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

Year Number of Results
1981 1
1984 1
1989 1
1991 1
1992 2
1993 2
1995 1
1996 2
1997 1
1998 5
1999 1
2000 1
2001 1
2002 1
2003 2
2005 1
2006 1
2007 2
2009 1
2010 1
2011 4
2012 3
2013 2
2015 1
2016 1
2021 0
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36 results
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Page 1
Bilateral striatal lesions in childhood.
Roig M, Calopa M, Rovira A, Macaya A, Riudor E, Losada M. Roig M, et al. Among authors: riudor e. Pediatr Neurol. 1993 Sep-Oct;9(5):349-58. doi: 10.1016/0887-8994(93)90103-j. Pediatr Neurol. 1993. PMID: 8292209 Review.
Glycogen storage disease type III with hypoketosis.
Clemente M, Gussinyer M, Arranz JA, Riudor E, Yeste D, Albisu M, Carrascosa A. Clemente M, et al. Among authors: riudor e. J Pediatr Endocrinol Metab. 2010 Aug;23(8):833-6. doi: 10.1515/jpem.2010.134. J Pediatr Endocrinol Metab. 2010. PMID: 21073127
A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis.
Ferrer-Cortès X, Narbona J, Bujan N, Matalonga L, Del Toro M, Arranz JA, Riudor E, Garcia-Cazorla A, Jou C, O'Callaghan M, Pineda M, Montero R, Arias A, García-Villoria J, Alston CL, Taylor RW, Briones P, Ribes A, Tort F. Ferrer-Cortès X, et al. Among authors: riudor e. Mitochondrion. 2016 Jan;26:72-80. doi: 10.1016/j.mito.2015.12.004. Epub 2015 Dec 11. Mitochondrion. 2016. PMID: 26688339
Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.
Ferrer-Cortès X, Font A, Bujan N, Navarro-Sastre A, Matalonga L, Arranz JA, Riudor E, del Toro M, Garcia-Cazorla A, Campistol J, Briones P, Ribes A, Tort F. Ferrer-Cortès X, et al. Among authors: riudor e. J Inherit Metab Dis. 2013 Sep;36(5):841-7. doi: 10.1007/s10545-012-9565-z. Epub 2012 Nov 22. J Inherit Metab Dis. 2013. PMID: 23179554
A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.
Navarro-Sastre A, Tort F, Stehling O, Uzarska MA, Arranz JA, Del Toro M, Labayru MT, Landa J, Font A, Garcia-Villoria J, Merinero B, Ugarte M, Gutierrez-Solana LG, Campistol J, Garcia-Cazorla A, Vaquerizo J, Riudor E, Briones P, Elpeleg O, Ribes A, Lill R. Navarro-Sastre A, et al. Among authors: riudor e. Am J Hum Genet. 2011 Nov 11;89(5):656-67. doi: 10.1016/j.ajhg.2011.10.005. Am J Hum Genet. 2011. PMID: 22077971 Free PMC article.
36 results
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