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Biology / D-bifunctional protein deficiency / HSD17B4 / 3-hydroxyacyl-CoA dehydrogenase / Medical genetics / Ataxia / Mitochondrial disease / Peroxisomal disorders / Medicine / Health


The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro
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Massachusetts General Hospital / Howard Hughes Medical Institute / Institute of Harvard / University of Washington / /

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deletion site / resonance imaging / cleavage site / disease gene products / computational algorithm / sterol carrier protein / online submission / /

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Mendelian disorders / primary hyperoxaluria / TB / JE / early-onset neurological disorder / seizures / DBP deficiency / mild dysarthria / dysfunction / ataxia genes / Mitochondrial disorders / Gonadal dysgenesis / moderate gait ataxia / peripheral neuropathy / polyneuropathy / D-bifunctional protein deficiency / ataxia and mitochondrial disease / sensorineural hearing loss / Progressive ataxia / Perrault syndrome / disorder / male infertility / suspected mitochondrial disorders / severe disorder / prostate cancer / MS / hearing loss / mild respiratory chain deficiency / severe / infantile-onset disorder / ataxia / Turner syndrome / cerebellar ataxia / infertility / lower extremity dysmetria / mitochondrial and peroxisomal disorders / deaf-mutism / sensorineural deafness / I deficiency / gait disorder / disease / premature ovarian failure / pes cavus / progressive / cerebellar ataxia / Mitochondrial disease / Multi-system disorders / cognitive impairment / HSD17B4 deficiency / peroxisomal disease X-linked adrenoleukodystrophy / malespecific sterility / mitochondrial disorder / hammer toes / documented azoospermia / dehydrogenase deficiency / neonatal hypotonia / deficiency / Such disorders / azoospermia / syndrome / disorders / /

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Geraghty MT / /

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Harvard Medical School / 6Ataxia Unit / National Institute of Health / 4Broad Institute / National Science Foundation / Laboratory for Neuroanatomy and Cerebellar Neurobiology / MIT / Harvard / Marriott Mitochondrial Disorders Clinical Research Fund / Massachusetts General Hospital / Department of Neurology / U.S. Securities and Exchange Commission / Ataxia Unit / SGH / Cognitive Behavioral Neurology Unit / Department of Systems Biology / Department of Molecular Biology / African Union / University of Washington / Seattle / Department of Defense / Howard Hughes Medical Institute / DSL / Partners Human Research Committee / /

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Ann Neurol / Vamsi K Mootha / Davis JR / Van Veldhoven / Jeremy D Schmahmann / /

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author / King / Adam MP / /

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estradiol / Testosterone / peroxisomal fatty acid catabolism / mitochondrial oxidative phosphorylation / /

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Massachusetts / /

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Molecular Biology / /

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Adam / cloning / genotyping / DSL / MRI / Study protocols / Magnetic resonance imaging / genotype / computational algorithm / /

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www.biomedcentral.com/submit / http /

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