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| http://dx.doi.org/10.4103/ijd.ijd_200_23 | DOI Listing |
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Obesity-associated memory impairment and neuroinflammation precede widespread peripheral perturbations in aged rats.
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Department of Pediatric Rheumatology, Faculty of Medicine, Gazi University, Ankara, Besevler, 06500, Turkey.
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Building a growing genomic repository for maternal and fetal health through the PING Consortium.
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View Article and Find Full Text PDFCerebellar Ataxia, Neuropathy, and Vestibular Areflexia as a Presentation of a Novel DNMT1 Mutation.
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Department of Neurology, Division of Neuro-Visual & Vestibular Disorders, The Johns Hopkins University School of Medicine, Johns Hopkins Hospital, 600 N. Wolfe Street, Baltimore, MD, USA.
A 50-year-old woman with a 20-year history of gait instability presented with new-onset vertigo and oscillopsia. Examination revealed bilateral vestibular loss, cerebellar ataxia, sensory neuropathy, a "yes-yes" head tremor, nystagmus and a family history of a similar syndrome. Genetic testing for cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (RFC1) was negative, but whole exome sequencing identified a novel mutation in the DNA methyltransferase 1 (DNMT1) gene, broadening the differential diagnosis for this phenotype.
View Article and Find Full Text PDFClustering of > 145,000 symptom logs reveals distinct pre, peri, and menopausal phenotypes.
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