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1

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations

Stephan Kemp, Aurora Pujol, Hans R. Waterham, Björn M. van Geel, Corinne D. Boehm, Gerald V. Raymond, Garry R. Cutting, Ronald J.A. Wanders, Hugo W. Moser

Journal:

Year:

2001

Language:

english

File:

PDF, 384 KB

english, 2001

2

Ceramide signalling in inherited and multifactorial brain metabolic diseases

Pant, Devesh C., Aguilera-Albesa, Sergio, Pujol, Aurora

Journal:

Neurobiology of Disease

Year:

2020

File:

PDF, 1.24 MB

2020

3

¿Qué libros te han interesado más en 1985?

Review by: ROSARIO BOFILL, DOMINGO MARCHENA, CARLOS PUJOL, ENRIQUE SORDO, JOSE LUIS GARCIA MARTIN, CARLOS DIAZ, JULIAN RUIZ DIAZ and AURORA DIAZ PLAJA

Journal:

Year:

1985

File:

PDF, 694 KB

1985

4

Deregulation of purine metabolism in Alzheimer's disease

Ansoleaga, Belén, Jové, Mariona, Schlüter, Agatha, Garcia-Esparcia, Paula, Moreno, Jesús, Pujol, Aurora, Pamplona, Reinald, Portero-Otín, Manuel, Ferrer, Isidre

Journal:

Neurobiology of Aging

Year:

2015

Language:

english

File:

PDF, 2.01 MB

english, 2015

5

Epigenomic signature of adrenoleukodystrophy predicts compromised oligodendrocyte differentiation

Schlüter, Agatha, Sandoval, Juan, Fourcade, Stéphane, Díaz-Lagares, Angel, Ruiz, Montserrat, Casaccia, Patrizia, Esteller, Manel, Pujol, Aurora

Journal:

Brain Pathology

Year:

2018

Language:

english

File:

PDF, 37.62 MB

english, 2018

6

Improvement of the Rett Syndrome Phenotype in a Mecp2 Mouse Model Upon Treatment with Levodopa and a Dopa-Decarboxylase Inhibitor

Szczesna, Karolina, de la Caridad, Olga, Petazzi, Paolo, Soler, Marta, Roa, Laura, Saez, Mauricio A, Fourcade, Stéphane, Pujol, Aurora, Artuch-Iriberri, Rafael, Molero-Luis, Marta, Vidal, August, Huer

Journal:

Neuropsychopharmacology

Year:

2014

Language:

english

File:

PDF, 2.88 MB

english, 2014

7

Histone Deacetylase Inhibitor Upregulates Peroxisomal Fatty Acid Oxidation and Inhibits Apoptotic Cell Death in Abcd1-Deficient Glial Cells

Singh, Jaspreet, Khan, Mushfiquddin, Pujol, Aurora, Baarine, Mauhamad, Singh, Inderjit, Linker, Ralf Andreas

Journal:

Year:

2013

Language:

english

File:

PDF, 3.62 MB

english, 2013

8

Amyloid Generation and Dysfunctional Immunoproteasome Activation with Disease Progression in Animal Model of Familial Alzheimer's Disease

Ester Aso, Selene Lomoio, Irene López-González, Laura Joda, Margarita Carmona, Núria Fernández-Yagüe, Jesús Moreno, Salvador Juvés, Aurora Pujol, Reinald Pamplona, Manuel Portero-Otin, Virginia Martín

Journal:

Brain Pathology

Year:

2012

Language:

english

File:

PDF, 3.18 MB

english, 2012

9

Evaluation of afferent pain pathways in adrenomyeloneuropathic patients

Yagüe, Sara, Veciana, Misericordia, Casasnovas, Carlos, Ruiz, Montserrat, Pedro, Jordi, Valls-Solé, Josep, Pujol, Aurora

Journal:

Clinical Neurophysiology

Year:

2017

Language:

english

File:

PDF, 1.22 MB

english, 2017

10

Anti-peripherin B lymphocytes are positively selected during diabetogenesis

Jorge Carrillo, Maria Carmen Puertas, Raquel Planas, Xavier Pastor, Aurora Alba, Thomas Stratmann, Ricardo Pujol-Borrell, Rosa Maria Ampudia, Marta Vives-Pi, Joan Verdaguer

Journal:

Molecular Immunology

Year:

2008

Language:

english

File:

PDF, 582 KB

english, 2008

11

SPIE Proceedings [SPIE BiOS Europe '95 - Barcelona, Spain (Tuesday 12 September 1995)] Lasers in Ophthalmology III - Objective evaluation of the quality of the retinal image in contact lens wearers

Pujol, Jaume, Torrents, Aurora G., Gispets, J., Birngruber, Reginald, Fercher, Adolf F.

Year:

1996

Language:

english

File:

PDF, 647 KB

english, 1996

12

Genetic variants in HSD17B3 , SMAD3 , and IPO11 impact circulating lipids in response to fenofibrate in individuals with type 2 diabetes

Rotroff, Daniel M., Pijut, Sonja S., Marvel, Skylar W., Jack, John R., Havener, Tammy M., Pujol, Aurora, Schluter, Agatha, Graf, Greg A., Ginsberg, Henry N., Shah, Hetal S., Gao, He, Morieri, Mario-Lu

Journal:

Clinical Pharmacology & Therapeutics

Year:

2017

Language:

english

File:

PDF, 1.99 MB

english, 2017

13

Risk of falls in 85-year-olds is associated with functional and cognitive status: The Octabaix study

Assumpta Ferrer, Francesc Formiga, Oleguer Plana-Ripoll, M. Angels Tobella, Aurora Gil, Ramón Pujol

Journal:

Archives of Gerontology and Geriatrics

Year:

2012

Language:

english

File:

PDF, 142 KB

english, 2012

14

Steroid Hormones Control Circadian Elovl3 Expression in Mouse Liver

Brolinson, Annelie, Fourcade, Stéphane, Jakobsson, Andreas, Pujol, Aurora, Jacobsson, Anders

Journal:

Year:

2008

Language:

english

File:

PDF, 312 KB

english, 2008

15

Invisible mycosis fungoides: A diagnostic challenge

Ramon M. Pujol, Fernando Gallardo, Enric Llistosella, Aurora Blanco, Lluís Bernadóc, Ramon Bordes, Josep F. Nomdedeu, Octavio Servitje

Journal:

Journal of the American Academy of Dermatology

Year:

2002

Language:

english

File:

PDF, 636 KB

english, 2002

16

Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia

Verdura, Edgard, Fons, Carme, Schlüter, Agatha, Ruiz, Montserrat, Fourcade, Stéphane, Casasnovas, Carlos, Castellano, Antonio, Pujol, Aurora

Journal:

Journal of Medical Genetics

Year:

2019

Language:

english

File:

PDF, 3.68 MB

english, 2019

17

Sequence and Analysis of a 36·2 kb Fragment from the Right Arm of Yeast Chromosome XV Reveals 19 Open Reading Frames IncludingSNF2 (5′ end),CPA1,SLY41, a Putative Transport ATPase, a Putative Ribosomal Protein and anSNF2 Homologue

POIREY, RÉMY, CZIEPLUCH, CELINA, TOBIASCH, EDDA, PUJOL, AURORA, KORDES, ELISABETH, JAUNIAUX, JEAN-CLAUDE

Journal:

Year:

1997

Language:

english

File:

PDF, 191 KB

english, 1997

18

PCR-based microsatellite analysis to accelerate diabetogenic genetic background acquisition in transgenic mice

Rosa M. Ampudia, Aurora Alba, Raquel Planas, Irma Pujol-Autonell, Concepción Mora, Joan Verdaguer, Marta Vives-Pi

Journal:

Year:

2011

File:

PDF, 263 KB

2011

19

Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H /SPG35 in 4 families

Soehn, Anne S., Rattay, Tim W., Beck-Wödl, Stefanie, Schäferhoff, Karin, Monk, David, Döbler-Neumann, Marion, Hörtnagel, Konstanze, Schlüter, Agatha, Ruiz, Montserrat, Pujol, Aurora, Züchner, Stephan,

Journal:

Year:

2016

Language:

english

File:

PDF, 818 KB

english, 2016

20

The STOP-Bang and Berlin questionnaires to identify obstructive sleep apnoea in Alzheimer’s disease patients

Jorge, Carme, Benítez, I.D., Torres, Gerard, Dakterzada, Faride, Minguez, Olga, Huerto, Raquel, Pujol, Montse, Carnes, Anna, Gaeta, Anna, Dalmases, Mireia, Gibert, Aurora, Sanchez de la Torres, Manuel

Journal:

Year:

2019

Language:

english

File:

PDF, 608 KB

english, 2019

21

General Aspects and Neuropathology of X-Linked Adrenoleukodystrophy

Isidro Ferrer, Patrick Aubourg, Aurora Pujol

Journal:

Brain Pathology

Year:

2010

Language:

english

File:

PDF, 1.24 MB

english, 2010

22

Mitochondrial dysfunction in central nervous system white matter disorders

Morató, Laia, Bertini, Enrico, Verrigni, Daniela, Ardissone, Anna, Ruiz, Montse, Ferrer, Isidre, Uziel, Graziella, Pujol, Aurora

Journal:

Year:

2014

Language:

english

File:

PDF, 885 KB

english, 2014

23

Cyclophilin D as a potential target for antioxidants in neurodegeneration: the X-ALD case

López-Erauskin, Jone, Ferrer, Isidre, Galea, Elena, Pujol, Aurora

Journal:

Biological Chemistry

Year:

2013

Language:

english

File:

PDF, 747 KB

english, 2013

24

Steroid hormones control circadian ELOVL3 expression in mouse liver

Annelie Brolinson, Stéphane Fourcade, Andreas Jakobsson, Aurora Pujol, Anders Jacobsson

Journal:

Chemistry and Physics of Lipids

Year:

2008

Language:

english

File:

PDF, 55 KB

english, 2008

25

ATP and noradrenaline activate CREB in astrocytes via noncanonical Ca2+ and cyclic AMP independent pathways

Paulina Carriba, Luis Pardo, Arnaldo Parra-Damas, Mathieu P. Lichtenstein, Carlos A. Saura, Aurora Pujol, Roser Masgrau, Elena Galea

Journal:

Year:

2012

Language:

english

File:

PDF, 1.83 MB

english, 2012

26

Ensayo clínico aleatorizado de prevención de caídas y malnutrición en personas de 85 años en la comunidad. Estudio OCTABAIX

Assumpta Ferrer, Teresa Badia, Francesc Formiga, Aurora Gil, Glòria Padrós, Marta Sarró, Jesús Almeda, Ramón Pujol

Journal:

Revista Española de Geriatría y Gerontología

Year:

2010

File:

PDF, 314 KB

2010

27

Functional Genomics Reveals Dysregulation of Cortical Olfactory Receptors in Parkinson Disease: Novel Putative Chemoreceptors in the Human Brain

Garcia-Esparcia, Paula, Schlüter, Agatha, Carmona, Margarita, Moreno, Jesús, Ansoleaga, Belen, Torrejón-Escribano, Benjamín, Gustincich, Stefano, Pujol, Aurora, Ferrer, Isidre

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

2013

Language:

english

File:

PDF, 1.98 MB

english, 2013

28

Pathomechanisms Underlying X-Adrenoleukodystrophy: A Three-Hit Hypothesis

Inderjit Singh, Aurora Pujol

Journal:

Brain Pathology

Year:

2010

Language:

english

File:

PDF, 280 KB

english, 2010

29

Astrocytes and mitochondria from adrenoleukodystrophy protein (ABCD1)-deficient mice reveal that the adrenoleukodystrophy-associated very long-chain fatty acids target several cellular energy-dependent functions

Kruska, Nicol, Schönfeld, Peter, Pujol, Aurora, Reiser, Georg

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2015

Language:

english

File:

PDF, 1.77 MB

english, 2015

30

A view on clinical genetics and genomics in Spain: of challenges and opportunities

Pàmpols, Teresa, Ramos, Feliciano J., Lapunzina, Pablo, Gozalo-Salellas, Ignasi, Pérez-Jurado, Luis A., Pujol, Aurora

Journal:

Molecular Genetics & Genomic Medicine

Year:

2016

Language:

english

File:

PDF, 1.48 MB

english, 2016

31

Current and Future Pharmacological Treatment Strategies in X-Linked Adrenoleukodystrophy

Johannes Berger, Aurora Pujol, Patrick Aubourg, Sonja Forss-Petter

Journal:

Brain Pathology

Year:

2010

Language:

english

File:

PDF, 142 KB

english, 2010

32

Antioxidants halt axonal degeneration in a mouse model of X-adrenoleukodystrophy

Jone López-Erauskin, Stéphane Fourcade, Jorge Galino, Montserrat Ruiz, Agatha Schlüter, Alba Naudi, Mariona Jove, Manuel Portero-Otin, Reinald Pamplona, Isidre Ferrer, Aurora Pujol

Journal:

Annals of Neurology

Year:

2011

Language:

english

File:

PDF, 708 KB

english, 2011

33

Newly diagnosed versus relapsed idiopathic thrombotic thrombocytopenic purpura: a comparison of presenting clinical characteristics and response to treatment

Alberto Alvarez-Larrán, Julio del Río-Garma, Misericòrdia Pujol, Javier de la Rubia, Manuel Hernández-Jodra, Montserrat Borrell, José R. González-Porras, José M. García-Gala, Aurora Viejo, Lourdes Enr

Journal:

Annals of Hematology

Year:

2009

Language:

english

File:

PDF, 118 KB

english, 2009

34

Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy

Launay, Nathalie, Aguado, Carmen, Fourcade, Stéphane, Ruiz, Montserrat, Grau, Laia, Riera, Jordi, Guilera, Cristina, Giròs, Marisa, Ferrer, Isidre, Knecht, Erwin, Pujol, Aurora

Journal:

Acta Neuropathologica

Year:

2015

Language:

english

File:

PDF, 10.64 MB

english, 2015

35

Obstructive sleep apnoea and cognitive decline in mild-to-moderate Alzheimer's disease

Jorge, Carmen, Targa, Adriano, BenÃtez, IvÃ¡n David, Dakterzada, Faride, Torres, Gerard, Minguez, Olga, Carnes, Anna, Pujol, Montse, Gibert, Aurora, LÃ³pez, Ricard, Gaeta, Anna Michela, Dalmases, Mir

Journal:

European Respiratory Journal

Year:

2020

File:

PDF, 1.37 MB

2020

36

Sequencing analysis of a 40·2 kb fragment of yeast chromosome X reveals 19 open reading frames including URA2 (5′ end), TRK1, PBS2, SPT10, GCD14, RPE1, PHO86, NCA3, ASF1, CCT7, GZF3, two tRNA genes, three remnant delta elements and a Ty4 transposon

Cziepluch, Celina, Kordes, Elisabeth, Pujol, Aurora, Jauniaux, Jean-Claude

Journal:

Year:

1996

Language:

english

File:

PDF, 308 KB

english, 1996

37

Mouse liver PMP70 and ALDP: homomeric interactions prevail in vivo

Carla P. Guimarães, Pedro Domingues, Patrick Aubourg, Françoise Fouquet, Aurora Pujol, Gerardo Jimenez-Sanchez, Clara Sá-Miranda, Jorge E. Azevedo

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2004

Language:

english

File:

PDF, 257 KB

english, 2004

38

Invisible mycosis fungoides: A diagnostic challenge

Ramon M. Pujol, Fernando Gallardo, Enric Llistosella, Aurora Blanco, Lluís Bernadób, Ramon Bordes, Josep F. Nomdedeu, Octavio Servitje

Journal:

Journal of the American Academy of Dermatology

Year:

2000

Language:

english

File:

PDF, 165 KB

english, 2000

39

Mitochondrial dysfunction and oxidative damage cooperatively fuel axonal degeneration in X-linked adrenoleukodystrophy

Fourcade, Stéphane, López-Erauskin, Jone, Ruiz, Montserrat, Ferrer, Isidre, Pujol, Aurora

Journal:

Year:

2014

Language:

english

File:

PDF, 722 KB

english, 2014

40

Oxidative stress underlying axonal degeneration in adrenoleukodystrophy: A paradigm for multifactorial neurodegenerative diseases?

Elena Galea, Nathalie Launay, Manuel Portero-Otin, Montserrat Ruiz, Reinald Pamplona, Patrick Aubourg, Isidre Ferrer, Aurora Pujol

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2012

Language:

english

File:

PDF, 696 KB

english, 2012

41

De novo Loss of function Mutations in KIAA2022 Are Associated with Epilepsy and Neurodevelopmental Delay in Females

Webster, Rachel, Cho, Megan T., Retterer, Kyle, Millan, Francisca, Nowak, Catherine, Douglas, Jessica, Ahmad, Ayesha, Raymond, Gerald V., Johnson, Maria R., Pujol, Aurora, Begtrup, Amber, McKnight, Di

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 1.13 MB

english, 2016

42

Foreword

Isidro Ferrer, Aurora Pujol

Journal:

Brain Pathology

Year:

2010

Language:

english

File:

PDF, 45 KB

english, 2010

43

Oxidative stress, mitochondrial and proteostasis malfunction in adrenoleukodystrophy: A paradigm for axonal degeneration

Fourcade, Stéphane, Ferrer, Isidre, Pujol, Aurora

Journal:

Free Radical Biology and Medicine

Year:

2015

Language:

english

File:

PDF, 764 KB

english, 2015

44

Lipid alterations in human frontal cortex in ALSâFTLDâTDP43 proteinopathy spectrum are partly related to peroxisome impairment

AndrÃ©sâBenito, Pol, Gelpi, Ellen, JovÃ©, Mariona, MotaâMartorell, Natalia, Obis, Ãlia, PorteroâOtin, Manuel, Povedano, MÃ²nica, Pujol, Aurora, Pamplona, Reinald, Ferrer, Isidro

Journal:

Neuropathology and Applied Neurobiology

Year:

2020

File:

PDF, 22.96 MB

2020

45

Characterization of the Adrenoleukodystrophy-Related (ALDR, ABCD2) Gene Promoter: Inductibility by Retinoic Acid and Forskolin

Aurora Pujol, Nathalie Troffer-Charlier, Elisabeth Metzger, Giovanna Chimini, Jean-Louis Mandel

Journal:

Year:

2000

Language:

english

File:

PDF, 254 KB

english, 2000

46

Glutathione imbalance in patients with X-linked adrenoleukodystrophy

Petrillo, Sara, Piemonte, Fiorella, Pastore, Anna, Tozzi, Giulia, Aiello, Chiara, Pujol, Aurora, Cappa, Marco, Bertini, Enrico

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 386 KB

english, 2013

47

Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation

Engelen, Marc, Schackmann, Martin J. A., Ofman, Rob, Sanders, Robert-Jan, Dijkstra, Inge M. E., Houten, Sander M., Fourcade, Stéphane, Pujol, Aurora, Poll-The, Bwee Tien, Wanders, Ronald J. A., Kemp,

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 724 KB

english, 2012

48

Screening for FXTAS in 95 Spanish Patients Negative for Huntington Disease

Rodriguez-Revenga, Laia, Santos, M. Mònica, Sánchez, Aurora, Pujol, Montserrat, Gómez-Anson, Beatriz, Badenas, Celia, Jiménez, Dolores, Madrigal, Irene, Milà, Montserrat

Journal:

Genetic Testing

Year:

2008

Language:

english

File:

PDF, 84 KB

english, 2008

49

JNK/ERK/FAK Mediate Promigratory Actions of Basic Fibroblast Growth Factor in Astrocytes via CCL2 and COX2

Lichtenstein, Mathieu P., Madrigal, José L.M., Pujol, Aurora, Galea, Elena

Journal:

Year:

2012

Language:

english

File:

PDF, 1.26 MB

english, 2012

50

Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy

Launay, Nathalie, Ruiz, Montserrat, Grau, Laia, Ortega, Francisco J., Ilieva, Ekaterina V., Martínez, Juan José, Galea, Elena, Ferrer, Isidre, Knecht, Erwin, Pujol, Aurora, Fourcade, Stéphane

Journal:

Acta Neuropathologica

Year:

2017

Language:

english

File:

PDF, 8.92 MB

english, 2017

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