Atwal PS - Search Results

1

Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain.

Coban MA, Blackburn PR, Whitelaw ML, Haelst MMV, Atwal PS, Caulfield TR. Coban MA, et al. Among authors: atwal ps. Biomolecules. 2020 Sep 12;10(9):1314. doi: 10.3390/biom10091314. Biomolecules. 2020. PMID: 32932609 Free PMC article.

2

Holocarboxylase synthetase deficiency pre and post newborn screening.

Donti TR, Blackburn PR, Atwal PS. Donti TR, et al. Among authors: atwal ps. Mol Genet Metab Rep. 2016 Apr 6;7:40-4. doi: 10.1016/j.ymgmr.2016.03.007. eCollection 2016 Jun. Mol Genet Metab Rep. 2016. PMID: 27114915 Free PMC article.

3

Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma.

Blackburn PR, Hickey RD, Nace RA, Giama NH, Kraft DL, Bordner AJ, Chaiteerakij R, McCormick JB, Radulovic M, Graham RP, Torbenson MS, Tortorelli S, Scott CR, Lindor NM, Milliner DS, Oglesbee D, Al-Qabandi W, Grompe M, Gavrilov DK, El-Youssef M, Clark KJ, Atwal PS, Roberts LR, Klee EW, Ekker SC. Blackburn PR, et al. Among authors: atwal ps. Hum Mutat. 2016 Oct;37(10):1097-105. doi: 10.1002/humu.23047. Epub 2016 Aug 8. Hum Mutat. 2016. PMID: 27397503 Free PMC article.

4

Early-onset limb-girdle muscular dystrophy-2L in a female athlete.

Blackburn PR, Selcen D, Jackson JL, Guthrie KJ, Cousin MA, Boczek NJ, Clift KE, Klee EW, Dimberg EL, Atwal PS. Blackburn PR, et al. Among authors: atwal ps. Muscle Nerve. 2017 May;55(5):E19-E21. doi: 10.1002/mus.25471. Epub 2017 Feb 23. Muscle Nerve. 2017. PMID: 27862037 No abstract available.

5

Case report: 5 year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS).

Sunde K, Blackburn PR, Cheema A, Gass J, Jackson J, Macklin S, Atwal PS. Sunde K, et al. Among authors: atwal ps. Mol Genet Metab Rep. 2016 Nov 18;9:94-97. doi: 10.1016/j.ymgmr.2016.11.002. eCollection 2016 Dec. Mol Genet Metab Rep. 2016. PMID: 27896131 Free PMC article.

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. Among authors: atwal ps. 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

Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing.

Clift K, Guthrie K, Klee EW, Boczek N, Cousin M, Blackburn P, Atwal P. Clift K, et al. Prion. 2016 Nov;10(6):502-506. doi: 10.1080/19336896.2016.1254858. Prion. 2016. PMID: 27929804 Free PMC article.

8

Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome.

Zimmermann MT, Urrutia RA, Blackburn PR, Cousin MA, Boczek NJ, Klee EW, Macmurdo C, Atwal PS. Zimmermann MT, et al. Among authors: atwal ps. Case Rep Genet. 2017;2017:7263780. doi: 10.1155/2017/7263780. Epub 2017 Jan 9. Case Rep Genet. 2017. PMID: 28163941 Free PMC article.

9

BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer.

Gass J, Tatro M, Blackburn P, Hines S, Atwal PS. Gass J, et al. Among authors: atwal ps. Clin Case Rep. 2017 Jan 4;5(2):104-107. doi: 10.1002/ccr3.793. eCollection 2017 Feb. Clin Case Rep. 2017. PMID: 28174632 Free PMC article.

10

Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient.

Gass J, Blackburn P, Jackson J, Harris K, Selcen D, Dimberg E, Atwal P. Gass J, et al. J Clin Neuromuscul Dis. 2017 Mar;18(3):152-156. doi: 10.1097/CND.0000000000000164. J Clin Neuromuscul Dis. 2017. PMID: 28221306 Free PMC article.

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