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Items: 1 to 50 of 155

1.

Okur-Chung neurodevelopmental syndrome in a patient from Spain.

Martinez-Monseny AF, Casas-Alba D, Arjona C, Bolasell M, Casano P, Muchart J, Ramos F, Martorell L, Palau F, García-Alix A, Serrano M.

Am J Med Genet A. 2019 Nov 15. doi: 10.1002/ajmg.a.61405. [Epub ahead of print]

PMID:
31729156
2.

Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease.

Pillai NR, Yubero D, Shayota BJ, Oyarzábal A, Ghosh R, Sun Q, Azamian MS, Arjona C, Brandi N, Palau F, Lalani SR, Artuch R, García-Cazorla A, Scott DA.

Am J Med Genet A. 2019 Dec;179(12):2459-2468. doi: 10.1002/ajmg.a.61357. Epub 2019 Sep 13.

PMID:
31520464
3.

Neuroinflammation in the pathogenesis of axonal Charcot-Marie-Tooth disease caused by lack of GDAP1.

Fernandez-Lizarbe S, Civera-Tregón A, Cantarero L, Herrer I, Juarez P, Hoenicka J, Palau F.

Exp Neurol. 2019 Oct;320:113004. doi: 10.1016/j.expneurol.2019.113004. Epub 2019 Jul 2.

PMID:
31271761
4.

CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.

Carrera-García L, Natera-de Benito D, Dieterich K, de la Banda MGG, Felter A, Inarejos E, Codina A, Jou C, Roldan M, Palau F, Hoenicka J, Pijuan J, Ortez C, Expósito-Escudero J, Durand C, Nugues F, Jimenez-Mallebrera C, Colomer J, Carlier RY, Lochmüller H, Quijano-Roy S, Nascimento A.

Am J Med Genet A. 2019 Jun;179(6):915-926. doi: 10.1002/ajmg.a.61122. Epub 2019 Mar 14.

PMID:
30868735
5.

Phosphodiesterase Inhibitors Revert Axonal Dystrophy in Friedreich's Ataxia Mouse Model.

Mollá B, Muñoz-Lasso DC, Calap P, Fernandez-Vilata A, de la Iglesia-Vaya M, Pallardó FV, Moltó MD, Palau F, Gonzalez-Cabo P.

Neurotherapeutics. 2019 Apr;16(2):432-449. doi: 10.1007/s13311-018-00706-z.

PMID:
30761510
6.

Calcium Deregulation and Mitochondrial Bioenergetics in GDAP1-Related CMT Disease.

González-Sánchez P, Satrústegui J, Palau F, Del Arco A.

Int J Mol Sci. 2019 Jan 18;20(2). pii: E403. doi: 10.3390/ijms20020403. Review.

7.

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.

J Clin Med. 2019 Jan 10;8(1). pii: E68. doi: 10.3390/jcm8010068.

8.

Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations.

Casas-Alba D, Martínez-Monseny A, Pino-Ramírez RM, Alsina L, Castejón E, Navarro-Vilarrubí S, Pérez-Dueñas B, Serrano M, Palau F, García-Alix A.

Hum Mutat. 2018 Dec;39(12):1752-1763. doi: 10.1002/humu.23638. Epub 2018 Sep 17. Review.

PMID:
30176098
9.

Mutation of PACS1: the milder end of the spectrum.

Martinez-Monseny A, Bolasell M, Arjona C, Martorell L, Yubero D, Arsmtrong J, Maynou J, Fernandez G, Del Carmen Salgado M, Palau F, Serrano M.

Clin Dysmorphol. 2018 Oct;27(4):148-150. doi: 10.1097/MCD.0000000000000237. No abstract available.

PMID:
30113927
10.

Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.

Batllori M, Molero-Luis M, Ormazabal A, Montero R, Sierra C, Ribes A, Montoya J, Ruiz-Pesini E, O'Callaghan M, Pias L, Nascimento A, Palau F, Armstrong J, Yubero D, Ortigoza-Escobar JD, García-Cazorla A, Artuch R.

J Inherit Metab Dis. 2018 Nov;41(6):1147-1158. doi: 10.1007/s10545-018-0224-x. Epub 2018 Jul 4.

PMID:
29974349
11.

Correction: ANKK1 is found in myogenic precursors and muscle fibers subtypes with glycolytic metabolism.

Rubio-Solsona E, Martí S, Vílchez JJ, Palau F, Hoenicka J.

PLoS One. 2018 Jun 6;13(6):e0198880. doi: 10.1371/journal.pone.0198880. eCollection 2018.

12.

ANKK1 is found in myogenic precursors and muscle fibers subtypes with glycolytic metabolism.

Rubio-Solsona E, Martí S, Vílchez JJ, Palau F, Hoenicka J.

PLoS One. 2018 May 14;13(5):e0197254. doi: 10.1371/journal.pone.0197254. eCollection 2018. Erratum in: PLoS One. 2018 Jun 6;13(6):e0198880.

13.

[The human genome and medicine].

Palau F, García-Alix A.

An Pediatr (Barc). 2018 Jul;89(1):1-2. doi: 10.1016/j.anpedi.2018.04.009. Epub 2018 May 10. Spanish. No abstract available.

14.

Increased prevalence of pathogenic bacteria in the gut microbiota of infants at risk of developing celiac disease: The PROFICEL study.

Olivares M, Benítez-Páez A, de Palma G, Capilla A, Nova E, Castillejo G, Varea V, Marcos A, Garrote JA, Polanco I, Donat E, Ribes-Koninckx C, Calvo C, Ortigosa L, Palau F, Sanz Y.

Gut Microbes. 2018 Nov 2;9(6):551-558. doi: 10.1080/19490976.2018.1451276. Epub 2018 May 9.

15.

Gut microbiota trajectory in early life may predict development of celiac disease.

Olivares M, Walker AW, Capilla A, Benítez-Páez A, Palau F, Parkhill J, Castillejo G, Sanz Y.

Microbiome. 2018 Feb 20;6(1):36. doi: 10.1186/s40168-018-0415-6.

16.

Behavioral addictions in early-onset Parkinson disease are associated with DRD3 variants.

Castro-Martínez XH, García-Ruiz PJ, Martínez-García C, Martínez-Castrillo JC, Vela L, Mata M, Martínez-Torres I, Feliz-Feliz C, Palau F, Hoenicka J.

Parkinsonism Relat Disord. 2018 Apr;49:100-103. doi: 10.1016/j.parkreldis.2018.01.010. Epub 2018 Jan 12.

PMID:
29361389
17.

Motion estimation of subcellular structures from fluorescence microscopy images.

Vallmitjana A, Civera-Tregon A, Hoenicka J, Palau F, Benitez R.

Conf Proc IEEE Eng Med Biol Soc. 2017 Jul;2017:4419-4422. doi: 10.1109/EMBC.2017.8037836.

PMID:
29060877
18.

Reversible Axonal Dystrophy by Calcium Modulation in Frataxin-Deficient Sensory Neurons of YG8R Mice.

Mollá B, Muñoz-Lasso DC, Riveiro F, Bolinches-Amorós A, Pallardó FV, Fernandez-Vilata A, de la Iglesia-Vaya M, Palau F, Gonzalez-Cabo P.

Front Mol Neurosci. 2017 Aug 30;10:264. doi: 10.3389/fnmol.2017.00264. eCollection 2017.

19.

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.

Sivera R, Frasquet M, Lupo V, García-Sobrino T, Blanco-Arias P, Pardo J, Fernández-Torrón R, de Munain AL, Márquez-Infante C, Villarreal L, Carbonell P, Rojas-García R, Segovia S, Illa I, Frongia AL, Nascimento A, Ortez C, García-Romero MDM, Pascual SI, Pelayo-Negro AL, Berciano J, Guerrero A, Casasnovas C, Camacho A, Esteban J, Chumillas MJ, Barreiro M, Díaz C, Palau F, Vílchez JJ, Espinós C, Sevilla T.

Sci Rep. 2017 Jul 27;7(1):6677. doi: 10.1038/s41598-017-06894-6.

20.

Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients.

Soldevilla B, Cuevas-Martín C, Ibáñez C, Santacatterina F, Alberti MA, Simó C, Casasnovas C, Márquez-Infante C, Sevilla T, Pascual SI, Sánchez-Aragó M, Espinos C, Palau F, Cuezva JM.

PLoS One. 2017 Jun 2;12(6):e0178376. doi: 10.1371/journal.pone.0178376. eCollection 2017.

21.

Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease.

García-Sobrino T, Blanco-Arias P, Palau F, Espinós C, Ramirez L, Estela A, San Millán B, Arias M, Sobrido MJ, Pardo J.

Neuromuscul Disord. 2017 Jul;27(7):667-672. doi: 10.1016/j.nmd.2017.01.008. Epub 2017 Jan 17.

PMID:
28236508
22.

CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca2+ entry-stimulated respiration.

González-Sánchez P, Pla-Martín D, Martínez-Valero P, Rueda CB, Calpena E, Del Arco A, Palau F, Satrústegui J.

Sci Rep. 2017 Feb 21;7:42993. doi: 10.1038/srep42993.

23.

Dysfunctional mitochondrial fission impairs cell reprogramming.

Prieto J, León M, Ponsoda X, García-García F, Bort R, Serna E, Barneo-Muñoz M, Palau F, Dopazo J, López-García C, Torres J.

Cell Cycle. 2016 Dec;15(23):3240-3250. Epub 2016 Oct 18.

24.

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.

Yubero D, Brandi N, Ormazabal A, Garcia-Cazorla À, Pérez-Dueñas B, Campistol J, Ribes A, Palau F, Artuch R, Armstrong J; Working Group.

PLoS One. 2016 May 31;11(5):e0156359. doi: 10.1371/journal.pone.0156359. eCollection 2016.

25.

Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation.

Frasquet M, Chumillas MJ, Vílchez JJ, Márquez-Infante C, Palau F, Vázquez-Costa JF, Lupo V, Espinós C, Sevilla T.

J Neurol Neurosurg Psychiatry. 2016 Nov;87(11):1265-1268. doi: 10.1136/jnnp-2015-312890. Epub 2016 Apr 15. No abstract available.

PMID:
27083531
26.

Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich's ataxia.

Mollá B, Riveiro F, Bolinches-Amorós A, Muñoz-Lasso DC, Palau F, González-Cabo P.

Dis Model Mech. 2016 Jun 1;9(6):647-57. doi: 10.1242/dmm.024273. Epub 2016 Apr 14.

27.

Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.

Sevilla T, Lupo V, Martínez-Rubio D, Sancho P, Sivera R, Chumillas MJ, García-Romero M, Pascual-Pascual SI, Muelas N, Dopazo J, Vílchez JJ, Palau F, Espinós C.

Brain. 2016 Jan;139(Pt 1):62-72. doi: 10.1093/brain/awv311. Epub 2015 Oct 24.

PMID:
26497905
28.

Biomarkers research in neuromuscular disease Charcot-Marie-Tooth.

Seco-Cervera M, Ibañez-Cabellos JS, Garcia-Gimenez JL, Espinos C, Palau F, Pallardo FV.

Free Radic Biol Med. 2014 Oct;75 Suppl 1:S48-9. doi: 10.1016/j.freeradbiomed.2014.10.814. Epub 2014 Dec 10.

PMID:
26461392
29.

Evolutionary History of the Smyd Gene Family in Metazoans: A Framework to Identify the Orthologs of Human Smyd Genes in Drosophila and Other Animal Species.

Calpena E, Palau F, Espinós C, Galindo MI.

PLoS One. 2015 Jul 31;10(7):e0134106. doi: 10.1371/journal.pone.0134106. eCollection 2015.

30.

The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.

Sevilla T, Sivera R, Martínez-Rubio D, Lupo V, Chumillas MJ, Calpena E, Dopazo J, Vílchez JJ, Palau F, Espinós C.

Eur J Neurol. 2015 Dec;22(12):1548-55. doi: 10.1111/ene.12782. Epub 2015 Jul 24.

PMID:
26204789
31.

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.

Expert Rev Mol Diagn. 2015;15(8):1049-59. doi: 10.1586/14737159.2015.1062727. Epub 2015 Jul 4. Review.

PMID:
26144946
32.

Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathy.

Barneo-Muñoz M, Juárez P, Civera-Tregón A, Yndriago L, Pla-Martin D, Zenker J, Cuevas-Martín C, Estela A, Sánchez-Aragó M, Forteza-Vila J, Cuezva JM, Chrast R, Palau F.

PLoS Genet. 2015 Apr 10;11(4):e1005115. doi: 10.1371/journal.pgen.1005115. eCollection 2015 Apr.

33.

The addiction-related gene ANKK1 in Parkinsonian patients with impulse control disorder.

Hoenicka J, García-Ruiz PJ, Ponce G, Herranz A, Martínez-Rubio D, Pérez-Santamarina E, Palau F.

Neurotox Res. 2015 Apr;27(3):205-8. doi: 10.1007/s12640-014-9504-x. Epub 2014 Dec 2.

PMID:
25447970
34.

Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.

Pla-Martín D, Calpena E, Lupo V, Márquez C, Rivas E, Sivera R, Sevilla T, Palau F, Espinós C.

Hum Mol Genet. 2015 Jan 1;24(1):213-29. doi: 10.1093/hmg/ddu440. Epub 2014 Aug 28.

PMID:
25168384
35.

The HLA-DQ2 genotype selects for early intestinal microbiota composition in infants at high risk of developing coeliac disease.

Olivares M, Neef A, Castillejo G, Palma GD, Varea V, Capilla A, Palau F, Nova E, Marcos A, Polanco I, Ribes-Koninckx C, Ortigosa L, Izquierdo L, Sanz Y.

Gut. 2015 Mar;64(3):406-17. doi: 10.1136/gutjnl-2014-306931. Epub 2014 Jun 17.

PMID:
24939571
36.

A novel locus for a hereditary recurrent neuropathy on chromosome 21q21.

Calpena E, Martínez-Rubio D, Arpa J, García-Peñas JJ, Montaner D, Dopazo J, Palau F, Espinós C.

Neuromuscul Disord. 2014 Aug;24(8):660-5. doi: 10.1016/j.nmd.2014.04.004. Epub 2014 May 9.

PMID:
24878226
37.

Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism.

Bolinches-Amorós A, Mollá B, Pla-Martín D, Palau F, González-Cabo P.

Front Cell Neurosci. 2014 May 13;8:124. doi: 10.3389/fncel.2014.00124. eCollection 2014.

38.

Vestibular impairment in Charcot-Marie-Tooth disease type 4C.

Pérez-Garrigues H, Sivera R, Vílchez JJ, Espinós C, Palau F, Sevilla T.

J Neurol Neurosurg Psychiatry. 2014 Jul;85(7):824-7. doi: 10.1136/jnnp-2013-307421. Epub 2014 Mar 10.

PMID:
24614092
39.

A multirate control strategy to the slow sensors problem: an interactive simulation tool for controller assisted design.

Salt J, Cuenca Á, Palau F, Dormido S.

Sensors (Basel). 2014 Feb 27;14(3):4086-110. doi: 10.3390/s140304086.

40.

Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.

Sivera R, Sevilla T, Vílchez JJ, Martínez-Rubio D, Chumillas MJ, Vázquez JF, Muelas N, Bataller L, Millán JM, Palau F, Espinós C.

Neurology. 2013 Oct 29;81(18):1617-25. doi: 10.1212/WNL.0b013e3182a9f56a. Epub 2013 Sep 27.

41.

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.

Bladen CL, Rafferty K, Straub V, Monges S, Moresco A, Dawkins H, Roy A, Chamova T, Guergueltcheva V, Korngut L, Campbell C, Dai Y, Barišić N, Kos T, Brabec P, Rahbek J, Lahdetie J, Tuffery-Giraud S, Claustres M, Leturcq F, Ben Yaou R, Walter MC, Schreiber O, Karcagi V, Herczegfalvi A, Viswanathan V, Bayat F, de la Caridad Guerrero Sarmiento I, Ambrosini A, Ceradini F, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Oliveira J, Santos R, Neagu E, Butoianu N, Artemieva S, Rasic VM, Posada M, Palau F, Lindvall B, Bloetzer C, Karaduman A, Topaloğlu H, Inal S, Oflazer P, Stringer A, Shatillo AV, Martin AS, Peay H, Flanigan KM, Salgado D, von Rekowski B, Lynn S, Heslop E, Gainotti S, Taruscio D, Kirschner J, Verschuuren J, Bushby K, Béroud C, Lochmüller H.

Hum Mutat. 2013 Nov;34(11):1449-57. doi: 10.1002/humu.22390. Epub 2013 Aug 26.

PMID:
23913485
42.

Mitochondrial pathophysiology in Friedreich's ataxia.

González-Cabo P, Palau F.

J Neurochem. 2013 Aug;126 Suppl 1:53-64. doi: 10.1111/jnc.12303. Review.

43.

Sh3tc2 deficiency affects neuregulin-1/ErbB signaling.

Gouttenoire EA, Lupo V, Calpena E, Bartesaghi L, Schüpfer F, Médard JJ, Maurer F, Beckmann JS, Senderek J, Palau F, Espinós C, Chrast R.

Glia. 2013 Jul;61(7):1041-51. doi: 10.1002/glia.22493. Epub 2013 Apr 2.

PMID:
23553667
44.

Silencing of the Charcot-Marie-Tooth disease-associated gene GDAP1 induces abnormal mitochondrial distribution and affects Ca2+ homeostasis by reducing store-operated Ca2+ entry.

Pla-Martín D, Rueda CB, Estela A, Sánchez-Piris M, González-Sánchez P, Traba J, de la Fuente S, Scorrano L, Renau-Piqueras J, Alvarez J, Satrústegui J, Palau F.

Neurobiol Dis. 2013 Jul;55:140-51. doi: 10.1016/j.nbd.2013.03.010. Epub 2013 Mar 28.

PMID:
23542510
45.

5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes.

Calpena E, Casado M, Martínez-Rubio D, Nascimento A, Colomer J, Gargallo E, García-Cazorla A, Palau F, Artuch R, Espinós C.

JIMD Rep. 2013;7:123-8. doi: 10.1007/8904_2012_166. Epub 2012 Jul 6.

46.

Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.

Sevilla T, Martínez-Rubio D, Márquez C, Paradas C, Colomer J, Jaijo T, Millán JM, Palau F, Espinós C.

Clin Genet. 2013 Jun;83(6):565-70. doi: 10.1111/cge.12015. Epub 2012 Oct 10.

PMID:
22978647
47.

Guiametabolica.org: empowerment through internet tools in inherited metabolic diseases.

Armayones M, Vilaseca MA, Cutillas J, Fàbrega J, Fernández JJ, García M, Egea N, Pousada M, Gómez-Zuñiga B, Pérez-Payarols J, Artuch R, Palau F, Serrano M.

Orphanet J Rare Dis. 2012 Aug 21;7:53. doi: 10.1186/1750-1172-7-53.

48.

Neural and molecular features on Charcot-Marie-Tooth disease plasticity and therapy.

Juárez P, Palau F.

Neural Plast. 2012;2012:171636. doi: 10.1155/2012/171636. Epub 2012 Jun 13. Review.

49.

Influence of breastfeeding versus formula feeding on lymphocyte subsets in infants at risk of coeliac disease: the PROFICEL study.

Pozo-Rubio T, Capilla A, Mujico JR, de Palma G, Marcos A, Sanz Y, Polanco I, García-Novo MD, Castillejo G, Ribes-Koninckx C, Varea V, Palau F, Ortigosa L, Peña-Quintana L, Nova E.

Eur J Nutr. 2013 Mar;52(2):637-46. doi: 10.1007/s00394-012-0367-8. Epub 2012 May 11.

50.

Personalized medicine in rare diseases.

Palau F.

Per Med. 2012 Mar;9(2):137-141. doi: 10.2217/pme.12.2. No abstract available.

PMID:
29758812

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