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Antioxidants halt axonal degeneration in a mouse model of X-adrenoleukodystrophy.Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy.Oxidative damage compromises energy metabolism in the axonal degeneration mouse model of X-adrenoleukodystrophy.Pioglitazone halts axonal degeneration in a mouse model of X-linked adrenoleukodystrophyActivation of sirtuin 1 as therapy for the peroxisomal disease adrenoleukodystrophy.Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy.Mitochondrial dysfunction and oxidative damage cooperatively fuel axonal degeneration in X-linked adrenoleukodystrophy.Mitochondrial dysfunction in central nervous system white matter disorders.Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families.A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis.Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy.Oxidative stress regulates the ubiquitin-proteasome system and immunoproteasome functioning in a mouse model of X-adrenoleukodystrophy.Targeted activation of CREB in reactive astrocytes is neuroprotective in focal acute cortical injury.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.Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy.Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophyLong Survival in a Case of Peroxisomal Biogenesis Disorder with Peroxisome Mosaicism in the LiverReply to: "Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion"Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism
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description
hulumtuese
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հետազոտող
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Montserrat Ruiz
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Montserrat Ruiz
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Montserrat Ruiz
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Montserrat Ruiz
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Montserrat Ruiz
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Montserrat Ruiz
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Montserrat Ruiz
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Montserrat Ruiz
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Montserrat Ruiz
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Montserrat Ruiz
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Montse Ruiz
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Montserrat Ruiz
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Montserrat Ruiz
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Montserrat Ruiz
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Montserrat Ruiz
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Montserrat Ruiz
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Montserrat Ruiz
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P1053
N-4085-2014
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8501573200
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0000-0003-0466-2653
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2000-01-01T00:00:00Z