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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2019 | 3 |
2020 | 1 |
2024 | 0 |
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3 results
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RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.
Ann Clin Transl Neurol. 2020 Jan;7(1):83-93. doi: 10.1002/acn3.50960. Epub 2019 Dec 8.
Ann Clin Transl Neurol. 2020.
PMID: 31814314
Free PMC article.
From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations.
Gatti M, Magri S, Nanetti L, Sarto E, Di Bella D, Salsano E, Pantaleoni C, Mariotti C, Taroni F.
Gatti M, et al.
Am J Med Genet A. 2019 Nov;179(11):2277-2283. doi: 10.1002/ajmg.a.61339. Epub 2019 Aug 22.
Am J Med Genet A. 2019.
PMID: 31436889
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A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
Pareyson D, Stojkovic T, Reilly MM, Leonard-Louis S, Laurà M, Blake J, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Lévy N, Sacconi S, Guimarães-Costa R, Attarian S, Latour P, Solé G, Megarbane A, Horvath R, Ricci G, Choi BO, Schenone A, Gemelli C, Geroldi A, Sabatelli M, Luigetti M, Santoro L, Manganelli F, Quattrone A, Valentino P, Murakami T, Scherer SS, Dankwa L, Shy ME, Bacon CJ, Herrmann DN, Zambon A, Tramacere I, Pisciotta C, Magri S, Previtali SC, Bolino A.
Pareyson D, et al.
Ann Neurol. 2019 Jul;86(1):55-67. doi: 10.1002/ana.25500. Epub 2019 May 27.
Ann Neurol. 2019.
PMID: 31070812
Free PMC article.
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