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Best matches for Fernández-Torrón R[au]:

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain. Sivera R et al. Sci Rep. (2017)

ALS: A bucket of genes, environment, metabolism and unknown ingredients. Zufiría M et al. Prog Neurobiol. (2016)

Limb girdle muscular dystrophy due to mutations in <i>POMT2</i>. Østergaard ST et al. J Neurol Neurosurg Psychiatry. (2018)

Search results

Items: 38

1.

Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT.

Fernández-Simón E, Carrasco-Rozas A, Gallardo E, González-Quereda L, Alonso-Pérez J, Belmonte I, Pedrosa-Hernández I, Montiel E, Segovia S, Suárez-Calvet X, Llauger J, Mayos M, Illa I, Barba-Romero MA, Barcena J, Paradas C, Carzorla MR, Creus C, Coll-Cantí J, Díaz M, Domínguez C, Fernández-Torrón R, García-Antelo MJ, Grau JM, López de Munáin A, Martínez-García FA, Morgado Y, Moreno A, Morís G, Muñoz-Blanco MA, Nascimento A, Parajuá-Pozo JL, Querol L, Rojas R, Robledo-Strauss A, Rojas-Marcos Í, Salazar JA, Usón M, Díaz-Manera J.

Mol Genet Metab. 2019 Jul 23. pii: S1096-7192(18)30784-4. doi: 10.1016/j.ymgme.2019.07.013. [Epub ahead of print]

PMID:
31378569
2.

Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease.

Alonso-Pérez J, Segovia S, Domínguez-González C, Olivé M, Mendoza Grimón MD, Fernández-Torrón R, López de Munain A, Muñoz-Blanco JL, Ramos-Fransi A, Almendrote M, Illa I, Díaz-Manera J.

Med Clin (Barc). 2019 Jun 25. pii: S0025-7753(19)30346-X. doi: 10.1016/j.medcli.2019.03.036. [Epub ahead of print] English, Spanish.

PMID:
31253477
3.

Late-onset thymidine kinase 2 deficiency: a review of 18 cases.

Domínguez-González C, Hernández-Laín A, Rivas E, Hernández-Voth A, Sayas Catalán J, Fernández-Torrón R, Fuiza-Luces C, García García J, Morís G, Olivé M, Miralles F, Díaz-Manera J, Caballero C, Méndez-Ferrer B, Martí R, García Arumi E, Badosa MC, Esteban J, Jimenez-Mallebrera C, Encinar AB, Arenas J, Hirano M, Martin MÁ, Paradas C.

Orphanet J Rare Dis. 2019 May 6;14(1):100. doi: 10.1186/s13023-019-1071-z.

4.

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.

Gutiérrez Gutiérrez G, Díaz-Manera J, Almendrote M, Azriel S, Eulalio Bárcena J, Cabezudo García P, Camacho Salas A, Casanova Rodríguez C, Cobo AM, Díaz Guardiola P, Fernández-Torrón R, Gallano Petit MP, García Pavía P, Gómez Gallego M, Gutiérrez Martínez AJ, Jericó I, Kapetanovic García S, López de Munaín Arregui A, Martorell L, Morís de la Tassa G, Moreno Zabaleta R, Muñoz-Blanco JL, Olivar Roldán J, Pascual Pascual SI, Peinado Peinado R, Pérez H, Poza Aldea JJ, Rabasa M, Ramos A, Rosado Bartolomé A, Rubio Pérez MÁ, Urtizberea JA, Zapata-Wainberg G, Gutiérrez-Rivas E.

Neurologia. 2019 Apr 16. pii: S0213-4853(19)30019-2. doi: 10.1016/j.nrl.2019.01.001. [Epub ahead of print] English, Spanish.

5.

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.

Gutiérrez Gutiérrez G, Díaz-Manera J, Almendrote M, Azriel S, Eulalio Bárcena J, Cabezudo García P, Camacho Salas A, Casanova Rodríguez C, Cobo AM, Díaz Guardiola P, Fernández-Torrón R, Gallano Petit MP, García Pavía P, Gómez Gallego M, Gutiérrez Martínez AJ, Jericó I, Kapetanovic García S, López de Munaín Arregui A, Martorell L, Morís de la Tassa G, Moreno Zabaleta R, Muñoz-Blanco JL, Olivar Roldán J, Pascual Pascual SI, Peinado Peinado R, Pérez H, Poza Aldea JJ, Rabasa M, Ramos A, Rosado Bartolomé A, Rubio Pérez MÁ, Urtizberea JA, Zapata-Wainberg G, Gutiérrez-Rivas E.

Med Clin (Barc). 2019 Jul 19;153(2):82.e1-82.e17. doi: 10.1016/j.medcli.2018.10.028. Epub 2019 Jan 24. English, Spanish.

PMID:
30685181
6.

Assessment of disease progression in dysferlinopathy: A 1-year cohort study.

Moore U, Jacobs M, James MK, Mayhew AG, Fernandez-Torron R, Feng J, Cnaan A, Eagle M, Bettinson K, Rufibach LE, Lofra RM, Blamire AM, Carlier PG, Mittal P, Lowes LP, Alfano L, Rose K, Duong T, Berry KM, Montiel-Morillo E, Pedrosa-Hernández I, Holsten S, Sanjak M, Ashida A, Sakamoto C, Tateishi T, Yajima H, Canal A, Ollivier G, Decostre V, Mendez JB, Sánchez-Aguilera Praxedes N, Thiele S, Siener C, Shierbecker J, Florence JM, Vandevelde B, DeWolf B, Hutchence M, Gee R, Prügel J, Maron E, Hilsden H, Lochmüller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Díaz-Manera J, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V; Jain COS Consortium.

Neurology. 2019 Jan 9. pii: 10.1212/WNL.0000000000006858. doi: 10.1212/WNL.0000000000006858. [Epub ahead of print]

7.

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.

Alonso-Jimenez A, Kroon RHMJM, Alejaldre-Monforte A, Nuñez-Peralta C, Horlings CGC, van Engelen BGM, Olivé M, González L, Verges-Gil E, Paradas C, Márquez C, Garibaldi M, Gallano P, Rodriguez MJ, Gonzalez-Quereda L, Dominguez Gonzalez C, Vissing J, Fornander F, Eisum AV, García-Sobrino T, Pardo J, García-Figueiras R, Muelas N, Vilchez JJ, Kapetanovic S, Tasca G, Monforte M, Ricci E, Gomez MT, Bevilacqua JA, Diaz-Jara J, Zamorano II, Carlier RY, Laforet P, Pelayo-Negro A, Ramos-Fransi A, Martínez A, Marini-Bettolo C, Straub V, Gutiérrez G, Stojkovic T, Martín MA, Morís G, Fernández-Torrón R, Lopez De Munaín A, Cortes-Vicente E, Querol L, Rojas-García R, Illa I, Diaz-Manera J.

J Neurol Neurosurg Psychiatry. 2019 May;90(5):576-585. doi: 10.1136/jnnp-2018-319578. Epub 2018 Dec 8.

PMID:
30530568
8.

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.

Johnson K, Bertoli M, Phillips L, Töpf A, Van den Bergh P, Vissing J, Witting N, Nafissi S, Jamal-Omidi S, Łusakowska A, Kostera-Pruszczyk A, Potulska-Chromik A, Deconinck N, Wallgren-Pettersson C, Strang-Karlsson S, Colomer J, Claeys KG, De Ridder W, Baets J, von der Hagen M, Fernández-Torrón R, Zulaica Ijurco M, Espinal Valencia JB, Hahn A, Durmus H, Willis T, Xu L, Valkanas E, Mullen TE, Lek M, MacArthur DG, Straub V.

Skelet Muscle. 2018 Jul 30;8(1):23. doi: 10.1186/s13395-018-0170-1.

9.

Cancer phenotype in myotonic dystrophy patients: Results from a meta-analysis.

Emparanza JI, López de Munain A, Greene MH, Matheu A, Fernández-Torrón R, Gadalla SM.

Muscle Nerve. 2018 Oct;58(4):517-522. doi: 10.1002/mus.26194.

PMID:
30028904
10.

Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials.

Diaz-Manera J, Fernandez-Torron R, LLauger J, James MK, Mayhew A, Smith FE, Moore UR, Blamire AM, Carlier PG, Rufibach L, Mittal P, Eagle M, Jacobs M, Hodgson T, Wallace D, Ward L, Smith M, Stramare R, Rampado A, Sato N, Tamaru T, Harwick B, Rico Gala S, Turk S, Coppenrath EM, Foster G, Bendahan D, Le Fur Y, Fricke ST, Otero H, Foster SL, Peduto A, Sawyer AM, Hilsden H, Lochmuller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V; Jain COS Consortium.

J Neurol Neurosurg Psychiatry. 2018 Oct;89(10):1071-1081. doi: 10.1136/jnnp-2017-317488. Epub 2018 May 7.

11.

Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study.

Moore UR, Jacobs M, Fernandez-Torron R, Jang J, James MK, Mayhew A, Rufibach L, Mittal P, Eagle M, Cnaan A, Carlier PG, Blamire A, Hilsden H, Lochmüller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Diaz-Manera J, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V.

J Neurol Neurosurg Psychiatry. 2018 Nov;89(11):1224-1226. doi: 10.1136/jnnp-2017-317329. Epub 2018 Jan 29. No abstract available.

12.

Limb girdle muscular dystrophy due to mutations in POMT2.

Østergaard ST, Johnson K, Stojkovic T, Krag T, De Ridder W, De Jonghe P, Baets J, Claeys KG, Fernández-Torrón R, Phillips L, Topf A, Colomer J, Nafissi S, Jamal-Omidi S, Bouchet-Seraphin C, Leturcq F, MacArthur DG, Lek M, Xu L, Nelson I, Straub V, Vissing J.

J Neurol Neurosurg Psychiatry. 2018 May;89(5):506-512. doi: 10.1136/jnnp-2017-317018. Epub 2017 Nov 24.

PMID:
29175898
13.

Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy.

Morís G, Wood L, FernáNdez-Torrón R, González Coraspe JA, Turner C, Hilton-Jones D, Norwood F, Willis T, Parton M, Rogers M, Hammans S, Roberts M, Househam E, Williams M, Lochmüller H, Evangelista T.

Muscle Nerve. 2018 Mar;57(3):380-387. doi: 10.1002/mus.25991. Epub 2017 Nov 7.

14.

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.

15.

Cancer risk in DM1 is sex-related and linked to miRNA-200/141 downregulation.

Fernández-Torrón R, García-Puga M, Emparanza JI, Maneiro M, Cobo AM, Poza JJ, Espinal JB, Zulaica M, Ruiz I, Martorell L, Otaegui D, Matheu A, López de Munain A.

Neurology. 2016 Sep 20;87(12):1250-7. doi: 10.1212/WNL.0000000000003124. Epub 2016 Aug 24.

PMID:
27558368
16.

ALS: A bucket of genes, environment, metabolism and unknown ingredients.

Zufiría M, Gil-Bea FJ, Fernández-Torrón R, Poza JJ, Muñoz-Blanco JL, Rojas-García R, Riancho J, López de Munain A.

Prog Neurobiol. 2016 Jul;142:104-129. doi: 10.1016/j.pneurobio.2016.05.004. Epub 2016 May 26. Review.

PMID:
27236050
17.

Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry.

Evangelista T, Wood L, Fernandez-Torron R, Williams M, Smith D, Lunt P, Hudson J, Norwood F, Orrell R, Willis T, Hilton-Jones D, Rafferty K, Guglieri M, Lochmüller H.

J Neurol. 2016 Jul;263(7):1401-8. doi: 10.1007/s00415-016-8132-1. Epub 2016 May 9.

18.

Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.

Toral-Ojeda I, Aldanondo G, Lasa-Elgarresta J, Lasa-Fernández H, Fernández-Torrón R, López de Munain A, Vallejo-Illarramendi A.

Expert Rev Mol Med. 2016 Apr 8;18:e7. doi: 10.1017/erm.2016.9.

19.

Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes.

Díaz-Manera J, Alejaldre A, González L, Olivé M, Gómez-Andrés D, Muelas N, Vílchez JJ, Llauger J, Carbonell P, Márquez-Infante C, Fernández-Torrón R, Poza JJ, López de Munáin A, González-Quereda L, Mirabet S, Clarimon J, Gallano P, Rojas-García R, Gallardo E, Illa I.

Neuromuscul Disord. 2016 Jan;26(1):33-40. doi: 10.1016/j.nmd.2015.10.001. Epub 2015 Oct 22.

PMID:
26573435
20.

Muscle wasting in myotonic dystrophies: a model of premature aging.

Mateos-Aierdi AJ, Goicoechea M, Aiastui A, Fernández-Torrón R, Garcia-Puga M, Matheu A, López de Munain A.

Front Aging Neurosci. 2015 Jul 9;7:125. doi: 10.3389/fnagi.2015.00125. eCollection 2015. Review.

21.

Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain.

Dols-Icardo O, Nebot I, Gorostidi A, Ortega-Cubero S, Hernández I, Rojas-García R, García-Redondo A, Povedano M, Lladó A, Álvarez V, Sánchez-Juan P, Pardo J, Jericó I, Vázquez-Costa J, Sevilla T, Cardona F, Indakoechea B, Moreno F, Fernández-Torrón R, Muñoz-Llahuna L, Moreno-Grau S, Rosende-Roca M, Vela Á, Muñoz-Blanco JL, Combarros O, Coto E, Alcolea D, Fortea J, Lleó A, Sánchez-Valle R, Esteban-Pérez J, Ruiz A, Pastor P, López De Munain A, Pérez-Tur J, Clarimón J; Dementia Genetics Spanish Consortium (DEGESCO).

Brain. 2015 Dec;138(Pt 12):e400. doi: 10.1093/brain/awv175. Epub 2015 Jul 7. No abstract available.

22.

Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort.

Gutiérrez-Rivas E, Bautista J, Vílchez JJ, Muelas N, Díaz-Manera J, Illa I, Martínez-Arroyo A, Olivé M, Sanz I, Arpa J, Fernández-Torrón R, López de Munáin A, Jiménez L, Solera J, Lukacs Z.

Neuromuscul Disord. 2015 Jul;25(7):548-53. doi: 10.1016/j.nmd.2015.04.008. Epub 2015 Apr 23.

PMID:
25998610
23.

Rapidly Reversible Winging Scapula.

Fernández-Torrón R, López de Munain A, Camaño P, García-Bragado F.

Arthritis Rheumatol. 2015 Sep;67(9):2502. doi: 10.1002/art.39202. No abstract available.

24.

Dried Blood Spot for Screening for Late-Onset Pompe Disease: A Spanish Cohort.

Gutiérrez-Rivas E, Bautista J, Vílchez JJ, Muelas N, Díaz-Manera J, Illa I, Martínez-Arroyo A, Olivé M, Sanz I, Arpa J, Fernández-Torrón R, López de Munáin A, Jiménez L, Solera J, Lukacs Z.

J Neuromuscul Dis. 2015;2(s1):S42. No abstract available.

PMID:
27858636
25.

[Functional neuroimaging in the diagnosis of patients with Parkinsonism: Update and recommendations for clinical use].

Arbizu J, Luquin MR, Abella J, de la Fuente-Fernández R, Fernandez-Torrón R, García-Solís D, Garrastachu P, Jiménez-Hoyuela JM, Llaneza M, Lomeña F, Lorenzo-Bosquet C, Martí MJ, Martinez-Castrillo JC, Mir P, Mitjavila M, Ruiz-Martínez J, Vela L.

Rev Esp Med Nucl Imagen Mol. 2014 Jul-Aug;33(4):215-26. doi: 10.1016/j.remn.2014.02.001. Epub 2014 Apr 14. Review. Spanish.

PMID:
24731551
26.

Pearls and oy-sters: ocular ischemic syndrome.

Venketasubramanian N, Kusuma Y, Palma JA, Fernandez-Torron R, Pagola I.

Neurology. 2012 Dec 11;79(24):2367; author reply 2367. doi: 10.1212/WNL.0b013e31827c2739. No abstract available.

PMID:
23233685
27.

Pearls & oy-sters: ocular ischemic syndrome.

Fernandez-Torron R, Palma JA, Pagola I.

Neurology. 2012 Sep 11;79(11):e92-4. doi: 10.1212/WNL.0b013e3182698d14. No abstract available. Erratum in: Neurology. 2012 Dec 11;79(24):2368. Neurology. 2012 Oct 23;79(17):1836.

PMID:
22965677
28.

Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide.

García-Redondo A, Dols-Icardo O, Rojas-García R, Esteban-Pérez J, Cordero-Vázquez P, Muñoz-Blanco JL, Catalina I, González-Muñoz M, Varona L, Sarasola E, Povedano M, Sevilla T, Guerrero A, Pardo J, López de Munain A, Márquez-Infante C, de Rivera FJ, Pastor P, Jericó I, de Arcaya AÁ, Mora JS, Clarimón J; C9ORF72 Spanish Study Group, Gonzalo-Martínez JF, Juárez-Rufián A, Atencia G, Jiménez-Bautista R, Morán Y, Mascías J, Hernández-Barral M, Kapetanovic S, García-Barcina M, Alcalá C, Vela A, Ramírez-Ramos C, Galán L, Pérez-Tur J, Quintáns B, Sobrido MJ, Fernández-Torrón R, Poza JJ, Gorostidi A, Paradas C, Villoslada P, Larrodé P, Capablo JL, Pascual-Calvet J, Goñi M, Morgado Y, Guitart M, Moreno-Laguna S, Rueda A, Martín-Estefanía C, Cemillán C, Blesa R, Lleó A.

Hum Mutat. 2013 Jan;34(1):79-82. doi: 10.1002/humu.22211. Epub 2012 Oct 11.

PMID:
22936364
29.

[Prolonged hemiplegia as the only symptom of a simple focal nonconvulsive status epilepticus].

Fernández-Torrón R, Esteve-Belloch P, Palma JA, Riverol M, Iriarte J.

Rev Neurol. 2012 Aug 16;55(4):253-4. Spanish. No abstract available.

30.

[Clinical experience of treatment with onabotulinumtoxin A in patients with refractory migraine].

Palma JA, Irimia P, Fernandez-Torron R, Ortega-Cubero S, Riverol M, Luquin MR, Martinez-Vila E.

Rev Neurol. 2012 Jun 16;54(12):705-11. Spanish.

31.

Leptomeningeal carcinomatosis: prognostic value of clinical, cerebrospinal fluid, and neuroimaging features.

Palma JA, Fernandez-Torron R, Esteve-Belloch P, Fontes-Villalba A, Hernandez A, Fernandez-Hidalgo O, Gallego Perez-Larraya J, Martinez-Vila E.

Clin Neurol Neurosurg. 2013 Jan;115(1):19-25. doi: 10.1016/j.clineuro.2012.03.048. Epub 2012 Apr 23.

PMID:
22534095
32.

Brown-sequard syndrome after endovascular embolization of vertebral hemangioma.

Fernandez-Torron R, Palma JA, Riverol M, Irimia P, Martinez-Vila E.

Spinal Cord. 2012 Aug;50(8):636-7. doi: 10.1038/sc.2012.3. Epub 2012 Feb 7.

PMID:
22310318
33.

Refractory migraine in a headache clinic population.

Irimia P, Palma JA, Fernandez-Torron R, Martinez-Vila E.

BMC Neurol. 2011 Aug 1;11:94. doi: 10.1186/1471-2377-11-94.

34.

Isolated dysphagia due to paraneoplastic myasthenic syndrome with anti-P/Q-type voltage-gated calcium-channel and anti-acetylcholine receptor antibodies.

Fernandez-Torron R, Arcocha J, López-Picazo JM, Pardo J, Tamura MA, Carretero C, Pastor P.

Neuromuscul Disord. 2011 Feb;21(2):126-8. doi: 10.1016/j.nmd.2010.10.003. Epub 2010 Nov 5.

PMID:
21115345
35.

[Chronic migraine and abuse of analgesics].

Irimia P, Palma JA, Fernández-Torrón R, Martínez-Vila E.

Rev Neurol. 2010 Dec 1;51(11):703-4; author reply 704. Spanish. No abstract available.

36.

Neurologic complications of intrathecal liposomal cytarabine administered prophylactically to patients with non-Hodgkin lymphoma.

Gállego Pérez-Larraya J, Palma JA, Carmona-Iragui M, Fernández-Torrón R, Irimia P, Rodríguez-Otero P, Panizo C, Martínez-Vila E.

J Neurooncol. 2011 Jul;103(3):603-9. doi: 10.1007/s11060-010-0428-x. Epub 2010 Oct 17.

PMID:
20953897
37.

Extrapyramidal syndrome related to lithium-carbamazepine combination therapy at therapeutic serum levels.

Palma JA, Fernandez-Torron R, Gallego Perez-Larraya J.

Clin Neuropharmacol. 2010 Mar-Apr;33(2):102-3. doi: 10.1097/WNF.0b013e3181cbf83f.

PMID:
20375657
38.

Activation of the brainstem but not of the hypothalamus in hemicrania continua without autonomic symptoms.

Irimia P, Arbizu J, Prieto E, Fernández-Torrón R, Martínez-Vila E.

Cephalalgia. 2009 Sep;29(9):974-9. doi: 10.1111/j.1468-2982.2008.01832.x. Epub 2009 Mar 5.

PMID:
19281472

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