Dr. Bernard Brais

Bayat V, Thiffault I, Jaiswal M, Tetreault , Donti T, Sasarman F, Bernard G, Demers-Lamarche J, Dicaire MJ, Mathieu J, Vanasse M, Rioux MF, Lourenco CM, Li Z, Haueter C, Shoubridge E, Graham BH, Brais B, Bellen HJ. Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans. PLoS Biology, March 2012, vol. 10, issue 3.

Thiffaut I, Dicaire MJ, Tetreault M, Huang KN, Demers-Lamarche J, Bernard G, Duquette A, Lariviere R, Gehring K, Montpetit A, McPherson P, Richter A, Mitchell, GA, Dupre N, Prevost C, Bouchard JP, Mathieu J, Brais B. Diversity of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) SACS mutations in French-Canadians. Canadian Journal of Neurological Sciences. Submitted on 2012-01-09.

Girard M, Lariviere R, Parfitt DA, Deane EC, Gaudet R, Nossova N, Blondeau F, Prenosil G, Vermeulen EG, Duchen MR, Richter A, Shoubridge EA, Gehring K, McKinney RA, Brais, B, Chapple JP, McPherson PS. Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Proc Natl Acad Sci USA. 2012 Jan 31;109(5):1661-6.

Tetreault M, Choquet K, Orcesi S, Tonduti D, Blottin U, Teichmann M, Fribourg S, Schiffmann R, Brais B, Vanderver A, Bernard G. Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. Am J Hum Genet. 2011 Nov 11; 89(5):652.5

Tetreault M, Srour M, Allyson J, Thiffault I, Loisel L, Robitaille Y, Bouchard JP, Brais B. Founder mutation for α-sarcoglycan-LGMD2D in a Magdalen Islands Acadian Cluster. Can J Neurol Sci. 2011 Sep;38(5):747-52.

Bernard G, Chouery E, Putorti ML, Tetreault M, Takanohashi A, Carosso G, Clement I, Boespflug-Tanguy O, Rodriguez D, Delague V, Abou Ghoch J, Jalkh N, Dorboz I, Fribourg S, Teichmann M, Mergabane A, Schiffmann R, Vanderver A, Brais B. Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy. Am J Hum Genet. 2011 Sep 9;89(3):415-23.

Kozlov G, Denisov AY, Girard M, Dicaire MJ, McPherson PS, Brais B, Gehring K. Structural basis of defects in sacsin HEPN domain responsible for the spastic ataxia of Charlevoix-Saguenay, Journal of Biological Chemistry. 2011 Jun 10:286(23)20407-12. Epub 2011 Apr 20.

Brais B. Oculopharyngeal Muscular Dystrophy. Handb Clin Neurol. 2011;101:181-92. Review

Bernard G, Thiffault I, Tetreault M, Putorti ML, Bouchard I, Sylvain M, Melancon S, Laframboise R, Langevin P, Bouchard JP, Vanasse M, Vanderver A, Sebire G, Brais B. Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31. Neurogenetics. 2010 Oct;11(4):457-64. Epub 2010 Jul 17.

Srour M, Bolduc V, Guergueltcheva V, Lochmüller H, Gendron D, Shevell Michael I, Poulin C, Mathieu J, Bouchard JP, Brais B. DOK7 mutations presenting as a proximal myopathy in French Canadians. Neuromuscular Disorders. 2010 Jul;20(7):453-7. Epub 2010 Jun 17.

Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, Itakura M, Robitaille Y, Parent L, Baas F, Mizuta K, Kamata N, Richard I, Linssen WHJP, Mahjneh I, De Visser M, Bashir R, Brais B. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Am J Hum Genet. 2010 Feb 12;86(2):213-21. Epub 2010 Jan 21.

Loggia ML, Bushnell MC, Tetreault M, Thiffault I, Bherer C, Mohammed NK, Kuchinad AA, Laferriere A, Dicaire MJ, Loisel L, Mogil JS, Brais B. Carriers of recessive WKN1/HSN2 mutations for hereditary sensory and autonomic neuropathy type 2 (HSAN2) are more sensitive to thermal stimuli. Journal of Neuroscience. 2009 Feb 18;29(7):2162-6.

Brais B. Oculopharyngeal muscular dystrophy: a polyalanine myopathy. Curr Neurol Neurosci Rep. 2009 Jan;9(1) :76-82. Review.

Gosselin I, Thiffaut I, Tetreault M, Chau V, Dicaire MJ, Loisel L, Emond M, Senderek J, Mathieu J, Dupré N, Vanasse M, Puymirat J, Brais B. Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster. Neuromuscular Disorders. 2008 Jun;18(6):483-492. Epub 2008 Jun 3.

Klein AF, Ebihara M, Alexander C, Dicaire MJ, Sasseville MJ, Langelier Y, Rouleau GA, Brais B. PABPN1 polyalanine tract deletion and long expansions modify its aggregation pattern and expression. Experimental Cell Research. 2008 May 1;314(8) :1652-66. Epub 2008 Feb 23.

Nahas SA, Duquette A, Roddier K, Gatti RA, Brais B. Ataxia-oculomotor apraxia 2 patients show no increased sensitivity to ionizing radiation. Neuromuscular Disorders. 2007 Dec;17(11-12):968-9. Epub 2007-08-27.

Rossignol E, Mathieu J, Thiffault I, Tétreault M, Dicaire MJ, Chrestian N, Dupré N, Puymirat J, Brais B. (2007) A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians. Neurology. 2007 Nov 13;69(20):1937-41.

Jarry J, Rioux MF, Bolduc V, Robitaille Y, Khoury V, Thiffault I, Tétreault M, Loisel L, Bouchard JP, Brais B. (2006) A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12. Brain. 2007 Feb;130(Pt 2):368-80. (Epub 2006 Sep 28)

Dr. Heather Durham

Kabashi E, Agar JN, Hong Y, Taylor DM, Minotti S, Figlewicz DA, Durham HD
(2008) Mechanisms of focal impairment of the ubiquitin-proteasome pathway in a mouse model of familial ALS. J Neurochem. 105:2353-2366

Taylor, D.M., Tradewell, M.L., Minotti, S., Durham, H.D.
Characterizing the role of Hsp90 in production of heat shock proteins in motor neurons reveals a suppressive effect of wild-type Hsf1. Cell Stress Chaperones. 2007 Summer;12(2):151-62.
PMID: 17688194

Taylor, D.M., Gibbs, B.F., Kabashi, E., Minotti, S., Durham, H.D., Agar, J.N.
Tryptophan 32 potentiates aggregation and cytotoxicity of a copper/zinc superoxide dismutase mutant associated with familial amyotrophic lateral sclerosis. J Biol Chem. 2007 Jun 1;282(22):16329-35. Epub 2007 Mar 27.
PMID: 17389599

Taylor, D.M., De Koninck, P., Minotti, S., Durham, H.D.
Manipulation of protein kinases reveals different mechanisms for upregulation of heat shock proteins in motor neurons and non-neuronal cells.Mol Cell Neurosci. 2007 Jan;34(1):20-33. Epub 2006 Nov 20.
PMID: 17113785

Batulan, Z., Taylor, D.M., Aarons, R.J., Minotti, S., Doroudchi, M.M., Nalbantoglu, J., Durham, H.D.
Induction of multiple heat shock proteins and neuroprotection in a primary culture model of familial amyotrophic lateral sclerosis. Neurobiol Dis. 2006 Nov;24(2):213-25. Epub 2006 Sep 6.
PMID: 16950627

Kabashi, E., Durham, H.D.
Failure of protein quality control in amyotrophic lateral sclerosis. Biochim Biophys Acta. 2006 Nov-Dec;1762(11-12):1038-50. Epub 2006 Jun 18. Review.
PMID: 16876390

Batulan, Z., Nalbantoglu, J., Durham, H.D.
Nonsteroidal anti-inflammatory drugs differentially affect the heat shock response in cultured spinal cord cells. Cell Stress Chaperones. 2005 Autumn;10(3):185-96.

Kabashi, E., Agar, J.N., Taylor, D.M., Minotti, S., Durham, H.D.
Focal dysfunction of the proteasome: a pathogenic factor in a mouse model of amyotrophic lateral sclerosis. J Neurochem. 2004 Jun;89(6):1325-35.
PMID: 15189335

Batulan, Z., Shinder, G.A., Minotti, S., He, B.P., Doroudchi, M.M., Nalbantoglu, J., Strong, M.J, Durham, H.D.
High threshold for induction of the stress response in motor neurons is associated with failure to activate HSF1. J Neurosci. 2003 Jul 2;23(13):5789-98.
PMID: 12843283

Shinder, G.A., Lacourse, M.C., Minotti, S, Durham, H.D.
Mutant Cu/Zn-superoxide dismutase proteins have altered solubility and interact with heat shock/stress proteins in models of amyotrophic lateral sclerosis. J Biol Chem. 2001 Apr 20;276(16):12791-6. Epub 2001 Jan 22.
PMID: 11278741

Bruening, W., Roy, J., Giasson, B., Figlewicz, D.A., Mushynski, W.E., Durham, H.D.
Up-regulation of protein chaperones preserves viability of cells expressing toxic Cu/Zn-superoxide dismutase mutants associated with amyotrophic lateral sclerosis. J Neurochem. 1999 Feb;72(2):693-9.
PMID: 9930742

Roy, J., Minotti, S., Dong, L., Figlewicz, D.A., Durham, H.D.
Glutamate potentiates the toxicity of mutant Cu/Zn-superoxide dismutase in motor neurons by postsynaptic calcium-dependent mechanisms. J Neurosci. 1998 Dec 1;18(23):9673-84.
PMID: 9822728

Durham, H.D., Roy, J., Dong, L., Figlewicz, D.A.
Aggregation of mutant Cu/Zn superoxide dismutase proteins in a culture model of ALS. J Neuropathol Exp Neurol. 1997 May;56(5):523-30.
PMID: 9143265

Dr. Daniel Gendron

Trojan DA, Gendron D, Cashman NR. Stimulation frequency-dependent neuromuscular junction transmission defects in patients with prior poliomyelitis. J Neurol Sci. 1993 Sep;118(2):150-7.

Trojan DA, Gendron D, Cashman NR. Anticholinesterase-responsive neuromuscular junction transmission defects in post-poliomyelitis fatigue. J Neurol Sci. 1993 Feb;114(2):170-7.

Trojan DA, Gendron D, Cashman NR. Electrophysiology and electrodiagnosis of the post-polio motor unit. Orthopedics. 1991 Dec;14(12):1353-61. Review.

Teitelbaum JS, Zatorre RJ, Carpenter S, Gendron D, Evans AC, Gjedde A, Cashman NR. Neurologic sequelae of domoic acid intoxication due to the ingestion of contaminated mussels. N Engl J Med. 1990 Jun 21;322(25):1781-7.

So N, Berkovic S, Andermann F, Kuzniecky R, Gendron D, Quesney LF. Myoclonus epilepsy and ragged-red fibres (MERRF). 2. Electrophysiological studies and comparison with other progressive myoclonus epilepsies. Brain. 1989 Oct;112 ( Pt 5):1261-76.

Dr. Ken Hastings

Vandenberghe, A.E., Meedel, T.H., Hastings, K.E.M. (2001)
mRNA 5'-leader trans-splicing in the chordates. Genes & Development 15, 294-303.

Hallauer, P.L., Hastings, K.E.M. (2002)
Coregulation of fast contractile protein transgene and glycolytic enzyme expression in mouse skeletal muscle. Am. J. Physiol: Cell Physiol. 282, C113-C124.

Hallauer, P.L., Hastings, K.E.M. (2002)
TnIfast IRE enhancer: multistep developmental regulation during skeletal muscle fiber type differentiation. Devel. Dynam. 224, 422-431.

Dehal P, Satou Y, Campbell RK, Chapman J, Degnan B, De Tomaso A, Davidson B, Di Gregorio A, Gelpke M, Goodstein DM, Harafuji N, Hastings KEM, Ho I, Hotta K, Huang W, Kawashima T, Lemaire P, Martinez D, Meinertzhagen IA, Necula S, Nonaka M, Putnam N, Rash S, Saiga H, Satake M, Terry A, Yamada L, Wang HG, Awazu S, Azumi K, Boore J, Branno M, Chin-Bow S, DeSantis R, Doyle S, Francino P, Keys DN, Haga S, Hayashi H, Hino K, Imai KS, Inaba K, Kano S, Kobayashi K, Kobayashi M, Lee BI, Makabe KW, Manohar C, Matassi G, Medina M, Mochizuki Y, Mount S, Morishita T, Miura S, Nakayama A, Nishizaka S, Nomoto H, Ohta F, Oishi K, Rigoutsos I, Sano M, Sasaki A, Sasakura Y, Shoguchi E, Shin-i T, Spagnuolo A, Stainier D, Suzuki MM, Tassy O, Takatori N, Tokuoka M, Yagi K, Yoshizaki F, Wada S, Zhang C, Hyatt PD, Larimer F, Detter C, Doggett N, Glavina T, Hawkins T, Richardson P, Lucas S, Kohara Y, Levine M, Satoh N, Rokhsar DS.
(2002) The draft genome of Ciona intestinalis: insights into chordate and vertebrate origins. Science 298, 2157-2167.

Chiba, S., Awazu, S., Itoh, M., Chin-Bow, S.T., Satoh, N., Satou, Y., Hastings, K.E.M. (2003)
A genomewide survey of developmentally relevant genes in Ciona intestinalis: (IX) Genes for muscle structural proteins. Development, Genes &Evolution 213, 291-302.

Cleto, C.L., Vandenberghe, A.E., MacLean, D.W., Pannunzio, P., Tortorelli, C., Meedel, T.H., Satou, Y., Satoh, N., Hastings, K.E.M. (2003)
Ascidian larva reveals ancient origin of vertebrate-skeletal-muscle troponin I characteristics in chordate locomotory muscle. Molecular Biology and Evolution 20, 2113-2122.

Hastings, K.E.M. (2005)
SL trans-splicing: easy come or easy go? Trends in Genetics 21, 240-247

Satou, Y., Hamaguchi, M., Takeuchi, K., Hastings, K.E. M., Nori Satoh, N. (2006)
Genomic overview of mRNA 5'-leader trans-splicing in the ascidian Ciona intestinalis. Nucleic Acids Research 34, 3378-3388

Satou Y, Mineta K, Ogasawara M, Sasakura Y, Shoguchi E, Ueno K, Yamada L, Matsumoto J, Wasserscheid J, Dewar K, Wiley GB, Macmil SL, Roe BA, Zeller RW, Hastings KEM, Lemaire P, Lindquist E, Endo T, Hotta K, Inaba K. (2008) Improved genome assembly and evidence-based global gene model set for the chordate Ciona intestinalis: new insight into intron and operon populations. Genome Biol. 9:R152.

Dr. Paul Holland

Larochelle N, Teng Q, Gilbert R, Deol JR, Karpati G, Holland PC, Nalbantoglu J. Modulation of coxsackie and adenovirus receptor expression for gene transfer to normal and dystrophic skeletal muscle. J Gene Med. 2010 Mar;12(3):266-75.

H. Peng, W. Shah, P. Holland, and S. Carbonetto
Integrins and dystroglycan regulate astrocyte wound healing: the integrin beta1 subunit is necessary for process extension and orienting the microtubular network. Dev Neurobiol 68 (2008) 559-74.

N. Larochelle, J.R. Deol, V. Srivastava, C. Allen, H. Mizuguchi, G. Karpati, P.C. Holland, and J. Nalbantoglu
Downregulation of CD46 during muscle differentiation: implications for gene transfer to human skeletal muscle using group B adenoviruses. Hum Gene Ther 19 (2008) 133-42.

K.C. Huang, Z. Yasruel, C. Guerin, P.C. Holland, and J. Nalbantoglu
Interaction of the Coxsackie and adenovirus receptor (CAR) with the cytoskeleton: binding to actin. FEBS Lett 581 (2007) 2702-8.

P.T. Fok, K.C. Huang, P.C. Holland, and J. Nalbantoglu
The Coxsackie and adenovirus receptor binds microtubules and plays a role in cell migration. J Biol Chem 282 (2007) 7512-21.

C.A. Shaw, N. Larochelle, R.W. Dudley, H. Lochmuller, G. Danialou, B.J. Petrof, G. Karpati, P.C. Holland, and J. Nalbantoglu
Simultaneous dystrophin and dysferlin deficiencies associated with high-level expression of the coxsackie and adenovirus receptor in transgenic mice. Am J Pathol 169 (2006) 2148-60.

M. Sinnreich, C.A. Shaw, G. Pari, J. Nalbantoglu, P.C. Holland, and G. Karpati
Localization of coxsackie virus and adenovirus receptor (CAR) in normal and regenerating human muscle. Neuromuscul Disord 15 (2005) 541-8.

Dr. George Karpati

Matecki S, Dudley RW, Divangahi M, Gilbert R, Nalbantoglu J, Karpati G, Petrof BJ.
Therapeutic gene transfer to dystrophic diaphragm by an adenoviral vector deleted of all viral genes. Am J Physiol Lung Cell Mol Physiol. 2004 May 21 [Epub ahead of print] PMID: 15155269 [PubMed - as supplied by publisher]

Karpati G, Sinnreich M. A clever road from myopathology to genes: the myotilin story. Neurology. 2004 Apr 27;62(8):1248-9. No abstract available. PMID: 15111657 [PubMed - in process]

Dudley RW, Lu Y, Gilbert R, Matecki S, Nalbantoglu J, Petrof BJ, Karpati G.
Sustained improvement of muscle function one year after full-length dystrophin gene transfer into mdx mice by a gutted helper-dependent adenoviral vector. Hum Gene Ther. 2004 Feb;15(2):145-56. PMID: 14975187 [PubMed - in process]

Karpati G, Sinnreich M.
The molecular era of myology. J Neuropathol Exp Neurol. 2003 Dec;62(12):1203-10. Review. PMID: 14692696 [PubMed - indexed for MEDLINE]

Karpati G, Nalbantoglu J.
The principles of molecular therapies for glioblastoma. Int Rev Neurobiol. 2003;55:151-63. Review. No abstract available. PMID: 12968535 [PubMed - indexed for MEDLINE]

Fan X, Messaed C, Dion P, Laganiere J, Brais B, Karpati G, Rouleau GA.
HnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophy. Can J Neurol Sci. 2003 Aug;30(3):244-51. PMID: 12945950 [PubMed - indexed for MEDLINE]

Karpati G.
Molecular therapies for the nervous system and muscle. Ernst Schering Res Found Workshop. 2003;(43):159-78. Review. No abstract available. PMID: 12894456 [PubMed - indexed for MEDLINE]

Dupre N, Howard HC, Mathieu J, Karpati G, Vanasse M, Bouchard JP, Carpenter S, Rouleau GA.
Hereditary motor and sensory neuropathy with agenesis of the corpus callosum. Ann Neurol. 2003 Jul;54(1):9-18. Review. PMID: 12838516 [PubMed - indexed for MEDLINE]

Gilbert R, Dudley RW, Liu AB, Petrof BJ, Nalbantoglu J, Karpati G.
Prolonged dystrophin expression and functional correction of mdx mouse muscle following gene transfer with a helper-dependent (gutted) adenovirus-encoding murine dystrophin. Hum Mol Genet. 2003 Jun 1;12(11):1287-99. PMID: 12761044 [PubMed - indexed for MEDLINE]

Dunant P, Walter MC, Karpati G, Lochmuller H.
Gentamicin fails to increase dystrophin expression in dystrophin-deficient muscle. Muscle Nerve. 2003 May;27(5):624-7. PMID: 12707984 [PubMed - indexed for MEDLINE]

Cerletti M, Negri T, Cozzi F, Colpo R, Andreetta F, Croci D, Davies KE, Cornelio F, Pozza O, Karpati G, Gilbert R, Mora M.
Dystrophic phenotype of canine X-linked muscular dystrophy is mitigated by adenovirus-mediated utrophin gene transfer. Gene Ther. 2003 May;10(9):750-7. PMID: 12704413 [PubMed - indexed for MEDLINE]

Karpati G, Holland P.
Sweetening the pot in muscle: genetic defects of protein glycosylation causing muscle disease. Neurology. 2002 Dec 10;59(11):1674-6. Review. No abstract available. PMID: 12473751 [PubMed - indexed for MEDLINE]

Danialou G, Comtois AS, Dudley RW, Nalbantoglu J, Gilbert R, Karpati G, Jones DH, Petrof BJ.
Ultrasound increases plasmid-mediated gene transfer to dystrophic muscles without collateral damage. Mol Ther. 2002 Nov;6(5):687-93. PMID: 12436962 [PubMed - indexed for MEDLINE]

Gilbert R, Liu A, Petrof B, Nalbantoglu J, Karpati G.
Improved performance of a fully gutted adenovirus vector containing two full-length dystrophin cDNAs regulated by a strong promoter. Mol Ther. 2002 Oct;6(4):501-9. PMID: 12377192 [PubMed - indexed for MEDLINE]

Sasarman F, Karpati G, Shoubridge EA.
Nuclear genetic control of mitochondrial translation in skeletal muscle revealed in patients with mitochondrial myopathy. Hum Mol Genet. 2002 Jul 1;11(14):1669-81. PMID: 12075011 [PubMed - indexed for MEDLINE]

Dr. Eric Shoubridge

Ogilvie, I, Kennaway, NG, Shoubridge, EA. A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. J Clin Invest 115, 2784-2792. 2005

Antonicka, H, Sasarman, F, Kennaway, NG, Shoubridge, EA. The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1. Hum Mol Genet. 15, 1835-46. 2006.

Leary, SC, Cobine, PA, Kaufman, BA, Guercin, GH, Mattman, A, Palaty, J, Lockitch, G, Winge, DR, Rustin, P, Horvath, R, Shoubridge EA. The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis. Cell Metab 5, 9-20. 2007.

Kaufman, BA, Durisic, N, Mativetsky, JM, Costantino, S, Hancock, MA, Grutter, P, Shoubridge, EA. The mitochondrial transcription factor TFAM coordinates the assembly of multiple DNA molecules into nucleoid-like structures. Mol Biol Cell 18, 3225-36. 2007.

Sasarman, F, Antonicka, H, Shoubridge, EA. The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2. Hum Mol Genet. 17, 3697-707. 2008.

Wai, T., Teoli, D, Shoubridge, EA. The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes during oocyte maturation in early postnatal life. Nature Genet . 40, 1484-8. 2008.

Dr. Michael Sinnreich

Therrien C, Dodig D, Karpati G and Sinnreich M. Mutation impact on dysferlin inferred from database analysis and computer based structural predictions. J Neurol Sci 2006, in press.

Kuntzer T., Bader C. and Sinnreich M. Mechanisms leading to muscle degeneration: molecular mechanisms and therapeutical forecasts] Rev Med Suisse. 2006, 2(64):1174-7.

Sinnreich M, Therrien C and Karpati G. Lariat branch point mutation in the dysferlin gene with mild limb-girdle muscular dystrophy. Neurology, April 2006; 66:1114-1116.

Sinnreich M, Shaw CA, Pari G, Nalbantoglu J, Holland PC and Karpati G. Localization of coxsackievirus and adenovirus receptor (CAR) in normal and regenerating human muscle. Neuromuscul Disord, 2005: 541-548.

Sinnreich M., Taylor BV, Dyck PJ. Diabetic neuropathies. Classification, clinical features, and pathophysiological basis. Neurologist. 2005, 11(2):63-79.

Sinnreich M., Klein CJ, Daube JR, Engelstad J, Spinner RJ, and Dyck PJB. Chronic immune sensory polyradiculopathy: A possibly treatable sensory ataxia. Neurology, 2004, 63: 1662 - 1669.

Shaw CA, Holland PC, Sinnreich M, Allen C, Sollerbrant K, Karpati G, Nalbantoglu J. Isoform-specific expression of the Coxsackie and adenovirus receptor (CAR) in neuromuscular junction and cardiac intercalated discs. BMC Cell Biology 2004, 5:42.

Sinnreich M, Sorenson EJ, Klein CJ. Neurologic course, endocrine dysfunction and triplet repeat size in spinal bulbar muscular atrophy. Can J Neurol Sci 2004, 31(3):378-82.

Sinnreich M, Klein CJ. Bulbospinal muscular atrophy: Kennedy's disease. Arch Neurol. 2004, 61(8):1324-6.

Karpati G, Sinnreich M. A clever road from myopathology to genes: the myotilin story. Neurology. 2004, 62(8): 1248-9.

Dr. Hiroshi Tsuda

Han S.M., Tsuda H., Yang Y., Vibbert J., Tong C., Cottee P, Haueter C., Prasain J., Bellen H.J., Miller M.A. (2012). Secreted VAPB/ALS8 Major Sperm Protein Domains Modulate Mitochondrial Localization and Morphology via Growth Cone Guidance Receptors. Developmental Cell, Feb 14;22(2):348-62. Highlighted on the cover and preview in Developmental Cell.

Mitne-Neto M., Machado-Costac M., Marchetto M.C.., Bengtson M.H., Joazeiro C.A., Tsuda, H., Hugo J. Bellenf, Helga A. C., Silva H.C. , Oliveira A.S., Muotri A. R., Zatz M.(2011) Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem-cells of ALS8 patients. Molecular Human Genetics, Sep 15;20(18):3642-52.

Bellen H.J., Tong C., Tsuda H. (2010). 100 years of Drosophila research and its impact on vertebrate neuroscience: a history lesson for the future. Nature Review Neuroscience, Apr 9;11(7):514-522.

Tsuda H., Han S.M., Yang Y., Tong C., Lin Y.Q., Mohan K., Haueter C., Zoghbi A., Harati Y., Kwan J., Miller M.A., Bellen H.J. (2008). The Amyotrophic Lateral Sclerosis 8 protein VAPB is cleaved, secreted, and acts as a ligand for Eph receptors. Cell, Jun 13, 133:963-977 Highlighted on the cover and preview in Cell and rated as “Exceptional” by Faculty of 1000.

Tsuda H., Jafar-Nejad H., Patel A.J., Sun Y., Chen H.K., Rose M.F., Venken K.J., Botas J., Orr H.T., Bellen H.J., Zoghbi H.Y. (2005). The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins. Cell, Aug 26; 122:633-644. Selected in the News and View section of Nature Neuroscience 2005 Nov; 8: 1422-1424.