Publications

Recent publications

• Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study
  December 1, 2024
  Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD studyDoody, A., Alfano, L., Diaz-Manera, J., Lowes, L., Mozaffar, T., Mathews, K. D., Weihl, C. C., Wicklund, M., Hung, M., Statland, J. & Johnson, N. E., Dec 2024, In: BMC Neurology. 24, 1, 96.Research output: Contribution to journal › Article › peer-review
• VCP Inhibition Augments NLRP3 Inflammasome Activation
  October 1, 2024
  VCP Inhibition Augments NLRP3 Inflammasome ActivationSharma, A., Dhavale, D. D., Kotzbauer, P. T. & Weihl, C. C., Oct 2024, In: Inflammation. 47, 5, p. 1868-1883 16 p.Research output: Contribution to journal › Article › peer-review
• Ophthalmoparesis as an unusual manifestation of anti-3‑hydroxy-3-methyl-glutaryl-coenzyme A reductase antibody-associated myopathies
  September 1, 2024
  Ophthalmoparesis as an unusual manifestation of anti-3‑hydroxy-3-methyl-glutaryl-coenzyme A reductase antibody-associated myopathiesPutko, B., Pestronk, A., Van Stavern, G. P., Phan, C. L., Beecher, G. & Liewluck, T., Sep 2024, In: Neuromuscular Disorders. 42, p. 1-4 4 p.Research output: Contribution to journal › Article › peer-review
• Augustus Waller's foresight realized: SARM1 in peripheral neuropathies
  August 1, 2024
  Augustus Waller's foresight realized: SARM1 in peripheral neuropathiesGeisler, S., Aug 2024, In: Current Opinion in Neurobiology. 87, 102884.Research output: Contribution to journal › Review article › peer-review
• Immune-mediated myositis following gene therapy for Duchenne muscular dystrophy: a case report
  August 1, 2024
  Immune-mediated myositis following gene therapy for Duchenne muscular dystrophy: a case reportIannaccone, S. T., Cai, C., Rhem, B., Batley, K., Rajaram, V., Greenberg, B. M., Dharia, S. & Zaidman, C. M., Aug 2024, In: Journal of Neurology. 271, 8, p. 5659-5664 6 p.Research output: Contribution to journal › Letter › peer-review
• Prevalence of anti-myelin oligodendrocyte glycoprotein antibodies across neuroinflammatory and neurodegenerative diseases
  June 15, 2024
  Prevalence of anti-myelin oligodendrocyte glycoprotein antibodies across neuroinflammatory and neurodegenerative diseasesTrivedi, R. R., Archambault, A. S., Pavlak, C., Gastaldi, M., Cantoni, C., Ghezzi, L., Cross, A. H., Miller, T. M. & Wu, G. F., Jun 15 2024, In: Journal of the Neurological Sciences. 461, 123041.Research output: Contribution to journal › Article › peer-review
• Seeding activity of human superoxide dismutase 1 aggregates in familial and sporadic amyotrophic lateral sclerosis postmortem neural tissues by real-time quaking-induced conversion
  June 1, 2024
  Seeding activity of human superoxide dismutase 1 aggregates in familial and sporadic amyotrophic lateral sclerosis postmortem neural tissues by real-time quaking-induced conversionMielke, J. K., Klingeborn, M., Schultz, E. P., Markham, E. L., Reese, E. D., Alam, P., Mackenzie, I. R., Ly, C. V., Caughey, B., Cashman, N. R. & Leavens, M. J., Jun 2024, In: Acta Neuropathologica. 147, 1, 100.Research output: Contribution to journal › Article › peer-review
• Correction to: A fluid biomarker reveals loss of TDP-43 splicing repression in presymptomatic ALS–FTD (Nature Medicine, (2024), 30, 2, (382-393), 10.1038/s41591-023-02788-5)
  May 1, 2024
  Correction to: A fluid biomarker reveals loss of TDP-43 splicing repression in presymptomatic ALS–FTD (Nature Medicine, (2024), 30, 2, (382-393), 10.1038/s41591-023-02788-5)Irwin, K. E., Jasin, P., Braunstein, K. E., Sinha, I. R., Garret, M. A., Bowden, K. D., Chang, K., Troncoso, J. C., Moghekar, A., Oh, E. S., Raitcheva, D., Bartlett, D., Miller, T., Berry, J. D., Traynor, B. J., Ling, J. P. & Wong, P. C., May 2024, In: Nature medicine. 30, 5, p. 1504 1 p.Research output: Contribution to journal › Comment/debate
• Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial
  May 1, 2024
  Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trialTawil, R., Wagner, K. R., Hamel, J. I., Leung, D. G., Statland, J. M., Wang, L. H., Genge, A., Sacconi, S., Lochmüller, H., Reyes-Leiva, D., Diaz-Manera, J., Alonso-Perez, J., Muelas, N., Vilchez, J. J., Pestronk, A., Gibson, S., Goyal, N. A., Hayward, L. J., Johnson, N. & LoRusso, S. & 19 others, Freimer, M., Shieh, P. B., Subramony, S. H., van Engelen, B., Kools, J., Leinhard, O. D., Widholm, P., Morabito, C., Moxham, C. M., Cadavid, D., Mellion, M. L., Odueyungbo, A., Tracewell, W. […]
• Management of Select Adverse Events Following Delandistrogene Moxeparvovec Gene Therapy for Patients with Duchenne Muscular Dystrophy
  April 30, 2024
  Management of Select Adverse Events Following Delandistrogene Moxeparvovec Gene Therapy for Patients with Duchenne Muscular DystrophyZaidman, C. M., Goedeker, N. L., Aqul, A. A., Butterfield, R. J., Connolly, A. M., Crystal, R. G., Godwin, K. E., Hor, K. N., Mathews, K. D., Proud, C. M., Kula Smyth, E., Veerapandiyan, A., Watkins, P. B. & Mendell, J. R., Apr 30 2024, In: Journal of neuromuscular diseases. 11, 3, p. 687-699 13 p.Research output: Contribution to journal › Article › peer-review
• Practical Considerations for Delandistrogene Moxeparvovec Gene Therapy in Patients With Duchenne Muscular Dystrophy
  April 1, 2024
  Practical Considerations for Delandistrogene Moxeparvovec Gene Therapy in Patients With Duchenne Muscular DystrophyMendell, J. R., Proud, C., Zaidman, C. M., Mason, S., Darton, E., Wang, S., Wandel, C., Murphy, A. P., Mercuri, E., Muntoni, F. & McDonald, C. M., Apr 2024, In: Pediatric Neurology. 153, p. 11-18 8 p.Research output: Contribution to journal › Article › peer-review
• Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
  April 1, 2024
  Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trialEPIDYS Study Group, Mercuri, E., Vilchez, J. J., Boespflug-Tanguy, O., Zaidman, C. M., Mah, J. K., Goemans, N., Müller-Felber, W., Niks, E. H., Schara-Schmidt, U., Bertini, E., Comi, G. P., Mathews, K. D., Servais, L., Vandenborne, K., Johannsen, J., Messina, S., Spinty, S., McAdam, L. & Selby, K. & 8 others, Byrne, B., Laverty, C. G., Carroll, K., Zardi, G., Cazzaniga, S., Coceani, N., Bettica, P. & McDonald, C. M., Apr 2024, In: The Lancet Neurology. 23, 4, p. 393-403 11 […]
• 272nd ENMC international workshop: 10 Years of progress – revision of the ENMC 2013 diagnostic criteria for inclusion body myositis and clinical trial readiness. 16–18 June 2023, Hoofddorp, The Netherlands
  April 1, 2024
  272nd ENMC international workshop: 10 Years of progress – revision of the ENMC 2013 diagnostic criteria for inclusion body myositis and clinical trial readiness. 16–18 June 2023, Hoofddorp, The Netherlandsthe 272nd ENMC workshop participants, Lilleker, J. B., Naddaf, E., Saris, C. G. J., Schmidt, J., de Visser, M., Weihl, C. C., Alexandersson, H., Alfano, L., Allenbach, Y., Badrising, U., Benveniste, O., Bhai, S., De Bleecker, J., Breeveld, M. C., Chinoy, H., Diederichsen, L., Dimachkie, M., Greenberg, S. & Johari, M. & 13 others, Lilleker, J., Lindgren, U., Lloyd, T., Machado, P., Mozaffar, T., Mischke, R., Needham, M., Nishino, I., Oldfors, […]
• ALS-related p97 R155H mutation disrupts lysophagy in iPSC-derived motor neurons
  March 12, 2024
  ALS-related p97 R155H mutation disrupts lysophagy in iPSC-derived motor neuronsKlickstein, J. A., Johnson, M. A., Antonoudiou, P., Maguire, J., Paulo, J. A., Gygi, S. P., Weihl, C. & Raman, M., Mar 12 2024, In: Stem Cell Reports. 19, 3, p. 366-382 17 p.Research output: Contribution to journal › Article › peer-review
• Translating the ALS Genetic Revolution into Therapies: A Review
  March 1, 2024
  Translating the ALS Genetic Revolution into Therapies: A ReviewMeadows, C., Rau, N. A., Faridi, W. & Ly, C. V., Mar 2024, In: Current Treatment Options in Neurology. 26, 3, p. 35-49 15 p.Research output: Contribution to journal › Review article › peer-review
• Plasma proteomic analysis on neuropathic pain in idiopathic peripheral neuropathy patients
  March 1, 2024
  Plasma proteomic analysis on neuropathic pain in idiopathic peripheral neuropathy patientsvan Doormaal, P. T. C., Thomas, S., Ajroud-Driss, S., Cole, R. N., DeVine, L. R., Dimachkie, M. M., Geisler, S., Freeman, R., Simpson, D. M., Singleton, J. R., Smith, A. G., Stino, A. & Höke, A., Mar 2024, In: Journal of the Peripheral Nervous System. 29, 1, p. 88-96 9 p.Research output: Contribution to journal › Article › peer-review
• A fluid biomarker reveals loss of TDP-43 splicing repression in presymptomatic ALS–FTD
  February 1, 2024
  A fluid biomarker reveals loss of TDP-43 splicing repression in presymptomatic ALS–FTDIrwin, K. E., Jasin, P., Braunstein, K. E., Sinha, I. R., Garret, M. A., Bowden, K. D., Chang, K., Troncoso, J. C., Moghekar, A., Oh, E. S., Raitcheva, D., Bartlett, D., Miller, T., Berry, J. D., Traynor, B. J., Ling, J. P. & Wong, P. C., Feb 2024, In: Nature medicine. 30, 2, p. 382-393 12 p.Research output: Contribution to journal › Article › peer-review
• Tofersen for SOD1 ALS
  January 1, 2024
  Tofersen for SOD1 ALSEverett, W. H. & Bucelli, R. C., 2024, In: Neurodegenerative disease management. 14, 5, p. 149-160 12 p.Research output: Contribution to journal › Review article › peer-review
• Patterns of Clinical Progression among Patients with Autosomal Recessive Limb-Girdle Muscular Dystrophy: A Systematic Review
  December 1, 2023
  Patterns of Clinical Progression among Patients with Autosomal Recessive Limb-Girdle Muscular Dystrophy: A Systematic ReviewCheung, A., Audhya, I. F., Szabo, S. M., Friesen, M., Weihl, C. C. & Gooch, K. L., Dec 1 2023, In: Journal of clinical neuromuscular disease. 25, 2, p. 65-80 16 p.Research output: Contribution to journal › Review article › peer-review
• An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP
  November 2, 2023
  An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCPMah-Som, A. Y., Daw, J., Huynh, D., Wu, M., Creekmore, B. C., Burns, W., Skinner, S. A., Holla, Ø. L., Smeland, M. F., Planes, M., Uguen, K., Redon, S., Bierhals, T., Scholz, T., Denecke, J., Mensah, M. A., Sczakiel, H. L., Tichy, H., Verheyen, S. & Blatterer, J. & 15 others, Schreiner, E., Thies, J., Lam, C., Spaeth, C. G., Pena, L., Ramsey, K., Narayanan, V., Seaver, L. H., Rodriguez, D., Afenjar, A., Burglen, L., Lee, E. B., Chou, T. F., Weihl, C. C. & Shinawi, M. S., Nov 2 2023, […]