334/tohm.783. eCollection 2023. Tremor Other Hyperkinet Mov (N Y). 2023. PMID: 37637852 Free PMC article.

7

Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN).

Gore E, Appleby BS, Cohen ML, DeBrosse SD, Leverenz JB, Miller BL, Siedlak SL, Zhu X, Lerner AJ. Gore E, et al. Among authors: debrosse sd. Neurocase. 2016 Oct;22(5):476-483. doi: 10.1080/13554794.2016.1247458. Epub 2016 Nov 1. Neurocase. 2016. PMID: 27801611 Free PMC article.

8

Mutations in SCN3A cause early infantile epileptic encephalopathy.

Zaman T, Helbig I, Božović IB, DeBrosse SD, Bergqvist AC, Wallis K, Medne L, Maver A, Peterlin B, Helbig KL, Zhang X, Goldberg EM. Zaman T, et al. Ann Neurol. 2018 Apr;83(4):703-717. doi: 10.1002/ana.25188. Epub 2018 Mar 30. Ann Neurol. 2018. PMID: 29466837 Free PMC article.

9

Inborn Errors of Metabolism with Acidosis: Organic Acidemias and Defects of Pyruvate and Ketone Body Metabolism.

Schillaci LP, DeBrosse SD, McCandless SE. Schillaci LP, et al. Among authors: debrosse sd. Pediatr Clin North Am. 2018 Apr;65(2):209-230. doi: 10.1016/j.pcl.2017.11.003. Epub 2017 Dec 28. Pediatr Clin North Am. 2018. PMID: 29502910 Review.

10

The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia.

Hannah WB, DeBrosse S, Kinghorn B, Strausbaugh S, Aitken ML, Rosenfeld M, Wolf WE, Knowles MR, Zariwala MA. Hannah WB, et al. Among authors: debrosse s. Mol Genet Genomic Med. 2019 Sep;7(9):e911. doi: 10.1002/mgg3.911. Epub 2019 Aug 1. Mol Genet Genomic Med. 2019. PMID: 31373179 Free PMC article. Review.

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