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Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy.
Lewis-Smith DJ, Duff J, Pyle A, Griffin H, Polvikoski T, Birchall D, Horvath R, Chinnery PF. Lewis-Smith DJ, et al. Among authors: birchall d. Neurol Genet. 2016 Oct 31;2(6):e110. doi: 10.1212/NXG.0000000000000110. eCollection 2016 Dec. Neurol Genet. 2016. PMID: 27830184 Free PMC article.
Early Surgery versus Initial Conservative Treatment in Patients with Traumatic Intracerebral Hemorrhage (STITCH[Trauma]): The First Randomized Trial.
Mendelow AD, Gregson BA, Rowan EN, Francis R, McColl E, McNamee P, Chambers IR, Unterberg A, Boyers D, Mitchell PM; STITCH(Trauma) Investigators. Mendelow AD, et al. J Neurotrauma. 2015 Sep 1;32(17):1312-23. doi: 10.1089/neu.2014.3644. Epub 2015 May 21. J Neurotrauma. 2015. PMID: 25738794 Free PMC article. Clinical Trial.
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.
Boczonadi V, Müller JS, Pyle A, Munkley J, Dor T, Quartararo J, Ferrero I, Karcagi V, Giunta M, Polvikoski T, Birchall D, Princzinger A, Cinnamon Y, Lützkendorf S, Piko H, Reza M, Florez L, Santibanez-Koref M, Griffin H, Schuelke M, Elpeleg O, Kalaydjieva L, Lochmüller H, Elliott DJ, Chinnery PF, Edvardson S, Horvath R. Boczonadi V, et al. Among authors: birchall d. Nat Commun. 2014 Jul 3;5:4287. doi: 10.1038/ncomms5287. Nat Commun. 2014. PMID: 24989451 Free PMC article.
Outcome after conservative management or intervention for unruptured brain arteriovenous malformations.
Al-Shahi Salman R, White PM, Counsell CE, du Plessis J, van Beijnum J, Josephson CB, Wilkinson T, Wedderburn CJ, Chandy Z, St George EJ, Sellar RJ, Warlow CP; Scottish Audit of Intracranial Vascular Malformations Collaborators. Al-Shahi Salman R, et al. JAMA. 2014 Apr 23-30;311(16):1661-9. doi: 10.1001/jama.2014.3200. JAMA. 2014. PMID: 24756516 Free article.
91 results