Martorell L - Search Results

1

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.

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

Four sisters compound heterozygotes for the pre- and full mutation in fragile X syndrome and a complete inactivation of X-functional chromosome: implications for genetic counseling.

Martorell L, Nascimento MT, Colome R, Genovés J, Naudó M, Nascimento A. Martorell L, et al. J Hum Genet. 2011 Jan;56(1):87-90. doi: 10.1038/jhg.2010.140. Epub 2010 Nov 25. J Hum Genet. 2011. PMID: 21107340

4

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

5

Predisposition to epilepsy in fragile X syndrome: does the Val66Met polymorphism in the BDNF gene play a role?

Tondo M, Poo P, Naudó M, Ferrando T, Genovés J, Molero M, Martorell L. Tondo M, et al. Among authors: martorell l. Epilepsy Behav. 2011 Nov;22(3):581-3. doi: 10.1016/j.yebeh.2011.08.003. Epub 2011 Sep 3. Epilepsy Behav. 2011. PMID: 21890420

6

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

7

Screening for the presence of FMR1 premutation alleles in a Spanish population with fibromyalgia.

Martorell L, Tondo M, Garcia-Fructuoso F, Naudo M, Alegre C, Gamez J, Genovés J, Poo P. Martorell L, et al. Clin Rheumatol. 2012 Nov;31(11):1611-5. doi: 10.1007/s10067-012-2052-y. Epub 2012 Aug 18. Clin Rheumatol. 2012. PMID: 22903700

8

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

9

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.

10

Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II.

Frongia AL, Natera-de Benito D, Ortez C, Alarcón M, Borrás A, Medina J, Vigo M, Padrós N, Moya O, Armas J, Carrera-García L, Expósito-Escudero J, Cuadras D, Bernal S, Martorell L, Colomer J, Nascimento A. Frongia AL, et al. Among authors: martorell l. Neuromuscul Disord. 2019 Jul;29(7):517-524. doi: 10.1016/j.nmd.2019.04.003. Epub 2019 Apr 18. Neuromuscul Disord. 2019. PMID: 31201046

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