Martorell L - Search Results

1

TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment.

Fons C, Rizzu P, Garcia-Cazorla A, Martorell L, Ormazabal A, Artuch R, Campistol J, Fernandez-Alvarez E. Fons C, et al. Among authors: martorell l. Brain Dev. 2012 Mar;34(3):255-7. doi: 10.1016/j.braindev.2011.04.007. Epub 2011 May 8. Brain Dev. 2012. PMID: 21555194

2

Idebenone treatment in paediatric and adult patients with Friedreich ataxia: long-term follow-up.

Pineda M, Arpa J, Montero R, Aracil A, Domínguez F, Galván M, Mas A, Martorell L, Sierra C, Brandi N, García-Arumí E, Rissech M, Velasco D, Costa JA, Artuch R. Pineda M, et al. Among authors: martorell l. Eur J Paediatr Neurol. 2008 Nov;12(6):470-5. doi: 10.1016/j.ejpn.2007.11.006. Epub 2008 Jan 30. Eur J Paediatr Neurol. 2008. PMID: 18234531

3

Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.

Serrano M, Rebollo M, Depienne C, Rastetter A, Fernández-Álvarez E, Muchart J, Martorell L, Artuch R, Obeso JA, Pérez-Dueñas B. Serrano M, et al. Among authors: martorell l. Mov Disord. 2012 Sep 1;27(10):1295-8. doi: 10.1002/mds.25008. Epub 2012 Jul 6. Mov Disord. 2012. PMID: 22777947

4

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.

Sarrión P, Sangorrin A, Urreizti R, Delgado A, Artuch R, Martorell L, Armstrong J, Anton J, Torner F, Vilaseca MA, Nevado J, Lapunzina P, Asteggiano CG, Balcells S, Grinberg D. Sarrión P, et al. Among authors: martorell l. Sci Rep. 2013;3:1346. doi: 10.1038/srep01346. Sci Rep. 2013. PMID: 23439489 Free PMC article.

5

Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency.

Tondo M, Calpena E, Arriola G, Sanz P, Martorell L, Ormazabal A, Castejon E, Palacin M, Ugarte M, Espinos C, Perez B, Perez-Dueñas B, Pérez-Cerda C, Artuch R. Tondo M, et al. Among authors: martorell l. Mol Genet Metab. 2013 Nov;110(3):231-6. doi: 10.1016/j.ymgme.2013.06.021. Epub 2013 Jul 6. Mol Genet Metab. 2013. PMID: 23890588

6

Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet.

Ulate-Campos A, Fons C, Artuch R, Castejón E, Martorell L, Ozelius L, Pascual J, Campistol J. Ulate-Campos A, et al. Among authors: martorell l. Pediatr Neurol. 2014 Apr;50(4):377-9. doi: 10.1016/j.pediatrneurol.2013.11.017. Epub 2013 Dec 4. Pediatr Neurol. 2014. PMID: 24491413 Free article.

7

[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients].

Ulate-Campos A, Fons C, Campistol J, Martorell L, Cancho-Candela R, Eiris J, López-Laso E, Pineda M, Sans A, Velázquez R. Ulate-Campos A, et al. Among authors: martorell l. Med Clin (Barc). 2014 Jul 7;143(1):25-8. doi: 10.1016/j.medcli.2014.01.036. Epub 2014 Apr 24. Med Clin (Barc). 2014. PMID: 24768197 Spanish.

8

Clinical and genomic characterization of two patients with a duplication of 9q34: comparison and review of the literature.

Natera-de Benito D, Fons C, Ulate-Campos A, Martorell L, Póo P. Natera-de Benito D, et al. Among authors: martorell l. Clin Dysmorphol. 2015 Jan;24(1):38-43. doi: 10.1097/MCD.0000000000000064. Clin Dysmorphol. 2015. PMID: 25380321 Review. No abstract available.

9

De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.

Cristofoli F, Moss T, Moore HW, Devriendt K, Flanagan-Steet H, May M, Jones J, Roelens F, Fons C, Fernandez A, Martorell L, Selicorni A, Maitz S, Vitiello G, Van der Hoeven G, Skinner SA, Bollen M, Vermeesch JR, Steet R, Van Esch H. Cristofoli F, et al. Among authors: martorell l. Am J Hum Genet. 2020 Oct 1;107(4):753-762. doi: 10.1016/j.ajhg.2020.08.015. Epub 2020 Sep 9. Am J Hum Genet. 2020. PMID: 32910914 Free PMC article.

10

Plasma idebenone monitoring in Friedreich's ataxia patients during a long-term follow-up.

Paredes-Fuentes AJ, Cesar S, Montero R, Latre C, Genovès J, Martorell L, Cuadras D, Colom H, Pineda M, Del Mar O'Callaghan M, Sarquella-Brugada G, Darling A, Artuch R. Paredes-Fuentes AJ, et al. Among authors: martorell l. Biomed Pharmacother. 2021 Nov;143:112143. doi: 10.1016/j.biopha.2021.112143. Epub 2021 Sep 8. Biomed Pharmacother. 2021. PMID: 34507114 Free article.

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