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Page 1: PERSONAL INFORMATION Andres · PDF fileCurriculum vitae PERSONAL INFORMATION Andres Nascimento WORK EXPERIENCE January 2015–Present Paediatric Neurology Sant Joan de Déu Hospital

Curriculum vitae

PERSONAL INFORMATION Andres Nascimento

WORK EXPERIENCE

January 2015–Present Paediatric NeurologySant Joan de Déu Hospital (Spain)

2006–2016 Paediatric NeurologyDown syndrome foundation of Catalunya (Spain)

2004–2006 SCHOLARSHIP - clinical researcherRed de Enfermedades Genéticas Raras / INERGEN Sant Joan de Deu Hospital (Spain)

1999–2001 Paediatrics residencyVenezuelan central (Venezuela)

EDUCATION AND TRAINING

1990–1997 PhysicianVenezuelan Central University (Venezuela)

1998–2001 PaediatricianVenezuelan central University, JM de los Ríos Children's Hospital (Venezuela)

2003–2005 Master in Paediatrics NeurologySant Joan de Déu Hospital- Barcelona University (Spain)

ADDITIONAL INFORMATION

Expertise

Publications GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction. Montero R, Yubero D, Villarroya J, Henares D, Jou C, Rodríguez MA, Ramos F, Nascimento A, Ortez CI, Campistol J, Perez-Dueñas B, O'Callaghan M, Pineda M, Garcia- Cazorla A,Oferil JC, Montoya J, Ruiz-Pesini E, Emperador S, Meznaric M, Campderros L, Kalko SG, Villarroya F, Artuch R, Jimenez-Mallebrera C. PLoS One. 2016 Feb 11;11(2):e0148709. doi: 10.1371/journal.pone.0148709. eCollection 2016.

Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations. Natera-de Benito D, Bestué M, Vilchez JJ, Evangelista T, Töpf A, García-Ribes A, Trujillo-Tiebas MJ, García-Hoyos M, Ortez C, Camacho A, Jiménez E, Dusl M, Abicht A, Lochmüller H, Colomer J, Nascimento A.Neuromuscul Disord. 2016 Feb;26(2):153-9. doi: 10.1016/j.nmd.2015.10.013. Epub 2015 Nov 23.

KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors. Natera-de Benito D, Nascimento A, Abicht A, Ortez C, Jou C, Müller JS, Evangelista T, Töpf A, Thompson R, Jimenez-Mallebrera C, Colomer J, Lochmüller H.J Neurol. 2016 Mar;263(3):517-23. doi: 10.1007/s00415-015-8015-x. Epub 2016 Jan 11.

Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators. Paco S, Casserras T, Rodríguez MA, Jou C, Puigdelloses M, Ortez CI, Diaz-Manera J, Gallardo E, Colomer J, Nascimento A, Kalko SG, Jimenez-Mallebrera C.PLoS One. 2015 Dec 15;10(12):e0145107. doi:

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Page 2: PERSONAL INFORMATION Andres · PDF fileCurriculum vitae PERSONAL INFORMATION Andres Nascimento WORK EXPERIENCE January 2015–Present Paediatric Neurology Sant Joan de Déu Hospital

Curriculum vitae Andres Nascimento

10.1371/journal.pone.0145107. eCollection 2015.

DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations. Juan-Mateu J, Gonzalez-Quereda L, Rodriguez MJ, Baena M, Verdura E, Nascimento A, Ortez C, Baiget M, Gallano P.PLoS One. 2015 Aug 18;10(8):e0135189. doi: 10.1371/journal.pone.0135189. eCollection 2015.

O'Callaghan MM, Emperador S, Pineda M, López-Gallardo E, Montero R, Yubero D, Jou C, Jimenez Mallebrera C, Nascimento A, Ferrer I, García-Cazorla A, Ruiz-Pesini E, Montoya J, Artuch R. Mutationloads in different tissues from six pathogenic mtDNA point mutations. Mitochondrion. 2015 Mar 10;22:17-22

Bushby K, Finkel R, Wong B, Barohn R, Campbell C, Comi GP, Connolly AM, Day JW, Flanigan KM, Goemans N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B, Ryan MM, Tulinius M, Voit T,Moore SA, Lee Sweeney H, Abresch RT, Coleman KL, Eagle M, Florence J, Gappmaier E, GlanzmanAM, Henricson E, Barth J, Elfring GL, Reha A, Spiegel RJ, O'donnell MW, Peltz SW, Mcdonald CM; PTC124-GD-007-DMD STUDY GROUP.

Ataluren treatment of patients with nonsense mutation dystrophinopathy. Muscle Nerve. 2014 Oct;50(4):477-87.

Rodrigues F, Grenha J, Ortez C, Nascimento A, Morte B, M-Belinchón M, Armstrong J, Colomer J. Hypotonic male infant and MCT8 deficiency - a diagnosis to think about. BMC Pediatr. 2014 Oct 4;14:252.

Casado M, Altimira L, Montero R, Castejón E, Nascimento A, Pérez-Dueñas B,Ormazabal A, Artuch R. A capillary electrophoresis procedure for the screening of oligosaccharidoses and RELATED diseases. Anal Bioanal Chem. 2014 Jul;406(18):4337-43

S G Kalko, S Paco, C Jou, M Meznaric, M Rogac, M Jekovec-Vrhovsek, M Sciacco, M Moggio, G Fagiolari, B De Paepe, L De Meirleir, I Ferrer, M Roig-Quilis, F Munell, J Montoya, E Lopez-Gallardo, E Ruiz-Pesini, R Artuch, R Montero, F Torner, A Nascimento, C I Ortez, J Colomer and C Jimenez-Mallebrera. Transcriptomic profiling of TK2 deficient human skeletal muscle reveals activation of the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies. BMC Genomics. 2014 Feb 1;15: 91.

Bladen CL; Thompson R; Jackson JM; Garland C; Wegel C; Ambrosini A; Pisano P; Walter MC; Schreiber O;Lusakowska A; Jedrzejowska M; Kostera-Pruszczyk A; van der Pol L; Wadman RI; Gredal O; Karaduman A;Topaloglu H; Yilmaz O; Matyushenko V; Rasic VM; Kosac A; Karcagi V; Garami M; Herczegfalvi A; Monges S;Moresco A; Chertkoff L; Chamova T; Guergueltcheva V; Butoianu N; Craiu D; Korngut L; Campbell C; Haberlova J; Strenkova J; Alejandro M; Jimenez A; OrtizGG; Enriquez GV; Rodrigues M; Roxburgh R; Dawkins H; Youngs L; Lahdetie J; Angelkova N; Saugier-Veber P; Cuisset JM; Bloetzer C; Jeannet PY; Klein A; Andrés Nascimiento Osorio; Tizzano E; Salgado D; Mercuri E; Sejersen T; Kirschner J; Rafferty K; Straub V; Bushby K; Verschuuren J; Beroud C; Lochmüller H. Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.JOURNAL OF NEUROLOGY. 27/10/2013.

S Paco; SG Kalko; C Jou; MA Rodríguez; J Corbera; F Muntoni; L Feng; E Rivas; FTorner; AM Gomez-Foix; A Ferrer; C Ortez; A Nascimento; J Colomer; C Jimenez- Mallebrera.Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets.PLoS One. 2013 Oct 11;8(10):e77430. A

Montero R, Grazina M, López-Gallardo E, Montoya J, Briones P, Navarro-Sastre A, Land JM, Hargreaves IP, Artuch R; Coenzyme Q(10) deficiency study group. Collaborators (17) Del Mar O'Callaghan M, Jou C, Jimenez C, Buján N, Pineda M, García-Cazorla A, Nascimento A, Perez-Dueñas B, Ruiz-Pesini E, Fratter C, Salviati L, Simões M, Mendes C, Santos MJ, Diogo L, Garcia P, Navas P. Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes. Mitochondrion. 2013 Jul;13(4):337-41.

Juan-Mateu J, González-Quereda L, Rodríguez MJ, Verdura E, Lázaro K, Jou C, Nascimento A, Jiménez-Mallebrera C, Colomer J, Monges S, Lubieniecki F, Foncuberta ME, Pascual-Pascual SI, Molano J, Baiget M, Gallano P. Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes. PLoS One. 2013;8(3):e59916..

Jiménez E; MªAngels García Cazorla; Jaume Colomer Oferil; Andrés Nascimiento Osorio; Martin Iriondo Sanz; Jaume Campistol Plana. Hipotonía en el período neonatal: 12 años de experiencia.REVISTA DE NEUROLOGIA. 56 - 2, pp. 72 - 78. 16/01/2013.

Calpena E; Mercedes Casado Rio; Martínez-Rubio D; Andrés Nascimiento Osorio; Jaume Colomer Oferil; Eva Gargallo Burriel; MªAngels García Cazorla; Palau F; Rafael Artuch Iriberri; Espinós C. 5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes.Jimd Reports. 7, pp. 123 - 128.

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Curriculum vitae Andres Nascimento

01/01/2013.

Febrer A; Vigo M; Rodriguez N; Medina J; Jaume Colomer Oferil; Andrés Nascimiento Osorio. Fracturas en la atrofia muscular espinal.REVISTA DE NEUROLOGIA. 57 - 5, pp. 207

- 211. 01/09/2013

Navarro-Sastre A; Tort F; Garcia-Villoria J; Pons MR; Andrés Nascimiento Osorio; Jaume Colomer Oferil; Jaume Campistol Plana; Yoldi ME; López-Gallardo E; Montoya J; Unceta M; Martinez MJ; Briones P; Ribes A. Mitochondrial DNA depletion syndrome: new descriptions

and the use of citrate synthase as a helpful tool to better characterise the patients.MOLECULAR GENETICS AND METABOLISM. 107 - 3, pp. 409 - 415. 01/11/2012. ISSN10967192

Paco S, Ferrer I, Jou C, Cusí V, Corbera J, Torner F, Gualandi F, Sabatelli P, Orozco A, Gómez-Foix AM, Colomer J, Nascimento A, Jimenez-Mallebrera C. Muscle fiber atrophy and regeneration coexist in collagen VI-deficient human muscle: role of calpain-3 and nuclear factor-κB signaling. J Neuropathol Exp Neurol. 2012 Oct;71(10):894-906. PubMed PMID: 22975586.A.

Chaouch A; Müller JS; Guergueltcheva V; Dusl M; Schara U; Rakocevic-Stojanovic V; Lindberg C; Scola RH; Werneck LC; Jaume Colomer Oferil; Andrés Nascimiento Osorio; Vilchez JJ; Muelas N; Argov Z; Abicht A; Lochmüller H. A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome.JOURNAL OF NEUROLOGY. 259 - 3, pp. 474 - 481. 01/03/2012. ISSN 03405354

Mormeneo E; Cecilia Jiménez Mallebrera; Palomer X; De Nigris V; Vázquez-Carrera M; Orozco A; Andrés Nascimiento Osorio; Jaume Colomer Oferil; Lerín C; Gómez-Foix AM. PGC-1a induces mitochondrial and myokine transcriptional programs and lipid droplet and glycogen accumulation in cultured human skeletal muscle cells.PLoS One. 7 - 1, 01/01/2012. ISSN 19326203

Juan-Mateu J; Rodríguez MJ; Andrés Nascimiento Osorio; Cecilia Jiménez Mallebrera; González-Quereda L; Rivas E; Paradas C; Madruga M; Sánchez-Ayaso P; Cristina Jou Muñoz; González-Mera L; Munell F; Roig-Quilis M; Rabasa M; Hernández-Lain A; Díaz- Manera J; Gallardo E; Pascual J; Verdura E; Jaume Colomer Oferil; Baiget M; Olivé M; Gallano P. Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.Orphanet Journal of Rare Diseases. 7,pp. 82 - 82. 01/01/2012. ISSN 17501172

Guergueltcheva V; Müller JS; Dusl M; Senderek J; Oldfors A; Lindbergh C; Maxwell S; Jaume Colomer Oferil; Cecilia Jiménez Mallebrera; Andrés Nascimiento Osorio; Vilchez JJ; Muelas N; Kirschner J; Nafissi S; Kariminejad A; Nilipour Y; Bozorgmehr B; Najmabadi H; Rodolico C; Sieb JP; Schlotter B; Schoser B; Herrmann R; Voit T; Steinlein OK; Najafi A; Urtizberea A; Soler DM; Muntoni F; Hanna MG; Chaouch A; Straub V; Bushby K; Palace J; Beeson D; Abicht A; Lochmüller H. Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.JOURNAL OF NEUROLOGY. 06/10/2011. ISSN 03405354

Senderek J; Müller JS; Dusl M; Strom TM; Guergueltcheva V; Diepolder I; Laval SH; Maxwell S; Cossins J; Krause S; Muelas N; Vilchez JJ; Jaume Colomer Oferil; Cecilia Jiménez Mallebrera; Andrés Nascimiento Osorio; Nafissi S; Kariminejad A; Nilipour Y; Bozorgmehr B; Najmabadi H; Rodolico C; Sieb JP; Steinlein OK; Schlotter B; Schoser B; Kirschner J; Herrmann R; Voit T; Oldfors A;Lindbergh C; Urtizberea A; von der Hagen M; Hübner A; Palace J; Bushby K; Straub V; Beeson D; Abicht A; Lochmüller H. Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.AMERICAN JOURNAL OF HUMAN GENETICS. 88 - 2, pp. 162 - 172. 11/02/2011. ISSN 00029297

Loreto Martorell Sampol; Nascimento MT; Colomer J; Jordi Genovès Escarré; Montserrat Naudó Lahoz; Andrés Nascimiento Osorio. 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.JOURNAL OF HUMAN GENETICS. 56 - 1, pp. 87 - 90. 01/01/2011. ISSN 14345161

Martí R; Andrés Nascimiento Osorio; Jaume Colomer Oferil; Lara MC; López-Gallardo E; Ruiz-Pesini E; MontoyaJ; Andreu AL; Briones P; Mercè Pineda Marfà. Hearing loss in a patient with the myopathicform of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene.PEDIATRIC RESEARCH. 68 - 2, pp. 151 - 154. 01/08/2010. ISSN 00313998

Raymond F; Métairon S; Kussmann M; Jaume Colomer Oferil; Andrés Nascimiento Osorio;

Mormeneo E; García-Martínez C; Gómez-Foix AM. Comparative gene expression profiling between human cultured myotubes and skeletal muscle tissue.BMC GENOMICS. 11, pp. 125

- 125. 01/01/2010

Rotthier A; Baets J; De Vriendt E; Jacobs A; Auer-Grumbach M; Lévy N; Bonello-Palot N; Kilic SS; Weis J; Andrés Nascimiento Osorio; Swinkels M; Kruyt MC; Jordanova A; De Jonghe P; Timmerman V. Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype

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Curriculum vitae Andres Nascimento

correlation.BRAIN. 132 - Pt 10, pp. 2699 - 2711. 01/10/2009.

Infantile Spasms and Down Syndrome. Nascimento A, Ortez C. Rev Med Int Sindr Down 2009; 13(2):22 24.Down syndrome and Hashimoto’s encephalitis. A. Abeledo, C. E. Valera,

P. Poo, C. I. Ortez, A. Nascimento, P. Casano. Rev Med Int Sindr Down. 2010;14(1):10-13.

Cecilia Jiménez Mallebrera; Andrés Nascimiento Osorio; María Victoria Cusi Sánchez; Corbera JR; Rolland MO; Froissart R; Olivé M; Ferrer I; Jaume Colomer Oferil. Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period.HISTOPATHOLOGY. 54 - 6, pp. 765 - 768. 01/05/2009. ISSN 03090167

Quijano-Roy S; Mbieleu B; Bönnemann CG; Jeannet PY; Jaume Colomer Oferil; Clarke NF; Cuisset JM; Roper H; De Meirleir L; D'Amico A; Ben Yaou R; Andrés Nascimiento Osorio; Barois A; Demay L; Bertini E; Ferreiro A; Sewry CA; Romero NB; Ryan M; Muntoni F; Guicheney P; Richard P; Bonne G; Estournet B. De novo LMNA mutations cause a new form of congenital muscular dystrophy.ANNALS OF NEUROLOGY. 64 - 2, pp. 177 - 186.01/08/2008. ISSN 03645134

Projects Title: Role of collagen VI and biglican in skeletal muscle cell homeostasis: regulation of muscle cell size and metabolism. Implications for Muscular Dystrophy. Project No/Ref: PI13/00837. Funding Agency: Instituto de Salud Carlos III. Dates: 2014-2017

IP: Cecilia Jiménez-Mallebrera

Title: Genetic Resolution of Congenital Muscular Dystrophies: Application of Whole Exome Sequencing. Project No/Ref: N/A. Funding Agency: Centro Nacional de Análisis Genómico (CNAG): 300 exomes to elucidate rare diseases program 2013.

Dates: 2014-2015. PI: Cecilia Jiménez-Mallebrera

A Phase 3, Randomized, Double-blind, Sham-Procedure Controlled Study to Assess the Clinical Efficacy and Safety of ISIS 396443 – CS4 and – CS11.. Administered Intrathecally in Patients with Later-onset Spinal Muscular Atrophy. Sponsor: Isis Pharmaceuticals, Principal Investigator (IP): Andrés Nascimento . Start date: 201/06/ 015 – currently.

Project title: Phase III Extensión International Study in Nonsense-Mutation-Mediated DMD/BMD. PTC124-GD-020e-DMD. Sponsor: PTC Therapeutics. Principal Investigator ( IP): Andrés Nascimento. Start date:01 /08/2014 End date : 13/01/2016

2012 -2014 Clinical collaborator in the project: New perspectives on the muscular dystrophies. Instituto de Salud Carlos III. IP: Cecilia Jimenez Mallebrera.

2013. Principal investigator (IP): The therapeutic trial Phase III. Study to determine the efficacy and safety of the PTC124 in subjects with Duchenne muscular dystrophy and Becker mediated by a nonsense mutation. Protocol code PTC124-GD-020-DMD. (2013

– 2014) IP: Andrés Nascimento.

2013. Sub investigator in the project: A phase II, clinical study to assess efficacy, safety, tolerability andpharmacokinetics in ambulant subjects with Duchenne Muscular

Dystrophy. DMD114044: Glaxo Smithkline, IP: Jaume Colomer

2012. Sub investigator: The therapeutic trial "Phase Extension study to determine the efficacy and safety of the PTC124 in subjects with Duchenne muscular dystrophy and Becker mediated by a nonsense mutation. Protocol code PTC124-GD-019-DMD. IP: Jaume Colomer.

2011: Sub investigator: Exon skipping in Duchenne Muscular Dystrophy to correct the reading frame of the DMD gene message. A phase III clinical study to assess efficacy, safety, tolerability and pharmacokinetics in ambulant subjects with Duchenne Muscular Dystrophy. (25/01/2012 - 13/01/2014) IP: Jaume Colomer.

2008. Sub investigator: The therapeutic trial "Phase 2b Study to determine the efficacy and safety dePTC124 in subjects with Duchenne muscular dystrophy and Becker mediated by a nonsense mutation. Protocol code PTC124-GD-007-DMD. (2008 - 2009) IP: Jaume Colomer.

Memberships

Other Relevant Information

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