Bardakjian TM - Search Results

1

Temporal trends and yield of clinical diagnostic genetic testing in adult neurology.

Guo MH, Bardakjian TM, Brzozowski MR, Scherer SS, Quinn C, Elman L, Orthmann-Murphy J, Tropea TF, Ellis CA, Gonzalez-Alegre P. Guo MH, et al. Among authors: bardakjian tm. Am J Med Genet A. 2021 Oct;185(10):2922-2928. doi: 10.1002/ajmg.a.62372. Epub 2021 Jun 2. Am J Med Genet A. 2021. PMID: 34075706

2

Clinical Reasoning: A 30-year-old man with progressive weakness and atrophy.

Quinn C, Moore SA, Bardakjian TM, Karam C. Quinn C, et al. Among authors: bardakjian tm. Neurology. 2016 Nov 8;87(19):e227-e230. doi: 10.1212/WNL.0000000000003320. Neurology. 2016. PMID: 27821570 Free PMC article. No abstract available.

3

Towards precision medicine.

Bardakjian T, Gonzalez-Alegre P. Bardakjian T, et al. Handb Clin Neurol. 2018;147:93-102. doi: 10.1016/B978-0-444-63233-3.00008-7. Handb Clin Neurol. 2018. PMID: 29325630 Review.

4

Genetic test utilization and diagnostic yield in adult patients with neurological disorders.

Bardakjian TM, Helbig I, Quinn C, Elman LB, McCluskey LF, Scherer SS, Gonzalez-Alegre P. Bardakjian TM, et al. Neurogenetics. 2018 May;19(2):105-110. doi: 10.1007/s10048-018-0544-x. Epub 2018 Mar 28. Neurogenetics. 2018. PMID: 29589152

5

Adult-Onset Myopathy in a Patient with Hypomorphic RAG2 Mutations and Combined Immune Deficiency.

Henrickson SE, Walter JE, Quinn C, Kanakry JA, Bardakjian T, Dimitrova D, Ujhazi B, Csomos K, Bosticardo M, Dobbs K, Nasrallah M, Notarangelo LD, Holland SM, Fadugba O. Henrickson SE, et al. J Clin Immunol. 2018 Aug;38(6):642-645. doi: 10.1007/s10875-018-0538-3. Epub 2018 Aug 30. J Clin Immunol. 2018. PMID: 30159811 Free PMC article. No abstract available.

6

A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family.

Dankwa L, Richardson J, Motley WW, Scavina M, Courel S, Bardakjian T, Züchner S, Scherer SS. Dankwa L, et al. Neuromuscul Disord. 2019 Feb;29(2):134-137. doi: 10.1016/j.nmd.2018.12.008. Epub 2018 Dec 21. Neuromuscul Disord. 2019. PMID: 30642740 Free PMC article.

7

Attitudes of Potential Participants Towards Molecular Therapy Trials in Huntington's Disease.

Bardakjian TM, Naczi KF, Gonzalez-Alegre P. Bardakjian TM, et al. J Huntingtons Dis. 2019;8(1):79-85. doi: 10.3233/JHD-180328. J Huntingtons Dis. 2019. PMID: 30689592 Free PMC article.

8

POLG mutations presenting as Charcot-Marie-Tooth disease.

Phillips J, Courel S, Rebelo AP, Bis-Brewer DM, Bardakjian T, Dankwa L, Hamedani AG, Züchner S, Scherer SS. Phillips J, et al. J Peripher Nerv Syst. 2019 Jun;24(2):213-218. doi: 10.1111/jns.12313. Epub 2019 Apr 10. J Peripher Nerv Syst. 2019. PMID: 30843307 Free PMC article.

9

Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss.

Narendra DP, Isonaka R, Nguyen D, Schindler AB, Kokkinis AD, Ehrlich D, Bardakjian TM, Goldstein DS, Liang TW, Gonzalez-Alegre P. Narendra DP, et al. Among authors: bardakjian tm. Neurology. 2019 Jun 4;92(23):1113-1115. doi: 10.1212/WNL.0000000000007614. Epub 2019 Apr 26. Neurology. 2019. PMID: 31028127 Free PMC article. No abstract available.

10

Addressing the Value of Multidisciplinary Clinical Care in Huntington's Disease: A Snapshot of a New Huntington's Disease Center.

Bardakjian TM, Klapper J, Carey A, Wood J, Pauly M, Gasper K, Lawler K, Tran B, Bell Y, Zwil A, Gonzalez-Alegre P. Bardakjian TM, et al. J Huntingtons Dis. 2019;8(4):501-507. doi: 10.3233/JHD-190355. J Huntingtons Dis. 2019. PMID: 31381522

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