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C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease.
Harms M, Benitez BA, Cairns N, Cooper B, Cooper P, Mayo K, Carrell D, Faber K, Williamson J, Bird T, Diaz-Arrastia R, Foroud TM, Boeve BF, Graff-Radford NR, Mayeux R, Chakraverty S, Goate AM, Cruchaga C; NIA-LOAD/NCRAD Family Study Consortium. Harms M, et al. JAMA Neurol. 2013 Jun;70(6):736-41. doi: 10.1001/2013.jamaneurol.537. JAMA Neurol. 2013. PMID: 23588422 Free PMC article.
A missense variant in SLC39A8 is associated with severe idiopathic scoliosis.
Haller G, McCall K, Jenkitkasemwong S, Sadler B, Antunes L, Nikolov M, Whittle J, Upshaw Z, Shin J, Baschal E, Cruchaga C, Harms M, Raggio C, Morcuende JA, Giampietro P, Miller NH, Wise C, Gray RS, Solnica-Krezel L, Knutson M, Dobbs MB, Gurnett CA. Haller G, et al. Among authors: harms m. Nat Commun. 2018 Oct 9;9(1):4171. doi: 10.1038/s41467-018-06705-0. Nat Commun. 2018. PMID: 30301978 Free PMC article.
Rare and de novo coding variants in chromodomain genes in Chiari I malformation.
Sadler B, Wilborn J, Antunes L, Kuensting T, Hale AT, Gannon SR, McCall K, Cruchaga C, Harms M, Voisin N, Reymond A, Cappuccio G, Brunetti-Pierri N, Tartaglia M, Niceta M, Leoni C, Zampino G, Ashley-Koch A, Urbizu A, Garrett ME, Soldano K, Macaya A, Conrad D, Strahle J, Dobbs MB, Turner TN, Shannon CN, Brockmeyer D, Limbrick DD, Gurnett CA, Haller G. Sadler B, et al. Among authors: harms m. Am J Hum Genet. 2021 Jan 7;108(1):100-114. doi: 10.1016/j.ajhg.2020.12.001. Epub 2020 Dec 21. Am J Hum Genet. 2021. PMID: 33352116 Free PMC article.
Rare and de novo coding variants in chromodomain genes in Chiari I malformation.
Sadler B, Wilborn J, Antunes L, Kuensting T, Hale AT, Gannon SR, McCall K, Cruchaga C, Harms M, Voisin N, Reymond A, Cappuccio G, Brunetti-Pierri N, Tartaglia M, Niceta M, Leoni C, Zampino G, Ashley-Koch A, Urbizu A, Garrett ME, Soldano K, Macaya A, Conrad D, Strahle J, Dobbs MB, Turner TN, Shannon CN, Brockmeyer D, Limbrick DD, Gurnett CA, Haller G. Sadler B, et al. Among authors: harms m. Am J Hum Genet. 2021 Feb 4;108(2):368. doi: 10.1016/j.ajhg.2020.12.015. Am J Hum Genet. 2021. PMID: 33545031 Free PMC article. No abstract available.
Rare and de novo coding variants in chromodomain genes in Chiari I malformation.
Sadler B, Wilborn J, Antunes L, Kuensting T, Hale AT, Gannon SR, McCall K, Cruchaga C, Harms M, Voisin N, Reymond A, Cappuccio G, Brunetti-Pierri N, Tartaglia M, Niceta M, Leoni C, Zampino G, Ashley-Koch A, Urbizu A, Garrett ME, Soldano K, Macaya A, Conrad D, Strahle J, Dobbs MB, Turner TN, Shannon CN, Brockmeyer D, Limbrick DD, Gurnett CA, Haller G. Sadler B, et al. Among authors: harms m. Am J Hum Genet. 2021 Mar 4;108(3):530-531. doi: 10.1016/j.ajhg.2021.01.014. Am J Hum Genet. 2021. PMID: 33667397 Free PMC article. No abstract available.
LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues.
Chardon JW, Smith AC, Woulfe J, Pena E, Rakhra K, Dennie C, Beaulieu C, Huang L, Schwartzentruber J, Hawkins C, Harms MB, Dojeiji S, Zhang M; FORGE Canada Consortium; Majewski J, Bulman DE, Boycott KM, Dyment DA. Chardon JW, et al. Among authors: harms mb. Clin Genet. 2015 Dec;88(6):558-64. doi: 10.1111/cge.12561. Epub 2015 Feb 26. Clin Genet. 2015. PMID: 25589244
Prospective natural history study of C9orf72 ALS clinical characteristics and biomarkers.
Cammack AJ, Atassi N, Hyman T, van den Berg LH, Harms M, Baloh RH, Brown RH, van Es MA, Veldink JH, de Vries BS, Rothstein JD, Drain C, Jockel-Balsarotti J, Malcolm A, Boodram S, Salter A, Wightman N, Yu H, Sherman AV, Esparza TJ, McKenna-Yasek D, Owegi MA, Douthwright C; Alzheimer's Disease Neuroimaging Initiative; McCampbell A, Ferguson T, Cruchaga C, Cudkowicz M, Miller TM. Cammack AJ, et al. Among authors: harms m. Neurology. 2019 Oct 22;93(17):e1605-e1617. doi: 10.1212/WNL.0000000000008359. Epub 2019 Oct 2. Neurology. 2019. PMID: 31578300 Free PMC article.
645 results