Recent Publications

LeDoux MS. ATP1A3-Associated Paroxysmal Dystonia. Tremor Other Hyperkinet Mov (N Y). 2024 Dec 17;14:61. 

 

LeDoux MS. Zinc gluconate for Wilson disease. Clin Park Relat Disord. 2024 Oct 5;11:100272. 

 

Beylergil SB, Mukunda KN, Elkasaby M, Perlmutter JS, Factor S, Bäumer T, Feurestein J, Shelton E, Bellows S, Jankovic J, Mahajan A, Wamer-Rosen T, Reich SG, Shukla AW, Malaty I, Espay A, Duque K, LeDoux MS, Saunders-Pullman R, Leaver K, Frank S, Pantelyat A, Fung V, Richardson SP, Berman B, Stover N, Deik A, Ondo W, Groth C, Jinnah HA, Shaikh AG. Tremor in cervical dystonia. Dystonia. 2024;3:11309.

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LeDoux MS. Polymerase I as a Target for Treating Neurodegenerative Disorders. Biomedicines. 2024 May 15;12(5):1092.

 

Reilmann R, Anderson KE, Feigin A, Tabrizi SJ, Leavitt BR, Stout JC, Piccini P, Schubert R, Loupe P, Wickenberg A, Borowsky B, Rynkowski G, Volkinshtein R, Li T, Savola JM, Hayden M, Gordon MF; LEGATO-HD Study Group. Safety and efficacy of laquinimod for Huntington's disease (LEGATO-HD): a multicentre, randomised, double-blind, placebo-controlled, phase 2 study. Lancet Neurol. 2024 Mar;23(3):243-255.

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Boz D, Kilic-Berkmen G, Perlmutter JS, Norris SA, Wright LJ, Klein C, Bäumer T, Löns S, Feuerstein JS, Mahajan A, Wagle-Shukla A, Malaty I, LeDoux MS, Ondo W, Pantelyat A, Frank S, Saunders-Pullman R, Jinnah HA. An Empirical Comparison of Commonly Used Universal Rating Scales for Dystonia. Mov Disord Clin Pract. 2023 Nov 12;10(12):1777-1786.

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Comella CL, Jankovic J, Hauser RA, Patel AT, Banach MD, Ehler E, Vitarella D, Rubio RG, Gross TM; ASPEN-1 Study Group. Efficacy and Safety of DaxibotulinumtoxinA for Injection in Cervical Dystonia: ASPEN-1 Phase 3 Randomized Controlled Trial. Neurology. 2024 Feb 27;102(4)

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Moss T, LeDoux MS, Crane-Robinson C. HMG-boxes, ribosomopathies and neurodegenerative disease. Front Genet. 2023 Aug 3;14:1225832.

 

Forrest MP, Dos Santos M, Piguel NH, Wang YZ, Hawkins NA, Bagchi VA, Dionisio LE, Yoon S, Simkin D, Martin-de-Saavedra MD, Gao R, Horan KE, George AL Jr, LeDoux MS, Kearney JA, Savas JN, Penzes P. Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub. Nat Commun. 2023 Feb 17;14(1):825.

 

Hori RT, Moshahid Khan M, Xiao J, Hargrove PW, Moss T, LeDoux MS. Behavioral and molecular effects of Ubtf knockout and knockdown in mice. Brain Res. 2022 Oct 15;1793:148053.

 

Tremblay MG, Sibai DS, Valere M, Mars JC, Lessard F, Hori RT, Khan MM, Stefanovsky VY, LeDoux MS, Moss T. Ribosomal DNA promoter recognition is determined in vivo by cooperation between UBTF1 and SL1 and is compromised in the UBTF-E210K neuroregression syndrome. PLoS Genet. 2022 18(2): e1009644.

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Kilic-Berkmen G, Pirio Richardson S, Perlmutter JS, Hallett M, Klein C, Wagle-Shukla A, Malaty IA, Reich SG, Berman BD, Feuerstein J, Vidailhet M, Roze E, Jankovic J, Mahajan A, Espay AJ, Barbano RL, LeDoux MS, Pantelyat A, Frank S,Stover N, Berardelli A, Leegwater-Kim J, Defazio G, Norris SA, Jinnah HA; Dystonia Coalition Investigators. Current Guidelines for Classifying and Diagnosing Cervical Dystonia: Empirical Evidence and Recommendations. Mov Disord Clin Pract. 2021 9(2):183-190.

 

LeDoux MS. No Neuron Operates in Isolation. Neurology. 2022 Mar 8;98(10):389-390.

 

LeDoux MS, Xiao J. Palmaris Brevis Syndrome: A Treatable Pseudodystonia. Tremor Other Hyperkinet Mov (N Y). 2021 11:45.

 

Neilson DE, Zech M, Hufnagel RB, Slone J, Wang X, Homan S, Gutzwiller LM, Leslie EJ, Leslie ND, Xiao J, Hedera P, LeDoux MS, Gebelein B, Wilbert F, Eckenweiler M, Winkelmann J, Gilbert DL, Huang T. A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia. Mov Disord. 2022 37(2):375-383.

 

Scorr LM, Factor SA, Parra SP, Kaye R, Paniello RC, Norris SA, Perlmutter JS, Baumer T, Usnich T, Berman BD, Mailly M, Roze E, Vidailhet M, Jankovic J, LeDoux MS, Barbano R, Chang FCF, Fung VSC, Pirio Richardson S, Blitzer A, Jinnah HA. Oromandibular Dystonia: A Clinical Examination of 2,020 Cases. Front Neurol.

2021 12:700714.

 

Parkinson Study Group SURE-PD3 Investigators, Schwarzschild MA, Ascherio A, Casaceli C, Curhan GC, Fitzgerald R, Kamp C, Lungu C, Macklin EA, Marek K, Mozaffarian D, Oakes D, Rudolph A, Shoulson I, Videnovic A, Scott B, Gauger L, Aldred J, Bixby M, Ciccarello J, Gunzler SA, Henchcliffe C, Brodsky M, Keith K, Hauser RA, Goetz C, LeDoux MS, Hinson V, Kumar R, Espay AJ, Jimenez-Shahed J, Hunter C, Christine C, Daley A, Leehey M, de Marcaida JA, Friedman JH, Hung A, Bwala G, Litvan I, Simon DK, Simuni T, Poon C, Schiess MC, Chou K, Park A, Bhatti D, Peterson C, Criswell SR, Rosenthal L, Durphy J, Shill HA, Mehta SH, Ahmed A, Deik AF, Fang JY, Stover N, Zhang L, Dewey RB Jr, Gerald A, Boyd JT, Houston E, Suski V, Mosovsky S, Cloud L, Shah BB, Saint-Hilaire M, James R, Zauber SE, Reich S, Shprecher D, Pahwa R, Langhammer A, LaFaver K, LeWitt PA, Kaminski P, Goudreau J, Russell D, Houghton DJ, Laroche A, Thomas K, McGraw M, Mari Z, Serrano C, Blindauer K, Rabin M, Kurlan R, Morgan JC, Soileau M, Ainslie M, Bodis-Wollner I, Schneider RB, Waters C, Ratel AS, Beck CA, Bolger P, Callahan KF, Crotty GF, Klements D, Kostrzebski M, McMahon GM, Pothier L, Waikar SS, Lang A, Mestre T. Effect of Urate-Elevating Inosine on Early Parkinson Disease Progression: The SURE-PD3 Randomized Clinical Trial. JAMA. 2021 326(10):926-939.

 

Sun YV, Li C, Hui Q, Huang Y, Barbano R, Rodriguez R, Malaty IA, Reich S, Bambarger K, Holmes K, Jankovic J, Patel NJ, Roze E, Vidailhet M, Berman BD, LeDoux MS, Espay AJ, Agarwal P, Pirio-Richardson S, Frank SA, Ondo WG, Saunders-Pullman R, Chouinard S, Natividad S, Berardelli A, Pantelyat AY, Brashear A, Fox SH, Kasten M, Kramer UM, Neis M, Baumer T, Loens S, Borsche M, Zittel S, Maurer A, Gelderblom M, Volkmann J, Odorfer T, Kahn AA, Borngraber F, König IR, Cruchaga C, Cotton AC, Kilic-Berkmen G, Freeman A, Factor SA, Scorr L, Bremner JD, Vaccarino V, Quyyumi AA, Klein C, Perlmutter JS, Lohmann K, Jinnah HA. A Multi-center Genome-wide Association Study of Cervical Dystonia. Mov Disord. 2021 36(12):2795-2801.

 

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 89:151-154.

 

Wang M, Sajobi T, Morgante F, Adler C, Agarwal P, Baumer T, Berardelli A, Berman BD, Blumin J, Borsche M, Brashear A, Deik A, Duque K, Espay AJ, Ferrazzano G, Feuerstein J, Fox S, Frank S, Hallett M, Jankovic J, LeDoux MS, Leegwater-Kim J, Mahajan A, Malaty IA, Ondo W, Pantelyat A, Pirio-Richardson S, Roze E, Saunders-Pullman R, Suchowersky O, Truong D, Vidailhet M, Shukla AW, Perlmutter JS, Jinnah HA, Martino D. Predictive modeling of spread in adult-onset isolated dystonia: Key properties and effect of tremor inclusion. Eur J Neurol. 2021 28(12):3999-4009.

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LeDoux MS. Population Prevalence of Deleterious SGCE Variants. Tremor Other Hyperkinet Mov (N Y). 2020 Nov 4;10:50.

 

Prudencio M, Garcia-Moreno H, Jansen-West KR, Al-Shaikh RH, Gendron TF, Heckman MG, Spiegel MR, Carlomagno Y, Daughrity LM, Song Y, Dunmore JA, Byron N, Oskarsson B, Nicholson KA, Staff NP, Gorcenco S, Puschmann A, Lemos J, Januário C, LeDoux MS, Friedman JH, Polke J, Labrum R, Shakkottai V, McLoughlin HS, Paulson HL, Konno T, Onodera O, Ikeuchi T, Tada M, Kakita A, Fryer JD, Karremo C, Gomes I, Caviness JN, Pittelkow MR, Aasly J, Pfeiffer RF, Veerappan V, Eggenberger ER, Freeman WD, Huang JF, Uitti RJ, Wierenga KJ, Marin Collazo IV, Tipton PW, van Gerpen JA, van Blitterswijk M, Bu G, Wszolek ZK, Giunti P, Petrucelli L. Toward allele-specific targeting therapy and pharmacodynamic

marker for spinocerebellar ataxia type 3. Sci Transl Med. 2020 Oct 21;12(566).

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