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Myotonic Muscular Dystrophies.

Johnson NE.

Continuum (Minneap Minn). 2019 Dec;25(6):1682-1695. doi: 10.1212/CON.0000000000000793.


Consensus-based care recommendations for congenital and childhood-onset myotonic dystrophy type 1.

Johnson NE, Aldana EZ, Angeard N, Ashizawa T, Berggren KN, Marini-Bettolo C, Duong T, Ekström AB, Sansone V, Tian C, Hellerstein L, Campbell C.

Neurol Clin Pract. 2019 Oct;9(5):443-454. doi: 10.1212/CPJ.0000000000000646. Review.


Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study.

LoRusso S, Johnson NE, McDermott MP, Eichinger K, Butterfield RJ, Carraro E, Higgs K, Lewis L, Mul K, Sacconi S, Sansone VA, Shieh P, van Engelen B, Wagner K, Wang L, Statland JM, Tawil R; ReSolve Investigators and the FSHD CTRN18.

BMC Neurol. 2019 Sep 10;19(1):224. doi: 10.1186/s12883-019-1452-x.


Repeat-associated RNA structure and aberrant splicing.

Hale MA, Johnson NE, Berglund JA.

Biochim Biophys Acta Gene Regul Mech. 2019 Nov - Dec;1862(11-12):194405. doi: 10.1016/j.bbagrm.2019.07.006. Epub 2019 Jul 16. Review.


Patient-reported study of the impact of pediatric-onset myotonic dystrophy.

Hunter M, Ekstrom AB, Campbell C, Hung M, Bounsanga J, Bates K, Adams HR, Luebbe E, Moxley RT 3rd, Heatwole C, Johnson NE.

Muscle Nerve. 2019 Oct;60(4):392-399. doi: 10.1002/mus.26632. Epub 2019 Jul 26.


Limb-girdle muscular dystrophy: A perspective from adult patients on what matters most.

Hunter M, Heatwole C, Wicklund M, Weihl CC, Mozaffar T, Statland JM, Johnson NE.

Muscle Nerve. 2019 Oct;60(4):419-424. doi: 10.1002/mus.26636. Epub 2019 Jul 24.


Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases.

Liu W, Pajusalu S, Lake NJ, Zhou G, Ioannidis N, Mittal P, Johnson NE, Weihl CC, Williams BA, Albrecht DE, Rufibach LE, Lek M.

Genet Med. 2019 Nov;21(11):2512-2520. doi: 10.1038/s41436-019-0544-8. Epub 2019 May 20.


FSHD1 or FSHD2: That is the question: The answer: It's all just FSHD.

Johnson NE, Statland JM.

Neurology. 2019 May 7;92(19):881-882. doi: 10.1212/WNL.0000000000007446. Epub 2019 Apr 12. No abstract available.


Muscle at the junction: Where next generation sequencing is sending us.

Johnson NE, Butterfield R.

Neurology. 2019 Mar 26;92(13):591-592. doi: 10.1212/WNL.0000000000007192. Epub 2019 Mar 1. No abstract available.


Effects of weakness of orofacial muscles on swallowing and communication in FSHD.

Mul K, Berggren KN, Sills MY, McCalley A, van Engelen BGM, Johnson NE, Statland JM.

Neurology. 2019 Feb 26;92(9):e957-e963. doi: 10.1212/WNL.0000000000007013. Epub 2019 Jan 25.


Consensus-based care recommendations for adults with myotonic dystrophy type 1.

Ashizawa T, Gagnon C, Groh WJ, Gutmann L, Johnson NE, Meola G, Moxley R 3rd, Pandya S, Rogers MT, Simpson E, Angeard N, Bassez G, Berggren KN, Bhakta D, Bozzali M, Broderick A, Byrne JLB, Campbell C, Cup E, Day JW, De Mattia E, Duboc D, Duong T, Eichinger K, Ekstrom AB, van Engelen B, Esparis B, Eymard B, Ferschl M, Gadalla SM, Gallais B, Goodglick T, Heatwole C, Hilbert J, Holland V, Kierkegaard M, Koopman WJ, Lane K, Maas D, Mankodi A, Mathews KD, Monckton DG, Moser D, Nazarian S, Nguyen L, Nopoulos P, Petty R, Phetteplace J, Puymirat J, Raman S, Richer L, Roma E, Sampson J, Sansone V, Schoser B, Sterling L, Statland J, Subramony SH, Tian C, Trujillo C, Tomaselli G, Turner C, Venance S, Verma A, White M, Winblad S.

Neurol Clin Pract. 2018 Dec;8(6):507-520. doi: 10.1212/CPJ.0000000000000531. Review.


Stepping Activity in Children With Congenital Myotonic Dystrophy.

Hayes HA, Dibella D, Crockett R, Dixon M, Butterfield RJ, Johnson NE.

Pediatr Phys Ther. 2018 Oct;30(4):335-339. doi: 10.1097/PEP.0000000000000537.


Modified dynamic gait index and limits of stability in myotonic dystrophy type 1.

Pucillo EM, Mcintyre MM, Pautler M, Hung M, Bounsanga J, Voss MW, Hayes H, Dibella DL, Trujillo C, Dixon M, Butterfield RJ, Johnson NE.

Muscle Nerve. 2018 Nov;58(5):694-699. doi: 10.1002/mus.26331. Epub 2018 Sep 23.


Myopathy in the York Platelet Syndrome: An Underrecognized Complication.

Roman J, Palmer MI, Palmer CA, Johnson NE, Butterfield RJ.

Case Rep Pathol. 2018 Aug 12;2018:5130143. doi: 10.1155/2018/5130143. eCollection 2018.


The Charcot-Marie-Tooth Health Index: Evaluation of a Patient-Reported Outcome.

Johnson NE, Heatwole C, Creigh P, McDermott MP, Dilek N, Hung M, Bounsanga J, Tang W, Shy ME, Herrmann DN.

Ann Neurol. 2018 Aug;84(2):225-233. doi: 10.1002/ana.25282. Epub 2018 Aug 29.


Orofacial strength, dysarthria, and dysphagia in congenital myotonic dystrophy.

Berggren KN, Hung M, Dixon MM, Bounsanga J, Crockett B, Foye MD, Gu Y, Campbell C, Butterfield RJ, Johnson NE.

Muscle Nerve. 2018 Sep;58(3):413-417. doi: 10.1002/mus.26176.


A Qualitative Approach to Health Related Quality-of-Life in Congenital Muscular Dystrophy.

Cornwall KM, Butterfield RJ, Hernandez A, Heatwole C, Johnson NE.

J Neuromuscul Dis. 2018;5(2):251-255. doi: 10.3233/JND-170252.


2017 Year in Review and Message from the Editors to Our Reviewers.

Pulst SM, Johnson NE, Pandolfo M, Roos RP, Vance JM.

Neurol Genet. 2018 Feb 16;4(1):e221. doi: 10.1212/NXG.0000000000000221. eCollection 2018 Feb. No abstract available.


The difficulties and importance of research in rare genetic diseases.

Hunter M, Johnson NE.

Muscle Nerve. 2018 Apr;57(4):520-521. doi: 10.1002/mus.26043. Epub 2018 Jan 30. No abstract available.


Review of the Diagnosis and Treatment of Periodic Paralysis.

Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA, Shieh PB, Tawil RN, Trivedi J, Cannon SC, Griggs RC.

Muscle Nerve. 2018 Apr;57(4):522-530. doi: 10.1002/mus.26009. Epub 2017 Nov 29. Review.


Oxygen-Induced Ordering in Bulk Polycrystalline Cu2ZnSnS4 by Sn Removal.

Pogue EA, Sutrisno A, Johnson NE, Shoemaker DP, Rockett AA.

Inorg Chem. 2017 Oct 16;56(20):12328-12336. doi: 10.1021/acs.inorgchem.7b01777. Epub 2017 Sep 28.


Patient-Centered Therapy Development for Myotonic Dystrophy: Report of the Myotonic Dystrophy Foundation-Sponsored Workshop.

Hesterlee S, Amur S, Bain LJ, Carulli J, Clarke S, Day JW, Gagnon C, Hagerman K, Heatwole C, Johnson NE, Moxley R 3rd, Patel N, Thornton C, Kessel W, White M.

Ther Innov Regul Sci. 2017 Jul;51(4):516-522. doi: 10.1177/2168479016683988. Epub 2017 Feb 9.


2016 in Review and Message from the Editors to our Reviewers.

Pulst SM, Johnson NE, Durr A, Pandolfo M, Roos RP, Vance JM.

Neurol Genet. 2017 Feb 15;3(1):e132. doi: 10.1212/NXG.0000000000000132. eCollection 2017 Feb. No abstract available.


Patterns of waste generation: A gradient boosting model for short-term waste prediction in New York City.

Johnson NE, Ianiuk O, Cazap D, Liu L, Starobin D, Dobler G, Ghandehari M.

Waste Manag. 2017 Apr;62:3-11. doi: 10.1016/j.wasman.2017.01.037. Epub 2017 Feb 16.


Inclusion Body Myositis: What Most Impacts Patients' Lives.

Gibson C, Johnson NE, Eastwood E, Heatwole C.

J Clin Neuromuscul Dis. 2016 Dec;18(2):67-71.


Physical function and mobility in children with congenital myotonic dystrophy.

Pucillo EM, Dibella DL, Hung M, Bounsanga J, Crockett B, Dixon M, Butterfield RJ, Campbell C, Johnson NE.

Muscle Nerve. 2017 Aug;56(2):224-229. doi: 10.1002/mus.25482. Epub 2017 Feb 13.


The Impact of Pregnancy on Myotonic Dystrophy: A Registry-Based Study.

Johnson NE, Hung M, Nasser E, Hagerman KA, Chen W, Ciafaloni E, Heatwole CR.

J Neuromuscul Dis. 2015 Oct 7;2(4):447-452.


What Matters Most: A Perspective From Adult Spinal Muscular Atrophy Patients.

Hunter M, Heatwole C, Luebbe E, Johnson NE.

J Neuromuscul Dis. 2016 Aug 30;3(3):425-429.


Same-day physical therapy consults in an outpatient neuromuscular disease physician clinic.

Pucillo EM, Christensen-Mayer N, Poole SD, Whitten DM, Freeman D, Bohe BR, Swensen BR, Smith AG, Johnson NE.

J Multidiscip Healthc. 2016 Oct 3;9:493-497. eCollection 2016.


Disease burden and functional outcomes in congenital myotonic dystrophy: A cross-sectional study.

Johnson NE, Butterfield R, Berggren K, Hung M, Chen W, DiBella D, Dixon M, Hayes H, Pucillo E, Bounsanga J, Heatwole C, Campbell C.

Neurology. 2016 Jul 12;87(2):160-7. doi: 10.1212/WNL.0000000000002845. Epub 2016 Jun 15.


Whole-exome sequencing in neurologic practice: Reducing the diagnostic odyssey.

Johnson NE.

Neurol Genet. 2015 Dec 24;1(4):e37. doi: 10.1212/NXG.0000000000000037. eCollection 2015 Dec.


A population-based survey of risk for cancer in individuals diagnosed with myotonic dystrophy.

Abbott D, Johnson NE, Cannon-Albright LA.

Muscle Nerve. 2016 Oct;54(4):783-5. doi: 10.1002/mus.25145. Epub 2016 Jul 7.


Neuromuscular Disease.

Butterfield RJ, Johnson NE.

J Pediatr Rehabil Med. 2016;9(1):1-2. doi: 10.3233/PRM-160354. No abstract available.


Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach.

McCorquodale D, Pucillo EM, Johnson NE.

J Multidiscip Healthc. 2016 Jan 19;9:7-19. doi: 10.2147/JMDH.S69979. eCollection 2016. Review.


Neurology Advocacy 2.0: After Sustainable Growth Rate Repeal.

Johnson NE, Kaloides A, Jones E.

JAMA Neurol. 2016 Feb;73(2):151-2. doi: 10.1001/jamaneurol.2015.2666. Review. No abstract available.


An ultrasensitive reverse transcription polymerase chain reaction assay to detect asymptomatic low-density Plasmodium falciparum and Plasmodium vivax infections in small volume blood samples.

Adams M, Joshi SN, Mbambo G, Mu AZ, Roemmich SM, Shrestha B, Strauss KA, Johnson NE, Oo KZ, Hlaing TM, Han ZY, Han KT, Thura S, Richards AK, Huang F, Nyunt MM, Plowe CV.

Malar J. 2015 Dec 23;14:520. doi: 10.1186/s12936-015-1038-z.


Parent-reported multi-national study of the impact of congenital and childhood onset myotonic dystrophy.

Johnson NE, Ekstrom AB, Campbell C, Hung M, Adams HR, Chen W, Luebbe E, Hilbert J, Moxley RT 3rd, Heatwole CR.

Dev Med Child Neurol. 2016 Jul;58(7):698-705. doi: 10.1111/dmcn.12948. Epub 2015 Oct 28.


Relative risks for comorbidities associated with myotonic dystrophy: A population-based analysis.

Johnson NE, Abbott D, Cannon-Albright LA.

Muscle Nerve. 2015 Oct;52(4):659-61. doi: 10.1002/mus.24766. Epub 2015 Aug 26.


Myotonic dystrophy health index: Correlations with clinical tests and patient function.

Heatwole C, Bode R, Johnson NE, Dekdebrun J, Dilek N, Eichinger K, Hilbert JE, Logigian E, Luebbe E, Martens W, Mcdermott MP, Pandya S, Puwanant A, Rothrock N, Thornton C, Vickrey BG, Victorson D, Moxley RT 3rd.

Muscle Nerve. 2016 Feb;53(2):183-90. doi: 10.1002/mus.24725. Epub 2015 Dec 29.


Disease course and therapeutic approach in dermatomyositis: A four-center retrospective study of 100 patients.

Johnson NE, Arnold WD, Hebert D, Gwathmey K, Dimachkie MM, Barohn RJ, McVey AL, Pasnoor M, Amato AA, McDermott MP, Kissel J, Heatwole CR.

Neuromuscul Disord. 2015 Aug;25(8):625-31. doi: 10.1016/j.nmd.2015.04.013. Epub 2015 May 7.


Quality-of-life in Charcot-Marie-Tooth disease: the patient's perspective.

Johnson NE, Heatwole CR, Dilek N, Sowden J, Kirk CA, Shereff D, Shy ME, Herrmann DN; Inherited Neuropathies Consortium.

Neuromuscul Disord. 2014 Nov;24(11):1018-23. doi: 10.1016/j.nmd.2014.06.433. Epub 2014 Jun 27.


Prospective study of muscle cramps in Charcot-Marie-tooth disease.

Johnson NE, Sowden J, Dilek N, Eichinger K, Burns J, Mcdermott MP, Shy ME, Herrmann DN.

Muscle Nerve. 2015 Apr;51(4):485-8. doi: 10.1002/mus.24333. Epub 2015 Feb 11.


Health, retirement, and migration from metro counties: evidence from the health and retirement study.

Johnson NE.

Biodemography Soc Biol. 2013;59(2):127-40. doi: 10.1080/19485565.2013.833800.


Visualization of the diaphragm muscle with ultrasound improves diagnostic accuracy of phrenic nerve conduction studies.

Johnson NE, Utz M, Patrick E, Rheinwald N, Downs M, Dilek N, Dogra V, Logigian EL.

Muscle Nerve. 2014 May;49(5):669-75. doi: 10.1002/mus.24059. Epub 2014 Apr 8.


Patient identification of the symptomatic impact of charcot-marie-tooth disease type 1A.

Johnson NE, Heatwole CR, Ferguson M, Sowden JE, Jeanat S, Herrmann DN.

J Clin Neuromuscul Dis. 2013 Sep;15(1):19-23. doi: 10.1097/CND.0b013e31829e22e3.


Teaching video neuroimages: trapezius myotonia percussion sign in myotonic dystrophy type 2.

Johnson NE, Heatwole CR.

Neurology. 2013 Jun 11;80(24):e251. doi: 10.1212/WNL.0b013e318296e905. No abstract available.


The impact of congenital and childhood myotonic dystrophy on quality of life: a qualitative study of associated symptoms.

Johnson NE, Luebbe E, Eastwood E, Chin N, Moxley RT 3rd, Heatwole CR.

J Child Neurol. 2014 Jul;29(7):983-6. doi: 10.1177/0883073813484804. Epub 2013 Apr 22.


New insights about the incidence, multisystem manifestations, and care of patients with congenital myotonic dystrophy.

Hilbert JE, Johnson NE, Moxley RT 3rd.

J Pediatr. 2013 Jul;163(1):12-4. doi: 10.1016/j.jpeds.2013.02.022. Epub 2013 Mar 16. No abstract available.


Myotonia congenita in a patient who presented with diplopia and ptosis.

Odrzywolski K, Johnson NE, Twydell PT.

Muscle Nerve. 2013 Feb;47(2):307-8. doi: 10.1002/mus.23634. No abstract available.


Patient-identified disease burden in facioscapulohumeral muscular dystrophy.

Johnson NE, Quinn C, Eastwood E, Tawil R, Heatwole CR.

Muscle Nerve. 2012 Dec;46(6):951-3. doi: 10.1002/mus.23529.

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