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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
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14 |
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2 |
Epigenomic signature of adrenoleukodystrophy predicts compromised oligodendrocyte differentiation
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14 |
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3 |
Evaluation of afferent pain pathways in adrenomyeloneuropathic patients
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84 |
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4 |
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder
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80 |
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5 |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
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76 |
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6 |
Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus-Merzbacher disease
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80 |
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7 |
Loss of SIRT2 leads to axonal degeneration and locomotor disability associated with redox and energy imbalance
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73 |
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8 |
Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes
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72 |
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9 |
Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy
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148 |
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10 |
Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis
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108 |
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11 |
A view on clinical genetics and genomics in Spain: of challenges and opportunities. Mol Genet Genomic Med. 2016 Jul
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190 |
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12 |
De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females. Clin Genet. 2016 Aug
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245 |
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13 |
Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families. Neurology. 2016 Jul
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247 |
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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.
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233 |
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15 |
Targeted activation of CREB in reactive astrocytes is neuroprotective in focal acute cortical injury. Glia. 2016 May
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240 |
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16 |
Altered glycolipid and glycerophospholipid signaling drive inflammatory cascades in adrenomyeloneuropathy. Hum Mol Genet. 2015 Sep 14
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349 |
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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
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317 |
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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
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294 |
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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
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295 |
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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
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194 |
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