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Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle.
Baloh RH, Salavaggione E, Milbrandt J, Pestronk A. Baloh RH, et al. Arch Neurol. 2007 Jul;64(7):998-1000. doi: 10.1001/archneur.64.7.998. Arch Neurol. 2007. PMID: 17620490
Expression of neurturin, GDNF, and their receptors in the adult mouse CNS.
Golden JP, Baloh RH, Kotzbauer PT, Lampe PA, Osborne PA, Milbrandt J, Johnson EM Jr. Golden JP, et al. Among authors: baloh rh. J Comp Neurol. 1998 Aug 17;398(1):139-50. doi: 10.1002/(sici)1096-9861(19980817)398:1<139::aid-cne9>;2-2. J Comp Neurol. 1998. PMID: 9703032
Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene).
Baloh RH, Jen JC, Kim G, Baloh RW. Baloh RH, et al. Among authors: baloh rw. Neurology. 2004 May 25;62(10):1905-6. doi: 10.1212/01.wnl.0000125287.98456.23. Neurology. 2004. PMID: 15159512 No abstract available.
Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations.
Baloh RH, Schmidt RE, Pestronk A, Milbrandt J. Baloh RH, et al. J Neurosci. 2007 Jan 10;27(2):422-30. doi: 10.1523/JNEUROSCI.4798-06.2007. J Neurosci. 2007. PMID: 17215403 Free PMC article.
Mitochondrial dynamics and peripheral neuropathy.
Baloh RH. Baloh RH. Neuroscientist. 2008 Feb;14(1):12-8. doi: 10.1177/1073858407307354. Epub 2007 Oct 2. Neuroscientist. 2008. PMID: 17911220 Review.
TDP-43 A315T mutation in familial motor neuron disease.
Gitcho MA, Baloh RH, Chakraverty S, Mayo K, Norton JB, Levitch D, Hatanpaa KJ, White CL 3rd, Bigio EH, Caselli R, Baker M, Al-Lozi MT, Morris JC, Pestronk A, Rademakers R, Goate AM, Cairns NJ. Gitcho MA, et al. Among authors: baloh rh. Ann Neurol. 2008 Apr;63(4):535-8. doi: 10.1002/ana.21344. Epub 2008 Feb 20. Ann Neurol. 2008. PMID: 18288693 Free PMC article.
TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration.
Wegorzewska I, Bell S, Cairns NJ, Miller TM, Baloh RH. Wegorzewska I, et al. Among authors: baloh rh. Proc Natl Acad Sci U S A. 2009 Nov 3;106(44):18809-14. doi: 10.1073/pnas.0908767106. Epub 2009 Oct 15. Proc Natl Acad Sci U S A. 2009. PMID: 19833869 Free PMC article.
Familial ALS with extreme phenotypic variability due to the I113T SOD1 mutation.
Lopate G, Baloh RH, Al-Lozi MT, Miller TM, Fernandes Filho JA, Ni O, Leston A, Florence J, Schierbecker J, Allred P. Lopate G, et al. Among authors: baloh rh. Amyotroph Lateral Scler. 2010;11(1-2):232-6. doi: 10.3109/17482960902898069. Amyotroph Lateral Scler. 2010. PMID: 20184521
Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32.
Harms MB, Allred P, Gardner R Jr, Fernandes Filho JA, Florence J, Pestronk A, Al-Lozi M, Baloh RH. Harms MB, et al. Among authors: baloh rh. Neurology. 2010 Aug 10;75(6):539-46. doi: 10.1212/WNL.0b013e3181ec800c. Neurology. 2010. PMID: 20697106 Free PMC article.
TDP-43-based animal models of neurodegeneration: new insights into ALS pathology and pathophysiology.
Wegorzewska I, Baloh RH. Wegorzewska I, et al. Among authors: baloh rh. Neurodegener Dis. 2011;8(4):262-74. doi: 10.1159/000321547. Epub 2010 Dec 3. Neurodegener Dis. 2011. PMID: 21124004 Free PMC article. Review.
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