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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1988 1
1989 1
1990 1
1995 1
1996 1
1997 2
1998 1
1999 4
2000 1
2001 1
2002 1
2003 2
2004 3
2005 1
2006 1
2007 2
2008 2
2009 7
2010 3
2011 1
2012 3
2013 4
2014 7
2015 9
2016 9
2017 7
2018 7
2019 8
2020 8
2021 0
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Search Results

87 results
Results by year
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Page 1
Case definition and classification of leukodystrophies and leukoencephalopathies.
Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, Garbern J, Eichler F, Labauge P, Aubourg P, Rodriguez D, Patterson MC, Van Hove JL, Schmidt J, Wolf NI, Boespflug-Tanguy O, Schiffmann R, van der Knaap MS; GLIA Consortium. Vanderver A, et al. Among authors: patterson mc. Mol Genet Metab. 2015 Apr;114(4):494-500. doi: 10.1016/j.ymgme.2015.01.006. Epub 2015 Jan 29. Mol Genet Metab. 2015. PMID: 25649058 Free PMC article. Review.
Miglustat in Niemann-Pick disease type C patients: a review.
Pineda M, Walterfang M, Patterson MC. Pineda M, et al. Among authors: patterson mc. Orphanet J Rare Dis. 2018 Aug 15;13(1):140. doi: 10.1186/s13023-018-0844-0. Orphanet J Rare Dis. 2018. PMID: 30111334 Free PMC article. Review.
Clinical, Radiologic, and Prognostic Features of Myelitis Associated With Myelin Oligodendrocyte Glycoprotein Autoantibody.
Dubey D, Pittock SJ, Krecke KN, Morris PP, Sechi E, Zalewski NL, Weinshenker BG, Shosha E, Lucchinetti CF, Fryer JP, Lopez-Chiriboga AS, Chen JC, Jitprapaikulsan J, McKeon A, Gadoth A, Keegan BM, Tillema JM, Naddaf E, Patterson MC, Messacar K, Tyler KL, Flanagan EP. Dubey D, et al. Among authors: patterson mc. JAMA Neurol. 2019 Mar 1;76(3):301-309. doi: 10.1001/jamaneurol.2018.4053. JAMA Neurol. 2019. PMID: 30575890 Free PMC article.
Jeavons Syndrome: Clinical Features and Response to Treatment.
Smith KM, Youssef PE, Wirrell EC, Nickels KC, Payne ET, Britton JW, Shin C, Cascino GD, Patterson MC, Wong-Kisiel LC. Smith KM, et al. Among authors: patterson mc. Pediatr Neurol. 2018 Sep;86:46-51. doi: 10.1016/j.pediatrneurol.2018.06.001. Epub 2018 Jul 10. Pediatr Neurol. 2018. PMID: 30082241
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
Parikh S, Bernard G, Leventer RJ, van der Knaap MS, van Hove J, Pizzino A, McNeill NH, Helman G, Simons C, Schmidt JL, Rizzo WB, Patterson MC, Taft RJ, Vanderver A; GLIA Consortium. Parikh S, et al. Among authors: patterson mc. Mol Genet Metab. 2015 Apr;114(4):501-515. doi: 10.1016/j.ymgme.2014.12.434. Epub 2014 Dec 29. Mol Genet Metab. 2015. PMID: 25655951 Free PMC article. Review.
Niemann-Pick disease, type C and Roscoe Brady.
Patterson MC, Walkley SU. Patterson MC, et al. Mol Genet Metab. 2017 Jan-Feb;120(1-2):34-37. doi: 10.1016/j.ymgme.2016.11.008. Epub 2016 Nov 29. Mol Genet Metab. 2017. PMID: 27923544 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.
Neurological Complications of Measles (Rubeola).
Patterson MC. Patterson MC. Curr Neurol Neurosci Rep. 2020 Feb 7;20(2):2. doi: 10.1007/s11910-020-1023-y. Curr Neurol Neurosci Rep. 2020. PMID: 32034528 Review.
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, Héron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Lourenço CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH. Ng BG, et al. Among authors: patterson mc. Hum Mutat. 2019 Jul;40(7):908-925. doi: 10.1002/humu.23731. Epub 2019 Apr 24. Hum Mutat. 2019. PMID: 30817854 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
87 results
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