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

Year Number of Results
2003 1
2004 2
2005 1
2006 1
2008 2
2009 3
2010 3
2011 2
2012 1
2013 5
2014 5
2015 3
2016 8
2017 2
2018 1
2019 4
2020 1
2021 1
2022 0
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Search Results

39 results
Results by year
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Page 1
Rett syndrome: revised diagnostic criteria and nomenclature.
Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK; RettSearch Consortium. Neul JL, et al. Ann Neurol. 2010 Dec;68(6):944-50. doi: 10.1002/ana.22124. Ann Neurol. 2010. PMID: 21154482 Free PMC article.
Peroxisome mosaics.
Roels F, Saudubray JM, Giros M, Mandel H, Eyskens F, Saracibar N, Atares Pueyo B, Prats JM, De Prest B, De Preter K, Pineda M, Krystkowiak P, Gootjes J, Wanders RJ, Espeel M, Poll-The BT. Roels F, et al. Among authors: pineda m. Adv Exp Med Biol. 2003;544:97-106. doi: 10.1007/978-1-4419-9072-3_14. Adv Exp Med Biol. 2003. PMID: 14713220 No abstract available.
Analysis of the Phenotypes in the Rett Networked Database.
Frullanti E, Papa FT, Grillo E, Clarke A, Ben-Zeev B, Pineda M, Bahi-Buisson N, Bienvenu T, Armstrong J, Roche Martinez A, Mari F, Nissenkorn A, Lo Rizzo C, Veneselli E, Russo S, Vignoli A, Pini G, Djuric M, Bisgaard AM, Ravn K, Bosnjak VM, Hayek J, Khajuria R, Montomoli B, Cogliati F, Pintaudi M, Hadzsiev K, Craiu D, Voinova V, Djukic A, Villard L, Renieri A. Frullanti E, et al. Among authors: pineda m. Int J Genomics. 2019 Mar 27;2019:6956934. doi: 10.1155/2019/6956934. eCollection 2019. Int J Genomics. 2019. PMID: 31049350 Free PMC article.
Clinical course of sly syndrome (mucopolysaccharidosis type VII).
Montaño AM, Lock-Hock N, Steiner RD, Graham BH, Szlago M, Greenstein R, Pineda M, Gonzalez-Meneses A, Çoker M, Bartholomew D, Sands MS, Wang R, Giugliani R, Macaya A, Pastores G, Ketko AK, Ezgü F, Tanaka A, Arash L, Beck M, Falk RE, Bhattacharya K, Franco J, White KK, Mitchell GA, Cimbalistiene L, Holtz M, Sly WS. Montaño AM, et al. Among authors: pineda m. J Med Genet. 2016 Jun;53(6):403-18. doi: 10.1136/jmedgenet-2015-103322. Epub 2016 Feb 23. J Med Genet. 2016. PMID: 26908836 Free PMC article.
Expanding the clinical phenotypes of MT-ATP6 mutations.
López-Gallardo E, Emperador S, Solano A, Llobet L, Martín-Navarro A, López-Pérez MJ, Briones P, Pineda M, Artuch R, Barraquer E, Jericó I, Ruiz-Pesini E, Montoya J. López-Gallardo E, et al. Among authors: pineda m. Hum Mol Genet. 2014 Dec 1;23(23):6191-200. doi: 10.1093/hmg/ddu339. Epub 2014 Jun 30. Hum Mol Genet. 2014. PMID: 24986921
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.
Jou C, Ortigoza-Escobar JD, O'Callaghan MM, Nascimento A, Darling A, Pias-Peleteiro L, Perez-Dueñas B, Pineda M, Codina A, Arjona C, Armstrong J, Palau F, Ribes A, Gort L, Tort F, Navas P, Ruiz-Pesini E, Emperador S, Lopez-Gallardo E, Bayona-Bafaluy P, Montero R, Jimenez-Mallebrera C, Garcia-Cazorla A, Montoya J, Yubero D, Artuch R. Jou C, et al. Among authors: pineda m. J Clin Med. 2019 Jan 10;8(1):68. doi: 10.3390/jcm8010068. J Clin Med. 2019. PMID: 30634555 Free PMC article.
Natural history of Sanfilippo syndrome in Spain.
Delgadillo V, O'Callaghan Mdel M, Gort L, Coll MJ, Pineda M. Delgadillo V, et al. Among authors: pineda m. Orphanet J Rare Dis. 2013 Dec 6;8:189. doi: 10.1186/1750-1172-8-189. Orphanet J Rare Dis. 2013. PMID: 24314109 Free PMC article.
CDKL5 variants: Improving our understanding of a rare neurologic disorder.
Hector RD, Kalscheuer VM, Hennig F, Leonard H, Downs J, Clarke A, Benke TA, Armstrong J, Pineda M, Bailey MES, Cobb SR. Hector RD, et al. Among authors: pineda m. Neurol Genet. 2017 Dec 15;3(6):e200. doi: 10.1212/NXG.0000000000000200. eCollection 2017 Dec. Neurol Genet. 2017. PMID: 29264392 Free PMC article.
Epilepsy spectrum in cerebral creatine transporter deficiency.
Fons C, Sempere A, Sanmartí FX, Arias A, Póo P, Pineda M, Ribes A, Merinero B, Vilaseca MA, Salomons GS, Artuch R, Campistol J. Fons C, et al. Among authors: pineda m. Epilepsia. 2009 Sep;50(9):2168-70. doi: 10.1111/j.1528-1167.2009.02142.x. Epilepsia. 2009. PMID: 19706062 Free article. No abstract available.
Epilepsy in Rett syndrome--lessons from the Rett networked database.
Nissenkorn A, Levy-Drummer RS, Bondi O, Renieri A, Villard L, Mari F, Mencarelli MA, Lo Rizzo C, Meloni I, Pineda M, Armstrong J, Clarke A, Bahi-Buisson N, Mejaski BV, Djuric M, Craiu D, Djukic A, Pini G, Bisgaard AM, Melegh B, Vignoli A, Russo S, Anghelescu C, Veneselli E, Hayek J, Ben-Zeev B. Nissenkorn A, et al. Among authors: pineda m. Epilepsia. 2015 Apr;56(4):569-76. doi: 10.1111/epi.12941. Epub 2015 Mar 19. Epilepsia. 2015. PMID: 25789914 Free article.
39 results