Publications

Click here for a complete list of Robert Baloh, MD, PhD publications.


Selected Key Publications

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.

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.

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.

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.