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Best matches for Garcia‐Silva M[au]:

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. Maas RR et al. Ann Neurol. (2017)

Identification of the centromeres of <i>Leishmania major</i>: revealing the hidden pieces. Garcia-Silva MR et al. EMBO Rep. (2017)

Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene. Martín-Hernández E et al. Pediatr Dev Pathol. (2017)

Search results

Items: 1 to 50 of 72

1.

CLINICAL AND MOLECULAR DIAGNOSIS OF NON-PMM2 N-LINKED CONGENITAL DISORDERS OF GLYCOSYLATION IN SPAIN.

Medrano C, Vega A, Navarrete R, Ecay MJ, Calvo R, Pascual SI, Ruiz-Pons M, Toledo L, García Jiménez I, Arroyo I, Campo A, Couce ML, Domingo-Jiménez R, García Silva MT, G-Solana LG, Hierro L, Martín-Hernández E, Martínez-Pardo M, Roldán S, Tomás M, Cabrera JC, MártinezBugallo F, Martín Viota L, Vitoria I, Lefeber D, Girós ML, Serrano M, Ugarte M, Perez B, Perez-Cerdá C.

Clin Genet. 2019 Jan 17. doi: 10.1111/cge.13508. [Epub ahead of print]

PMID:
30653653
2.

Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program.

Navarrete R, Leal F, Vega AI, Morais-López A, Garcia-Silva MT, Martín-Hernández E, Quijada-Fraile P, Bergua A, Vives I, García-Jiménez I, Yahyaoui R, Pedrón-Giner C, Belanger-Quintana A, Stanescu S, Cañedo E, García-Campos O, Bueno-Delgado M, Delgado-Pecellín C, Vitoria I, Rausell MD, Balmaseda E, Couce ML, Desviat LR, Merinero B, Rodríguez-Pombo P, Ugarte M, Pérez-Cerdá C, Pérez B.

Eur J Hum Genet. 2019 Jan 9. doi: 10.1038/s41431-018-0330-0. [Epub ahead of print]

PMID:
30626930
3.

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry.

Huemer M, Diodato D, Martinelli D, Olivieri G, Blom H, Gleich F, Kölker S, Kožich V, Morris AA, Seifert B, Froese DS, Baumgartner MR, Dionisi-Vici C; EHOD consortium, Alcalde Martin C, Baethmann M, Ballhausen D, Blasco-Alonso J, Boy N, Bueno M, Burgos Peláez R, Cerone R, Chabrol B, Chapman KA, Couce ML, Crushell E, Dalmau Serra J, Diogo L, Ficicioglu C, García Jimenez MC, García Silva MT, Gaspar AM, Gautschi M, González-Lamuño D, Gouveia S, Grünewald S, Hendriksz C, Janssen MCH, Jesina P, Koch J, Konstantopoulou V, Lavigne C, Lund AM, Martins EG, Meavilla Olivas S, Mention K, Mochel F, Mundy H, Murphy E, Paquay S, Pedrón-Giner C, Ruiz Gómez MA, Santra S, Schiff M, Schwartz IV, Scholl-Bürgi S, Servais A, Skouma A, Tran C, Vives Piñera I, Walter J, Weisfeld-Adams J.

J Inherit Metab Dis. 2018 Sep 3. doi: 10.1007/s10545-018-0238-4. [Epub ahead of print]

PMID:
30178268
4.

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.

Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Hörster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB.

Ann Neurol. 2017 Dec;82(6):1004-1015. doi: 10.1002/ana.25110.

5.

Identification of the centromeres of Leishmania major: revealing the hidden pieces.

Garcia-Silva MR, Sollelis L, MacPherson CR, Stanojcic S, Kuk N, Crobu L, Bringaud F, Bastien P, Pagès M, Scherf A, Sterkers Y.

EMBO Rep. 2017 Nov;18(11):1968-1977. doi: 10.15252/embr.201744216. Epub 2017 Sep 21.

6.

Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene.

Martín-Hernández E, García-Silva MT, Quijada-Fraile P, Rodríguez-García ME, Rivera H, Hernández-Laín A, Coca-Robinot D, Fernández-Toral J, Arenas J, Martín MA, Martínez-Azorín F.

Pediatr Dev Pathol. 2017 Sep-Oct;20(5):416-420. doi: 10.1177/1093526616686439. Epub 2017 Jan 25.

PMID:
28812460
7.

Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.

Merinero B, Alcaide P, Martín-Hernández E, Morais A, García-Silva MT, Quijada-Fraile P, Pedrón-Giner C, Dulin E, Yahyaoui R, Egea JM, Belanger-Quintana A, Blasco-Alonso J, Fernandez Ruano ML, Besga B, Ferrer-López I, Leal F, Ugarte M, Ruiz-Sala P, Pérez B, Pérez-Cerdá C.

JIMD Rep. 2018;39:63-74. doi: 10.1007/8904_2017_40. Epub 2017 Jul 29.

8.

Carnitine palmitoyltransferase 1A deficiency: abnormal muscle biopsy findings in a child presenting with Reye's syndrome.

Bellusci M, Quijada-Fraile P, Barrio-Carreras D, Martin-Hernandez E, Garcia-Silva M, Merinero B, Perez B, Hernandez-Lain A.

J Inherit Metab Dis. 2017 Sep;40(5):751-752. doi: 10.1007/s10545-017-0041-7. Epub 2017 May 2. No abstract available.

PMID:
28466427
9.

Understanding mitochondrial diseases.

García-Silva MT, Martín MA, Morán M.

Clin Nutr. 2017 Jun;36(3):902. doi: 10.1016/j.clnu.2017.03.013. Epub 2017 Mar 16. No abstract available.

PMID:
28343800
10.

Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.

Couce ML, Aldamiz-Echevarría L, Bueno MA, Barros P, Belanger-Quintana A, Blasco J, García-Silva MT, Márquez-Armenteros AM, Vitoria I, Vives I, Navarrete R, Fernández-Marmiesse A, Pérez B, Pérez-Cerdá C.

J Hum Genet. 2017 Mar;62(3):355-360. doi: 10.1038/jhg.2016.144. Epub 2016 Dec 1.

PMID:
27904153
11.

[Transition process from paediatric to adult care in patients with inborn errors of metabolism. Consensus statement].

Pérez-López J, Ceberio-Hualde L, García Morillo JS, Grau-Junyent JM, Hermida Ameijeiras Á, López-Rodríguez M, Morales-Conejo M, Nava Mateos JJ, Aldámiz Echevarri Azuara LJ, Campistol J, Couce ML, García-Silva MT, González Gutiérrez-Solana L, Del Toro M; Sociedad Española de Medicina Interna (SEMI); Sociedad Española de Neurología Pediátrica (SENEP).

Med Clin (Barc). 2016 Dec 2;147(11):506.e1-506.e7. doi: 10.1016/j.medcli.2016.09.018. Epub 2016 Nov 3. Spanish.

PMID:
27816186
12.

New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.

Martín-Hernández E, Rodríguez-García ME, Camacho A, Matilla-Dueñas A, García-Silva MT, Quijada-Fraile P, Corral-Juan M, Tejada-Palacios P, de Las Heras RS, Arenas J, Martín MA, Martínez-Azorín F.

Neurogenetics. 2016 Oct;17(4):259-263. Epub 2016 Sep 28.

PMID:
27679995
13.

Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.

Yubero D, Montero R, Martín MA, Montoya J, Ribes A, Grazina M, Trevisson E, Rodriguez-Aguilera JC, Hargreaves IP, Salviati L, Navas P, Artuch R; CoQ deficiency study group, Jou C, Jimenez-Mallebrera C, Nascimento A, Pérez-Dueñas B, Ortez C, Ramos F, Colomer J, O'Callaghan M, Pineda M, García-Cazorla A, Espinós C, Ruiz A, Macaya A, Marcé-Grau A, Garcia-Villoria J, Arias A, Emperador S, Ruiz-Pesini E, Lopez-Gallardo E, Neergheen V, Simões M, Diogo L, Blázquez A, González-Quintana A, Delmiro A, Domínguez-González C, Arenas J, García-Silva MT, Martín E, Quijada P, Hernández-Laín A, Morán M, Rivas Infante E, Ávila Polo R, Paradas Lópe C, Bautista Lorite J, Martínez Fernández EM, Cortés AB, Sánchez-Cuesta A, Cascajo MV, Alcázar M, Brea-Calvo G.

Mitochondrion. 2016 Sep;30:51-8. doi: 10.1016/j.mito.2016.06.007. Epub 2016 Jun 30.

PMID:
27374853
14.

The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome.

Martín MÁ, García-Silva MT, Barcia G, Delmiro A, Rodríguez-García ME, Blázquez A, Francisco-Álvarez R, Martín-Hernández E, Quijada-Fraile P, Tejada-Palacios P, Arenas J, Santos C, Martínez-Azorín F.

Clin Genet. 2017 Jan;91(1):46-53. doi: 10.1111/cge.12815. Epub 2016 Jul 4.

PMID:
27256614
15.

Assessment of resting energy expenditure in pediatric mitochondrial diseases with indirect calorimetry.

Fiuza-Luces C, Santos-Lozano A, García-Silva MT, Martín-Hernández E, Quijada-Fraile P, Marín-Peiró M, Campos P, Arenas J, Lucía A, Martín MA, Morán M.

Clin Nutr. 2016 Dec;35(6):1484-1489. doi: 10.1016/j.clnu.2016.03.024. Epub 2016 Apr 7.

PMID:
27105558
16.

Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene.

Martín-Hernández E, García-Silva MT, Quijada-Fraile P, Rodríguez-García ME, Hernández-Laín A, Coca-Robinot D, Rivera H, Fernández-Toral J, Arenas J, Martín M, Martínez-Azorín F.

Pediatr Dev Pathol. 2016 Feb 29. [Epub ahead of print]

PMID:
26925861
17.

First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking.

Rodríguez-García ME, Martín-Hernández E, de Aragón AM, García-Silva MT, Quijada-Fraile P, Arenas J, Martín MA, Martínez-Azorín F.

Neurogenetics. 2016 Jan;17(1):51-6. doi: 10.1007/s10048-015-0463-z. Epub 2015 Oct 7.

PMID:
26445863
18.

Differential Expression of microRNAs in Thymic Epithelial Cells from Trypanosoma cruzi Acutely Infected Mice: Putative Role in Thymic Atrophy.

Linhares-Lacerda L, Palu CC, Ribeiro-Alves M, Paredes BD, Morrot A, Garcia-Silva MR, Cayota A, Savino W.

Front Immunol. 2015 Aug 21;6:428. doi: 10.3389/fimmu.2015.00428. eCollection 2015.

19.

[Atypical presentation and delayed diagnosis in a case of primary bile acid synthesis disorder].

Garfia Castillo C, Manzanares López-Manzanares J, García Silva MT.

Med Clin (Barc). 2015 Dec 21;145(12):e39-40. doi: 10.1016/j.medcli.2015.04.002. Epub 2015 May 26. Spanish. No abstract available.

PMID:
26021572
20.

Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome.

Quijada-Fraile P, O'Callaghan M, Martín-Hernández E, Montero R, Garcia-Cazorla À, de Aragón AM, Muchart J, Málaga I, Pardo R, García-Gonzalez P, Jou C, Montoya J, Emperador S, Ruiz-Pesini E, Arenas J, Martin MA, Ormazabal A, Pineda M, García-Silva MT, Artuch R.

Orphanet J Rare Dis. 2014 Dec 24;9:217. doi: 10.1186/s13023-014-0217-2.

21.

Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.

Martín-Hernández E, Aldámiz-Echevarría L, Castejón-Ponce E, Pedrón-Giner C, Couce ML, Serrano-Nieto J, Pintos-Morell G, Bélanger-Quintana A, Martínez-Pardo M, García-Silva MT, Quijada-Fraile P, Vitoria-Miñana I, Dalmau J, Lama-More RA, Bueno-Delgado MA, Del Toro-Riera M, García-Jiménez I, Sierra-Córcoles C, Ruiz-Pons M, Peña-Quintana LJ, Vives-Piñera I, Moráis A, Balmaseda-Serrano E, Meavilla S, Sanjurjo-Crespo P, Pérez-Cerdá C.

Orphanet J Rare Dis. 2014 Nov 30;9:187. doi: 10.1186/s13023-014-0187-4.

22.

Gene expression changes induced by Trypanosoma cruzi shed microvesicles in mammalian host cells: relevance of tRNA-derived halves.

Garcia-Silva MR, Cabrera-Cabrera F, das Neves RF, Souto-Padrón T, de Souza W, Cayota A.

Biomed Res Int. 2014;2014:305239. doi: 10.1155/2014/305239. Epub 2014 Apr 9.

23.

A particular set of small non-coding RNAs is bound to the distinctive Argonaute protein of Trypanosoma cruzi: insights from RNA-interference deficient organisms.

Garcia-Silva MR, Sanguinetti J, Cabrera-Cabrera F, Franzén O, Cayota A.

Gene. 2014 Apr 1;538(2):379-84. doi: 10.1016/j.gene.2014.01.023. Epub 2014 Jan 23.

PMID:
24463018
24.

Extracellular vesicles shed by Trypanosoma cruzi are linked to small RNA pathways, life cycle regulation, and susceptibility to infection of mammalian cells.

Garcia-Silva MR, das Neves RF, Cabrera-Cabrera F, Sanguinetti J, Medeiros LC, Robello C, Naya H, Fernandez-Calero T, Souto-Padron T, de Souza W, Cayota A.

Parasitol Res. 2014 Jan;113(1):285-304. doi: 10.1007/s00436-013-3655-1. Epub 2013 Nov 17.

PMID:
24241124
25.

Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome.

Delmiro A, Rivera H, García-Silva MT, García-Consuegra I, Martín-Hernández E, Quijada-Fraile P, de Las Heras RS, Moreno-Izquierdo A, Martín MÁ, Arenas J, Martínez-Azorín F.

Hum Mutat. 2013 Dec;34(12):1623-7. doi: 10.1002/humu.22445. Epub 2013 Oct 10.

PMID:
24105702
26.

A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome.

Rivera H, Martín-Hernández E, Delmiro A, García-Silva MT, Quijada-Fraile P, Muley R, Arenas J, Martín MA, Martínez-Azorín F.

BMC Nephrol. 2013 Sep 13;14:195. doi: 10.1186/1471-2369-14-195.

27.

Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.

Tort F, García-Silva MT, Ferrer-Cortès X, Navarro-Sastre A, Garcia-Villoria J, Coll MJ, Vidal E, Jiménez-Almazán J, Dopazo J, Briones P, Elpeleg O, Ribes A.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):73-7. doi: 10.1016/j.ymgme.2013.04.021. Epub 2013 May 3.

PMID:
23707711
28.

Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma Botryoides.

Martín-Hernández E, Quijada-Fraile P, Oliveros-Leal L, García-Silva M, Pérez-Cerdá C, Baro-Fernández M, Pérez-Alonso V, Vivanco J.

JIMD Rep. 2012;6:73-8. doi: 10.1007/8904_2012_137. Epub 2012 Mar 21.

29.

Distinct subcellular localization of tRNA-derived fragments in the infective metacyclic forms of Trypanosoma cruzi.

Reifur L, Garcia-Silva MR, Poubel SB, Alves LR, Arauco P, Buiar DK, Goldenberg S, Cayota A, Dallagiovanna B.

Mem Inst Oswaldo Cruz. 2012 Sep;107(6):816-9.

30.

Hints of tRNA-Derived Small RNAs Role in RNA Silencing Mechanisms.

Garcia-Silva MR, Cabrera-Cabrera F, Güida MC, Cayota A.

Genes (Basel). 2012 Oct 10;3(4):603-14. doi: 10.3390/genes3040603.

31.

Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.

Cañueto J, Girós M, Ciria S, Pi-Castán G, Artigas M, García-Dorado J, García-Patos V, Virós A, Vendrell T, Torrelo A, Hernández-Martín A, Martín-Hernández E, Garcia-Silva MT, Fernández-Burriel M, Rosell J, Tejedor M, Martínez F, Valero J, García JL, Sánchez-Tapia EM, Unamuno P, González-Sarmiento R.

Br J Dermatol. 2012 Apr;166(4):830-8. doi: 10.1111/j.1365-2133.2011.10756.x. Epub 2012 Mar 2. Review.

PMID:
22121851
32.

Clinical and cellular consequences of the mutation m.12300G>A in the mitochondrial tRNA(Leu(CUN)) gene.

Martín-Jiménez R, Martín-Hernández E, Cabello A, García-Silva MT, Arenas J, Campos Y.

Mitochondrion. 2012 Mar;12(2):288-93. doi: 10.1016/j.mito.2011.10.004. Epub 2011 Nov 7.

PMID:
22094595
33.

Acute striatal necrosis in hemiplegic migraine with de novo CACNA1A mutation.

Carreño O, García-Silva MT, García-Campos Ó, Martínez-de Aragón A, Cormand B, Macaya A.

Headache. 2011 Nov-Dec;51(10):1542-6. doi: 10.1111/j.1526-4610.2011.02014.x.

PMID:
22082423
34.

[Epidemiological study of the metabolic diseases with homocystinuria in Spain].

García-Jiménez MC, Baldellou A, García-Silva MT, Dalmau-Serra J, García-Cazorla A, Gómez-López L, Giner CP, Luengo OA, Peña Quintana L, Couce ML, Martínez-Pardo M, Lambruschini N.

An Pediatr (Barc). 2012 Mar;76(3):133-9. doi: 10.1016/j.anpedi.2011.08.008. Epub 2011 Nov 1. Spanish.

35.

Mitochondrial tRNA valine as a recurrent target for mutations involved in mitochondrial cardiomyopathies.

Arredondo JJ, Gallardo ME, García-Pavía P, Domingo V, Bretón B, García-Silva MT, Sedano MJ, Martín MA, Arenas J, Cervera M, Garesse R, Bornstein B.

Mitochondrion. 2012 Mar;12(2):357-62. doi: 10.1016/j.mito.2011.09.010. Epub 2011 Oct 1.

PMID:
21986556
36.

[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease].

Couce ML, Pérez-Cerdá C, García Silva MT, García Cazorla A, Martín-Hernández E, Castiñeiras D, Pineda M, Navarrete R, Campistol J, Fraga JM, Pérez B, Ugarte M.

Med Clin (Barc). 2011 Oct 22;137(11):500-3. doi: 10.1016/j.medcli.2011.01.018. Epub 2011 Jul 12. Spanish.

PMID:
21752405
37.

Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients.

Tondo M, Málaga I, O'Callaghan M, Serrano M, Emperador S, Ormazabal A, Ruiz-Pesini E, Montoya J, Garcia-Silva MT, Martin-Hernandez E, Garcia-Cazorla A, Pineda M, Artuch R.

Mitochondrion. 2011 Nov;11(6):867-70. doi: 10.1016/j.mito.2011.06.009. Epub 2011 Jul 2.

PMID:
21745599
38.

Cloning, characterization and subcellular localization of a Trypanosoma cruzi argonaute protein defining a new subfamily distinctive of trypanosomatids.

Garcia Silva MR, Tosar JP, Frugier M, Pantano S, Bonilla B, Esteban L, Serra E, Rovira C, Robello C, Cayota A.

Gene. 2010 Oct 15;466(1-2):26-35. doi: 10.1016/j.gene.2010.06.012. Epub 2010 Jul 16.

PMID:
20621168
39.

Functional splicing assay supporting that c.70 + 5G > A mutation in the MPV17 gene is disease causing.

Navarro-Sastre A, García-Silva MT, Martín-Hernández E, Lluch M, Briones P, Ribes A.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S293-6. doi: 10.1007/s10545-010-9155-x. Epub 2010 Jul 8.

PMID:
20614188
40.

Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features.

Serrano M, García-Silva MT, Martin-Hernandez E, O'Callaghan Mdel M, Quijada P, Martinez-Aragón A, Ormazábal A, Blázquez A, Martín MA, Briones P, López-Gallardo E, Ruiz-Pesini E, Montoya J, Artuch R, Pineda M.

Mitochondrion. 2010 Aug;10(5):429-32. doi: 10.1016/j.mito.2010.04.001. Epub 2010 Apr 11.

PMID:
20388557
41.

A population of tRNA-derived small RNAs is actively produced in Trypanosoma cruzi and recruited to specific cytoplasmic granules.

Garcia-Silva MR, Frugier M, Tosar JP, Correa-Dominguez A, Ronalte-Alves L, Parodi-Talice A, Rovira C, Robello C, Goldenberg S, Cayota A.

Mol Biochem Parasitol. 2010 Jun;171(2):64-73. doi: 10.1016/j.molbiopara.2010.02.003. Epub 2010 Feb 13.

PMID:
20156490
42.

PDH E1β deficiency with novel mutations in two patients with Leigh syndrome.

Quintana E, Mayr JA, García Silva MT, Font A, Tortoledo MA, Moliner S, Ozaez L, Lluch M, Cabello A, Ricoy JR, Koch J, Ribes A, Sperl W, Briones P.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S339-43. doi: 10.1007/s10545-009-1343-1. Epub 2009 Nov 9.

PMID:
19924563
43.

[Brain creatine defects: how can these uncommon diseases be diagnosed and their evolution changed].

García Silva MT.

Med Clin (Barc). 2009 Nov 21;133(19):752-3. doi: 10.1016/j.medcli.2009.09.007. Epub 2009 Nov 2. Spanish. No abstract available.

PMID:
19880147
44.

Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency.

Gil-Borlado MC, González-Hoyuela M, Blázquez A, García-Silva MT, Gabaldón T, Manzanares J, Vara J, Martín MA, Seneca S, Arenas J, Ugalde C.

Mitochondrion. 2009 Sep;9(5):299-305. doi: 10.1016/j.mito.2009.04.001. Epub 2009 Apr 21.

PMID:
19389488
45.

[Molybdenum cofactor deficiency as a cause of early epileptic encephalopathy].

Palacios Cuesta A, García Silva MT, Sánchez Del Pozo J, Nogales Espert A, Puche Mira A, Ugarte Pérez M.

An Pediatr (Barc). 2008 Aug;69(2):187-9. Spanish. No abstract available.

46.

Effective dosages for recording Veraviewepocs dental panoramic images: analog film, digital, and panoramic scout for CBCT.

Garcia Silva MA, Wolf U, Heinicke F, Gründler K, Visser H, Hirsch E.

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008 Oct;106(4):571-7. doi: 10.1016/j.tripleo.2008.03.031. Epub 2008 Jul 7.

PMID:
18602314
47.

Mitochondrial diseases associated with cerebral folate deficiency.

Garcia-Cazorla A, Quadros EV, Nascimento A, Garcia-Silva MT, Briones P, Montoya J, Ormazábal A, Artuch R, Sequeira JM, Blau N, Arenas J, Pineda M, Ramaekers VT.

Neurology. 2008 Apr 15;70(16):1360-2. doi: 10.1212/01.wnl.0000309223.98616.e4. No abstract available.

PMID:
18413591
48.

A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation.

Foulquier F, Ungar D, Reynders E, Zeevaert R, Mills P, García-Silva MT, Briones P, Winchester B, Morelle W, Krieger M, Annaert W, Matthijs G.

Hum Mol Genet. 2007 Apr 1;16(7):717-30. Epub 2007 Jan 12.

PMID:
17220172
49.

[Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier].

Ormazabal A, García Cazorla A, Pérez Dueñas B, Pineda M, Ruiz A, López Laso E, García Silva M, Carilho I, Barbot C, Cormand B, Ribases M, Moller L, Fernández Alvarez E, Campistol J, Artuch R.

Med Clin (Barc). 2006 Jun 17;127(3):81-5. Spanish.

PMID:
16827996
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