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ResearcherID: N-4085-2014
Scopus Author ID: 8501573200

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Works (48)

RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia

Journal of Clinical Investigation
2023-07-17 | Journal article
DOI: 10.1172/JCI162836
Contributors: Nathalie Launay; Montserrat Ruiz; Laura Planas-Serra; Edgard Verdura; Agustí Rodríguez-Palmero; Agatha Schlüter; Leire Goicoechea; Cristina Guilera; Josefina Casas; Felix Campelo et al.
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Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity

Journal of Clinical Investigation
2023-05-15 | Journal article
DOI: 10.1172/JCI162957
Contributors: Laura Planas-Serra; Nathalie Launay; Leire Goicoechea; Bénédicte Heron; Cristina Jou; Natalia Juliá-Palacios; Montserrat Ruiz; Stéphane Fourcade; Carlos Casasnovas; Carolina De La Torre et al.
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Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective study

eClinicalMedicine
2022-08 | Journal article
DOI: 10.1016/j.eclinm.2022.101515
Contributors: Veronica Davalos; Carlos A. García-Prieto; Gerardo Ferrer; Sergio Aguilera-Albesa; Juan Valencia-Ramos; Agustí Rodríguez-Palmero; Montserrat Ruiz; Laura Planas-Serra; Iolanda Jordan; Iosune Alegría et al.
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Neutralizing Autoantibodies to Type I IFNs in >10% of Patients with Severe COVID-19 Pneumonia Hospitalized in Madrid, Spain

Journal of Clinical Immunology
2021-07-13 | Journal article
DOI: 10.1007/s10875-021-01036-0
Contributors: Jesús Troya; Paul Bastard; Laura Planas-Serra; Pablo Ryan; Montse Ruiz; María de Carranza; Juan Torres; Amalia Martínez; Laurent Abel; Jean-Laurent Casanova et al.
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Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.

Acta neuropathologica
2020-10-05 | Journal article
DOI: 10.1007/s00401-020-02223-w
PMID: 33015733
PMC: PMC7665968
Source: Self-asserted source
Montse Ruiz

A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy

Annals of Clinical and Translational Neurology
2020-09 | Journal article
DOI: 10.1002/acn3.51131
Contributors: Agustí Rodríguez‐Palmero; Agatha Schlüter; Edgard Verdura; Montserrat Ruiz; Juan José Martínez; Isabelle Gourlaouen; Chandran Ka; Ricardo Lobato; Carlos Casasnovas; Gérald Le Gac et al.
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High-dose biotin restores redox balance, energy and lipid homeostasis, and axonal health in a model of adrenoleukodystrophy.

Brain pathology (Zurich, Switzerland)
2020-07-07 | Journal article
DOI: 10.1111/bpa.12869
PMID: 32511826
Source: Self-asserted source
Montse Ruiz

Phenotypic correlations in a large single-center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study.

European journal of neurology
2020-05-24 | Journal article
DOI: 10.1111/ene.14272
PMID: 32320108
Source: Self-asserted source
Montse Ruiz

The peroxisomal fatty acid transporter ABCD1/PMP-4 is required in the C. elegans hypodermis for axonal maintenance: A worm model for adrenoleukodystrophy.

Free radical biology & medicine
2020-02-01 | Journal article
DOI: 10.1016/j.freeradbiomed.2020.01.177
PMID: 32017990
Source: Self-asserted source
Montse Ruiz

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Journal of Clinical Investigation
2019 | Journal article
DOI: 10.1172/JCI123959
WOSUID: WOS:000460125800031
Contributors: Aurora Pujol; Nara Lygia de M. Sobreira; Odile Boespflug-Tanguy; Ali Fatemi; Eric W. Klee; Gholamreza Shariati; Reza Maroofian; Brendan C. Lanpher; Elizabeth Wohler; Filippo Pinto e Vairo et al.
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A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases.

Annals of clinical and translational neurology
2019-12-18 | Journal article
DOI: 10.1002/acn3.50967
PMID: 31854126
PMC: PMC6952318
Source: Self-asserted source
Montse Ruiz

Reply to: "Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion".

Movement disorders : official journal of the Movement Disorder Society
2019-12-01 | Journal article
DOI: 10.1002/mds.27899
PMID: 31845766
Source: Self-asserted source
Montse Ruiz

Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia.

Journal of medical genetics
2019-10-05 | Journal article
DOI: 10.1136/jmedgenet-2019-106373
PMID: 31586945
PMC: PMC7029237
Source: Self-asserted source
Montse Ruiz

Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
2019-10-01 | Journal article
DOI: 10.1007/s13311-019-00735-2
PMID: 31077039
PMC: PMC6985062
Source: Self-asserted source
Montse Ruiz

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

Movement disorders : official journal of the Movement Disorder Society
2019-08-21 | Journal article
DOI: 10.1002/mds.27812
PMID: 31433872
Source: Self-asserted source
Montse Ruiz

A novel mutation in the GFAP gene expands the phenotype of Alexander disease.

Journal of medical genetics
2019-04-19 | Journal article
DOI: 10.1136/jmedgenet-2018-105959
PMID: 31004048
Source: Self-asserted source
Montse Ruiz

Aberrant regulation of the GSK‐3β/NRF2 axis unveils a novel therapy for adrenoleukodystrophy

EMBO Molecular Medicine
2018 | Journal article
DOI: 10.15252/EMMM.201708604
WOSUID: WOS:000440915000002
Contributors: Aurora Pujol; Stéphane Fourcade; M Flint Beal; Isidre Ferrer; Reinald Pamplona; Manuel Portero‐Otín; Alba Naudí; Magali Dumont; Noel Ylagan Calingasan; Montserrat Ruiz et al.
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Epigenomic signature of adrenoleukodystrophy predicts compromised oligodendrocyte differentiation

Brain Pathology
2018 | Journal article
DOI: 10.1111/BPA.12595
Contributors: Aurora Pujol; Manel Esteller; Patrizia Casaccia; Montserrat Ruiz; Angel Díaz-Lagares; Stéphane Fourcade; Juan Sandoval; Agatha Schlüter
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Evaluation of afferent pain pathways in adrenomyeloneuropathic patients

Clinical Neurophysiology
2018 | Journal article
DOI: 10.1016/J.CLINPH.2017.12.011
WOSUID: WOS:000425876800001
Contributors: Aurora Pujol; Josep Valls-Solé; Jordi Pedro; Montserrat Ruiz; Carlos Casasnovas; Misericordia Veciana; Sara Yagüe
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Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus-Merzbacher disease

Brain Pathology
2018 | Journal article
DOI: 10.1111/BPA.12571
WOSUID: WOS:000448640600003
Contributors: Aurora Pujol; Stéphane Fourcade; Odile Boespflug-Tanguy; Céline Guéret-Gonthier; Bérengère Petit; Patrizia Bianchi; Catherine Vaurs-Barriere; Laia Morató; Marie-Noëlle Bonnet-Dupeyron; Johan Auwerx et al.
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Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder

The American Journal of Human Genetics
2017 | Journal article
DOI: 10.1016/J.AJHG.2017.11.007
WOSUID: WOS:000417644500007
Contributors: Hans R. Waterham; Ronald J.A. Wanders; Sacha Ferdinandusse; M. Estela Rubio-Gozalbo; Irene Körver-Keularts; FrancJan van Spronsen; Karin Naess; Martin Engvall; Aurora Pujol; Montserrat Ruiz et al.
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Loss of SIRT2 leads to axonal degeneration and locomotor disability associated with redox and energy imbalance

Aging Cell
2017 | Journal article
DOI: 10.1111/ACEL.12682
WOSUID: WOS:000418387600018
Contributors: Aurora Pujol; Manel Portero-Otín; Reinald Pamplona; Alejandro Vaquero; Francesc Villarroya; Isidre Ferrer; Mara Dierssen; Paloma Martínez-Redondo; Alba Naudí; Mariona Jové et al.
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Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy

Acta Neuropathologica
2017 | Journal article
DOI: 10.1007/s00401-016-1655-9
EID:

2-s2.0-85007022435
Contributors: Launay, N.; Ruiz, M.; Grau, L.; Ortega, F.J.; Ilieva, E.V.; Martínez, J.J.; Galea, E.; Ferrer, I.; Knecht, E.; Pujol, A. et al.
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Montse Ruiz via Scopus - Elsevier
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Targeted activation of CREB in reactive astrocytes is neuroprotective in focal acute cortical injury

GLIA
2016 | Journal article
DOI: 10.1002/glia.22969
EID:

2-s2.0-84959161753
Contributors: Pardo, L.; Schlüter, A.; Valor, L.M.; Barco, A.; Giralt, M.; Golbano, A.; Hidalgo, J.; Jia, P.; Zhao, Z.; Jové, M. et al.
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Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H /SPG35 in 4 families

Neurology
2016 | Journal article
DOI: 10.1212/WNL.0000000000002843
EID:

2-s2.0-84978977396
Contributors: Soehn, A.S.; Rattay, T.W.; Beck-Wödl, S.; Schäferhoff, K.; Monk, D.; Döbler-Neumann, M.; Hörtnagel, K.; Schlüter, A.; Ruiz, M.; Pujol, A. et al.
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Activation of sirtuin 1 as therapy for the peroxisomal disease adrenoleukodystrophy

Cell Death and Differentiation
2015 | Journal article
DOI: 10.1038/cdd.2015.20
EID:

2-s2.0-84943198118
Contributors: Morató, L.; Ruiz, M.; Boada, J.; Calingasan, N.Y.; Galino, J.; Guilera, C.; Jové, M.; Naudí, A.; Ferrer, I.; Pamplona, R. et al.
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Altered glycolipid and glycerophospholipid signaling drive inflammatory cascades in adrenomyeloneuropathy

Human Molecular Genetics
2015 | Journal article
DOI: 10.1093/hmg/ddv375
EID:

2-s2.0-84959254719
Contributors: Ruiz, M.; Jové, M.; Schlüter, A.; Casasnovas, C.; Villarroya, F.; Guilera, C.; Ortega, F.J.; Naudí, A.; Pamplona, R.; Gimeno, R. et al.
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Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy

Acta Neuropathologica
2014 | Journal article
DOI: 10.1007/s00401-014-1378-8
EID:

2-s2.0-84922984849
Contributors: Launay, N.; Aguado, C.; Fourcade, S.; Ruiz, M.; Grau, L.; Riera, J.; Guilera, C.; Giròs, M.; Ferrer, I.; Knecht, E. et al.
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Mitochondrial dysfunction and oxidative damage cooperatively fuel axonal degeneration in X-linked adrenoleukodystrophy

Biochimie
2014 | Journal article
DOI: 10.1016/j.biochi.2013.09.012
EID:

2-s2.0-84895106927
Contributors: Fourcade, S.; López-Erauskin, J.; Ruiz, M.; Ferrer, I.; Pujol, A.
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Mitochondrial dysfunction in central nervous system white matter disorders

GLIA
2014 | Journal article
DOI: 10.1002/glia.22670
EID:

2-s2.0-84912574887
Contributors: Morató, L.; Bertini, E.; Verrigni, D.; Ardissone, A.; Ruiz, M.; Ferrer, I.; Uziel, G.; Pujol, A.
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Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy

Human Molecular Genetics
2013 | Journal article
DOI: 10.1093/hmg/ddt186
EID:

2-s2.0-84881229511
Contributors: López-Erauskin, J.; Galino, J.; Ruiz, M.; Cuezva, J.M.; Fabregat, I.; Cacabelos, D.; Boada, J.; Martínez, J.; Ferrer, I.; Pamplona, R. et al.
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Oxidative stress regulates the ubiquitin-proteasome system and immunoproteasome functioning in a mouse model of X-adrenoleukodystrophy

Brain
2013 | Journal article
DOI: 10.1093/brain/aws370
EID:

2-s2.0-84874903126
Contributors: Launay, N.; Ruiz, M.; Fourcade, S.; Schlüter, A.; Guilera, C.; Ferrer, I.; Knecht, E.; Pujol, A.
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Pioglitazone halts axonal degeneration in a mouse model of X-linked adrenoleukodystrophy

Brain
2013 | Journal article
DOI: 10.1093/brain/awt143
EID:

2-s2.0-84880960883
Contributors: Morató, L.; Galino, J.; Ruiz, M.; Calingasan, N.Y.; Starkov, A.A.; Dumont, M.; Naudí, A.; Martínez, J.J.; Aubourg, P.; Portero-Otín, M. et al.
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Oxidative stress underlying axonal degeneration in adrenoleukodystrophy: A paradigm for multifactorial neurodegenerative diseases?

Biochimica et Biophysica Acta - Molecular Basis of Disease
2012 | Journal article
DOI: 10.1016/j.bbadis.2012.02.005
EID:

2-s2.0-84864032314
Contributors: Galea, E.; Launay, N.; Portero-Otin, M.; Ruiz, M.; Pamplona, R.; Aubourg, P.; Ferrer, I.; Pujol, A.
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Antioxidants halt axonal degeneration in a mouse model of X-adrenoleukodystrophy

Annals of Neurology
2011 | Journal article
DOI: 10.1002/ana.22363
EID:

2-s2.0-79960748014
Contributors: Lõpez-Erauskin, J.; Fourcade, S.; Galino, J.; Ruiz, M.; Schlüter, A.; Naudi, A.; Jove, M.; Portero-Otin, M.; Pamplona, R.; Ferrer, I. et al.
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Oxidative damage compromises energy metabolism in the axonal degeneration mouse model of X-adrenoleukodystrophy

Antioxidants and Redox Signaling
2011 | Journal article
DOI: 10.1089/ars.2010.3877
EID:

2-s2.0-80052595429
Contributors: Galino, J.; Ruiz, M.; Fourcade, S.; Schlüter, A.; López-Erauskin, J.; Guilera, C.; Jove, M.; Naudi, A.; García-Arumí, E.; Andreu, A.L. et al.
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Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy

Human Molecular Genetics
2010 | Journal article
DOI: 10.1093/hmg/ddq082
EID:

2-s2.0-77952508899
Contributors: Fourcade, S.; Ruiz, M.; Guilera, C.; Hahnen, E.; Brichta, L.; Naudi, Alba; Portero-Otín, M.; Dacremont, G.; Cartier, N.; Wanders, R. et al.
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Montse Ruiz via Scopus - Elsevier
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A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis

American Journal of Physiology - Endocrinology and Metabolism
2009 | Journal article
DOI: 10.1152/ajpendo.90736.2008
EID:

2-s2.0-58249098638
Contributors: Fourcade, S.; Ruiz, M.; Camps, C.; Schlüter, A.; Houten, S.M.; Mooyer, P.A.W.; Pàmpols, T.; Dacremont, G.; Wanders, R.J.A.; Giròs, M. et al.
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Montse Ruiz via Scopus - Elsevier
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X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females

Clinical Genetics
2005 | Journal article
DOI: 10.1111/j.1399-0004.2005.00423.x
EID:

2-s2.0-17644384467
Contributors: Coll, M.J.; Palau, N.; Camps, C.; Ruiz, M.; Pàmpols, T.; Girós, M.
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Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: A therapeutic target for X-adrenoleukodystrophy

Human Molecular Genetics
2004 | Journal article
DOI: 10.1093/hmg/ddh323
EID:

2-s2.0-9744221106
Contributors: Pujol, A.; Ferrer, I.; Camps, C.; Metzger, E.; Hindelang, C.; Callizot, N.; Ruiz, M.; Pàmpols, T.; Giròs, M.; Mandel, J.L.
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Modifying the peroxisomes by cell & tissue culture II. Fibroblasts

Advances in Experimental Medicine and Biology
2003 | Book
EID:

2-s2.0-1542329069
Contributors: Giros, M.; Ruiz, M.
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Montse Ruiz via Scopus - Elsevier

[The diagnosis of peroxisomal disorders in Spain during the period 1987-1997].

Revista de Neurologia
1999 | Journal article
WOSUID: MEDLINE:10778487
Contributors: Montse Ruiz
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Diagnosis and Follow-Up of a Case of Peroxisomal Disorder With Peroxisomal Mosaicism

Journal of Child Neurology
1999 | Journal article
DOI: 10.1177/088307389901400705
WOSUID: WOS:000081448900005
Contributors: Teresa Pampols; Ronald J. A. Wanders; Luis Amat; Asunción Aracil; Juan Conill; Carlos Pavia; Marc Espeel; Ann Moser; Montserrat Ruiz; Frank Roels et al.
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The diagnosis of peroxisomal disorders in Spain during the period 1987- 1997 | Diagnostico de las enfermedades peroxisomales en Espana en el periodo 1987-1997

Revista de Neurologia
1999 | Journal article
EID:

2-s2.0-0033395352
Contributors: Girós, M.; Ruiz, M.; Ribes, A.; Pàmpols, T.
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Montse Ruiz via Scopus - Elsevier

X-linked adrenoleukodystrophy: Phenotype distribution and expression of ALDP in Spanish kindreds

American Journal of Medical Genetics
1998 | Journal article
DOI: 10.1002/(SICI)1096-8628(19980413)76:5<424::AID-AJMG11>3.0.CO;2-O
EID:

2-s2.0-0032513549
Contributors: Ruiz, M.; Coll, M.J.; Pàmpols, T.; Girós, M.
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ALDP expression in fetal cells and its application in prenatal diagnosis of X-linked adrenoleukodystrophy
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Glycerol trioleate/glycerol trierucate therapy in X-linked adrenoleukodystrophy: Saturated and unsaturated fatty acids in blood cells. Implications for the follow-up

Journal of Inherited Metabolic Disease
1996 | Journal article
DOI: 10.1007/BF01799426
WOSUID: WOS:A1996UJ35400023
Contributors: M. Girós; T. Pampols; M. Ruiz
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Long survival in a case of peroxisomal biogenesis disorder with peroxisome mosaicism in the liver

Annals of the New York Academy of Sciences
1996 | Book
DOI: 10.1111/j.1749-6632.1996.tb18689.x
EID:

2-s2.0-0030464003
Contributors: Girós, M.; Roels, F.; Prats, J.; Ruiz, M.; Ribes, A.; Espeel, M.; Wanders, R.J.A.; Schutgens, R.B.H.; Pámpols, T.
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