Section of Neuromuscular Medicine

Search results

  • 2013

    SMA-MAP: A Plasma Protein Panel for Spinal Muscular Atrophy

    Biomarkers for Spinal Muscular Atrophy Study Group & Pediatric Neuromuscular Clinical Research Network, Apr 2 2013, In: PloS one. 8, 4, e60113.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    46 Scopus citations

  • SOD1 in cerebral spinal fluid as a pharmacodynamic marker for antisense oligonucleotide therapy

    Winer, L., Srinivasan, D., Chun, S., Lacomis, D., Jaffa, M., Fagan, A., Holtzman, D. M., Wancewicz, E., Bennett, C. F., Bowser, R., Cudkowicz, M. & Miller, T. M., Feb 2013, In: JAMA Neurology. 70, 2, p. 201-207 7 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    96 Scopus citations

  • The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: Reliability, concurrent validity, and minimal clinically important differences from a multicenter study

    Mcdonald, C. M., Henricson, E. K., Abresch, R. T., Florence, J., Eagle, M., Gappmaier, E., Glanzman, A. M., Spiegel, R., Barth, J., Elfring, G., Reha, A. & Peltz, S. W., Sep 2013, In: Muscle and Nerve. 48, 3, p. 357-368 12 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    262 Scopus citations

  • THE 6-minute walk test and other endpoints in Duchenne muscular dystrophy: Longitudinal natural history observations over 48 weeks from a multicenter study

    Mcdonald, C. M., Henricson, E. K., Abresch, R. T., Florence, J. M., Eagle, M., Gappmaier, E., Glanzman, A. M., Spiegel, R., Barth, J., Elfring, G., Reha, A. & Peltz, S., Sep 2013, In: Muscle and Nerve. 48, 3, p. 343-356 14 p.

    Research output: Contribution to journal › Article › peer-review

    263 Scopus citations

  • The cooperative international neuromuscular research group Duchenne natural history study: Glucocorticoid treatment preserves clinically meaningful functional milestones and reduces rate of disease progression as measured by manual muscle testing and other commonly used clinical trial outcome measures

    the CINRG Investigators, Jul 1 2013, In: Muscle and Nerve. 48, 1, p. 55-67 13 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    173 Scopus citations

  • The Cooperative International Neuromuscular Research Group Duchenne Natural History Study-A Longitudinal Investigation In The Era Of Glucocorticoid Therapy: Design Of Protocol And The Methods Used

    the CINRG Investigators, Jul 1 2013, In: Muscle and Nerve. 48, 1, p. 32-54 23 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    147 Scopus citations

  • Therapeutic exercise for people with amyotrophic lateral sclerosis or motor neuron disease

    Dal Bello-Haas, V. & Florence, J. M., May 31 2013, In: Cochrane Database of Systematic Reviews. 2013, 5, CD005229.

    Research output: Contribution to journal › Review article › peer-review

    72 Scopus citations

  • Ultrasound of inherited vs. acquired demyelinating polyneuropathies

    Zaidman, C. M., Harms, M. B. & Pestronk, A., Dec 2013, In: Journal of Neurology. 260, 12, p. 3115-3121 7 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    137 Scopus citations
  • 2012

    An aggregation sensing reporter identifies leflunomide and teriflunomide as polyglutamine aggregate inhibitors

    Fuentealba, R. A., Marasa, J., Diamond, M. I., Piwnica-Worms, D. & Weihl, C. C., Feb 2012, In: Human molecular genetics. 21, 3, p. 664-680 17 p., ddr500.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    33 Scopus citations

  • Calpastatin overexpression limits calpain-mediated proteolysis and behavioral deficits following traumatic brain injury

    Schoch, K. M., Evans, H. N., Brelsfoard, J. M., Madathil, S. K., Takano, J., Saido, T. C. & Saatman, K. E., Aug 2012, In: Experimental Neurology. 236, 2, p. 371-382 12 p.

    Research output: Contribution to journal › Article › peer-review

    39 Scopus citations

  • Clinical and laboratory features of neuropathies with serum IgM binding to TS-HDS

    Pestronk, A., Schmidt, R. E., Choksi, R. M., Sommerville, R. B. & Al-Lozi, M. T., Jun 2012, In: Muscle and Nerve. 45, 6, p. 866-872 7 p.

    Research output: Contribution to journal › Article › peer-review

    36 Scopus citations

  • Consensus statement on standard of care for congenital myopathies

    Wang, C. H., Dowling, J. J., North, K., Schroth, M. K., Sejersen, T., Shapiro, F., Bellini, J., Weiss, H., Guillet, M., Amburgey, K., Apkon, S., Bertini, E., Bonnemann, C., Clarke, N., Connolly, A. M., Estournet-Mathiaud, B., Fitzgerald, D., Florence, J. M., Gee, R. & Gurgel-Giannetti, J. & 14 others, Glanzman, A. M., Hofmeister, B., Jungbluth, H., Koumbourlis, A. C., Laing, N. G., Main, M., Morrison, L. A., Munns, C., Rose, K., Schuler, P. M., Sewry, C., Storhaug, K., Vainzof, M. & Yuan, N., Mar 2012, In: Journal of Child Neurology. 27, 3, p. 363-382 20 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    145 Scopus citations

  • Evidence from cluster analysis for differentiation of antisaccade performance groups based on speed/accuracy trade-offs

    Li, Q., Amlung, M. T., Valtcheva, M., Camchong, J., Austin, B. P., Dyckman, K. A., Unsworth, N., Clementz, B. A. & McDowell, J. E., Aug 2012, In: International Journal of Psychophysiology. 85, 2, p. 274-277 4 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    5 Scopus citations

  • Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy

    Harms, M. B., Sommerville, R. B., Allred, P., Bell, S., Ma, D., Cooper, P., Lopate, G., Pestronk, A., Weihl, C. C. & Baloh, R. H., Mar 2012, In: Annals of neurology. 71, 3, p. 407-416 10 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    140 Scopus citations

  • Genetic Manipulation of Cell Death and Neuroplasticity Pathways in Traumatic Brain Injury

    Schoch, K. M., Madathil, S. K. & Saatman, K. E., Apr 2012, In: Neurotherapeutics. 9, 2, p. 323-337 15 p.

    Research output: Contribution to journal › Review article › peer-review

    Open Access
    29 Scopus citations

  • Guidelines for the use and interpretation of assays for monitoring autophagy

    Klionsky, D. J., Abdalla, F. C., Abeliovich, H., Abraham, R. T., Acevedo-Arozena, A., Adeli, K., Agholme, L., Agnello, M., Agostinis, P., Aguirre-Ghiso, J. A., Ahn, H. J., Ait-Mohamed, O., Ait-Si-Ali, S., Akematsu, T., Akira, S., Al-Younes, H. M., Al-Zeer, M. A., Albert, M. L., Albin, R. L. & Alegre-Abarrategui, J. & 1,249 others, Aleo, M. F., Alirezaei, M., Almasan, A., Almonte-Becerril, M., Amano, A., Amaravadi, R., Amarnath, S., Amer, A. O., Andrieu-Abadie, N., Anantharam, V., Ann, D. K., Anoopkumar-Dukie, S., Aoki, H., Apostolova, N., Arancia, G., Aris, J. P., Asanuma, K., Asare, N. Y. O., Ashida, H., Askanas, V., Askew, D. S., Auberger, P., Baba, M., Backues, S. K., Baehrecke, E. H., Bahr, B. A., Bai, X. Y., Bailly, Y., Baiocchi, R., Baldini, G., Balduini, W., Ballabio, A., Bamber, B. A., Bampton, E. T. W., Bánhegyi, G., Bartholomew, C. R., Bassham, D. C., Bast, R. C., Batoko, H., Bay, B. H., Beau, I., Béchet, D. M., Begley, T. J., Behl, C., Behrends, C., Bekri, S., Bellaire, B., Bendall, L. J., Benetti, L., Berliocchi, L., Bernardi, H., Bernassola, F., Besteiro, S., Bhatia-Kissova, I., Bi, X., Biard-Piechaczyk, M., Blum, J. S., Boise, L. H., Bonaldo, P., Boone, D. L., Bornhauser, B. C., Bortoluci, K. R., Bossis, I., Bost, F., Bourquin, J. P., Boya, P., Boyer-Guittaut, M., Bozhkov, P. V., Brady, N. R., Brancolini, C., Brech, A., Brenman, J. E., Brennand, A., Bresnick, E. H., Brest, P., Bridges, D., Bristol, M. L., Brookes, P. S., Brown, E. J., Brumell, J. H., Brunetti-Pierri, N., Brunk, U. T., Bulman, D. E., Bultman, S. J., Bultynck, G., Burbulla, L. F., Bursch, W., Butchar, J. P., Buzgariu, W., Bydlowski, S. P., Cadwell, K., Cahová, M., Cai, D., Cai, J., Cai, Q., Calabretta, B., Calvo-Garrido, J., Camougrand, N., Campanella, M., Campos-Salinas, J., Candi, E., Cao, L., Caplan, A. B., Carding, S. R., Cardoso, S. M., Carew, J. S., Carlin, C. R., Carmignac, V., Carneiro, L. A. M., Carra, S., Caruso, R. A., Casari, G., Casas, C., Castino, R., Cebollero, E., Cecconi, F., Celli, J., Chaachouay, H., Chae, H. J., Chai, C. Y., Chan, D. C., Chan, E. Y., Chang, R. C. C., Che, C. M., Chen, C. C., Chen, G. C., Chen, G. Q., Chen, M., Chen, Q., Chen, S. S. L., Chen, W. L., Chen, X., Chen, X., Chen, X., Chen, Y. G., Chen, Y., Chen, Y., Chen, Y. J., Chen, Z., Cheng, A., Cheng, C. H. K., Cheng, Y., Cheong, H., Cheong, J. H., Cherry, S., Chess-Williams, R., Cheung, Z. H., Chevet, E., Chiang, H. L., Chiarelli, R., Chiba, T., Chin, L. S., Chiou, S. H., Chisari, F. V., Cho, C. H., Cho, D. H., Choi, A. M. K., Choi, D. S., Choi, K. S., Choi, M. E., Chouaib, S., Choubey, D., Choubey, V., Chu, C. T., Chuang, T. H., Chueh, S. H., Chun, T., Chwae, Y. J., Chye, M. L., Ciarcia, R., Ciriolo, M. R., Clague, M. J., Clark, R. S. B., Clarke, P. G. H., Clarke, R., Codogno, P., Coller, H. A., Colombo, M. I., Comincini, S., Condello, M., Condorelli, F., Cookson, M. R., Coombs, G. H., Coppens, I., Corbalan, R., Cossart, P., Costelli, P., Costes, S., Coto-Montes, A., Couve, E., Coxon, F. P., Cregg, J. M., Crespo, J. L., Cronjé, M. J., Cuervo, A. M., Cullen, J. J., Czaja, M. J., D'Amelio, M., Darfeuille-Michaud, A., Davids, L. M., Davies, F. E., De Felici, M., De Groot, J. F., De Haan, C. A. M., De Martino, L., De Milito, A., De Tata, V., Debnath, J., Degterev, A., Dehay, B., Delbridge, L. M. D., Demarchi, F., Deng, Y. Z., Dengjel, J., Dent, P., Denton, D., Deretic, V., Desai, S. D., Devenish, R. J., Di Gioacchino, M., Di Paolo, G., Di Pietro, C., Díaz-Araya, G., Díaz-Laviada, I., Diaz-Meco, M. T., Diaz-Nido, J., Dikic, I., Dinesh-Kumar, S. P., Ding, W. X., Distelhorst, C. W., Diwan, A., Djavaheri-Mergny, M., Dokudovskaya, S., Dong, Z., Dorsey, F. C., Dosenko, V., Dowling, J. J., Doxsey, S., Dreux, M., Drew, M. E., Duan, Q., Duchosal, M. A., Duff, K., Dugail, I., Durbeej, M., Duszenko, M., Edelstein, C. L., Edinger, A. L., Egea, G., Eichinger, L., Eissa, N. T., Ekmekcioglu, S., El-Deiry, W. S., Elazar, Z., Elgendy, M., Ellerby, L. M., Er Eng, K., Engelbrecht, A. M., Engelender, S., Erenpreisa, J., Escalante, R., Esclatine, A., Eskelinen, E. L., Espert, L., Espina, V., Fan, H., Fan, J., Fan, Q. W., Fan, Z., Fang, S., Fang, Y., Fanto, M., Fanzani, A., Farkas, T., Farré, J. C., Faure, M., Fechheimer, M., Feng, C. G., Feng, J., Feng, Q., Feng, Y., Fésüs, L., Feuer, R., Figueiredo-Pereira, M. E., Fimia, G. M., Fingar, D. C., Finkbeiner, S., Finkel, T., Finley, K. D., Fiorito, F., Fisher, E. A., Fisher, P. B., Flajolet, M., Florez-McClure, M. L., Florio, S., Fon, E. A., Fornai, F., Fortunato, F., Fotedar, R., Fowler, D. H., Fox, H. S., Franco, R., Frankel, L. B., Fransen, M., Fuentes, J. M., Fueyo, J., Fujii, J., Fujisaki, K., Fujita, E., Fukuda, M., Furukawa, R. H., Gaestel, M., Gailly, P., Gajewska, M., Galliot, B., Galy, V., Ganesh, S., Ganetzky, B., Ganley, I. G., Gao, F. B., Gao, G. F., Gao, J., Garcia, L., Garcia-Manero, G., Garcia-Marcos, M., Garmyn, M., Gartel, A. L., Gatti, E., Gautel, M., Gawriluk, T. R., Gegg, M. E., Geng, J., Germain, M., Gestwicki, J. E., Gewirtz, D. A., Ghavami, S., Ghosh, P., Giammarioli, A. M., Giatromanolaki, A. N., Gibson, S. B., Gilkerson, R. W., Ginger, M. L., Ginsberg, H. N., Golab, J., Goligorsky, M. S., Golstein, P., Gomez-Manzano, C., Goncu, E., Gongora, C., Gonzalez, C. D., Gonzalez, R., González-Estévez, C., González-Polo, R. A., Gonzalez-Rey, E., Gorbunov, N. V., Gorski, S., Goruppi, S., Gottlieb, R. A., Gozuacik, D., Granato, G. E., Grant, G. D., Green, K. N., Gregorc, A., Gros, F., Grose, C., Grunt, T. W., Gual, P., Guan, J. L., Guan, K. L., Guichard, S. M., Gukovskaya, A. S., Gukovsky, I., Gunst, J., Gustafsson, A. B., Halayko, A. J., Hale, A. N., Halonen, S. K., Hamasaki, M., Han, F., Han, T., Hancock, M. K., Hansen, M., Harada, H., Harada, M., Hardt, S. E., Harper, J. W., Harris, A. L., Harris, J., Harris, S. D., Hashimoto, M., Haspel, J. A., Hayashi, S. I., Hazelhurst, L. A., He, C., He, Y. W., Hébert, M. J., Heidenreich, K. A., Helfrich, M. H., Helgason, G. V., Henske, E. P., Herman, B., Herman, P. K., Hetz, C., Hilfiker, S., Hill, J. A., Hocking, L. J., Hofman, P., Hofmann, T. G., Höhfeld, J., Holyoake, T. L., Hong, M. H., Hood, D. A., Hotamisligil, G. S., Houwerzijl, E. J., Høyer-Hansen, M., Hu, B., Hu, C. A. A., Hu, H. M., Hua, Y., Huang, C., Huang, J., Huang, S., Huang, W. P., Huber, T. B., Huh, W. K., Hung, T. H., Hupp, T. R., Hur, G. M., Hurley, J. B., Hussain, S. N. A., Hussey, P. J., Hwang, J. J., Hwang, S., Ichihara, A., Ilkhanizadeh, S., Inoki, K., Into, T., Iovane, V., Iovanna, J. L., Ip, N. Y., Isaka, Y., Ishida, H., Isidoro, C., Isobe, K. I., Iwasaki, A., Izquierdo, M., Izumi, Y., Jaakkola, P. M., Jäättelä, M., Jackson, G. R., Jackson, W. T., Janji, B., Jendrach, M., Jeon, J. H., Jeung, E. B., Jiang, H., Jiang, H., Jiang, J. X., Jiang, M., Jiang, Q., Jiang, X., Jiménez, A., Jin, M., Jin, S., Joe, C. O., Johansen, T., Johnson, D. E., Johnson, G. V. W., Jones, N. L., Joseph, B., Joseph, S. K., Joubert, A. M., Juhász, G., Juillerat-Jeanneret, L., Jung, C. H., Jung, Y. K., Kaarniranta, K., Kaasik, A., Kabuta, T., Kadowaki, M., Kagedal, K., Kamada, Y., Kaminskyy, V. O., Kampinga, H. H., Kanamori, H., Kang, C., Kang, K. B., Il Kang, K., Kang, R., Kang, Y. A., Kanki, T., Kanneganti, T. D., Kanno, H., Kanthasamy, A. G., Kanthasamy, A., Karantza, V., Kaushal, G. P., Kaushik, S., Kawazoe, Y., Ke, P. Y., Kehrl, J. H., Kelekar, A., Kerkhoff, C., Kessel, D. H., Khalil, H., Kiel, J. A. K. W., Kiger, A. A., Kihara, A., Kim, D. R., Kim, D. H., Kim, D. H., Kim, E. K., Kim, H. R., Kim, J. S., Kim, J. H., Kim, J. C., Kim, J. K., Kim, P. K., Kim, S. W., Kim, Y. S., Kim, Y., Kimchi, A., Kimmelman, A. C., King, J. S., Kinsella, T. J., Kirkin, V., Kirshenbaum, L. A., Kitamoto, K., Kitazato, K., Klein, L., Klimecki, W. T., Klucken, J., Knecht, E., Ko, B. C. B., Koch, J. C., Koga, H., Koh, J. Y., Koh, Y. H., Koike, M., Komatsu, M., Kominami, E., Kong, H. J., Kong, W. J., Korolchuk, V. I., Kotake, Y., Koukourakis, M. I., Kouri Flores, J. B., Kovács, A. L., Kraft, C., Krainc, D., Krämer, H., Kretz-Remy, C., Krichevsky, A. M., Kroemer, G., Krüger, R., Krut, O., Ktistakis, N. T., Kuan, C. Y., Kucharczyk, R., Kumar, A., Kumar, R., Kumar, S., Kundu, M., Kung, H. J., Kurz, T., Kwon, H. J., La Spada, A. R., Lafont, F., Lamark, T., Landry, J., Lane, J. D., Lapaquette, P., Laporte, J. F., László, L., Lavandero, S., Lavoie, J. N., Layfield, R., Lazo, P. A., Le, W., Le Cam, L., Ledbetter, D. J., Lee, A. J. X., Lee, B. W., Lee, G. M., Lee, J., Lee, J. H., Lee, M., Lee, M. S., Lee, S. H., Leeuwenburgh, C., Legembre, P., Legouis, R., Lehmann, M., Lei, H. Y., Lei, Q. Y., Leib, D. A., Leiro, J., Lemasters, J. J., Lemoine, A., Lesniak, M. S., Lev, D., Levenson, V. V., Levine, B., Levy, E., Li, F., Li, J. L., Li, L., Li, S., Li, W., Li, X. J., Li, Y. B., Li, Y. P., Liang, C., Liang, Q., Liao, Y. F., Liberski, P. P., Lieberman, A., Lim, H. J., Lim, K. L., Lim, K., Lin, C. F., Lin, F. C., Lin, J., Lin, J. D., Lin, K., Lin, W. W., Lin, W. C., Lin, Y. L., Linden, R., Lingor, P., Lippincott-Schwartz, J., Lisanti, M. P., Liton, P. B., Liu, B., Liu, C. F., Liu, K., Liu, L., Liu, Q. A., Liu, W., Liu, Y. C., Liu, Y., Lockshin, R. A., Lok, C. N., Lonial, S., Loos, B., Lopez-Berestein, G., López-Otín, C., Lossi, L., Lotze, M. T., Lõw, P., Lu, B., Lu, B., Lu, B., Lu, Z., Luciano, F., Lukacs, N. W., Lund, A. H., Lynch-Day, M. A., Ma, Y., Macian, F., MacKeigan, J. P., Macleod, K. F., Madeo, F., Maiuri, L., Maiuri, M. C., Malagoli, D., Malicdan, M. C. V., Malorni, W., Man, N., Mandelkow, E. M., Manon, S., Manov, I., Mao, K., Mao, X., Mao, Z., Marambaud, P., Marazziti, D., Marcel, Y. L., Marchbank, K., Marchetti, P., Marciniak, S. J., Marcondes, M., Mardi, M., Marfe, G., Mariño, G., Markaki, M., Marten, M. R., Martin, S. J., Martinand-Mari, C., Martinet, W., Martinez-Vicente, M., Masini, M., Matarrese, P., Matsuo, S., Matteoni, R., Mayer, A., Mazure, N. M., McConkey, D. J., McConnell, M. J., McDermott, C., McDonald, C., McInerney, G. M., McKenna, S. L., McLaughlin, B. A., McLean, P. J., McMaster, C. R., McQuibban, G. A., Meijer, A. J., Meisler, M. H., Meléndez, A., Melia, T. J., Melino, G., Mena, M. A., Menendez, J. A., Menna-Barreto, R. F. S., Menon, M. B., Menzies, F. M., Mercer, C. A., Merighi, A., Merry, D. E., Meschini, S., Meyer, C. G., Meyer, T. F., Miao, C. Y., Miao, J. Y., Michels, P. A. M., Michiels, C., Mijaljica, D., Milojkovic, A., Minucci, S., Miracco, C., Miranti, C. K., Mitroulis, I., Miyazawa, K., Mizushima, N., Mograbi, B., Mohseni, S., Molero, X., Mollereau, B., Mollinedo, F., Momoi, T., Monastyrska, I., Monick, M. M., Monteiro, M. J., Moore, M. N., Mora, R., Moreau, K., Moreira, P. I., Moriyasu, Y., Moscat, J., Mostowy, S., Mottram, J. C., Motyl, T., Moussa, C. E. H., Müller, S., Muller, S., Münger, K., Münz, C., Murphy, L. O., Murphy, M. E., Musarò, A., Mysorekar, I., Nagata, E., Nagata, K., Nahimana, A., Nair, U., Nakagawa, T., Nakahira, K., Nakano, H., Nakatogawa, H., Nanjundan, M., Naqvi, N. I., Narendra, D. P., Narita, M., Navarro, M., Nawrocki, S. T., Nazarko, T. Y., Nemchenko, A., Netea, M. G., Neufeld, T. P., Ney, P. A., Nezis, I. P., Nguyen, H. P., Nie, D., Nishino, I., Nislow, C., Nixon, R. A., Noda, T., Noegel, A. A., Nogalska, A., Noguchi, S., Notterpek, L., Novak, I., Nozaki, T., Nukina, N., Nürnberger, T., Nyfeler, B., Obara, K., Oberley, T. D., Oddo, S., Ogawa, M., Ohashi, T., Okamoto, K., Oleinick, N. L., Oliver, F. J., Olsen, L. J., Olsson, S., Opota, O., Osborne, T. F., Ostrander, G. K., Otsu, K., Ou, J. H. J., Ouimet, M., Overholtzer, M., Ozpolat, B., Paganetti, P., Pagnini, U., Pallet, N., Palmer, G. E., Palumbo, C., Pan, T., Panaretakis, T., Pandey, U. B., Papackova, Z., Papassideri, I., Paris, I., Park, J., Park, O. K., Parys, J. B., Parzych, K. R., Patschan, S., Patterson, C., Pattingre, S., Pawelek, J. M., Peng, J., Perlmutter, D. H., Perrotta, I., Perry, G., Pervaiz, S., Peter, M., Peters, G. J., Petersen, M., Petrovski, G., Phang, J. M., Piacentini, M., Pierre, P., Pierrefite-Carle, V., Pierron, G., Pinkas-Kramarski, R., Piras, A., Piri, N., Platanias, L. C., Pöggeler, S., Poirot, M., Poletti, A., Poüs, C., Pozuelo-Rubio, M., Prætorius-Ibba, M., Prasad, A., Prescott, M., Priault, M., Produit-Zengaffinen, N., Progulske-Fox, A., Proikas-Cezanne, T., Przedborski, S., Przyklenk, K., Puertollano, R., Puyal, J., Qian, S. B., Qin, L., Qin, Z. H., Quaggin, S. E., Raben, N., Rabinowich, H., Rabkin, S. W., Rahman, I., Rami, A., Ramm, G., Randall, G., Randow, F., Rao, V. A., Rathmell, J. C., Ravikumar, B., Ray, S. K., Reed, B. H., Reed, J. 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X., Zorzano, A., Zschocke, J. & Zuckerbraun, B., Apr 1 2012, In: Autophagy. 8, 4, p. 445-544 100 p.

    Research output: Contribution to journal › Article › peer-review

    2949 Scopus citations

  • Hyperammonemia-mediated autophagy in skeletal muscle contributes to sarcopenia of cirrhosis

    Qiu, J., Tsien, C., Thapalaya, S., Narayanan, A., Weihl, C. C., Ching, J. K., Eghtesad, B., Singh, K., Fu, X., Dubyak, G., Mcdonald, C., Almasan, A., Hazen, S. L., Naga Prasad, S. V. & Dasarathy, S., Oct 15 2012, In: American Journal of Physiology - Endocrinology and Metabolism. 303, 8, p. E983-E993

    Research output: Contribution to journal › Article › peer-review

    Open Access
    177 Scopus citations

  • International workshop on assessment of upper limb function in Duchenne Muscular Dystrophy. Rome, 15-16 February 2012

    Mercuri, E., McDonald, C., Mayhew, A., Florence, J., Mazzone, E., Bianco, F., Decostre, V., Servais, L., Ricotti, V., Goemans, N. & Vroom, E., Nov 2012, In: Neuromuscular Disorders. 22, 11, p. 1025-1028 4 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    31 Scopus citations

  • Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy

    Harms, M. B., Ori-McKenney, K. M., Scoto, M., Tuck, E. P., Bell, S., Ma, D., Masi, S., Allred, P., Al-Lozi, M., Reilly, M. M., Miller, L. J., Jani-Acsadi, A., Pestronk, A., Shy, M. E., Muntoni, F., Vallee, R. B. & Baloh, R. H., May 29 2012, In: Neurology. 78, 22, p. 1714-1720 7 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    175 Scopus citations

  • Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa

    Van der Ploeg, A. T., Barohn, R., Carlson, L., Charrow, J., Clemens, P. R., Hopkin, R. J., Kishnani, P. S., Laforêt, P., Morgan, C., Nations, S., Pestronk, A., Plotkin, H., Rosenbloom, B. E., Sims, K. B. & Tsao, E., Nov 2012, In: Molecular genetics and metabolism. 107, 3, p. 456-461 6 p.

    Research output: Contribution to journal › Article › peer-review

    103 Scopus citations

  • Pentoxifylline as a rescue treatment for DMD: A randomized double-blind clinical trial

    Escolar, D. M., Zimmerman, A., Bertorini, T., Clemens, P. R., Connolly, A. M., Mesa, L., Gorni, K., Kornberg, A., Kolski, H., Kuntz, N., Nevo, Y., Tesi-Rocha, C., Nagaraju, K., Rayavarapu, S., Hache, L. P., Mayhew, J. E., Florence, J., Hu, F., Arrieta, A. & Henricson, E. & 2 others, Leshner, R. T. & Mah, J. K., Mar 20 2012, In: Neurology. 78, 12, p. 904-913 10 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    26 Scopus citations

  • Physical therapy evaluation and management in neuromuscular diseases

    Johnson, L. B., Florence, J. M. & Abresch, R. T., Aug 2012, In: Physical Medicine and Rehabilitation Clinics of North America. 23, 3, p. 633-651 19 p.

    Research output: Contribution to journal › Review article › peer-review

    13 Scopus citations

  • Posttraumatic mossy fiber sprouting is related to the degree of cortical damage in three mouse strains

    Hunt, R. F., Haselhorst, L. A., Schoch, K. M., Bach, E. C., Rios-Pilier, J., Scheff, S. W., Saatman, K. E. & Smith, B. N., Mar 2012, In: Epilepsy Research. 99, 1-2, p. 167-170 4 p.

    Research output: Contribution to journal › Article › peer-review

    25 Scopus citations

  • Quantitative Ultrasound of Skeletal Muscle: Reliable Measurements of Calibrated Muscle Backscatter from Different Ultrasound Systems

    Zaidman, C. M., Holland, M. R. & Hughes, M. S., Sep 2012, In: Ultrasound in Medicine and Biology. 38, 9, p. 1618-1625 8 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    47 Scopus citations
  • 2011

    Acquired immune and inflammatory myopathies: Pathologic classification

    Pestronk, A., Nov 1 2011, In: Current opinion in rheumatology. 23, 6, p. 595-604 10 p.

    Research output: Contribution to journal › Review article › peer-review

    123 Scopus citations

  • A knock-in mouse model for the R120G mutation of αB-crystallin recapitulates human hereditary myopathy and cataracts

    Andley, U. P., Hamilton, P. D., Ravi, N. & Weihl, C. C., 2011, In: PloS one. 6, 3, e17671.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    60 Scopus citations

  • Anemia, paresthesias, and gait ataxia in a 57-year-old denture wearer

    Sommerville, R. B. & Baloh, R. H., Aug 2011, In: Clinical chemistry. 57, 8, p. 1103-1106 4 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    4 Scopus citations

  • Another VCP interactor: NF is enough

    Weihl, C. C., Dec 1 2011, In: Journal of Clinical Investigation. 121, 12, p. 4627-4630 4 p.

    Research output: Contribution to journal › Comment/debate

    Open Access
    8 Scopus citations

  • Assessing upper limb function in nonambulant SMA patients: Development of a new module

    Mazzone, E., Bianco, F., Martinelli, D., Glanzman, A. M., Messina, S., Sanctis, R. D., Main, M., Eagle, M., Florence, J., Krosschell, K., Vasco, G., Pelliccioni, M., Lombardo, M., Pane, M., Finkel, R., Muntoni, F., Bertini, E. & Mercuri, E., Jun 2011, In: Neuromuscular Disorders. 21, 6, p. 406-412 7 p.

    Research output: Contribution to journal › Article › peer-review

    80 Scopus citations

  • CINRG pilot trial of coenzyme Q10 in Steroid-Treated duchenne muscular dystrophy

    Spurney, C. F., Carolina, T. R., Henricson, E., Florence, J., Mayhew, J., Gorni, K., Pasquali, L., Pestronk, A., Martin, G. R., Hu, F., Nie, L., Connolly, A. M. & Escolar, D. M., Aug 2011, In: Muscle and Nerve. 44, 2, p. 174-178 5 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    44 Scopus citations

  • Developmental localization of NMDA receptors, Src and MAP kinases in mouse brain

    Jiang, X., Knox, R., Pathipati, P. & Ferriero, D., Oct 10 2011, In: Neuroscience Letters. 503, 3, p. 215-219 5 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    23 Scopus citations

  • Endolysosomal sorting of ubiquitylated caveolin-1 is regulated by VCP and UBXD1 and impaired by VCP disease mutations

    Ritz, D., Vuk, M., Kirchner, P., Bug, M., Schütz, S., Hayer, A., Bremer, S., Lusk, C., Baloh, R. H., Lee, H., Glatter, T., Gstaiger, M., Aebersold, R., Weihl, C. C. & Meyer, H., Sep 2011, In: Nature Cell Biology. 13, 9, p. 1116-1124 9 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    197 Scopus citations

  • Inflammatory demyelinating neuropathies

    Lopate, G. & Pestronk, A., Apr 2011, In: Current Treatment Options in Neurology. 13, 2, p. 131-142 12 p.

    Research output: Contribution to journal › Review article › peer-review

    9 Scopus citations

  • Inputs to the midbrain dopaminergic complex in the rat, with emphasis on extended amygdala-recipient sectors

    Zahm, D. S., Cheng, A. Y., Lee, T. J., Ghobadi, C. W., Schwartz, Z. M., Geisler, S., Parsely, K. P., Gruber, C. & Veh, R. W., Nov 1 2011, In: Journal of Comparative Neurology. 519, 16, p. 3159-3188 30 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    52 Scopus citations

  • Nonsense mutation-associated Becker muscular dystrophy: Interplay between exon definition and splicing regulatory elements within the DMD gene

    Flanigan, K. M., Dunn, D. M., Von Niederhausern, A., Soltanzadeh, P., Howard, M. T., Sampson, J. B., Swoboda, K. J., Bromberg, M. B., Mendell, J. R., Taylor, L. E., Anderson, C. B., Pestronk, A., Florence, J. M., Connolly, A. M., Mathews, K. D., Wong, B., Finkel, R. S., Bonnemann, C. G., Day, J. W. & McDonald, C. & 1 others, Weiss, R. B., Mar 2011, In: Human mutation. 32, 3, p. 299-308 10 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    100 Scopus citations

  • Novel GNE mutations in two phenotypically distinct HIBM2 patients

    Weihl, C. C., Miller, S. E., Zaidman, C. M., Pestronk, A., Baloh, R. H. & Al-Lozi, M., Feb 2011, In: Neuromuscular Disorders. 21, 2, p. 102-105 4 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    14 Scopus citations

  • Palliative care services in families of males with Duchenne muscular dystrophy

    Arias, R., Andrews, J., Pandya, S., Pettit, K., Trout, C., Apkon, S., Karwoski, J., Cunniff, C., Matthews, D., Miller, T., Davis, M. F. & John Meaney, F., Jul 2011, In: Muscle and Nerve. 44, 1, p. 93-101 9 p.

    Research output: Contribution to journal › Article › peer-review

    35 Scopus citations

  • Phase II screening trial of lithium carbonate in amyotrophic lateral sclerosis: Examining a more efficient trial design

    Miller, R. G., Moore, D. H., Forshew, D. A., Katz, J. S., Barohn, R. J., Valan, M., Bromberg, M. B., Goslin, K. L., Graves, M. C., McCluskey, L. F., McVey, A. L., Mozaffar, T., Florence, J. M., Pestronk, A., Ross, M., Simpson, E. P. & Appel, S. H., Sep 6 2011, In: Neurology. 77, 10, p. 973-979 7 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    66 Scopus citations

  • Primary amyloidosis presenting as "dropped head syndrome"

    Chuquilin, M. & Al-Lozi, M., Jun 2011, In: Muscle and Nerve. 43, 6, p. 905-909 5 p.

    Research output: Contribution to journal › Article › peer-review

    11 Scopus citations

  • Qualitative and quantitative skeletal muscle ultrasound in late-onset acid maltase deficiency

    Zaidman, C. M., Malkus, E. C., Siener, C., Florence, J., Pestronk, A. & Al-Lozi, M., Sep 2011, In: Muscle and Nerve. 44, 3, p. 418-423 6 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    33 Scopus citations

  • Randomized, blinded trial of weekend vs daily prednisone in Duchenne muscular dystrophy

    Escolar, D. M., Hache, L. P., Clemens, P. R., Cnaan, A., McDonald, C. M., Viswanathan, V., Kornberg, A. J., Bertorini, T. E., Nevo, Y., Lotze, T., Pestronk, A., Ryan, M. M., Monasterio, E., Day, J. W., Zimmerman, A., Arrieta, A., Henricson, E., Mayhew, J., Florence, J. & Hu, F. & 1 others, Connolly, A. M., Aug 2 2011, In: Neurology. 77, 5, p. 444-452 9 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    141 Scopus citations

  • Skeletal muscle abnormalities and genetic factors related to vertical talus

    Merrill, L. J., Gurnett, C. A., Connolly, A. M., Pestronk, A. & Dobbs, M. B., Apr 2011, In: Clinical orthopaedics and related research. 469, 4, p. 1167-1174 8 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    27 Scopus citations

  • Ultrasound of Muscular Dystrophies, Myopathies, and Muscle Pathology

    Zaidman, C. M., Mar 16 2011, Neuromuscular Ultrasound. Elsevier, p. 131-149 19 p.

    Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

    3 Scopus citations

  • Valosin containing protein associated fronto-temporal lobar degeneration: Clinical presentation, pathologic features and pathogenesis

    Weihl, C. C., May 2011, In: Current Alzheimer Research. 8, 3, p. 252-260 9 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    37 Scopus citations
  • 2010

    A Genome-wide Drosophila screen for heat nociception identifies α2δ3 as an evolutionarily conserved pain gene

    Neely, G. G., Hess, A., Costigan, M., Keene, A. C., Goulas, S., Langeslag, M., Griffin, R. S., Belfer, I., Dai, F., Smith, S. B., Diatchenko, L., Gupta, V., Xia, C. P., Amann, S., Kreitz, S., Heindl-Erdmann, C., Wolz, S., Ly, C. V., Arora, S. & Sarangi, R. & 22 others, Dan, D., Novatchkova, M., Rosenzweig, M., Gibson, D. G., Truong, D., Schramek, D., Zoranovic, T., Cronin, S. J. F., Angjeli, B., Brune, K., Dietzl, G., Maixner, W., Meixner, A., Thomas, W., Pospisilik, J. A., Alenius, M., Kress, M., Subramaniam, S., Garrity, P. A., Bellen, H. J., Woolf, C. J. & Penninger, J. M., Nov 12 2010, In: Cell. 143, 4, p. 628-638 11 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    250 Scopus citations

  • ALS-linked mutant superoxide dismutase 1 (SOD1) alters mitochondrial protein composition and decreases protein import

    Li, Q., Velde, C. V., Israelson, A., Xie, J., Bailey, A. O., Dong, M. Q., Chun, S. J., Roy, T., Winer, L., Yates, J. R., Capaldi, R. A., Cleveland, D. W. & Miller, T. M., Dec 7 2010, In: Proceedings of the National Academy of Sciences of the United States of America. 107, 49, p. 21146-21151 6 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    141 Scopus citations

  • A randomized study of alglucosidase alfa in late-onset Pompe's disease

    Van Der Ploeg, A. T., Clemens, P. R., Corzo, D., Escolar, D. M., Florence, J., Groeneveld, G. J., Herson, S., Kishnani, P. S., Laforet, P., Lake, S. L., Lange, D. J., Leshner, R. T., Mayhew, J. E., Morgan, C., Nozaki, K., Park, D. J., Pestronk, A., Rosenbloom, B., Skrinar, A. & Van Capelle, C. I. & 3 others, Van Der Beek, N. A., Wasserstein, M. & Zivkovic, S. A., Apr 15 2010, In: New England Journal of Medicine. 362, 15, p. 1396-1406 11 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    628 Scopus citations

  • Association of self-reported painful symptoms with clinical and neurophysiologic signs in HIV-associated sensory neuropathy

    Robinson-Papp, J., Morgello, S., Vaida, F., Fitzsimons, C., Simpson, D. M., Elliott, K. J., Al-Lozi, M., Gelman, B. B., Clifford, D., Marra, C. M., McCutchan, J. A., Atkinson, J. H., Dworkin, R. H., Grant, I. & Ellis, R., Dec 2010, In: Pain. 151, 3, p. 732-736 5 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    38 Scopus citations

  • Cerebrovascular findings in an adult with cyanotic congenital heart disease

    Sommerville, R. B., Oct 26 2010, In: Neurology. 75, 17, p. 1570 1 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Clinical and genetic characterization of manifesting carriers of DMD mutations

    Soltanzadeh, P., Friez, M. J., Dunn, D., von Niederhausern, A., Gurvich, O. L., Swoboda, K. J., Sampson, J. B., Pestronk, A., Connolly, A. M., Florence, J. M., Finkel, R. S., Bönnemann, C. G., Medne, L., Mendell, J. R., Mathews, K. D., Wong, B. L., Sussman, M. D., Zonana, J., Kovak, K. & Gospe, S. M. & 5 others, Gappmaier, E., Taylor, L. E., Howard, M. T., Weiss, R. B. & Flanigan, K. M., Aug 2010, In: Neuromuscular Disorders. 20, 8, p. 499-504 6 p.

    Research output: Contribution to journal › Article › peer-review

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