Neurometabolic Diseases Lab

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1 Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study. 8
2 A novel mutation in the GFAP gene expands the phenotype of Alexander disease. 4
3 FAHN/SPG35: a narrow phenotypic spectrum across disease classifications. 5
4 Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy. 48
5 Aberrant regulation of the GSK-3β/NRF2 axis unveils a novel therapy for adrenoleukodystrophy. 67
6 SIRT2 in age-related neurodegenerative disorders 53
7 Inhibition of Gsk3b Reduces Nfkb1 Signaling and Rescues Synaptic Activity to Improve the Rett Syndrome Phenotype in Mecp2-Knockout Mice 219
8 Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia 95
9 Epigenomic signature of adrenoleukodystrophy predicts compromised oligodendrocyte differentiation 112
10 Evaluation of afferent pain pathways in adrenomyeloneuropathic patients 162
11 Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder 162
12 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability 182
13 Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus-Merzbacher disease 286
14 Loss of SIRT2 leads to axonal degeneration and locomotor disability associated with redox and energy imbalance 149
15 Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes 137
16 Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy 223
17 Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis 176
18 A view on clinical genetics and genomics in Spain: of challenges and opportunities. Mol Genet Genomic Med. 2016 Jul 252
19 De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females. Clin Genet. 2016 Aug 307
20 Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families. Neurology. 2016 Jul 354
 
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