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Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
Am J Hum Genet. 2011 Sep 9;89(3):415-23. doi: 10.1016/j.ajhg.2011.07.014.
Am J Hum Genet. 2011.
PMID: 21855841
Free PMC article.
Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.
Bernard G, Thiffault I, Tetreault M, Putorti ML, Bouchard I, Sylvain M, Melançon S, Laframboise R, Langevin P, Bouchard JP, Vanasse M, Vanderver A, Sébire G, Brais B.
Bernard G, et al. Among authors: putorti ml.
Neurogenetics. 2010 Oct;11(4):457-64. doi: 10.1007/s10048-010-0251-8. Epub 2010 Jul 17.
Neurogenetics. 2010.
PMID: 20640464
Free PMC article.
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Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.
Rajadhyaksha AM, Elemento O, Puffenberger EG, Schierberl KC, Xiang JZ, Putorti ML, Berciano J, Poulin C, Brais B, Michaelides M, Weleber RG, Higgins JJ.
Rajadhyaksha AM, et al. Among authors: putorti ml.
Am J Hum Genet. 2010 Nov 12;87(5):643-54. doi: 10.1016/j.ajhg.2010.10.013.
Am J Hum Genet. 2010.
PMID: 21070897
Free PMC article.
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TACH leukodystrophy: locus refinement to chromosome 10q22.3-23.1.
Tétreault M, Putorti ML, Thiffault I, Sylvain M, Venderver A, Schiffmann R, Brais B, Bernard G.
Tétreault M, et al. Among authors: putorti ml.
Can J Neurol Sci. 2012 Jan;39(1):122-3. doi: 10.1017/s0317167100022174.
Can J Neurol Sci. 2012.
PMID: 22384513
No abstract available.
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Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood.
Srour M, Putorti ML, Schwartzentruber J, Bolduc V, Shevell MI; FORGE Canada Consortium; Poulin C, O'ferrall E, Buhas D, Majewski J, Brais B.
Srour M, et al. Among authors: putorti ml.
Muscle Nerve. 2014 Nov;50(5):775-9. doi: 10.1002/mus.24224. Epub 2014 Sep 16.
Muscle Nerve. 2014.
PMID: 24616084
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