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263 results

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Page 1
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.
Benkirane M, Bonhomme M, Morsy H, Safgren SL, Marelli C, Chaussenot A, Smedley D, Cipriani V, de Sainte-Agathe JM, Ding C, Larrieu L, Vestito L, Margot H, Lesca G, Ramond F, Castrioto A, Baux D, Verheijen J, Sansa E, Giunti P, Haetty A, Bergougnoux A, Pointaux M, Ardouin O, Van Goethem C, Vincent MC, Hadjivassiliou M, Cossée M, Rouaud T, Bartsch O, Freeman WD, Wierenga KJ, Klee EW; Genomic England Research Consortium; Vandrovcova J, Houlden H, Debant A, Koenig M. Benkirane M, et al. Among authors: freeman wd. Brain. 2024 Jun 17:awae193. doi: 10.1093/brain/awae193. Online ahead of print. Brain. 2024. PMID: 38884572
PCNT point mutations and familial intracranial aneurysms.
Lorenzo-Betancor O, Blackburn PR, Edwards E, Vázquez-do-Campo R, Klee EW, Labbé C, Hodges K, Glover P, Sigafoos AN, Soto AI, Walton RL, Doxsey S, Bober MB, Jennings S, Clark KJ, Asmann Y, Miller D, Freeman WD, Meschia J, Ross OA. Lorenzo-Betancor O, et al. Among authors: freeman wd. Neurology. 2018 Dec 4;91(23):e2170-e2181. doi: 10.1212/WNL.0000000000006614. Epub 2018 Nov 9. Neurology. 2018. PMID: 30413633 Free PMC article.
X-Linked Lymphoproliferative Syndrome Presenting as Adult-Onset Multi-Infarct Dementia.
Blackburn PR, Lin WL, Miller DA, Lorenzo-Betancor O, Edwards ES, Zimmermann MT, Farrugia LP, Freeman WD, Soto AI, Walton RL, Klee EW, Atwal PS, Abraham RS, Billadeau DD, Ross OA, Dickson DW, Meschia JF. Blackburn PR, et al. Among authors: freeman wd. J Neuropathol Exp Neurol. 2019 May 1;78(5):460-466. doi: 10.1093/jnen/nlz018. J Neuropathol Exp Neurol. 2019. PMID: 30990878 Free PMC article.
Ischemic stroke after use of the synthetic marijuana "spice".
Freeman WD, Louh IK, Gooch CL, Freeman MJ, Rose DZ, Burgin WS. Freeman WD, et al. Among authors: freeman mj. Neurology. 2014 Aug 19;83(8):772-3. doi: 10.1212/01.wnl.0000453555.25241.99. Neurology. 2014. PMID: 25135913 No abstract available.
Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3.
Prudencio M, Garcia-Moreno H, Jansen-West KR, Al-Shaikh RH, Gendron TF, Heckman MG, Spiegel MR, Carlomagno Y, Daughrity LM, Song Y, Dunmore JA, Byron N, Oskarsson B, Nicholson KA, Staff NP, Gorcenco S, Puschmann A, Lemos J, Januário C, LeDoux MS, Friedman JH, Polke J, Labrum R, Shakkottai V, McLoughlin HS, Paulson HL, Konno T, Onodera O, Ikeuchi T, Tada M, Kakita A, Fryer JD, Karremo C, Gomes I, Caviness JN, Pittelkow MR, Aasly J, Pfeiffer RF, Veerappan V, Eggenberger ER, Freeman WD, Huang JF, Uitti RJ, Wierenga KJ, Marin Collazo IV, Tipton PW, van Gerpen JA, van Blitterswijk M, Bu G, Wszolek ZK, Giunti P, Petrucelli L. Prudencio M, et al. Among authors: freeman wd. Sci Transl Med. 2020 Oct 21;12(566):eabb7086. doi: 10.1126/scitranslmed.abb7086. Sci Transl Med. 2020. PMID: 33087504 Free PMC article.
Leflunomide-associated progressive multifocal leukoencephalopathy.
Rahmlow M, Shuster EA, Dominik J, Deen HG Jr, Dickson DW, Aksamit AJ Jr, Robles HA, Freeman WD. Rahmlow M, et al. Among authors: freeman wd. Arch Neurol. 2008 Nov;65(11):1538-9. doi: 10.1001/archneur.65.11.1538. Arch Neurol. 2008. PMID: 19001176 No abstract available.
263 results