Section of Neuromuscular Medicine

2013

Development of the Performance of the Upper Limb module for Duchenne muscular dystrophy

Mayhew, A., Mazzone, E. S., Eagle, M., Duong, T., Ash, M., Decostre, V., Vandenhauwe, M., Klingels, K., Florence, J., Main, M., Bianco, F., Henrikson, E., Servais, L., Campion, G., Vroom, E., Ricotti, V., Goemans, N., Mcdonald, C. & Mercuri, E., Nov 2013, In: Developmental Medicine and Child Neurology. 55, 11, p. 1038-1045 8 p.

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

Open Access

182 Scopus citations

Diagnosis and evaluation of a patient with rapidly progressive dementia.

Bucelli, R. C. & Ances, B. M., 2013, In: Missouri Medicine. 110, 5, p. 422-428 7 p.

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

18 Scopus citations

Direct intraventricular delivery of drugs to the rodent central nervous system.

DeVos, S. L. & Miller, T. M., 2013, In: Journal of visualized experiments : JoVE. 75, p. e50326

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

Open Access

148 Scopus citations

Enhanced NMDA receptor tyrosine phosphorylation and increased brain injury following neonatal hypoxia-ischemia in mice with neuronal Fyn overexpression

Knox, R., Zhao, C., Miguel-Perez, D., Wang, S., Yuan, J., Ferriero, D. & Jiang, X., Mar 2013, In: Neurobiology of Disease. 51, p. 113-119 7 p.

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

Open Access

52 Scopus citations

Etravirine in CSF is highly protein bound

Nguyen, A., Rossi, S., Croteau, D., Best, B. M., Clifford, D., Collier, A. C., Gelman, B., Marra, C., Mcarthur, J., Mccutchan, J. A., Morgello, S., Simpson, D., Ellis, R. J., Grant, I., Capparelli, E., Letendre, S., Abramson, I., Al-lozi, M., Atkinson, J. H. & Fennema-notestine, C. & 16 others, Gamst, A. C., Heaton, R. K., Marcotte, T. D., Smith, D. M., Taylor, M. J., Theilmann, R., Vaida, F., Paul woods, S., Cushman, C., Dawson, M., Franklin, D., Jones, T., Lewis, K., Mintz, L., Teshome, M. & Toperoff, W., May 2013, In: Journal of Antimicrobial Chemotherapy. 68, 5, p. 1161-1168 8 p., dks517.

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

Open Access

25 Scopus citations

Heparan sulfate proteoglycans mediate internalization and propagation of specific proteopathic seeds

Holmes, B. B., DeVos, S. L., Kfoury, N., Li, M., Jacks, R., Yanamandra, K., Ouidja, M. O., Brodsky, F. M., Marasa, J., Bagchi, D. P., Kotzbauer, P. T., Miller, T. M., Papy-Garcia, D. & Diamond, M. I., Aug 13 2013, In: Proceedings of the National Academy of Sciences of the United States of America. 110, 33, p. E3138-E3147

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

Open Access

661 Scopus citations

Increased autophagy accelerates colchicine-induced muscle toxicity

Ching, J. K., Ju, J. S., Pittman, S. K., Margeta, M. & Weihl, C. C., Dec 2013, In: Autophagy. 9, 12, p. 2115-2125 11 p.

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

Open Access

35 Scopus citations

Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis

Harms, M. B., Cady, J., Zaidman, C., Cooper, P., Bali, T., Allred, P., Cruchaga, C., Baughn, M., Libby, R. T., Pestronk, A., Goate, A., Ravits, J. & Baloh, R. H., Sep 2013, In: Neurobiology of Aging. 34, 9, p. 2234.e13-2234.e19

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

Open Access

62 Scopus citations

LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy

Flanigan, K. M., Ceco, E., Lamar, K. M., Kaminoh, Y., Dunn, D. M., Mendell, J. R., King, W. M., Pestronk, A., Florence, J. M., Mathews, K. D., Finkel, R. S., Swoboda, K. J., Gappmaier, E., Howard, M. T., Day, J. W., McDonald, C., McNally, E. M. & Weiss, R. B., Apr 2013, In: Annals of neurology. 73, 4, p. 481-488 8 p.

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

Open Access

186 Scopus citations

Management of amyotrophic lateral sclerosis.

Bali, T. & Miller, T. M., 2013, In: Missouri Medicine. 110, 5, p. 417-421 5 p.

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

9 Scopus citations

Method for widespread microRNA-155 inhibition prolongs survival in ALS-model mice

Koval, E. D., Shaner, C., Zhang, P., Du Maine, X., Fischer, K., Tay, J., Nelson Chau, B., Wu, G. F. & Miller, T. M., Oct 2013, In: Human molecular genetics. 22, 20, p. 4127-4135 9 p., ddt261.

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

Open Access

190 Scopus citations

Monitoring Autophagy in the Treatment of Protein Aggregate Diseases: Steps Toward Identifying Autophagic Biomarkers

Weihl, C. C., Jul 2013, In: Neurotherapeutics. 10, 3, p. 383-390 8 p.

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

Open Access

15 Scopus citations

Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: Results from the Muscular Dystrophy Association DMD Clinical Research Network

Connolly, A. M., Florence, J. M., Cradock, M. M., Malkus, E. C., Schierbecker, J. R., Siener, C. A., Wulf, C. O., Anand, P., Golumbek, P. T., Zaidman, C. M., Philip Miller, J., Lowes, L. P., Alfano, L. N., Viollet-Callendret, L., Flanigan, K. M., Mendell, J. R., McDonald, C. M., Goude, E., Johnson, L. & Nicorici, A. & 12 others, Karachunski, P. I., Day, J. W., Dalton, J. C., Farber, J. M., Buser, K. K., Darras, B. T., Kang, P. B., Riley, S. O., Shriber, E., Parad, R., Bushby, K. & Eagle, M., Jul 2013, In: Neuromuscular Disorders. 23, 7, p. 529-539 11 p.

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

Open Access

91 Scopus citations

Motor neuron involvement in multisystem proteinopathy: Implications for ALS

Benatar, M., Wuu, J., Fernandez, C., Weihl, C. C., Katzen, H., Steele, J., Oskarsson, B. & Taylor, J. P., May 14 2013, In: Neurology. 80, 20, p. 1874-1880 7 p.

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

Open Access

81 Scopus citations

mTOR dysfunction contributes to vacuolar pathology and weakness in valosin-containing protein associated inclusion body myopathy

Ching, J. K., Elizabeth, S. V., Ju, J. S., Lusk, C., Pittman, S. K. & Weihl, C. C., Mar 2013, In: Human molecular genetics. 22, 6, p. 1167-1179 13 p.

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

Open Access

59 Scopus citations

Multifocal radiculoneuropathy during ipilimumab treatment of melanoma

Manousakis, G., Koch, J., Sommerville, R. B., El-Dokla, A., Harms, M. B., Al-Lozi, M. T., Schmidt, R. E. & Pestronk, A., Sep 2013, In: Muscle and Nerve. 48, 3, p. 440-444 5 p.

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

Open Access

62 Scopus citations

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

Kim, H. J., Kim, N. C., Wang, Y. D., Scarborough, E. A., Moore, J., Diaz, Z., MacLea, K. S., Freibaum, B., Li, S., Molliex, A., Kanagaraj, A. P., Carter, R., Boylan, K. B., Wojtas, A. M., Rademakers, R., Pinkus, J. L., Greenberg, S. A., Trojanowski, J. Q., Traynor, B. J. & Smith, B. N. & 17 others, Topp, S., Gkazi, A. S., Miller, J., Shaw, C. E., Kottlors, M., Kirschner, J., Pestronk, A., Li, Y. R., Ford, A. F., Gitler, A. D., Benatar, M., King, O. D., Kimonis, V. E., Ross, E. D., Weihl, C. C., Shorter, J. & Taylor, J. P., Mar 28 2013, In: Nature. 495, 7442, p. 467-473 7 p.

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

Open Access

1166 Scopus citations

Newborn brachial plexus palsy: Evaluation of severity using quantitative ultrasound of muscle

Zaidman, C. M., Holland, M. R., Noetzel, M. J., Park, T. S. & Pestronk, A., Feb 2013, In: Muscle and Nerve. 47, 2, p. 246-254 9 p.

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

12 Scopus citations

P62 expression and autophagy in αB-crystallin R120G mutant knock-in mouse model of hereditary cataract

Wignes, J. A., Goldman, J. W., Weihl, C. C., Bartley, M. G. & Andley, U. P., Oct 2013, In: Experimental eye research. 115, p. 263-273 11 p.

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

Open Access

47 Scopus citations

RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia

Zu, T., Liu, Y., Bañez-Coronel, M., Reid, T., Pletnikova, O., Lewis, J., Miller, T. M., Harms, M. B., Falchook, A. E., Subramony, S. H., Ostrow, L. W., Rothstein, J. D., Troncoso, J. C. & Ranum, L. P. W., Dec 17 2013, In: Proceedings of the National Academy of Sciences of the United States of America. 110, 51, p. E4968-E4977

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

Open Access

621 Scopus citations

Rapamycin-induced autophagy aggravates pathology and weakness in a mouse model of VCP-associated myopathy

Ching, J. K. & Weihl, C. C., May 2013, In: Autophagy. 9, 5, p. 799-800 2 p.

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

Open Access

34 Scopus citations

Rehabilitation in muscular dystrophy

Florence, J. M., Dec 1 2013, Muscular Dystrophy: Causes and Management. Nova Science Publishers, Inc., p. 357-366 10 p.

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

Role of magnetic resonance imaging, cerebrospinal fluid, and electroencephalogram in diagnosis of sporadic Creutzfeldt-Jakob disease

Wang, L. H., Bucelli, R. C., Patrick, E., Rajderkar, D., Alvarez, E., Lim, M. M., Debruin, G., Sharma, V., Dahiya, S., Schmidt, R. E., Benzinger, T. S., Ward, B. A. & Ances, B. M., Feb 2013, In: Journal of Neurology. 260, 2, p. 498-506 9 p.

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

Open Access

31 Scopus citations

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

95 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

259 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

262 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

145 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

71 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

134 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

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

2939 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

176 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

173 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.

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101 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.

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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