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A Novel De Novo Heterozygous SCN4a Mutation Causing Congenital Myopathy, Myotonia and Multiple Congenital Anomalies.

Waldrop M, Amornvit J, Pierson CR, Boue DR, Sahenk Z.

J Neuromuscul Dis. 2019 Oct 8. doi: 10.3233/JND-190425. [Epub ahead of print]


Long-term treatment with eteplirsen in nonambulatory patients with Duchenne muscular dystrophy.

Alfano LN, Charleston JS, Connolly AM, Cripe L, Donoghue C, Dracker R, Dworzak J, Eliopoulos H, Frank DE, Lewis S, Lucas K, Lynch J, Milici AJ, Flynt A, Naughton E, Rodino-Klapac LR, Sahenk Z, Schnell FJ, Young GD, Mendell JR, Lowes LP.

Medicine (Baltimore). 2019 Jun;98(26):e15858. doi: 10.1097/MD.0000000000015858.


Gene Delivery for Limb-Girdle Muscular Dystrophy Type 2D by Isolated Limb Infusion.

Mendell JR, Chicoine LG, Al-Zaidy SA, Sahenk Z, Lehman K, Lowes L, Miller N, Alfano L, Galliers B, Lewis S, Murrey D, Peterson E, Griffin DA, Church K, Cheatham S, Cheatham J, Hogan MJ, Rodino-Klapac LR.

Hum Gene Ther. 2019 Jul;30(7):794-801. doi: 10.1089/hum.2019.006. Epub 2019 Apr 19.


PUMILIO hyperactivity drives premature aging of Norad-deficient mice.

Kopp F, Elguindy MM, Yalvac ME, Zhang H, Chen B, Gillett FA, Lee S, Sivakumar S, Yu H, Xie Y, Mishra P, Sahenk Z, Mendell JT.

Elife. 2019 Feb 8;8. pii: e42650. doi: 10.7554/eLife.42650.


Efficacy of exogenous pyruvate in TremblerJ mouse model of Charcot-Marie-Tooth neuropathy.

Sahenk Z, Yalvac ME, Amornvit J, Arnold WD, Chen L, Shontz KM, Lewis S.

Brain Behav. 2018 Oct;8(10):e01118. doi: 10.1002/brb3.1118. Epub 2018 Sep 21.


Eteplirsen treatment for Duchenne muscular dystrophy: Exon skipping and dystrophin production.

Charleston JS, Schnell FJ, Dworzak J, Donoghue C, Lewis S, Chen L, Young GD, Milici AJ, Voss J, DeAlwis U, Wentworth B, Rodino-Klapac LR, Sahenk Z, Frank D, Mendell JR.

Neurology. 2018 Jun 12;90(24):e2146-e2154. doi: 10.1212/WNL.0000000000005680. Epub 2018 May 11. Erratum in: Neurology. 2018 Sep 25;91(13):637.


AAV1.NT-3 gene therapy increases muscle fiber diameter through activation of mTOR pathway and metabolic remodeling in a CMT mouse model.

Yalvac ME, Amornvit J, Chen L, Shontz KM, Lewis S, Sahenk Z.

Gene Ther. 2018 Apr;25(2):129-138. doi: 10.1038/s41434-018-0009-8. Epub 2018 Mar 9.


Pre-clinical Safety and Off-Target Studies to Support Translation of AAV-Mediated RNAi Therapy for FSHD.

Wallace LM, Saad NY, Pyne NK, Fowler AM, Eidahl JO, Domire JS, Griffin DA, Herman AC, Sahenk Z, Rodino-Klapac LR, Harper SQ.

Mol Ther Methods Clin Dev. 2017 Dec 24;8:121-130. doi: 10.1016/j.omtm.2017.12.005. eCollection 2018 Mar 16.


Impaired regeneration in calpain-3 null muscle is associated with perturbations in mTORC1 signaling and defective mitochondrial biogenesis.

Yalvac ME, Amornvit J, Braganza C, Chen L, Hussain SA, Shontz KM, Montgomery CL, Flanigan KM, Lewis S, Sahenk Z.

Skelet Muscle. 2017 Dec 14;7(1):27. doi: 10.1186/s13395-017-0146-6.


A novel p.T139M mutation in HSPB1 highlighting the phenotypic spectrum in a family.

Amornvit J, Yalvac ME, Chen L, Sahenk Z.

Brain Behav. 2017 Jul 21;7(8):e00774. doi: 10.1002/brb3.774. eCollection 2017 Aug.


Follistatin Gene Therapy for Sporadic Inclusion Body Myositis Improves Functional Outcomes.

Mendell JR, Sahenk Z, Al-Zaidy S, Rodino-Klapac LR, Lowes LP, Alfano LN, Berry K, Miller N, Yalvac M, Dvorchik I, Moore-Clingenpeel M, Flanigan KM, Church K, Shontz K, Curry C, Lewis S, McColly M, Hogan MJ, Kaspar BK.

Mol Ther. 2017 Apr 5;25(4):870-879. doi: 10.1016/j.ymthe.2017.02.015. Epub 2017 Mar 6.


Defective membrane fusion and repair in Anoctamin5-deficient muscular dystrophy.

Griffin DA, Johnson RW, Whitlock JM, Pozsgai ER, Heller KN, Grose WE, Arnold WD, Sahenk Z, Hartzell HC, Rodino-Klapac LR.

Hum Mol Genet. 2016 May 15;25(10):1900-1911. Epub 2016 Feb 23.


Follistatin Gene Therapy Improves Ambulation in Becker Muscular Dystrophy.

Al-Zaidy SA, Sahenk Z, Rodino-Klapac LR, Kaspar B, Mendell JR.

J Neuromuscul Dis. 2015 Sep 2;2(3):185-192.


AAV1.NT-3 gene therapy attenuates spontaneous autoimmune peripheral polyneuropathy.

Yalvac ME, Arnold WD, Braganza C, Chen L, Mendell JR, Sahenk Z.

Gene Ther. 2016 Jan;23(1):95-102. doi: 10.1038/gt.2015.67. Epub 2015 Jun 30.


AAV.Dysferlin Overlap Vectors Restore Function in Dysferlinopathy Animal Models.

Sondergaard PC, Griffin DA, Pozsgai ER, Johnson RW, Grose WE, Heller KN, Shontz KM, Montgomery CL, Liu J, Clark KR, Sahenk Z, Mendell JR, Rodino-Klapac LR.

Ann Clin Transl Neurol. 2015 Mar;2(3):256-70. doi: 10.1002/acn3.172. Epub 2015 Jan 20.


A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.

Al-Zaidy SA, Malik V, Kneile K, Rosales XQ, Gomez AM, Lewis S, Hashimoto S, Gastier-Foster J, Kang P, Darras B, Kunkel L, Carlo J, Sahenk Z, Moore SA, Pyatt R, Mendell JR.

Mol Genet Genomic Med. 2015 Mar;3(2):92-8. doi: 10.1002/mgg3.125. Epub 2015 Jan 8.


A phase 1/2a follistatin gene therapy trial for becker muscular dystrophy.

Mendell JR, Sahenk Z, Malik V, Gomez AM, Flanigan KM, Lowes LP, Alfano LN, Berry K, Meadows E, Lewis S, Braun L, Shontz K, Rouhana M, Clark KR, Rosales XQ, Al-Zaidy S, Govoni A, Rodino-Klapac LR, Hogan MJ, Kaspar BK.

Mol Ther. 2015 Jan;23(1):192-201. doi: 10.1038/mt.2014.200. Epub 2014 Oct 17.


VIP-expressing dendritic cells protect against spontaneous autoimmune peripheral polyneuropathy.

Yalvac ME, Arnold WD, Hussain SA, Braganza C, Shontz KM, Clark KR, Walker CM, Ubogu EE, Mendell JR, Sahenk Z.

Mol Ther. 2014 Jul;22(7):1353-1363. doi: 10.1038/mt.2014.77. Epub 2014 Apr 25.


Plasmapheresis eliminates the negative impact of AAV antibodies on microdystrophin gene expression following vascular delivery.

Chicoine LG, Montgomery CL, Bremer WG, Shontz KM, Griffin DA, Heller KN, Lewis S, Malik V, Grose WE, Shilling CJ, Campbell KJ, Preston TJ, Coley BD, Martin PT, Walker CM, Clark KR, Sahenk Z, Mendell JR, Rodino-Klapac LR.

Mol Ther. 2014 Feb;22(2):338-347. doi: 10.1038/mt.2013.244. Epub 2013 Oct 23.


AAV1.NT-3 gene therapy for charcot-marie-tooth neuropathy.

Sahenk Z, Galloway G, Clark KR, Malik V, Rodino-Klapac LR, Kaspar BK, Chen L, Braganza C, Montgomery C, Mendell JR.

Mol Ther. 2014 Mar;22(3):511-521. doi: 10.1038/mt.2013.250. Epub 2013 Oct 28.


Vascular delivery of rAAVrh74.MCK.GALGT2 to the gastrocnemius muscle of the rhesus macaque stimulates the expression of dystrophin and laminin α2 surrogates.

Chicoine LG, Rodino-Klapac LR, Shao G, Xu R, Bremer WG, Camboni M, Golden B, Montgomery CL, Shontz K, Heller KN, Griffin DA, Lewis S, Coley BD, Walker CM, Clark KR, Sahenk Z, Mendell JR, Martin PT.

Mol Ther. 2014 Apr;22(4):713-24. doi: 10.1038/mt.2013.246. Epub 2013 Oct 22.


Pathogenesis of autosomal dominant hereditary spastic paraplegia (SPG6) revealed by a rat model.

Watanabe F, Arnold WD, Hammer RE, Ghodsizadeh O, Moti H, Schumer M, Hashmi A, Hernandez A, Sneh A, Sahenk Z, Kisanuki YY.

J Neuropathol Exp Neurol. 2013 Nov;72(11):1016-28. doi: 10.1097/NEN.0000000000000000. Erratum in: J Neuropathol Exp Neurol. 2014 Feb;73(2):190.


Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.

Chanprasert S, Wang J, Weng SW, Enns GM, Boué DR, Wong BL, Mendell JR, Perry DA, Sahenk Z, Craigen WJ, Alcala FJ, Pascual JM, Melancon S, Zhang VW, Scaglia F, Wong LJ.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):153-61. doi: 10.1016/j.ymgme.2013.07.009. Epub 2013 Jul 17.


Eteplirsen for the treatment of Duchenne muscular dystrophy.

Mendell JR, Rodino-Klapac LR, Sahenk Z, Roush K, Bird L, Lowes LP, Alfano L, Gomez AM, Lewis S, Kota J, Malik V, Shontz K, Walker CM, Flanigan KM, Corridore M, Kean JR, Allen HD, Shilling C, Melia KR, Sazani P, Saoud JB, Kaye EM; Eteplirsen Study Group.

Ann Neurol. 2013 Nov;74(5):637-47. doi: 10.1002/ana.23982. Epub 2013 Sep 10.


Micro-dystrophin and follistatin co-delivery restores muscle function in aged DMD model.

Rodino-Klapac LR, Janssen PM, Shontz KM, Canan B, Montgomery CL, Griffin D, Heller K, Schmelzer L, Handy C, Clark KR, Sahenk Z, Mendell JR, Kaspar BK.

Hum Mol Genet. 2013 Dec 15;22(24):4929-37. doi: 10.1093/hmg/ddt342. Epub 2013 Jul 17.


Impaired regeneration in LGMD2A supported by increased PAX7-positive satellite cell content and muscle-specific microrna dysregulation.

Rosales XQ, Malik V, Sneh A, Chen L, Lewis S, Kota J, Gastier-Foster JM, Astbury C, Pyatt R, Reshmi S, Rodino-Klapac LR, Clark KR, Mendell JR, Sahenk Z.

Muscle Nerve. 2013 May;47(5):731-9. doi: 10.1002/mus.23669. Epub 2013 Mar 29.


Update on the treatment of Duchenne muscular dystrophy.

Rodino-Klapac LR, Mendell JR, Sahenk Z.

Curr Neurol Neurosci Rep. 2013 Mar;13(3):332. doi: 10.1007/s11910-012-0332-1. Review.


Camptocormia as a late presentation in a manifesting carrier of duchenne muscular dystrophy.

Findlay AR, Lewis S, Sahenk Z, Flanigan KM.

Muscle Nerve. 2013 Jan;47(1):124-7. doi: 10.1002/mus.23497. Epub 2012 Nov 21.


Gene therapy for muscular dystrophy: lessons learned and path forward.

Mendell JR, Rodino-Klapac L, Sahenk Z, Malik V, Kaspar BK, Walker CM, Clark KR.

Neurosci Lett. 2012 Oct 11;527(2):90-9. doi: 10.1016/j.neulet.2012.04.078. Epub 2012 May 17. Review.


Mutant HSPB1 overexpression in neurons is sufficient to cause age-related motor neuronopathy in mice.

Srivastava AK, Renusch SR, Naiman NE, Gu S, Sneh A, Arnold WD, Sahenk Z, Kolb SJ.

Neurobiol Dis. 2012 Aug;47(2):163-73. doi: 10.1016/j.nbd.2012.03.035. Epub 2012 Apr 11.


Knee extensor strength exhibits potential to predict function in sporadic inclusion-body myositis.

Lowes LP, Alfano L, Viollet L, Rosales XQ, Sahenk Z, Kaspar BK, Clark KR, Flanigan KM, Mendell JR, McDermott MP.

Muscle Nerve. 2012 Feb;45(2):163-8. doi: 10.1002/mus.22321.


The muscular dystrophies: distinct pathogenic mechanisms invite novel therapeutic approaches.

Sahenk Z, Mendell JR.

Curr Rheumatol Rep. 2011 Jun;13(3):199-207. doi: 10.1007/s11926-011-0178-6. Review.


Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D.

Mendell JR, Rodino-Klapac LR, Rosales XQ, Coley BD, Galloway G, Lewis S, Malik V, Shilling C, Byrne BJ, Conlon T, Campbell KJ, Bremer WG, Taylor LE, Flanigan KM, Gastier-Foster JM, Astbury C, Kota J, Sahenk Z, Walker CM, Clark KR.

Ann Neurol. 2010 Nov;68(5):629-38. doi: 10.1002/ana.22251.


Dystrophin immunity in Duchenne's muscular dystrophy.

Mendell JR, Campbell K, Rodino-Klapac L, Sahenk Z, Shilling C, Lewis S, Bowles D, Gray S, Li C, Galloway G, Malik V, Coley B, Clark KR, Li J, Xiao X, Samulski J, McPhee SW, Samulski RJ, Walker CM.

N Engl J Med. 2010 Oct 7;363(15):1429-37. doi: 10.1056/NEJMoa1000228.


A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype.

Gladman JT, Bebee TW, Edwards C, Wang X, Sahenk Z, Rich MM, Chandler DS.

Hum Mol Genet. 2010 Nov 1;19(21):4239-52. doi: 10.1093/hmg/ddq343. Epub 2010 Aug 12.


TrkB and TrkC agonist antibodies improve function, electrophysiologic and pathologic features in Trembler J mice.

Sahenk Z, Galloway G, Edwards C, Malik V, Kaspar BK, Eagle A, Yetter B, Forgie A, Tsao D, Lin JC.

Exp Neurol. 2010 Aug;224(2):495-506. doi: 10.1016/j.expneurol.2010.05.013. Epub 2010 May 27.


Novel diagnostic features of dysferlinopathies.

Rosales XQ, Gastier-Foster JM, Lewis S, Vinod M, Thrush DL, Astbury C, Pyatt R, Reshmi S, Sahenk Z, Mendell JR.

Muscle Nerve. 2010 Jul;42(1):14-21. doi: 10.1002/mus.21650.


Direct immunofluoresence in vasculitic neuropathy: specificity of vascular immune deposits.

Collins MP, Periquet-Collins I, Sahenk Z, Kissel JT.

Muscle Nerve. 2010 Jul;42(1):62-9. doi: 10.1002/mus.21639.


Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy.

Malik V, Rodino-Klapac LR, Viollet L, Wall C, King W, Al-Dahhak R, Lewis S, Shilling CJ, Kota J, Serrano-Munuera C, Hayes J, Mahan JD, Campbell KJ, Banwell B, Dasouki M, Watts V, Sivakumar K, Bien-Willner R, Flanigan KM, Sahenk Z, Barohn RJ, Walker CM, Mendell JR.

Ann Neurol. 2010 Jun;67(6):771-80. doi: 10.1002/ana.22024.


Follistatin gene delivery enhances muscle growth and strength in nonhuman primates.

Kota J, Handy CR, Haidet AM, Montgomery CL, Eagle A, Rodino-Klapac LR, Tucker D, Shilling CJ, Therlfall WR, Walker CM, Weisbrode SE, Janssen PM, Clark KR, Sahenk Z, Mendell JR, Kaspar BK.

Sci Transl Med. 2009 Nov 11;1(6):6ra15. doi: 10.1126/scitranslmed.3000112.


Persistent expression of FLAG-tagged micro dystrophin in nonhuman primates following intramuscular and vascular delivery.

Rodino-Klapac LR, Montgomery CL, Bremer WG, Shontz KM, Malik V, Davis N, Sprinkle S, Campbell KJ, Sahenk Z, Clark KR, Walker CM, Mendell JR, Chicoine LG.

Mol Ther. 2010 Jan;18(1):109-17. doi: 10.1038/mt.2009.254. Epub 2009 Nov 10.


Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins.

Mendell JR, Rodino-Klapac LR, Rosales-Quintero X, Kota J, Coley BD, Galloway G, Craenen JM, Lewis S, Malik V, Shilling C, Byrne BJ, Conlon T, Campbell KJ, Bremer WG, Viollet L, Walker CM, Sahenk Z, Clark KR.

Ann Neurol. 2009 Sep;66(3):290-7. doi: 10.1002/ana.21732.


Overexpression of Galgt2 in skeletal muscle prevents injury resulting from eccentric contractions in both mdx and wild-type mice.

Martin PT, Xu R, Rodino-Klapac LR, Oglesbay E, Camboni M, Montgomery CL, Shontz K, Chicoine LG, Clark KR, Sahenk Z, Mendell JR, Janssen PM.

Am J Physiol Cell Physiol. 2009 Mar;296(3):C476-88. doi: 10.1152/ajpcell.00456.2008. Epub 2008 Dec 24.


Hypotonia, weakness, and pontocerebellar hypoplasia in siblings.

Tsao CY, Mendell J, Sahenk Z, Rusin J, Boue D.

Semin Pediatr Neurol. 2008 Dec;15(4):151-3. doi: 10.1016/j.spen.2008.09.001.


Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.

Zhang X, Chow CY, Sahenk Z, Shy ME, Meisler MH, Li J.

Brain. 2008 Aug;131(Pt 8):1990-2001. doi: 10.1093/brain/awn114. Epub 2008 Jun 12.


Neurotrophin-3 deficient Schwann cells impair nerve regeneration.

Sahenk Z, Oblinger J, Edwards C.

Exp Neurol. 2008 Aug;212(2):552-6. doi: 10.1016/j.expneurol.2008.04.015. Epub 2008 Apr 23.


Long-term enhancement of skeletal muscle mass and strength by single gene administration of myostatin inhibitors.

Haidet AM, Rizo L, Handy C, Umapathi P, Eagle A, Shilling C, Boue D, Martin PT, Sahenk Z, Mendell JR, Kaspar BK.

Proc Natl Acad Sci U S A. 2008 Mar 18;105(11):4318-22. doi: 10.1073/pnas.0709144105. Epub 2008 Mar 11.


Interplay of IKK/NF-kappaB signaling in macrophages and myofibers promotes muscle degeneration in Duchenne muscular dystrophy.

Acharyya S, Villalta SA, Bakkar N, Bupha-Intr T, Janssen PM, Carathers M, Li ZW, Beg AA, Ghosh S, Sahenk Z, Weinstein M, Gardner KL, Rafael-Fortney JA, Karin M, Tidball JG, Baldwin AS, Guttridge DC.

J Clin Invest. 2007 Apr;117(4):889-901. Epub 2007 Mar 22.


Neurotrophins and peripheral neuropathies.

Sahenk Z.

Brain Pathol. 2006 Oct;16(4):311-9. Review.


Diagnosis and Treatment of Chronic Immune-mediated Neuropathies.

Latov N, Gorson KC, Brannagan TH 3rd, Freeman RL, Apostolski S, Berger AR, Bradley WG, Briani C, Bril V, Busis NA, Cros DP, Dalakas MC, Donofrio PD, Dyck PJ, England JD, Fisher MA, Herrmann DN, Menkes DL, Sahenk Z, Sander HW, Triggs WJ, Vallat JM.

J Clin Neuromuscul Dis. 2006 Mar;7(3):141-57.


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