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Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.

De la Casa-Fages B, Fernández-Eulate G, Gamez J, Barahona-Hernando R, Morís G, García-Barcina M, Infante J, Zulaica M, Fernández-Pelayo U, Muñoz-Oreja M, Urtasun M, Olaskoaga A, Zelaya V, Jericó I, Saez-Villaverde R, Catalina I, Sola E, Martínez-Sáez E, Pujol A, Ruiz M, Schlüter A, Spinazzola A, Muñoz-Blanco JL, Grandas F, Holt I, Álvarez V, López de Munaín A.

Mov Disord. 2019 Aug 21. doi: 10.1002/mds.27812. [Epub ahead of print]


Intravenous immunoglobulin to prevent myasthenic crisis after thymectomy and other procedures can be omitted in patients with well-controlled myasthenia gravis.

Gamez J, Salvadó M, Carmona F, de Nadal M, Romero L, Ruiz D, Jáuregui A, Martínez O, Pérez J, Suñé P, Deu M.

Ther Adv Neurol Disord. 2019 Jul 17;12:1756286419864497. doi: 10.1177/1756286419864497. eCollection 2019.


Correction to: Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data.

Restrepo-Cordoba MA, Campuzano O, Ripoll-Vera T, Cobo-Marcos M, Mademont-Soler I, Gámez JM, Dominguez F, Gonzalez-Lopez E, Padron-Barthe L, Lara-Pezzi E, Alonso-Pulpon L, Brugada R, Garcia-Pavia P.

J Cardiovasc Transl Res. 2019 Jul 15. doi: 10.1007/s12265-019-09901-5. [Epub ahead of print]


Masitinib as an add-on therapy to riluzole in patients with amyotrophic lateral sclerosis: a randomized clinical trial.

Mora JS, Genge A, Chio A, Estol CJ, Chaverri D, Hernández M, Marín S, Mascias J, Rodriguez GE, Povedano M, Paipa A, Dominguez R, Gamez J, Salvado M, Lunetta C, Ballario C, Riva N, Mandrioli J, Moussy A, Kinet JP, Auclair C, Dubreuil P, Arnold V, Mansfield CD, Hermine O; AB10015 STUDY GROUP.

Amyotroph Lateral Scler Frontotemporal Degener. 2019 Jul 7:1-10. doi: 10.1080/21678421.2019.1632346. [Epub ahead of print]


The effect of SANGUINATE® (PEGylated carboxyhemoglobin bovine) on cardiopulmonary bypass functionality using a bovine whole blood model of normovolemic hemodilution.

Romito BT, McBroom MM, Bryant D, Gamez J, Merchant A, Hill SE.

Perfusion. 2019 May 30:267659119850681. doi: 10.1177/0267659119850681. [Epub ahead of print]


Transthyretin stabilization activity of the catechol-O-methyltransferase inhibitor tolcapone (SOM0226) in hereditary ATTR amyloidosis patients and asymptomatic carriers: proof-of-concept study.

Gamez J, Salvadó M, Reig N, Suñé P, Casasnovas C, Rojas-Garcia R, Insa R.

Amyloid. 2019 Jun;26(2):74-84. doi: 10.1080/13506129.2019.1597702. Epub 2019 May 23.


The amplitude in periodic neural state trajectories underlies the tempo of rhythmic tapping.

Gámez J, Mendoza G, Prado L, Betancourt A, Merchant H.

PLoS Biol. 2019 Apr 8;17(4):e3000054. doi: 10.1371/journal.pbio.3000054. eCollection 2019 Apr.


Low Range of Shoulders Horizontal Abduction Predisposes for Shoulder Pain in Competitive Young Swimmers.

Cejudo A, Sánchez-Castillo S, Sainz de Baranda P, Gámez JC, Santonja-Medina F.

Front Psychol. 2019 Mar 6;10:478. doi: 10.3389/fpsyg.2019.00478. eCollection 2019.


Does ALS-FUS without FUS mutation represent ALS-FET? Report of three cases.

Borrego-Écija S, Cortés-Vicente E, Cervera-Carles L, Clarimón J, Gámez J, Batlle J, Ricken G, Molina-Porcel L, Aldecoa I, Sánchez-Valle R, Rojas-García R, Gelpi E.

Neuropathol Appl Neurobiol. 2019 Jun;45(4):421-426. doi: 10.1111/nan.12527. Epub 2018 Nov 20. No abstract available.


Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum.

Vicente-Pascual M, Rossi M, Gámez J, Lladó A, Valls J, Grau-Rivera O, Ávila Polo R, Llorens F, Zerr I, Ferrer I, Nos C, Parchi P, Sánchez-Valle R, Gelpí E.

Ann Clin Transl Neurol. 2018 Sep 21;5(10):1297-1302. doi: 10.1002/acn3.632. eCollection 2018 Oct.


Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis.

Benson MD, Waddington-Cruz M, Berk JL, Polydefkis M, Dyck PJ, Wang AK, Planté-Bordeneuve V, Barroso FA, Merlini G, Obici L, Scheinberg M, Brannagan TH 3rd, Litchy WJ, Whelan C, Drachman BM, Adams D, Heitner SB, Conceição I, Schmidt HH, Vita G, Campistol JM, Gamez J, Gorevic PD, Gane E, Shah AM, Solomon SD, Monia BP, Hughes SG, Kwoh TJ, McEvoy BW, Jung SW, Baker BF, Ackermann EJ, Gertz MA, Coelho T.

N Engl J Med. 2018 Jul 5;379(1):22-31. doi: 10.1056/NEJMoa1716793.


Use of Flutemetamol F 18-Labeled Positron Emission Tomography and Other Biomarkers to Assess Risk of Clinical Progression in Patients With Amnestic Mild Cognitive Impairment.

Wolk DA, Sadowsky C, Safirstein B, Rinne JO, Duara R, Perry R, Agronin M, Gamez J, Shi J, Ivanoiu A, Minthon L, Walker Z, Hasselbalch S, Holmes C, Sabbagh M, Albert M, Fleisher A, Loughlin P, Triau E, Frey K, Høgh P, Bozoki A, Bullock R, Salmon E, Farrar G, Buckley CJ, Zanette M, Sherwin PF, Cherubini A, Inglis F.

JAMA Neurol. 2018 Sep 1;75(9):1114-1123. doi: 10.1001/jamaneurol.2018.0894.


Predictive rhythmic tapping to isochronous and tempo changing metronomes in the nonhuman primate.

Gámez J, Yc K, Ayala YA, Dotov D, Prado L, Merchant H.

Ann N Y Acad Sci. 2018 Apr 30. doi: 10.1111/nyas.13671. [Epub ahead of print]


KATP Channel Expression and Genetic Polymorphisms Associated with Progression and Survival in Amyotrophic Lateral Sclerosis.

Vidal-Taboada JM, Pugliese M, Salvadó M, Gámez J, Mahy N, Rodríguez MJ.

Mol Neurobiol. 2018 Oct;55(10):7962-7972. doi: 10.1007/s12035-018-0970-7. Epub 2018 Feb 28.


Intravenous immunoglobulin as monotherapy for myasthenia gravis during pregnancy.

Gamez J, Salvado M, Casellas M, Manrique S, Castillo F.

J Neurol Sci. 2017 Dec 15;383:118-122. doi: 10.1016/j.jns.2017.10.037. Epub 2017 Nov 6.


Performance of [18F]flutemetamol amyloid imaging against the neuritic plaque component of CERAD and the current (2012) NIA-AA recommendations for the neuropathologic diagnosis of Alzheimer's disease.

Salloway S, Gamez JE, Singh U, Sadowsky CH, Villena T, Sabbagh MN, Beach TG, Duara R, Fleisher AS, Frey KA, Walker Z, Hunjan A, Escovar YM, Agronin ME, Ross J, Bozoki A, Akinola M, Shi J, Vandenberghe R, Ikonomovic MD, Sherwin PF, Farrar G, Smith APL, Buckley CJ, Thal DR, Zanette M, Curtis C.

Alzheimers Dement (Amst). 2017 Jul 1;9:25-34. doi: 10.1016/j.dadm.2017.06.001. eCollection 2017.


On the applicability of density functional theory to manganese-based complexes with catalytic activity toward water oxidation.

Gámez JA, Hölscher M, Leitner W.

J Comput Chem. 2017 Jul 15;38(20):1747-1751. doi: 10.1002/jcc.24819. Epub 2017 May 29.


Influence of early neurological complications on clinical outcome following lung transplant.

Gamez J, Salvado M, Martinez-de La Ossa A, Deu M, Romero L, Roman A, Sacanell J, Laborda C, Rochera I, Nadal M, Carmona F, Santamarina E, Raguer N, Canela M, Solé J.

PLoS One. 2017 Mar 16;12(3):e0174092. doi: 10.1371/journal.pone.0174092. eCollection 2017.


Brain atrophy in picornavirus-infected FVB mice is dependent on the H-2Db class I molecule.

Huseby Kelcher AM, Atanga PA, Gamez JD, Cumba Garcia LM, Teclaw SJ, Pavelko KD, Macura SI, Johnson AJ.

FASEB J. 2017 Jun;31(6):2267-2275. doi: 10.1096/fj.201601055R. Epub 2017 Feb 10.


Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data.

Alejandra Restrepo-Cordoba M, Campuzano O, Ripoll-Vera T, Cobo-Marcos M, Mademont-Soler I, Gámez JM, Dominguez F, Gonzalez-Lopez E, Padron-Barthe L, Lara-Pezzi E, Alonso-Pulpon L, Brugada R, Garcia-Pavia P.

J Cardiovasc Transl Res. 2017 Feb;10(1):35-46. doi: 10.1007/s12265-017-9730-8. Epub 2017 Jan 30. Review. Erratum in: J Cardiovasc Transl Res. 2019 Jul 15;:.


Diabetes mellitus and cardiovascular clinical characteristics of Spanish women with stable ischaemic heart disease: Data from the SIRENA study.

Gámez JM, Masmiquel L, Ripoll T, Barrios V, Anguita M; SIRENA study.

Diabetes Res Clin Pract. 2017 Jan;123:82-86. doi: 10.1016/j.diabres.2016.11.019. Epub 2016 Dec 5.


SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement.

Manole A, Horga A, Gamez J, Raguer N, Salvado M, San Millán B, Navarro C, Pittmann A, Reilly MM, Houlden H.

Neurogenetics. 2017 Jan;18(1):63-67. doi: 10.1007/s10048-016-0505-1. Epub 2016 Dec 22.


Peginterferon Beta-1a Shows Antitumor Activity as a Single Agent and Enhances Efficacy of Standard of Care Cancer Therapeutics in Human Melanoma, Breast, Renal, and Colon Xenograft Models.

Boccia A, Virata C, Lindner D, English N, Pathan N, Brickelmaier M, Hu X, Gardner JL, Peng L, Wang X, Zhang X, Yang L, Perron K, Yco G, Kelly R, Gamez J, Scripps T, Bennett D, Joseph IB, Baker DP.

J Interferon Cytokine Res. 2017 Jan;37(1):20-31. doi: 10.1089/jir.2016.0027. Epub 2016 Nov 11.


Identification and characterization of the novel point mutation m.3634A>G in the mitochondrial MT-ND1 gene associated with LHON syndrome.

Carreño-Gago L, Gamez J, Cámara Y, Alvarez de la Campa E, Aller-Alvarez JS, Moncho D, Salvado M, Galan A, de la Cruz X, Pinós T, García-Arumí E.

Biochim Biophys Acta Mol Basis Dis. 2017 Jan;1863(1):182-187. doi: 10.1016/j.bbadis.2016.09.002. Epub 2016 Sep 7.


A coordinated transition model for patients with cystinosis: from pediatrics to adult care.

Ariceta G, Camacho JA, Fernández-Obispo M, Fernández-Polo A, Gámez J, García-Villoria J, Lara E, Leyes P, Martín-Begué N, Perelló M, Pintos-Morell G, Torra R, Torregrosa JV, Torres-Sierra S, Vila-Santandreu A, Güell A; Grupo

Nefrologia. 2016 Nov - Dec;36(6):616-630. doi: 10.1016/j.nefro.2016.05.012. Epub 2016 Aug 30. English, Spanish.


Neuropilin-1 modulates interferon-γ-stimulated signaling in brain microvascular endothelial cells.

Wang Y, Cao Y, Mangalam AK, Guo Y, LaFrance-Corey RG, Gamez JD, Atanga PA, Clarkson BD, Zhang Y, Wang E, Angom RS, Dutta K, Ji B, Pirko I, Lucchinetti CF, Howe CL, Mukhopadhyay D.

J Cell Sci. 2016 Oct 15;129(20):3911-3921. Epub 2016 Sep 2.


Lipid Accumulation Product (LAP) and Visceral Adiposity Index (VAI) as Markers of Insulin Resistance and Metabolic Associated Disturbances in Young Argentine Women with Polycystic Ovary Syndrome.

Abruzzese GA, Cerrrone GE, Gamez JM, Graffigna MN, Belli S, Lioy G, Mormandi E, Otero P, Levalle OA, Motta AB.

Horm Metab Res. 2017 Jan;49(1):23-29. doi: 10.1055/s-0042-113463. Epub 2016 Aug 29.


Erratum: "Assessment of approximate computational methods for conical intersections and branching plane vectors in organic molecules" [J. Chem. Phys. 141, 124122 (2014)].

Nikiforov A, Gamez JA, Thiel W, Huix-Rotllant M, Filatov M.

J Chem Phys. 2016 Jul 28;145(4):049903. doi: 10.1063/1.4960048. No abstract available.


Recording extracellular neural activity in the behaving monkey using a semichronic and high-density electrode system.

Mendoza G, Peyrache A, Gámez J, Prado L, Buzsáki G, Merchant H.

J Neurophysiol. 2016 Aug 1;116(2):563-74. doi: 10.1152/jn.00116.2016. Epub 2016 May 11.


Study of the prevalence of familial autoimmune myasthenia gravis in a Spanish cohort.

Salvado M, Canela M, Ponseti JM, Lorenzo L, Garcia C, Cazorla S, Gili G, Raguer N, Gamez J.

J Neurol Sci. 2016 Jan 15;360:110-4. doi: 10.1016/j.jns.2015.11.049. Epub 2015 Nov 27.


Computational Design of a Family of Light-Driven Rotary Molecular Motors with Improved Quantum Efficiency.

Nikiforov A, Gamez JA, Thiel W, Filatov M.

J Phys Chem Lett. 2016 Jan 7;7(1):105-10. doi: 10.1021/acs.jpclett.5b02575. Epub 2015 Dec 18.


The clinical profile of women with stable ischaemic heart disease in Spain. More effort is needed in secondary prevention. SIRENA study.

Gámez JM, Ripoll T, Barrios V, Anguita M, Pedreira M, Madariaga I; en representación de los investigadores del estudio SIRENA.

Rev Clin Esp. 2016 Jan-Feb;216(1):1-7. doi: 10.1016/j.rce.2015.09.012. Epub 2015 Nov 6. English, Spanish.


Cystinosis in adult and adolescent patients: Recommendations for the comprehensive care of cystinosis.

Ariceta G, Camacho JA, Fernández-Obispo M, Fernández-Polo A, Gamez J, García-Villoria J, Lara Monteczuma E, Leyes P, Martín-Begué N, Oppenheimer F, Perelló M, Morell GP, Torra R, Santandreu AV, Güell A; Grupo

Nefrologia. 2015;35(3):304-21. English, Spanish.


Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene.

Ripoll-Vera T, Gámez JM, Govea N, Gómez Y, Núñez J, Socías L, Escandell Á, Rosell J.

Rev Esp Cardiol (Engl Ed). 2016 Feb;69(2):149-58. doi: 10.1016/j.rec.2015.06.025. Epub 2015 Oct 24.


Phenotypic Patterns of Cardiomyopathy Caused by Mutations in the Desmin Gene. A Clinical and Genetic Study in Two Inherited Heart Disease Units.

Ripoll-Vera T, Zorio E, Gámez JM, Molina P, Govea N, Crémer D.

Rev Esp Cardiol (Engl Ed). 2015 Nov;68(11):1027-9. doi: 10.1016/j.rec.2015.07.007. Epub 2015 Oct 1. No abstract available.


Autoimmune-like hepatitis during masitinib therapy in an amyotrophic lateral sclerosis patient.

Salvado M, Vargas V, Vidal M, Simon-Talero M, Camacho J, Gamez J.

World J Gastroenterol. 2015 Sep 28;21(36):10475-9. doi: 10.3748/wjg.v21.i36.10475.


Incomplete penetrance in the Spanish family with limb-girdle muscular dystrophy type 1F.

Gamez J, Salvadó M, Gratacós M.

Muscle Nerve. 2016 Jan;53(1):156-7. doi: 10.1002/mus.24900. Epub 2015 Sep 23. No abstract available.


Absence of HINT1 mutations in a UK and Spanish cohort of patients with inherited neuropathies.

Horga A, Cottenie E, Tomaselli PJ, Rojas-García R, Salvado M, Villarreal-Pérez L, Gamez J, Márquez-Infante C, Houlden H, Reilly MM.

J Neurol. 2015 Aug;262(8):1984-6. doi: 10.1007/s00415-015-7851-z. Epub 2015 Jul 21.


UNC13A confers risk for sporadic ALS and influences survival in a Spanish cohort.

Vidal-Taboada JM, Lopez-Lopez A, Salvado M, Lorenzo L, Garcia C, Mahy N, Rodríguez MJ, Gamez J.

J Neurol. 2015 Oct;262(10):2285-92. doi: 10.1007/s00415-015-7843-z. Epub 2015 Jul 11.


Optimization of a Series of Triazole Containing Mammalian Target of Rapamycin (mTOR) Kinase Inhibitors and the Discovery of CC-115.

Mortensen DS, Perrin-Ninkovic SM, Shevlin G, Elsner J, Zhao J, Whitefield B, Tehrani L, Sapienza J, Riggs JR, Parnes JS, Papa P, Packard G, Lee BG, Harris R, Correa M, Bahmanyar S, Richardson SJ, Peng SX, Leisten J, Khambatta G, Hickman M, Gamez JC, Bisonette RR, Apuy J, Cathers BE, Canan SS, Moghaddam MF, Raymon HK, Worland P, Narla RK, Fultz KE, Sankar S.

J Med Chem. 2015 Jul 23;58(14):5599-608. doi: 10.1021/acs.jmedchem.5b00627. Epub 2015 Jul 8.


[Pseudoaneurysm of the superior mesenteric artery after pancreatoduodenectomy].

Ferro O, Soria J, Garcés M, Guijarro J, Gámez JM, Sabater L.

Gastroenterol Hepatol. 2016 Jun-Jul;39(6):400-2. doi: 10.1016/j.gastrohep.2015.05.003. Epub 2015 Jun 19. Spanish. No abstract available.


Discovery of mammalian target of rapamycin (mTOR) kinase inhibitor CC-223.

Mortensen DS, Perrin-Ninkovic SM, Shevlin G, Zhao J, Packard G, Bahmanyar S, Correa M, Elsner J, Harris R, Lee BG, Papa P, Parnes JS, Riggs JR, Sapienza J, Tehrani L, Whitefield B, Apuy J, Bisonette RR, Gamez JC, Hickman M, Khambatta G, Leisten J, Peng SX, Richardson SJ, Cathers BE, Canan SS, Moghaddam MF, Raymon HK, Worland P, Narla RK, Fultz KE, Sankar S.

J Med Chem. 2015 Jul 9;58(13):5323-33. doi: 10.1021/acs.jmedchem.5b00626. Epub 2015 Jun 26.


Effective Treatment of Established GL261 Murine Gliomas through Picornavirus Vaccination-Enhanced Tumor Antigen-Specific CD8+ T Cell Responses.

Renner DN, Jin F, Litterman AJ, Balgeman AJ, Hanson LM, Gamez JD, Chae M, Carlson BL, Sarkaria JN, Parney IF, Ohlfest JR, Pirko I, Pavelko KD, Johnson AJ.

PLoS One. 2015 May 1;10(5):e0125565. doi: 10.1371/journal.pone.0125565. eCollection 2015.


Correlation of Brain Atrophy, Disability, and Spinal Cord Atrophy in a Murine Model of Multiple Sclerosis.

Paz Soldán MM, Raman MR, Gamez JD, Lohrey AK, Chen Y, Pirko I, Johnson AJ.

J Neuroimaging. 2015 Jul-Aug;25(4):595-9. doi: 10.1111/jon.12250. Epub 2015 Apr 20.


Torands Revisited: Metal Sequestration and Self-Assembly of Cyclo-2,9-tris-1,10-phenanthroline Hexaaza Macrocycles.

Schwab MG, Takase M, Mavrinsky A, Pisula W, Feng X, Gámez JA, Thiel W, Mali KS, de Feyter S, Müllen K.

Chemistry. 2015 Jun 1;21(23):8426-34. doi: 10.1002/chem.201406602. Epub 2015 Apr 13.


CC-223, a Potent and Selective Inhibitor of mTOR Kinase: In Vitro and In Vivo Characterization.

Mortensen DS, Fultz KE, Xu S, Xu W, Packard G, Khambatta G, Gamez JC, Leisten J, Zhao J, Apuy J, Ghoreishi K, Hickman M, Narla RK, Bissonette R, Richardson S, Peng SX, Perrin-Ninkovic S, Tran T, Shi T, Yang WQ, Tong Z, Cathers BE, Moghaddam MF, Canan SS, Worland P, Sankar S, Raymon HK.

Mol Cancer Ther. 2015 Jun;14(6):1295-305. doi: 10.1158/1535-7163.MCT-14-1052. Epub 2015 Apr 8.


Sensorimotor neural dynamics during isochronous tapping in the medial premotor cortex of the macaque.

Merchant H, Pérez O, Bartolo R, Méndez JC, Mendoza G, Gámez J, Yc K, Prado L.

Eur J Neurosci. 2015 Mar;41(5):586-602. doi: 10.1111/ejn.12811.


Phase 3 trial of flutemetamol labeled with radioactive fluorine 18 imaging and neuritic plaque density.

Curtis C, Gamez JE, Singh U, Sadowsky CH, Villena T, Sabbagh MN, Beach TG, Duara R, Fleisher AS, Frey KA, Walker Z, Hunjan A, Holmes C, Escovar YM, Vera CX, Agronin ME, Ross J, Bozoki A, Akinola M, Shi J, Vandenberghe R, Ikonomovic MD, Sherwin PF, Grachev ID, Farrar G, Smith AP, Buckley CJ, McLain R, Salloway S.

JAMA Neurol. 2015 Mar;72(3):287-94. doi: 10.1001/jamaneurol.2014.4144.


Reducing Length of Labor and Cesarean Surgery Rate Using a Peanut Ball for Women Laboring With an Epidural.

Tussey CM, Botsios E, Gerkin RD, Kelly LA, Gamez J, Mensik J.

J Perinat Educ. 2015;24(1):16-24. doi: 10.1891/1058-1243.24.1.16.


Intravenous immunoglobulin for preparing myasthenia gravis patients for thymectomy and other surgical procedures preventing myasthenic crisis.

Gamez J.

Clin Exp Immunol. 2014 Dec;178 Suppl 1:134-5. doi: 10.1111/cei.12542. No abstract available.

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