Publications
To see all Baloh Lab publications, please click here.
Below are selected publications with links to the PDF of the article.
- 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. Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology. 2012 Mar 28. (PDF)
- Misko AL, Sasaki Y, Tuck E, Milbrandt J, Baloh RH. Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration. J Neurosci. 2012 Mar 21;32(12):4145-55. (PDF)
- Harms MB, Sommerville RB, Allred P, Bell S, Ma D, Cooper P, Lopate G, Pestronk A, Weihl CC, Baloh RH. Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. Ann Neurol. 2012 Mar;71(3):407-16. doi: 10.1002/ana.22683. Epub 2012 Feb 14. (PDF)
- Baloh RH. TDP-43: the relationship between protein aggregation and neurodegeneration in amyotrophic lateral sclerosis and frontotemporal lobar degeneration. FEBS J. 2011 Jul 21 Epub. (PDF)
- Udan M, Baloh RH. Implications of the prion-related Q/N domains in TDP-43 and FUS. Prion 2011 Jan 1;5(1). (PDF)
- Wegorzewska I, Baloh RH. TDP-43-Based Animal Models of Neurodegeneration: New Insights into ALS Pathology and Pathophysiology. Neurodegener Dis 2010 Dec 3 Epub. (PDF)
- Harms MB, Allred P, Gardner R, Fernandes JAF, Florence J, Pestronk A, Al-Lozi M, and Baloh RH. Dominant spinal muscular atrophy with lower extremity predominance: Linkage to 14q32. Neurology 2010 75: 539-546. (PDF)
- Fuentealba R, Udan M, Bell S, Wegorzewska I, Shao J, Diamond MI, Weihl CC, Baloh RH. Interaction with polyglutamine aggregates reveals a Q/N rich domain in TDP-43. J Biol Chem 2010 June 16 Epub. (PDF)
- Misko A, Jiang S, Wegorzewska I, Milbrandt J, Baloh RH. Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the miro/milton complex. J Neurosci. 2010 Mar 24;30(12):4232-40. (PDF)
- Wegorzewska I, Bell S, Cairns NJ, Miller TM, Baloh RH. TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration. Proc Natl Acad Sci. 2009 Nov 3;106(44):18809-14. Oct 15 Epub. (PDF)
- Baloh RH, Strickland A, Ryu E, Le N, Fahrner T, Yang M, Nagarajan R, Milbrandt J. Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation. J Neurosci. 2009 Feb 25;29(8):2312-21. (PDF)
- 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. TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol. 2008 Apr;63(4):535-8. (PDF)
- Baloh RH. Mitochondrial dynamics and peripheral neuropathy. Neuroscientist. 2008; Feb;14(1):12-8. (PDF)
- Baloh RH, Salavaggione E, Milbrandt J, Pestronk A. Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. Arch Neurol. 2007; Jul;64(7):998-1000. (PDF)
- Baloh RH, Rakowicz W, Gardner R, Pestronk A. Frequent atrophic groups with mixed-type myofibers is distinctive to motor neuron syndromes. Muscle Nerve. 2007; Jul;36(1):107-10 (Link to PubMed)
- Baloh RH, Schmidt RE, Pestronk A, Milbrandt J. Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations. J Neurosci. 2007; Jan 10;27(2):422-30 (Link to PubMed)
- Tansey MG, Baloh RH, Milbrandt J, Johnson EM Jr. GFRalpha-mediated localization of RET to lipid rafts is required for effective downstream signaling, differentiation, and neuronal survival. Neuron. 2000; Mar;25(3):611-23 (Link to PubMed)
- Baloh RH, Enomoto H, Johnson EM Jr, Milbrandt J. The GDNF family ligands and receptors - implications for neural development. Curr Opin Neurobiol. 2000; Feb;10(1):103-10. Review. (Link to PubMed)
