1 - 25 of 88 results for author:"Brown R.H. Jr." in Literature citations
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| Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis. Gonzalez-Perez P., Cirulli E.T., Drory V.E., Dabby R., Nisipeanu P., Carasso R.L., Sadeh M., Fox A., Festoff B.W., Sapp P.C. et al. Neurology 79:2201-2208(2012) · Mapped (6) |
| EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans. Van Hoecke A., Schoonaert L., Lemmens R., Timmers M., Staats K.A., Laird A.S., Peeters E., Philips T., Goris A., Dubois B. et al. Nat. Med. 18:1418-1422(2012) · Mapped (25) |
| Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. Wu C.H., Fallini C., Ticozzi N., Keagle P.J., Sapp P.C., Piotrowska K., Lowe P., Koppers M., McKenna-Yasek D., Baron D.M. et al. |
| Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS. Gonzalez-Perez P., Lu Y., Chian R.J., Sapp P.C., Tanzi R.E., Bertram L., McKenna-Yasek D., Gao F.B., Brown R.H. Jr. Neurobiol. Dis. 48:391-398(2012) · Mapped (4) |
| Homologous recombination mediates functional recovery of dysferlin deficiency following AAV5 gene transfer. Grose W.E., Clark K.R., Griffin D., Malik V., Shontz K.M., Montgomery C.L., Lewis S., Brown R.H. Jr., Janssen P.M., Mendell J.R. et al. PLoS ONE 7:e39233-e39233(2012) · Mapped (6) |
| dSarm/Sarm1 is required for activation of an injury-induced axon death pathway. Osterloh J.M., Yang J., Rooney T.M., Fox A.N., Adalbert R., Powell E.H., Sheehan A.E., Avery M.A., Hackett R., Logan M.A. et al. |
| Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS. Diekstra F.P., Saris C.G., van Rheenen W., Franke L., Jansen R.C., van Es M.A., van Vught P.W., Blauw H.M., Groen E.J., Horvath S. et al. PLoS ONE 7:e35333-e35333(2012) · Mapped (1) |
| Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients. Ramos E.M., Keagle P., Gillis T., Lowe P., Mysore J.S., Leclerc A.L., Ratti A., Ticozzi N., Gellera C., Gusella J.F. et al. Amyotroph Lateral Scler 13:265-269(2012) · Mapped (4) |
| Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis. van Es M.A., Schelhaas H.J., van Vught P.W., Ticozzi N., Andersen P.M., Groen E.J., Schulte C., Blauw H.M., Koppers M., Diekstra F.P. et al. Ann. Neurol. 70:964-973(2011) · Mapped (3) |
| Anti-superoxide dismutase antibodies are associated with survival in patients with sporadic amyotrophic lateral sclerosis. van Blitterswijk M., Gulati S., Smoot E., Jaffa M., Maher N., Hyman B.T., Ivinson A.J., Scherzer C.R., Schoenfeld D.A., Cudkowicz M.E. et al. Amyotroph Lateral Scler 12:430-438(2011) · Mapped (2) |
| Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. Duff R.M., Tay V., Hackman P., Ravenscroft G., McLean C., Kennedy P., Steinbach A., Schoffler W., van der Ven P.F., Furst D.O. et al. Am. J. Hum. Genet. 88:729-740(2011) · UniProtKB (1) · Mapped (2) |
| A yeast model of FUS/TLS-dependent cytotoxicity. Ju S., Tardiff D.F., Han H., Divya K., Zhong Q., Maquat L.E., Bosco D.A., Hayward L.J., Brown R.H. Jr., Lindquist S. et al. PLoS Biol. 9:e1001052-e1001052(2011) · Mapped (12) |
| Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis. Ticozzi N., Vance C., Leclerc A.L., Keagle P., Glass J.D., McKenna-Yasek D., Sapp P.C., Silani V., Bosco D.A., Shaw C.E. et al. Am. J. Med. Genet. B Neuropsychiatr. Genet. 156B:285-290(2011) · Mapped (3) |
| Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS. Bosco D.A., Morfini G., Karabacak N.M., Song Y., Gros-Louis F., Pasinelli P., Goolsby H., Fontaine B.A., Lemay N., McKenna-Yasek D. et al. Nat. Neurosci. 13:1396-1403(2010) · Mapped (2) |
| A large genome scan for rare CNVs in amyotrophic lateral sclerosis. Blauw H.M., Al-Chalabi A., Andersen P.M., van Vught P.W., Diekstra F.P., van Es M.A., Saris C.G., Groen E.J., van Rheenen W., Koppers M. et al. Hum. Mol. Genet. 19:4091-4099(2010) · Mapped (13) |
| Paraoxonase gene mutations in amyotrophic lateral sclerosis. Ticozzi N., LeClerc A.L., Keagle P.J., Glass J.D., Wills A.M., van Blitterswijk M., Bosco D.A., Rodriguez-Leyva I., Gellera C., Ratti A. et al. Ann. Neurol. 68:102-107(2010) · Mapped (13) |
| Membrane blebbing as an assessment of functional rescue of dysferlin-deficient human myotubes via nonsense suppression. Wang B., Yang Z., Brisson B.K., Feng H., Zhang Z., Welch E.M., Peltz S.W., Barton E.R., Brown R.H. Jr., Sweeney H.L. J. Appl. Physiol. 109:901-905(2010) · Mapped (6) |
| Tau levels do not influence human ALS or motor neuron degeneration in the SOD1G93A mouse. Taes I., Goris A., Lemmens R., van Es M.A., van den Berg L.H., Chio A., Traynor B.J., Birve A., Andersen P., Slowik A. et al. Neurology 74:1687-1693(2010) · Mapped (6) |
| ALS-linked mutant SOD1 damages mitochondria by promoting conformational changes in Bcl-2. Pedrini S., Sau D., Guareschi S., Bogush M., Brown R.H. Jr., Naniche N., Kia A., Trotti D., Pasinelli P. Hum. Mol. Genet. 19:2974-2986(2010) · Mapped (9) |
| Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis. Bogaert E., Goris A., Van Damme P., Geelen V., Lemmens R., van Es M.A., van den Berg L.H., Sleegers K., Verpoorten N., Timmerman V. et al. Neurobiol. Aging 33:418-420(2012) · Mapped (14) |
| Dysferlin overexpression in skeletal muscle produces a progressive myopathy. Glover L.E., Newton K., Krishnan G., Bronson R., Boyle A., Krivickas L.S., Brown R.H. Jr. Ann. Neurol. 67:384-393(2010) · Mapped (6) |
| Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. Penno A., Reilly M.M., Houlden H., Laura M., Rentsch K., Niederkofler V., Stoeckli E.T., Nicholson G., Eichler F., Brown R.H. Jr. et al. J. Biol. Chem. 285:11178-11187(2010) · Mapped (4) |
| Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis. Ryan D.P., da Silva M.R., Soong T.W., Fontaine B., Donaldson M.R., Kung A.W., Jongjaroenprasert W., Liang M.C., Khoo D.H., Cheah J.S. et al. Cell 140:88-98(2010) · UniProtKB (1) |
| Mutational analysis of TARDBP in neurodegenerative diseases. Ticozzi N., LeClerc A.L., van Blitterswijk M., Keagle P., McKenna-Yasek D.M., Sapp P.C., Silani V., Wills A.M., Brown R.H. Jr., Landers J.E. Neurobiol. Aging 32:2096-2099(2011) · Mapped (5) |
| Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy. Collie A.M., Landsverk M.L., Ruzzo E., Mefford H.C., Buysse K., Adkins J.R., Knutzen D.M., Barnett K., Brown R.H. Jr., Parry G.J. et al. J. Med. Genet. 47:601-607(2010) · Mapped (5) |