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2008 1
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26 results

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Page 1
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Wolf NI, et al. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339210 Free PMC article.
Holmes Tremor-Like Phenotype in DYT1 Dystonia.
Rodriguez-Quiroga S, Gonzalez-Moron D, Espay AJ, Kauffman MA. Rodriguez-Quiroga S, et al. Among authors: gonzalez moron d. Mov Disord Clin Pract. 2018 Feb 7;5(2):206-208. doi: 10.1002/mdc3.12585. eCollection 2018 Mar-Apr. Mov Disord Clin Pract. 2018. PMID: 30746402 Free PMC article. No abstract available.
The odyssey of complex neurogenetic disorders: From undetermined to positive.
Salinas V, Vega P, Marsili L, Pérez-Maturo J, Martínez N, Zavala L, González-Morón D, Medina N, Rodriguez-Quiroga SA, Amartino H, Maxit C, Sturchio A, Grimberg B, Duque K, Comas B, Silva W, Consalvo D, Sfaello I, Espay AJ, Kauffman MA. Salinas V, et al. Among authors: gonzalez moron d. Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):876-884. doi: 10.1002/ajmg.c.31848. Epub 2020 Oct 20. Am J Med Genet C Semin Med Genet. 2020. PMID: 33084218
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Pelletier F, Perrier S, Cayami FK, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, Sébire G, Lourenço CM, Bonkowsky JL, Catsman-Berrevoets C, Pinto PS, Tirupathi S, Strømme P, de Grauw T, Gieruszczak-Bialek D, Krägeloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko WS, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia ME, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson GM, Innes AM, Kauffman M, Kirwin SM, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melançon S, Misbahuddin A, Suri M, Monton FI, Moutton S, Murphy RPJ, Nickel M, Onay H, Orcesi S, Özkınay F, Patzer S, Pedro H, Pekic S, Pineda Marfa M, Pizzino A, Plecko B, Poll-The BT, Popovic V, Rating D, Rioux MF, Rodriguez Espinosa N, Ronan A, Ostergaard JR, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, Sønderberg Roos LK, Stevens CA, Synofz… See abstract for full author list ➔ Pelletier F, et al. Among authors: gonzalez moron d. J Clin Endocrinol Metab. 2021 Jan 23;106(2):e660-e674. doi: 10.1210/clinem/dgaa700. J Clin Endocrinol Metab. 2021. PMID: 33005949 Free PMC article.
Huntington's disease masquerading as spinocerebellar ataxia.
Rodríguez-Quiroga SA, Gonzalez-Morón D, Garretto N, Kauffman MA. Rodríguez-Quiroga SA, et al. Among authors: gonzalez moron d. BMJ Case Rep. 2013 Jul 12;2013:bcr2012008380. doi: 10.1136/bcr-2012-008380. BMJ Case Rep. 2013. PMID: 23853009 Free PMC article.
Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.
Rodríguez-Quiroga SA, Cordoba M, González-Morón D, Medina N, Vega P, Dusefante CV, Arakaki T, Garretto NS, Kauffman MA. Rodríguez-Quiroga SA, et al. Among authors: gonzalez moron d. Genet Res (Camb). 2015;97:e10. doi: 10.1017/s0016672315000087. Genet Res (Camb). 2015. PMID: 25989649 Free PMC article.
Timely diagnosis of Wilson's disease using whole exome sequencing.
Rodríguez-Quiroga SA, Rosales J, Arakaki T, Cordoba M, González-Morón D, Medina N, Garretto NS, Kauffman MA. Rodríguez-Quiroga SA, et al. Among authors: gonzalez moron d. Parkinsonism Relat Disord. 2015 Nov;21(11):1375-7. doi: 10.1016/j.parkreldis.2015.09.031. Epub 2015 Sep 25. Parkinsonism Relat Disord. 2015. PMID: 26410678 No abstract available.
26 results