See a current PubMed list of publications from Robert Baloh, MD, PhD.

Selected Key Publications

Udan-Johns M, Bengoechea R, Bell S, Shao J, Diamond MI, True HL, Weihl CC, Baloh RH. Prion-like nuclear aggregation of TDP-43 during heat shock is regulated by HSP40/70 chaperones. [Epub ahead of print Aug 19, 2013.] Hum Mol Genet. 2014 Jan 1;23(1):157–170. doi:10.1093/hmg/ddt408.

Harms MB, Baloh RH. Clinical neurogenetics: amyotrophic lateral sclerosis. Neurol Clin. 2013 Nov;31(4):929–950. doi:10.1016/j.ncl.2013.05.003.
Sareen D, O'Rourke JG, Meera P, Muhammad AK, Grant S, Simpkinson M, Bell S, Carmona S, Ornelas L, Sahabian A, Gendron T, Petrucelli L, Baughn M, Ravits J, Harms MB, Rigo F, Bennett CF, Otis TS, Svendsen CN, Baloh RH. Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion. Sci Transl Med. 2013 Oct 23;5(208):208ra149. doi:10.1126/scitranslmed.3007529.

Harms MB, Cady J, Zaidman C, Cooper P, Bali T, Allred P, Cruchaga C, Baughn M, Libby RT, Pestronk A, Goate A, Ravits J, Baloh RH. Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis. [Epub ahead of print Apr 16, 2013.] Neurobiol Aging. 2013 Sep;34(9):2234.e13–19[sc1]  . doi:10.1016/j.neurobiolaging.2013.03.006.

Baloh RH. How do the RNA-binding proteins TDP-43 and FUS relate to amyotrophic lateral sclerosis and frontotemporal degeneration, and to each other? Curr Opin Neurol. 2012 Dec;25(6):701–707. doi:10.1097/WCO.0b013e32835a269b.

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)

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