VanGerpen JA - Search Results

1

Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling.

Richter JE Jr, Vadlamudi C, Macklin SK, Samreen A, Helmi H, Broderick D, Mohammad AN, Hines SL, VanGerpen JA, Atwal PS, Caulfield TR. Richter JE Jr, et al. Among authors: vangerpen ja. Case Rep Genet. 2020 Jan 25;2020:3256539. doi: 10.1155/2020/3256539. eCollection 2020. Case Rep Genet. 2020. PMID: 32047678 Free PMC article.

2

Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia.

DeMeo NN, Burgess JD, Blackburn PR, Gass JM, Richter J, Atwal HK, van Gerpen JA, Atwal PS. DeMeo NN, et al. Clin Case Rep. 2017 Nov 20;6(1):8-13. doi: 10.1002/ccr3.1265. eCollection 2018 Jan. Clin Case Rep. 2017. PMID: 29375828 Free PMC article.

3

Expanded phenotype in a patient with spastic paraplegia 7.

Gass J, Blackburn PR, Jackson J, Macklin S, van Gerpen J, Atwal PS. Gass J, et al. Clin Case Rep. 2017 Aug 24;5(10):1620-1622. doi: 10.1002/ccr3.1109. eCollection 2017 Oct. Clin Case Rep. 2017. PMID: 29026558 Free PMC article.

4

Novel GFAP Variant in Adult-onset Alexander Disease With Progressive Ataxia and Palatal Tremor.

Gass JM, Cheema A, Jackson J, Blackburn PR, Van Gerpen J, Atwal PS. Gass JM, et al. Neurologist. 2017 Nov;22(6):247-248. doi: 10.1097/NRL.0000000000000153. Neurologist. 2017. PMID: 29095329

5

Expansion of the clinical spectrum associated with AARS2-related disorders.

Srivastava S, Butala A, Mahida S, Richter J, Mu W, Poretti A, Vernon H, VanGerpen J, Atwal PS, Middlebrooks EH, Zee DS, Naidu S. Srivastava S, et al. Am J Med Genet A. 2019 Aug;179(8):1556-1564. doi: 10.1002/ajmg.a.61188. Epub 2019 May 17. Am J Med Genet A. 2019. PMID: 31099476

6

A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics.

Blackburn PR, Zimmermann MT, Gass JM, Harris KG, Cousin MA, Boczek NJ, Ross OA, Klee EW, Brazis PW, Van Gerpen JA, Atwal PS. Blackburn PR, et al. BMC Med Genet. 2016 Dec 5;17(1):93. doi: 10.1186/s12881-016-0354-7. BMC Med Genet. 2016. PMID: 27919237 Free PMC article.

7

Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With Obesity.

Blackburn PR, Sullivan AE, Gerassimou AG, Kleinendorst L, Bersten DC, Cooiman M, Harris KG, Wierenga KJ, Klee EW, van Gerpen JA, Ross OA, van Haelst MM, Whitelaw ML, Caulfield TR, Atwal PS. Blackburn PR, et al. J Clin Endocrinol Metab. 2020 Jan 1;105(1):dgz192. doi: 10.1210/clinem/dgz192. J Clin Endocrinol Metab. 2020. PMID: 31872862

8

Anticipation in a family with primary familial brain calcification caused by an SLC20A2 variant.

Konno T, Blackburn PR, Rozen TD, van Gerpen JA, Ross OA, Atwal PS, Wszolek ZK. Konno T, et al. Neurol Neurochir Pol. 2018 May-Jun;52(3):386-389. doi: 10.1016/j.pjnns.2018.03.007. Epub 2018 Apr 11. Neurol Neurochir Pol. 2018. PMID: 29680161

9

A Case of Two Repeats: Huntington's Disease and Spinocerebellar Ataxia Type 8.

Gass JM, McKay J, Guthrie KJ, Boczek N, Atwal PS, Van Gerpen J. Gass JM, et al. Mov Disord Clin Pract. 2016 Jul 23;4(2):270-272. doi: 10.1002/mdc3.12401. eCollection 2017 Mar-Apr. Mov Disord Clin Pract. 2016. PMID: 30838266 Free PMC article. No abstract available.

10

Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids.

Van Gerpen JA, Wider C, Broderick DF, Dickson DW, Brown LA, Wszolek ZK. Van Gerpen JA, et al. Neurology. 2008 Sep 16;71(12):925-9. doi: 10.1212/01.wnl.0000325916.30701.21. Neurology. 2008. PMID: 18794495 Free PMC article.

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