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189 results

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Page 1
Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic.
Boczek NJ, Sigafoos AN, Zimmermann MT, Maus RL, Cousin MA, Blackburn PR, Urrutia R, Clark KJ, Patterson MC, Wick MJ, Klee EW. Boczek NJ, et al. Among authors: patterson mc. Clin Case Rep. 2016 Aug 15;4(9):885-95. doi: 10.1002/ccr3.655. eCollection 2016 Sep. Clin Case Rep. 2016. PMID: 27648269 Free PMC article.
Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.
Mao R, Aylsworth AS, Potter N, Wilson WG, Breningstall G, Wick MJ, Babovic-Vuksanovic D, Nance M, Patterson MC, Gomez CM, Snow K. Mao R, et al. Among authors: patterson mc. Am J Med Genet. 2002 Jul 15;110(4):338-45. doi: 10.1002/ajmg.10467. Am J Med Genet. 2002. PMID: 12116207
Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay.
Weyhrauch DL, Ye D, Boczek NJ, Tester DJ, Gavrilova RH, Patterson MC, Wieben ED, Ackerman MJ. Weyhrauch DL, et al. Among authors: patterson mc. Pediatr Neurol. 2016 Feb;55:46-51. doi: 10.1016/j.pediatrneurol.2015.10.014. Epub 2015 Nov 6. Pediatr Neurol. 2016. PMID: 26739101
De Novo DNM1L Variant in a Teenager With Progressive Paroxysmal Dystonia and Lethal Super-refractory Myoclonic Status Epilepticus.
Ryan CS, Fine AL, Cohen AL, Schiltz BM, Renaud DL, Wirrell EC, Patterson MC, Boczek NJ, Liu R, Babovic-Vuksanovic D, Chan DC, Payne ET. Ryan CS, et al. Among authors: patterson mc. J Child Neurol. 2018 Sep;33(10):651-658. doi: 10.1177/0883073818778203. Epub 2018 Jun 7. J Child Neurol. 2018. PMID: 29877124 Free PMC article. Review.
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.
Pant DC, Dorboz I, Schluter A, Fourcade S, Launay N, Joya J, Aguilera-Albesa S, Yoldi ME, Casasnovas C, Willis MJ, Ruiz M, Ville D, Lesca G, Siquier-Pernet K, Desguerre I, Yan H, Wang J, Burmeister M, Brady L, Tarnopolsky M, Cornet C, Rubbini D, Terriente J, James KN, Musaev D, Zaki MS, Patterson MC, Lanpher BC, Klee EW, Pinto E Vairo F, Wohler E, Sobreira NLM, Cohen JS, Maroofian R, Galehdari H, Mazaheri N, Shariati G, Colleaux L, Rodriguez D, Gleeson JG, Pujades C, Fatemi A, Boespflug-Tanguy O, Pujol A. Pant DC, et al. Among authors: patterson mc. J Clin Invest. 2019 Mar 1;129(3):1240-1256. doi: 10.1172/JCI123959. Epub 2019 Feb 11. J Clin Invest. 2019. PMID: 30620337 Free PMC article.
Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO.
Sewani M, Nugent K, Blackburn PR, Tarnowski JM, Hernandez-Garcia A, Amiel J, Whalen S, Keren B, Courtin T, Rosenfeld JA, Yang Y, Patterson MC, Pichurin P, McLean SD, Scott DA. Sewani M, et al. Among authors: patterson mc. Am J Med Genet A. 2020 Apr;182(4):652-658. doi: 10.1002/ajmg.a.61466. Epub 2019 Dec 28. Am J Med Genet A. 2020. PMID: 31883306
Acetylation turns leucine into a drug by membrane transporter switching.
Churchill GC, Strupp M, Factor C, Bremova-Ertl T, Factor M, Patterson MC, Platt FM, Galione A. Churchill GC, et al. Among authors: patterson mc. Sci Rep. 2021 Aug 4;11(1):15812. doi: 10.1038/s41598-021-95255-5. Sci Rep. 2021. PMID: 34349180 Free PMC article.
189 results