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Eleanor Thomas

As seen in: Wiley Online Library, The American Journal of Human Genetics, Southeast Iowa Union

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Articles

Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia

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By James Fasham, Julia Rankin, Rachel Schot, Susan White, Katrina Bell, Matthew N. Wakeling, Alex Shah, David Francis, Emily Jones, Kayal Vijayakumar, Katie Johnson, Paola Giunti, Marios Hadjivassiliou, Andrea Nemeth, Andrea H Németh, George K. Tofaris, Carlo Rinaldi, Nishanka Ubeyratna, Frank Sleutels, Tahsin Stefan Barakat, Timothy Hall, Alan Whone, Eleanor Thomas, Joseph Leslie, Rosemary A. Bamford, Aaron R Jeffries, Jenny Lord, Susan Walker, Sue Hill, Lucy McGavin, Andrew Parrish, Andrew Crosby, Emma L. Baple, Alistair T. Pagnamenta, Lucy J. Mallin, Maie Walsh, Francis H. Sansbury, Benito Banos-Pinero, Marianna Selikhva, Anneke Kievit, Joey van Giessen
| The American Journal of Human Genetics Verified
Keywords cerebellar hypoplasia duplication-triplication CNV ataxia structural variant ATP6V0C inversion gene dosage Main text Childhood-onset neurodegenerative disorders comprise a heterogeneous group of rare conditions that present with progressive neurological and/or cognitive impairment.1 Features can include regression of motor or cognitive skills, seizures, behavioral changes, ataxia, spasticity, sensory deficits, and intellectual disability.
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Mt. Pleasant Duplicate Bridge results for August and September

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By Eleanor Thomas
| Southeast Iowa Union Verified
Southeast Iowa Union offers audio versions of articles using Instaread. Some words may be mispronounced. Monday, Aug. 4- 9:30 a.m. Game First — Lea Bradley & Bonnie Kremer Second — Tim Korb & Steven Rod Thursday, Aug. 7 — 12:30 p.m. Game First — James Graves & Daniel Walker Second — Amy Cox & Randolph Wischnmeier Monday, Aug. 11 — 9:30 a.m. Game First — Kathy & Scan Meyer Second — Lois Braun & Charlene Hinrich Monday, Aug.
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ALS plasma biomarkers reveal neurofilament and pTau correlate with disease onset and progression

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By Eleanor Thomas, Woo Jae Kim, Yingjie Li, Seneshaw Asress
| Wiley Online Library Verified
Introduction Plasma-based biomarkers for neurodegenerative diseases, such as ALS, show great promise both in the clinical and research settings.
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