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1

Empowerment and recovery in the mental health field in Brazil: Socio-historical context, cross-national aspects, and critical considerations

Vasconcelos, Eduardo Mourão, Desviat, Manuel

Journal:

American Journal of Psychiatric Rehabilitation

Year:

2017

Language:

english

File:

PDF, 542 KB

english, 2017

2

«Precariado» y control social: asistencialismo y exclusión en el ámbito de la salud mental

Desviat, Manuel

Journal:

Cuadernos de Trabajo Social

Year:

2017

File:

PDF, 76 KB

2017

3

Panorama actual de las políticas de bienestar y la reforma psiquiátrica en España

Desviat, Manuel

Journal:

Estudos de Psicologia (Natal)

Year:

2011

File:

PDF, 754 KB

2011

4

Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)

Eva Richard, Ana Jorge-Finnigan, Judit Garcia-Villoria, Begoña Merinero, Lourdes R. Desviat, Laura Gort, Paz Briones, Fátima Leal, Celia Pérez-Cerdá, Antonia Ribes, Magdalena Ugarte, Belén Pérez

Journal:

Year:

2009

Language:

english

File:

PDF, 254 KB

english, 2009

5

Potential relationship between genotype and clinical outcome in propionic acidaemia patients

Pérez-Cerdá, C, Merinero, B, Rodríguez-Pombo, P, Pérez, B, Desviat, L R, Muro, S, Richard, E, García, M J, Gangoiti, J, Sala, P Ruiz

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 197 KB

english, 2000

6

The activity of wild type and mutant phenylalanine hydroxylase with respect to the C-oxidation of phenylalanine and the S-oxidation of S-carboxymethyl-l-cysteine

Glyn B. Steventon, Stephen C. Mitchell, Belen Pérez, Lourdes R. Desviat, Magdalena Ugarte

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 264 KB

english, 2009

7

Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain

Couce, M.L., Bóveda, M.D., Fernández-Marmiesse, A., Mirás, A., Pérez, B., Desviat, L.R., Fraga, J.M.

Journal:

Year:

2013

Language:

english

File:

PDF, 176 KB

english, 2013

8

Molecular epidemiology and genotype–phenotype correlation in phenylketonuria patients from South Spain

Bueno, María A, González-Lamuño, Domingo, Delgado-Pecellín, Carmen, Aldámiz-Echevarría, Luís, Pérez, Belén, Desviat, Lourdes R, Couce, María L

Journal:

Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 264 KB

english, 2013

9

Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations

Matos, Liliana, Canals, Isaac, Dridi, Larbi, Choi, Yoo, Prata, Maria, Jordan, Peter, Desviat, Lourdes R, Pérez, Belén, Pshezhetsky, Alexey V, Grinberg, Daniel, Alves, Sandra, Vilageliu, Lluïsa

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 1.17 MB

english, 2014

10

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

Brasil, Sandra, Leal, Fátima, Vega, Ana, Navarrete, Rosa, Ecay, María Jesús, Desviat, Lourdes R., Riera, Casandra, Padilla, Natàlia, de la Cruz, Xavier, Couce, Mari Luz, Martin-Hernández, Elena, Morai

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 2.01 MB

english, 2018

11

Reforma Psiquiátrica no Rio de Janeiro: situação atual e perspectivas futuras

Fagundes Júnior, Hugo Marques, Desviat, Manuel, Silva, Paulo Roberto Fagundes da

Journal:

Ciência & Saúde Coletiva

Year:

2016

Language:

english

File:

PDF, 95 KB

english, 2016

12

Evaluation of social disablement, psychiatric symptoms and autonomy in long-stay psychiatric patients

Abelha, Lúcia, Muñoz, Manuel Desviat, Gonçalves, Sylvia, Fagundes, Paulo, Barbosa, Denise Rebouças, Legay, Letícia Fortes, Lovisi, Giovanni

Journal:

Revista de Psiquiatria Clínica

Year:

2006

File:

PDF, 300 KB

2006

13

Mutation analysis of phenylketonuria in South Brazil

Belén Pérez, Lourdes R. Desviat, Marisel De Lucca, Benjamin Schmidt, Nicole Loghin-Grosso, Roberto Giugliani, Ricardo F. Pires, Magdalena Ugarte

Journal:

Year:

1996

Language:

english

File:

PDF, 326 KB

english, 1996

14

Phenylketonuria in Spanish Gypsies: Prevalence of the IVS10nt546 mutation on haplotype 34

Lourdes R. Desviat, Belén Pérez, Magdalena Ugarte

Journal:

Year:

1997

Language:

english

File:

PDF, 104 KB

english, 1997

15

Molecular basis of phenylketonuria in Venezuela: Presence of two novel null mutations

Marisel De Lucca, Belén Pérez, Lourdes R. Desviat, Magdalena Ugarte

Journal:

Year:

1998

Language:

english

File:

PDF, 156 KB

english, 1998

16

Molecular characterization of phenylalanine hydroxylase deficiency in Chile

Belén Pérez, Lourdes R. Desviat, Marisel De Lucca, Veronica Cornejo, Erna Raimann, Magdalena Ugarte

Journal:

Year:

1999

Language:

english

File:

PDF, 28 KB

english, 1999

17

Identification of novel mutations in the PCCB gene in European propionic acidemia patients

Silvia Muro, Pilar Rodríguez-Pombo, Belén Pérez, Celia Pérez-Cerdá, Lourdes R. Desviat, Wolfgang Sperl, Daniela Skladal, Jörn Oliver Sass, Magdalena Ugarte

Journal:

Year:

1999

Language:

english

File:

PDF, 42 KB

english, 1999

18

Overview of mutations in the PCCA and PCCB genes causing propionic acidemia

Magdalena Ugarte, Celia Pérez-Cerdá, Pilar Rodríguez-Pombo, Lourdes R. Desviat, Belén Pérez, Eva Richard, Silvia Muro, Eric Campeau, Toshihiro Ohura, Roy A. Gravel

Journal:

Year:

1999

Language:

english

File:

PDF, 296 KB

english, 1999

19

Maternal polymorphisms 677C-T and 1298A-C of MTHFR, and 66A-G MTRR genes: Is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome?

María-Luisa Martínez-Frías, Belén Pérez, Lourdes R. Desviat, Margarita Castro, Fátima Leal, Laura Rodríguez, Elena Mansilla, María-Luisa Martínez-Fernández, Eva Bermejo, Elvira Rodríguez-Pinilla, Davi

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 153 KB

english, 2006

20

Phenylketonuria: Genotype–phenotype correlations based on expression analysis of structural and functional mutations in PAH

Angel L. Pey, Lourdes R. Desviat, Alejandra Gámez, Magdalena Ugarte, Belén Pérez

Journal:

Year:

2003

Language:

english

File:

PDF, 272 KB

english, 2003

21

Molecular basis of phenylketonuria in Cuba

L.R. Desviat, B. Pérez, E. Gutierrez, A. Sánchez, B. Barrios, M. Ugarte

Journal:

Year:

2001

Language:

english

File:

PDF, 20 KB

english, 2001

22

Expression analysis of mutation P244L, which causes mild hyperphenylalaninemia

Belén Pérez, Lourdes R. Desviat, Magdalena Ugarte

Journal:

Year:

1995

Language:

english

File:

PDF, 300 KB

english, 1995

23

Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations

Angel L. Pey, Belén Pérez, Lourdes R. Desviat, Ma Angeles Martínez, Cristina Aguado, Heidi Erlandsen, Alejandra Gámez, Raymond C. Stevens, Matthías Thórólfsson, Magdalena Ugarte, Aurora Martínez

Journal:

Year:

2004

Language:

english

File:

PDF, 390 KB

english, 2004

24

Functional analysis of three splicing mutations identified in the PMM2 gene: Toward a new therapy for congenital disorder of glycosylation type Ia

Ana I. Vega, Celia Pérez-Cerdá, Lourdes R. Desviat, Gert Matthijs, Magdalena Ugarte, Belén Pérez

Journal:

Year:

2009

Language:

english

File:

PDF, 314 KB

english, 2009

25

Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria)

B. Pérez, A. Rincón, A. Jorge-Finnigan, E. Richard, B. Merinero, M. Ugarte, L.R. Desviat

Journal:

Year:

2009

Language:

english

File:

PDF, 287 KB

english, 2009

26

Functional and structural analysis of five mutations identified in methylmalonic aciduria cbIB type

Ana Jorge-Finnigan, Cristina Aguado, Rocio Sánchez-Alcudia, David Abia, Eva Richard, Begoña Merinero, Alejandra Gámez, Ruma Banerjee, Lourdes R. Desviat, Magdalena Ugarte, Belen Pérez

Journal:

Year:

2010

Language:

english

File:

PDF, 477 KB

english, 2010

27

Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency

Sandra Brasil, Hiu Man Viecelli, David Meili, Anahita Rassi, Lourdes R. Desviat, Belen Pérez, Magdalena Ugarte, Beat Thöny

Journal:

Year:

2011

Language:

english

File:

PDF, 404 KB

english, 2011

28

Mutation analysis of phenylketonuria patients from Morocco: High prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X

Saloua Dahri, Lourdes R. Desviat, Belén Pérez, Fátima Leal, Magdalena Ugarte, Layachi Chabraoui

Journal:

Clinical Biochemistry

Year:

2010

Language:

english

File:

PDF, 508 KB

english, 2010

29

Methylmalonic acidaemia leads to increased production of reactive oxygen species and induction of apoptosis through the mitochondrial/caspase pathway

E Richard, A Alvarez-Barrientos, B Pérez, LR Desviat, M Ugarte

Journal:

The Journal of Pathology

Year:

2007

Language:

english

File:

PDF, 758 KB

english, 2007

30

Prenatal diagnosis of propionic acidemia

C. Pérez-Cerdá, B. Pérez, B. Merinero, L. R. Desviat, P. Rodríguez Pombo, M. Ugarte

Journal:

Prenatal Diagnosis

Year:

2004

Language:

english

File:

PDF, 92 KB

english, 2004

31

Mutation analysis of phenylketonuria in Spain: prevalence of two Mediterranean mutations

Belén Pérez, Lourdes R. Desviat, Mar Die, Magdalena Ugarte

Journal:

Year:

1992

Language:

english

File:

PDF, 211 KB

english, 1992

32

Phenylketonuria in Spain: RFLP haplotypes and linked mutations

Lourdes R. Desviat, Belén Pérez, Magdalena Ugarte

Journal:

Year:

1993

Language:

english

File:

PDF, 443 KB

english, 1993

33

Different phenotypic manifestations associated with identical phenylketonuria genotypes in two Spanish families

B. Pérez, L. R. Desviat, M. J. García, M. Ugarte

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 96 KB

english, 1994

34

Phenotype distribution in the Spanish phenylketonuria population and related genotypes

M. Martínez-Pardo, A. R. Colmenares, M. J. García, B. Pérez, L. R. Desviat, M. Ugarte

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 148 KB

english, 1994

35

Molecular basis of non-PKU hyperphenylalaninaemia in Spain: Prevalence of A403V, a mutation with high residual activity

L. R. Desviat, B. Pérez, M. Ugarte

Journal:

Journal of Inherited Metabolic Disease

Year:

1996

Language:

english

File:

PDF, 249 KB

english, 1996

36

Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes

Sonia Clavero, Belén Pérez, Ana Rincón, Magdalena Ugarte, Lourdes R. Desviat

Journal:

Year:

2004

Language:

english

File:

PDF, 733 KB

english, 2004

37

The STR252 – IVS10nt546 – VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples

Francesco Calì, Irma Dianzani, Lourdes R. Desviat, Belen Perez, Magdalena Ugarte, Meral Ozguc, Volkan Seyrantepe, Yossi Shiloh, Sergio Giannattasio, Carla Carducci, Paolo Bosco, Giacomo De Leo, Albert

Journal:

Year:

1997

Language:

english

File:

PDF, 92 KB

english, 1997

38

Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients

E. Richard, Lourdes R. Desviat, Belén Pérez, Celia Pérez-Cerdá, M. Ugarte

Journal:

Year:

1997

Language:

english

File:

PDF, 51 KB

english, 1997

39

New splicing mutations in propionic acidemia

Lourdes R. Desviat, Sonia Clavero, Celia Perez-Cerdá, Rosa Navarrete, Magdalena Ugarte, Belen Perez

Journal:

Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 251 KB

english, 2006

40

Methylmalonic acidaemia: Examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group

B. Merinero, B. Pérez, C. Pérez-Cerdá, A. Rincón, L. R. Desviat, M. A. Martínez, P. Ruiz Sala, M. J. García, L. Aldamiz-Echevarría, J. Campos, V. Cornejo, M. del Toro, A. Mahfoud, M. Martínez-Pardo, R

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 416 KB

english, 2008

41

Study of inborn errors of metabolism in urine from patients with unexplained mental retardation

Angela Sempere, Angela Arias, Guillermo Farré, Judith García-Villoria, Pilar Rodríguez-Pombo, Lurdes R. Desviat, Begoña Merinero, Angels García-Cazorla, Maria A. Vilaseca, Antonia Ribes, Rafael Artuch

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 135 KB

english, 2010

42

The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America

Belén Pérez, Celia Angaroni, Rocio Sánchez-Alcudia, Begoña Merinero, Celia Pérez-Cerdá, N. Specola, P. Rodríguez-Pombo, Moacir Wajner, Raquel Dodelson de Kremer, Verónica Cornejo, Lourdes R. Desviat,

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 147 KB

english, 2010

43

Present and future of antisense therapy for splicing modulation in inherited metabolic disease

Belen Pérez, Laura Rodríguez-Pascau, Luisa Vilageliu, Daniel Grinberg, Magdalena Ugarte, Lourdes R. Desviat

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 151 KB

english, 2010

44

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG)

Ana Isabel Vega, Celia Pérez-Cerdá, David Abia, Alejandra Gámez, Paz Briones, Rafael Artuch, Lourdes R. Desviat, Magdalena Ugarte, Belén Pérez

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 434 KB

english, 2011

45

The Missense p.S231F Phenylalanine Hydroxylase Gene Mutation Causes Complete Loss of Enzymatic Activity In Vitro

Maja Stojiljkovic, Belén Pérez, Lourdes R. Desviat, Cristina Aguado, Magdalena Ugarte, Sonja Pavlovic

Journal:

The Protein Journal

Year:

2009

Language:

english

File:

PDF, 252 KB

english, 2009

46

Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions

Desviat, L R, Pérez, B, Gámez, A, Sánchez, A, García, M J, Martínez-Pardo, M, Marchante, C, Bóveda, D, Baldellou, A, Arena, J

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 99 KB

english, 1999

47

Mutations affecting the β–β homomeric interaction in propionic acidaemia: An approach to the determination of the β-propionyl-CoA carboxylase functional domains

S. Muro, B. Pérez, P. Rodríguez-Pombo, L. R. Desviat, C. Pérez-Cerd´, M. Ugarte

Journal:

Journal of Inherited Metabolic Disease

Year:

2000

Language:

english

File:

PDF, 92 KB

english, 2000

48

Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia

Rocío Sánchez-Alcudia, Belén Pérez, Magdalena Ugarte, Lourdes R. Desviat

Journal:

Year:

2012

Language:

english

File:

PDF, 345 KB

english, 2012

49

Novel features in the evolution of adenylosuccinate lyase deficiency

Belén Pérez-Dueñas, Ángela Sempere, Jaume Campistol, Itziar Alonso-Colmenero, María Díez, Verónica González, Begoña Merinero, Lourdes R. Desviat, Rafael Artuch

Journal:

European Journal of Paediatric Neurology

Year:

2012

Language:

english

File:

PDF, 730 KB

english, 2012

50

Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia

Gallego-Villar, Lorena, Pérez-Cerdá, Celia, Pérez, Belén, Abia, David, Ugarte, Magdalena, Richard, Eva, Desviat, Lourdes R.

Journal:

Journal of Inherited Metabolic Disease

Year:

2013

Language:

english

File:

PDF, 470 KB

english, 2013

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