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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.
Therapy of Niemann-Pick disease, type C.
Patterson MC, Platt F. Patterson MC, et al. Biochim Biophys Acta. 2004 Oct 11;1685(1-3):77-82. doi: 10.1016/j.bbalip.2004.08.013. Biochim Biophys Acta. 2004. PMID: 15465428 Review.
Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings.
Bremova-Ertl T, Schiffmann R, Patterson MC, Belmatoug N, Billette de Villemeur T, Bardins S, Frenzel C, Malinová V, Naumann S, Arndt J, Mengel E, Reinke J, Strobl R, Strupp M. Bremova-Ertl T, et al. Among authors: patterson mc. Front Neurol. 2018 Jan 15;8:711. doi: 10.3389/fneur.2017.00711. eCollection 2017. Front Neurol. 2018. PMID: 29379464 Free PMC article.
Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.
Patterson MC, Clayton P, Gissen P, Anheim M, Bauer P, Bonnot O, Dardis A, Dionisi-Vici C, Klünemann HH, Latour P, Lourenço CM, Ory DS, Parker A, Pocoví M, Strupp M, Vanier MT, Walterfang M, Marquardt T. Patterson MC, et al. Neurol Clin Pract. 2017 Dec;7(6):499-511. doi: 10.1212/CPJ.0000000000000399. Neurol Clin Pract. 2017. PMID: 29431164 Free PMC article. Review.
Hematopoietic cell transplantation for sialidosis type I.
Gupta AO, Patterson MC, Wood T, Eisengart JB, Orchard PJ, Lund TC. Gupta AO, et al. Among authors: patterson mc. Mol Genet Metab Rep. 2021 Dec 8;30:100832. doi: 10.1016/j.ymgmr.2021.100832. eCollection 2022 Mar. Mol Genet Metab Rep. 2021. PMID: 35242566 Free PMC article.
Free sialic acid storage disorder: Progress and promise.
Huizing M, Hackbarth ME, Adams DR, Wasserstein M, Patterson MC, Walkley SU, Gahl WA; FSASD Consortium. Huizing M, et al. Among authors: patterson mc. Neurosci Lett. 2021 Jun 11;755:135896. doi: 10.1016/j.neulet.2021.135896. Epub 2021 Apr 20. Neurosci Lett. 2021. PMID: 33862140 Free PMC article. Review.
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.
190 results