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

Year Number of Results
1951 1
1985 1
1989 1
1990 2
1991 7
1993 4
1995 9
1996 5
1997 7
1998 4
1999 6
2000 6
2001 5
2002 3
2003 4
2004 2
2005 6
2006 6
2007 6
2008 6
2009 10
2010 9
2011 7
2012 8
2013 8
2014 8
2015 8
2016 5
2017 6
2018 9
2019 8
2020 9
2021 16
2022 8
2023 11
2024 7

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203 results

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Page 1
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M. Campuzano V, et al. Among authors: palau f. Science. 1996 Mar 8;271(5254):1423-7. doi: 10.1126/science.271.5254.1423. Science. 1996. PMID: 8596916
[The human genome and medicine].
Palau F, García-Alix A. Palau F, et al. An Pediatr (Engl Ed). 2018 Jul;89(1):1-2. doi: 10.1016/j.anpedi.2018.04.009. Epub 2018 May 10. An Pediatr (Engl Ed). 2018. PMID: 29753559 Free article. Spanish. No abstract available.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Among authors: palau f. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
Ethical questions concerning newborn genetic screening.
Esquerda M, Palau F, Lorenzo D, Cambra FJ, Bofarull M, Cusi V, Interdisciplinar En Bioetica G. Esquerda M, et al. Among authors: palau f. Clin Genet. 2021 Jan;99(1):93-98. doi: 10.1111/cge.13828. Epub 2020 Sep 2. Clin Genet. 2021. PMID: 32779199 Review.
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Nascimento A, Bruels CC, Donkervoort S, Foley AR, Codina A, Milisenda JC, Estrella EA, Li C, Pijuan J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-García L, Expósito-Escudero J, Yubero D, Martorell L, Pinal-Fernandez I, Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez C, Palau F, Ghosh PS, Darras BT, Jou C, Kunkel LM, Hoenicka J, Bönnemann CG, Kang PB, Natera-de Benito D. Nascimento A, et al. Among authors: palau f. Acta Neuropathol. 2023 Apr;145(4):479-496. doi: 10.1007/s00401-023-02551-7. Epub 2023 Feb 17. Acta Neuropathol. 2023. PMID: 36799992 Free PMC article.
Map of ethical conflicts of the CRISPR-Cas9 gene edition technique.
Lorenzo D, Esquerda M; Grupo Interdisciplinar en Bioética. Lorenzo D, et al. Med Clin (Barc). 2019 Nov 15;153(9):357-359. doi: 10.1016/j.medcli.2019.03.024. Epub 2019 Jun 25. Med Clin (Barc). 2019. PMID: 31248623 English, Spanish. No abstract available.
Molecular diagnosis of coenzyme Q10 deficiency.
Yubero D, Montero R, Armstrong J, Espinós C, Palau F, Santos-Ocaña C, Salviati L, Navas P, Artuch R. Yubero D, et al. Among authors: palau f. Expert Rev Mol Diagn. 2015;15(8):1049-59. doi: 10.1586/14737159.2015.1062727. Epub 2015 Jul 4. Expert Rev Mol Diagn. 2015. PMID: 26144946 Review.
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.
Brooks D, Burke E, Lee S, Eble TN, O'Leary M, Osei-Owusu I, Rehm HL, Dhar SU, Emrick L, Bick D, Nehrebecky M, Macnamara E, Casas-Alba D, Armstrong J, Prat C, Martínez-Monseny AF, Palau F, Liu P, Adams D; Undiagnosed Diseases Network; Lalani S, Rosenfeld JA, Burrage LC. Brooks D, et al. Among authors: palau f. Hum Genet. 2024 Mar;143(3):279-291. doi: 10.1007/s00439-024-02657-2. Epub 2024 Mar 7. Hum Genet. 2024. PMID: 38451290
Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset.
Porcu L, Fichera M, Nanetti L, Rulli E, Giunti P, Parkinson MH, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Indelicato E, Klopstock T, Stendel C, Rodríguez de Rivera FJ, Schöls L, Fleszar Z, Giordano I, Didszun C, Castaldo A, Rai M, Klockgether T, Pandolfo M, Schulz JB, Reetz K, Mariotti C; EFACTS Study Group. Porcu L, et al. Ann Clin Transl Neurol. 2023 Nov;10(11):2000-2012. doi: 10.1002/acn3.51886. Epub 2023 Aug 28. Ann Clin Transl Neurol. 2023. PMID: 37641437 Free PMC article.
Mitochondrial pathophysiology in Friedreich's ataxia.
González-Cabo P, Palau F. González-Cabo P, et al. Among authors: palau f. J Neurochem. 2013 Aug;126 Suppl 1:53-64. doi: 10.1111/jnc.12303. J Neurochem. 2013. PMID: 23859341 Free article. Review.
203 results