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Year Number of Results
2012 2
2013 8
2014 5
2015 6
2016 1
2024 0

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19 results

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Page 1
Autophagic vacuolar pathology in desminopathies.
Weihl CC, Iyadurai S, Baloh RH, Pittman SK, Schmidt RE, Lopate G, Pestronk A, Harms MB. Weihl CC, et al. Neuromuscul Disord. 2015 Mar;25(3):199-206. doi: 10.1016/j.nmd.2014.12.002. Epub 2014 Dec 12. Neuromuscul Disord. 2015. PMID: 25557463 Free PMC article.
TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis.
Cady J, Koval ED, Benitez BA, Zaidman C, Jockel-Balsarotti J, Allred P, Baloh RH, Ravits J, Simpson E, Appel SH, Pestronk A, Goate AM, Miller TM, Cruchaga C, Harms MB. Cady J, et al. JAMA Neurol. 2014 Apr;71(4):449-53. doi: 10.1001/jamaneurol.2013.6237. JAMA Neurol. 2014. PMID: 24535663 Free PMC article.
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.
Albulym OM, Kennerson ML, Harms MB, Drew AP, Siddell AH, Auer-Grumbach M, Pestronk A, Connolly A, Baloh RH, Zuchner S, Reddel SW, Nicholson GA. Albulym OM, et al. Ann Neurol. 2016 Mar;79(3):419-27. doi: 10.1002/ana.24575. Epub 2016 Jan 13. Ann Neurol. 2016. PMID: 26659848 Free PMC article.
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia.
Zu T, Liu Y, Bañez-Coronel M, Reid T, Pletnikova O, Lewis J, Miller TM, Harms MB, Falchook AE, Subramony SH, Ostrow LW, Rothstein JD, Troncoso JC, Ranum LP. Zu T, et al. Proc Natl Acad Sci U S A. 2013 Dec 17;110(51):E4968-77. doi: 10.1073/pnas.1315438110. Epub 2013 Nov 18. Proc Natl Acad Sci U S A. 2013. PMID: 24248382 Free PMC article. Clinical Trial.
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.
Strickland AV, Schabhüttl M, Offenbacher H, Synofzik M, Hauser NS, Brunner-Krainz M, Gruber-Sedlmayr U, Moore SA, Windhager R, Bender B, Harms M, Klebe S, Young P, Kennerson M, Garcia AS, Gonzalez MA, Züchner S, Schule R, Shy ME, Auer-Grumbach M. Strickland AV, et al. J Neurol. 2015 Sep;262(9):2124-34. doi: 10.1007/s00415-015-7727-2. Epub 2015 Jun 24. J Neurol. 2015. PMID: 26100331 Free PMC article.
Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.
Scoto M, Rossor AM, Harms MB, Cirak S, Calissano M, Robb S, Manzur AY, Martínez Arroyo A, Rodriguez Sanz A, Mansour S, Fallon P, Hadjikoumi I, Klein A, Yang M, De Visser M, Overweg-Plandsoen WC, Baas F, Taylor JP, Benatar M, Connolly AM, Al-Lozi MT, Nixon J, de Goede CG, Foley AR, Mcwilliam C, Pitt M, Sewry C, Phadke R, Hafezparast M, Chong WK, Mercuri E, Baloh RH, Reilly MM, Muntoni F. Scoto M, et al. Neurology. 2015 Feb 17;84(7):668-79. doi: 10.1212/WNL.0000000000001269. Epub 2015 Jan 21. Neurology. 2015. PMID: 25609763 Free PMC article.
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