Neurometabolic Diseases Lab

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1 Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia 14
2 Epigenomic signature of adrenoleukodystrophy predicts compromised oligodendrocyte differentiation 14
3 Evaluation of afferent pain pathways in adrenomyeloneuropathic patients 84
4 Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder 80
5 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability 76
6 Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus-Merzbacher disease 80
7 Loss of SIRT2 leads to axonal degeneration and locomotor disability associated with redox and energy imbalance 73
8 Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes 72
9 Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy 148
10 Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis 108
11 A view on clinical genetics and genomics in Spain: of challenges and opportunities. Mol Genet Genomic Med. 2016 Jul 190
12 De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females. Clin Genet. 2016 Aug 245
13 Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families. Neurology. 2016 Jul 247
14 Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Daniel J Klionsky et al. Autophagy Volume 12, Issue 1, 2016. 233
15 Targeted activation of CREB in reactive astrocytes is neuroprotective in focal acute cortical injury. Glia. 2016 May 240
16 Altered glycolipid and glycerophospholipid signaling drive inflammatory cascades in adrenomyeloneuropathy. Hum Mol Genet. 2015 Sep 14 349
17 Oxidative stress, mitochondrial and proteostasis malfunction in adrenoleukodystrophy: A paradigm for axonal degeneration. Free Radic Biol Med. 2015 Jun 12. pii: S0891-5849(15)00264-6 317
18 Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities. Mol Genet Metab 294
19 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. Biochim Biophys Acta. 2015 May;1852(5):92 295
20 Neuroinflammatory signals in Alzheimer disease and APP/PS1 transgenic mice: correlations with plaques, tangles, and oligomeric species. Journal of Neuropathology and Experimental Neurology. 2015 Apr 194
 
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