Publications

  1. Andrews J, Paganoni S, Macklin EA, Chibnik LB, Quintana M, Saville BR, Detry MA, Vestrucci M, Marion J, McGlothlin A, Young E, Chase M, Pothier L, Harkey B, Yu H, Sherman A, Shefner J, Hall M, Kittle G, Connolly MR, Berry JD, D'Agostino D, Tustison E, Giacomelli E, Scirocco E, Alameda G, Locatelli E, Ho D, Quick A, Heitzman D, Ajroud-Driss S, Appel SH, Shroff S, Katz J, Felice K, Maragakis NJ, Simmons Z, Goutman SA, Olney N, Miller T, Fernandes JA, Ilieva H, Jawdat O, Weiss MD, Foster L, Vu T, Ladha S, Owegi MA, Newman DS, Arcila-Londono X, Jackson CE, Swenson A, Heiman-Patterson T, Caress J, Fee D, Peltier A, Lewis R, Rosenfeld J, Walk D, Johnson K, Elliott M, Kasarskis EJ, Rutkove S, McIlduff CE, Bedlack R, Elman L, Goyal NA, Rezania K, Twydell P, Benatar M, Glass J, Cohen JA, Jones V, Zilliox L, Wymer JP, Beydoun SR, Shah J, Pattee GL, Martinez-Thompson J, Nayar S, Granit V, Donohue M, Grossman K, Campbell DJ, Qureshi IA, Cudkowicz ME, Babu S, Writing Committee for the HEALEY ALS Platform Trial//HEALEY ALS Platform Trial Study Group. Verdiperstat in Amyotrophic Lateral Sclerosis: Results From the Randomized HEALEY ALS Platform Trial. JAMA Neurol. 2025 Feb 17 [Epub ahead of print]
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  2. Berry JD, Maragakis NJ, Macklin EA, Chibnik LB, Quintana M, Saville BR, Detry MA, Vestrucci M, Marion J, McGlothlin A, Stommel EW, Chase M, Pothier L, Harkey BA, Yu H, Sherman A, Shefner J, Hall M, Kittle G, Babu S, Andrews J, D'Agostino D, Tustison E, Scirocco E, Giacomelli E, Alameda G, Locatelli E, Ho D, Quick A, Ajroud-Driss S, Katz J, Heitzman D, Appel SH, Shroff S, Felice KJ, Simmons Z, Miller T, Olney N, Weiss MD, Goutman SA, Fernandes JA Jr, Jawdat O, Owegi MA, Foster L, Vu T, Ilieva H, Newman DS, Arcila-Londono X, Jackson C, Ladha S, Heiman-Patterson T, Caress J, Swenson A, Peltier A, Lewis R, Fee D, Elliott M, Bedlack R, Kasarskis EJ, Elman L, Rosenfeld J, Walk D, McIlduff CE, Twydell P, Young E, Johnson K, Rezania K, Goyal NA, Cohen JA, Benatar M, Jones V, Glass J, Shah J, Beydoun SR, Wymer JP, Zilliox L, Nayar S, Pattee GL, Martinez-Thompson J, Rynders A, Evan J, Evan J, Hartford A, Sepassi M, Ho KS, Glanzman R, Greenberg B, Hotchkin MT, Paganoni S, Cudkowicz ME, Writing Committee for the HEALEY ALS Platform Trial//HEALEY ALS Platform Trial Study Group. CNM-Au8 in Amyotrophic Lateral Sclerosis: The HEALEY ALS Platform Trial. JAMA 2025 Feb 17 [Epub ahead of print]
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  3. Shefner JM, Oskarsson B, Macklin EA, Chibnik LB, Quintana M, Saville BR, Detry MA, Vestrucci M, Marion J, McGlothlin A, Heiman-Patterson T, Chase M, Pothier L, Harkey BA, Yu H, Sherman AV, Hall M, Kittle G, Berry JD, Babu S, Andrews J, D'Agostino D, Tustison E, Scirocco E, Giacomelli E, Alameda G, Locatelli E, Ho D, Quick A, Ajroud-Driss S, Katz J, Heitzman D, Appel SH, Shroff S, Felice K, Maragakis NJ, Simmons Z, Miller TM, Olney N, Weiss MD, Goutman SA, Fernandes JA, Jawdat O, Owegi MA, Foster LA, Vu T, Ilieva H, Newman DS, Arcila-Londono X, Jackson CE, Ladha S, Caress JB, Swenson A, Peltier A, Lewis RA, Fee D, Elliott M, Bedlack R, Kasarskis EJ, Elman L, Rosenfeld J, Walk D, McIlduff C, Twydell P, Young E, Johnson K, Rezania K, Goyal NA, Cohen JA, Benatar M, Jones V, Shah J, Beydoun SR, Wymer JP, Zilliox L, Nayar S, Pattee GL, Martinez-Thompson J, Leitner ML, Chen K, Goldberg YP, Cohen Y, Geva M, Hayden MR, Paganoni S, Cudkowicz ME, Writing Committee for the HEALEY ALS Platform Trial//HEALEY ALS Platform Trial Study Group. Pridopidine in Amyotrophic Lateral Sclerosis: The HEALEY ALS Platform Trial. JAMA 2025 Feb 17 [Epub ahead of print]
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  4. Paganoni S, Fournier CN, Macklin EA, Chibnik LB, Quintana M, Saville BR, Detry MA, Vestrucci M, Marion J, McGlothlin A, Ajroud-Driss S, Chase M, Pothier L, Harkey BA, Yu H, Sherman AV, Shefner JM, Hall M, Kittle G, Berry JD, Babu S, Andrews J, Dagostino D, Tustison E, Giacomelli E, Scirocco E, Alameda G, Locatelli E, Ho D, Quick A, Katz J, Heitzman D, Appel SH, Shroff S, Felice K, Maragakis NJ, Simmons Z, Miller TM, Olney N, Weiss MD, Goutman SA, Fernandes JA, Jawdat O, Owegi MA, Foster LA, Vu T, Ilieva H, Newman DS, Arcila-Londono X, Jackson CE, Ladha S, Heiman-Patterson T, Caress JB, Swenson A, Peltier A, Lewis R, Fee D, Elliott M, Bedlack R, Kasarskis EJ, Elman L, Rosenfeld J, Walk D, McIlduff C, Twydell P, Young E, Johnson K, Rezania K, Goyal NA, Cohen JA, Benatar M, Jones V, Glass J, Shah J, Beydoun SR, Wymer JP, Zilliox L, Nayar S, Pattee GL, Martinez-Thompson J, Harvey B, Patel S, Mahoney P, Duda PW, Cudkowicz ME, HEALEY ALS Platform Trial Study Group. Efficacy and Safety of Zilucoplan in Amyotrophic Lateral Sclerosis: A Randomized Clinical Trial. JAMA Netw Open. 2025 Feb 3; 8 (2):e2459058 Epub 2025 Feb 03
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  5. Udine E, Finch NA, DeJesus-Hernandez M, Jackson JL, Baker MC, Saravanaperumal SA, Wieben E, Ebbert MTW, Shah J, Petrucelli L, Rademakers R, Oskarsson B, van Blitterswijk M. Targeted long-read sequencing to quantify methylation of the C9orf72 repeat expansion. Mol Neurodegener. 2024 Dec 21; 19 (1):99
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  6. Engelberg-Cook E, Shah JS, Teixeira da Silva Hucke A, Vera-Garcia DV, Dagher JE, Donahue MH, Belzil VV, Oskarsson B. Prognostic Factors and Epidemiology of Amyotrophic Lateral Sclerosis in Southeastern United States. Mayo Clin Proc Innov Qual Outcomes. 2024 Oct; 8 (5):482-492 Epub 2024 Sept 17
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  7. Mitsumoto H, Jang G, Lee I, Simmons Z, Sherman AV, Heitzman D, Sorenson E, Cheung K, Andrews J, Harms M, Shneider NA, Santella R, Paganoni S, Ajroud-Driss S, Fernandes JAM, Burke KM, Gwathmey K, Habib AA, Maragakis NJ, Walk D, Fournier C, Heiman-Patterson T, Wymer J, Diaz F, Scelsa SN, Elman L, Genge A, Goutman SA, Hayat G, Jawdat O, Johnston WS, Joyce NC, Kasarskis EJ, Kisanuki YY, Lomen-Hoerth C, Pulley MT, Shah JS, Shoesmith C, Zinman L, PLS Natural History Study Group.. Primary lateral sclerosis natural history study - planning, designing, and early enrollment. Amyotroph Lateral Scler Frontotemporal Degener. 2023 Aug; 24 (5-6):394-404 Epub 2022 Dec 28
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  8. Mitsumoto H, Cheung K, Oskarsson B, Andrews HF, Jang GE, Andrews JA, Shah JS, Fernandes JA, McElhiney M, Santella RM. Randomized double-blind personalized N-of-1 clinical trial to test the safety and potential efficacy of TJ-68 for treating muscle cramps in amyotrophic lateral sclerosis (ALS): study protocol for a TJ-68 trial. Trials. 2023 Jul 10; 24 (1):449 Epub 2023 July 10
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  9. Camargo C, Abode-Iyamah K, Shah JS, Bechtle PS, Freeman WD. Comprehensive Perioperative Approach to Complex Spine Deformity Management. Clin Spine Surg. 2022 Aug 1; 35 (7):310-318 Epub 2021 Aug 02
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  10. Munipalli B, Shah JS. Unusual presentation of stiff-person syndrome in a patient with type 1 diabetes mellitus. BMJ Case Rep. 2022 Feb 7; 15 (2) Epub 2022 Feb 07
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  11. Koike Y, Jansen-West KR, Hanna Al-Shaikh R, Carlomagno Y, Song Y, Dunmore JA, LeDoux MS, Friedman JH, Pena AB, Uitti RJ, Zaremba J, van Gerpen JA, Pfeiffer RF, Veerappan V, Aiba I, Hashimoto R, Giles SS, Shah JS, Tipton PW, Huang JF, Wierenga KJ, Aasly J, Fryer JD, Petrucelli L, Wszolek ZK, Prudencio M. Urine levels of the polyglutamine ataxin-3 protein are elevated in patients with spinocerebellar ataxia type 3. Parkinsonism Relat Disord. 2021 Aug; 89:151-154 Epub 2021 July 17
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  12. Oskarsson B, Mauricio EA, Shah JS, Li Z, Rogawski MA. Cortical excitability threshold can be increased by the AMPA blocker Perampanel in amyotrophic lateral sclerosis. Muscle Nerve. 2021 Aug; 64 (2):215-219 Epub 2021 May 27
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  13. Shah J. Electromyography and Neuromuscular Disorders: Clinical-Electrodiagnostic-Ultrasound Correlations, Fourth Edition. J Clin Neurophysiol. 2021 Jul 1; 38 (4):e19
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  14. Shah JS, Pedraza O, Festic E, Oskarsson B. The relationship between ventilatory function and cognitive and behavioral impairment in ALS. Amyotroph Lateral Scler Frontotemporal Degener. 2021; 22 (sup1):62-67
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  15. Shah JS, Rubin DI. Atypical Ulnar Neuropathy Presenting With an Atypical Wartenberg's Sign and Atypical Ultrasound. J Clin Neuromuscul Dis. 2020 Dec; 22 (2):103-104
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  16. Shah JS, Rubin DI, Dimberg EL, Owens CR, Gicalone AR, De Oliveira G, Oskarsson BE. Two Years of Improved Neurological Function With Nusinersen in a 48-Year-Old Patient With Spinal Muscular Atrophy Type 3. Neurologist. 2020 Sep; 25 (5):141-143
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  17. Jackson JL, Finch NA, Baker MC, Kachergus JM, DeJesus-Hernandez M, Pereira K, Christopher E, Prudencio M, Heckman MG, Thompson EA, Dickson DW, Shah J, Oskarsson B, Petrucelli L, Rademakers R, van Blitterswijk M. Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers. Mol Neurodegener. 2020 Jan 30; 15 (1):7
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  18. Harris C, Ali R, Perez-Downes J, Baidoun F, DeLima M, Shah J, Aung W, Makary RF. A Curious Case of Proximal Muscle Weakness with Eosinophilic Polymyositis. Case Rep Rheumatol. 2016; 2016:7810916. Epub 2016 Sep 14.
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