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Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.
Harms MB, Ori-McKenney KM, Scoto M, Tuck EP, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly MM, Miller LJ, Jani-Acsadi A, Pestronk A, Shy ME, Muntoni F, Vallee RB, Baloh RH. Harms MB, et al. Among authors: reilly mm. Neurology. 2012 May 29;78(22):1714-20. doi: 10.1212/WNL.0b013e3182556c05. Epub 2012 Mar 28. Neurology. 2012. PMID: 22459677 Free PMC article.
Diagnosis and new treatments in genetic neuropathies.
Reilly MM, Shy ME. Reilly MM, et al. J Neurol Neurosurg Psychiatry. 2009 Dec;80(12):1304-14. doi: 10.1136/jnnp.2008.158295. J Neurol Neurosurg Psychiatry. 2009. PMID: 19917815 Review.
MFN2 mutations cause severe phenotypes in most patients with CMT2A.
Feely SM, Laura M, Siskind CE, Sottile S, Davis M, Gibbons VS, Reilly MM, Shy ME. Feely SM, et al. Among authors: reilly mm. Neurology. 2011 May 17;76(20):1690-6. doi: 10.1212/WNL.0b013e31821a441e. Epub 2011 Apr 20. Neurology. 2011. PMID: 21508331 Free PMC article.
CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.
Fridman V, Bundy B, Reilly MM, Pareyson D, Bacon C, Burns J, Day J, Feely S, Finkel RS, Grider T, Kirk CA, Herrmann DN, Laurá M, Li J, Lloyd T, Sumner CJ, Muntoni F, Piscosquito G, Ramchandren S, Shy R, Siskind CE, Yum SW, Moroni I, Pagliano E, Zuchner S, Scherer SS, Shy ME; Inherited Neuropathies Consortium. Fridman V, et al. Among authors: reilly mm. J Neurol Neurosurg Psychiatry. 2015 Aug;86(8):873-8. doi: 10.1136/jnnp-2014-308826. Epub 2014 Nov 27. J Neurol Neurosurg Psychiatry. 2015. PMID: 25430934 Free PMC article.
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.
Davidson G, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn M, Manji H, Davis M, Houlden H, Reilly M. Davidson G, et al. J Neurol. 2012 Aug;259(8):1673-85. doi: 10.1007/s00415-011-6397-y. J Neurol. 2012. PMID: 22302274 Free PMC article.
A study of the neuropathy associated with transthyretin amyloidosis (ATTR) in the UK.
Carr AS, Pelayo-Negro AL, Evans MR, Laurà M, Blake J, Stancanelli C, Iodice V, Wechalekar AD, Whelan CJ, Gillmore JD, Hawkins PN, Reilly MM. Carr AS, et al. Among authors: reilly mm. J Neurol Neurosurg Psychiatry. 2016 Jun;87(6):620-7. doi: 10.1136/jnnp-2015-310907. Epub 2015 Aug 4. J Neurol Neurosurg Psychiatry. 2016. PMID: 26243339
419 results