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Items: 1 to 50 of 82

1.

Descriptive Phenotype of Obsessive Compulsive Symptoms in Males With Duchenne Muscular Dystrophy.

Lee AJ, Buckingham ET, Kauer AJ, Mathews KD.

J Child Neurol. 2018 Aug;33(9):572-579. doi: 10.1177/0883073818774439. Epub 2018 May 20.

PMID:
29779439
2.

Uniparental disomy unveils a novel recessive mutation in POMT2.

Brun BN, Willer T, Darbro BW, Gonorazky HD, Naumenko S, Dowling JJ, Campbell KP, Moore SA, Mathews KD.

Neuromuscul Disord. 2018 Jul;28(7):592-596. doi: 10.1016/j.nmd.2018.04.003. Epub 2018 Apr 10.

PMID:
29759639
3.

Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia.

Ejaz R, Chen S, Isaacs CJ, Carnevale A, Wilson J, George K, Delatycki MB, Perlman SL, Mathews KD, Wilmot GR, Hoyle JC, Subramony SH, Zesiewicz T, Farmer JM, Lynch DR, Yoon G.

J Child Neurol. 2018 May;33(6):397-404. doi: 10.1177/0883073818764941. Epub 2018 Apr 2.

PMID:
29607705
4.

Dystrophinopathy muscle biopsies in the genetic testing ERA: One center's data.

Carlson CR, Moore SA, Mathews KD.

Muscle Nerve. 2018 Jan 24. doi: 10.1002/mus.26083. [Epub ahead of print]

PMID:
29365344
5.

Illness-associated muscle weakness in dystroglycanopathies.

Carlson CR, McGaughey SD, Eskuri JM, Stephan CM, Zimmerman MB, Mathews KD.

Neurology. 2017 Dec 5;89(23):2374-2380. doi: 10.1212/WNL.0000000000004720. Epub 2017 Nov 3.

PMID:
29101272
6.

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.

Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R.

Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095.

PMID:
28459997
7.

Comparison of brain MRI findings with language and motor function in the dystroglycanopathies.

Brun BN, Mockler SR, Laubscher KM, Stephan CM, Wallace AM, Collison JA, Zimmerman MB, Dobyns WB, Mathews KD.

Neurology. 2017 Feb 14;88(7):623-629. doi: 10.1212/WNL.0000000000003609. Epub 2017 Jan 13.

8.

Childhood Activity on Progression in Limb Girdle Muscular Dystrophy 2I.

Brun BN, Mockler SR, Laubscher KM, Stephan CM, Collison JA, Zimmerman MB, Mathews KD.

J Child Neurol. 2017 Feb;32(2):204-209. doi: 10.1177/0883073816677680. Epub 2016 Nov 22.

9.

Prevalence and bother of patient-reported lower urinary tract symptoms in the muscular dystrophies.

Bertrand LA, Askeland EJ, Mathews KD, Erickson BA, Cooper CS.

J Pediatr Urol. 2016 Dec;12(6):398.e1-398.e4. doi: 10.1016/j.jpurol.2016.04.051. Epub 2016 Jul 12.

PMID:
27567595
10.

Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency.

Shinnick JE, Schadt K, Strawser C, Wilcox N, Perlman SL, Wilmot GR, Gomez CM, Mathews KD, Yoon G, Zesiewicz T, Hoyle C, Subramony SH, Yiu EM, Delatycki MB, Brocht AF, Farmer JM, Lynch DR.

J Child Neurol. 2016 Aug;31(9):1161-5. doi: 10.1177/0883073816643408. Epub 2016 Apr 12.

PMID:
27071470
11.

Editorial by concerned physicians: Unintended effect of the orphan drug act on the potential cost of 3,4-diaminopyridine.

Burns TM, Smith GA, Allen JA, Amato AA, Arnold WD, Barohn R, Benatar M, Bird SJ, Bromberg M, Chahin N, Ciafaloni E, Cohen JA, Corse A, Crum BA, David WS, Dimberg E, Sousa EA, Donofrio PD, Dyck PJ, Engel AG, Ensrud ER, Ferrante M, Freimer M, Gable KL, Gibson S, Gilchrist JM, Goldstein JM, Gooch CL, Goodman BP, Gorelov D, Gospe SM Jr, Goyal NA, Guidon AC, Guptill JT, Gutmann L, Gutmann L, Gwathmey K, Harati Y, Harper CM Jr, Hehir MK, Hobson-Webb LD, Howard JF Jr, Jackson CE, Johnson N, Jones SM, Juel VC, Kaminski HJ, Karam C, Kennelly KD, Khella S, Khoury J, Kincaid JC, Kissel JT, Kolb N, Lacomis D, Ladha S, Larriviere D, Lewis RA, Li Y, Litchy WJ, Logigian E, Lou JS, MacGowen DJ, Maselli R, Massey JM, Mauermann ML, Mathews KD, Meriggioli MN, Miller RG, Moon JS, Mozaffar T, Nations SP, Nowak RJ, Ostrow LW, Pascuzzi RM, Peltier A, Ruzhansky K, Richman DP, Ross MA, Rubin DI, Russell JA, Sachs GM, Salajegheh MK, Saperstein DS, Scelsa S, Selcen D, Shaibani A, Shieh PB, Silvestri NJ, Singleton JR, Smith BE, So YT, Solorzano G, Sorenson EJ, Srinivasen J, Tavee J, Tawil R, Thaisetthawatkul P, Thornton C, Trivedi J, Vernino S, Wang AK, Webb TA, Weiss MD, Windebank AJ, Wolfe GI.

Muscle Nerve. 2016 Feb;53(2):165-8. doi: 10.1002/mus.25009. Epub 2015 Dec 21. No abstract available.

PMID:
26662952
12.

Frataxin levels in peripheral tissue in Friedreich ataxia.

Lazaropoulos M, Dong Y, Clark E, Greeley NR, Seyer LA, Brigatti KW, Christie C, Perlman SL, Wilmot GR, Gomez CM, Mathews KD, Yoon G, Zesiewicz T, Hoyle C, Subramony SH, Brocht AF, Farmer JM, Wilson RB, Deutsch EC, Lynch DR.

Ann Clin Transl Neurol. 2015 Aug;2(8):831-42. doi: 10.1002/acn3.225. Epub 2015 Jul 1.

13.

GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

Jensen BS, Willer T, Saade DN, Cox MO, Mozaffar T, Scavina M, Stefans VA, Winder TL, Campbell KP, Moore SA, Mathews KD.

Hum Mutat. 2015 Dec;36(12):1159-63. doi: 10.1002/humu.22898. Epub 2015 Sep 23.

14.

Neurobehavioral Concerns Among Males with Dystrophinopathy Using Population-Based Surveillance Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network.

Caspers Conway K, Mathews KD, Paramsothy P, Oleszek J, Trout C, Zhang Y, Romitti PA; MD STARnet.

J Dev Behav Pediatr. 2015 Jul-Aug;36(6):455-63. doi: 10.1097/DBP.0000000000000177.

15.

Prevalence of Duchenne and Becker muscular dystrophies in the United States.

Romitti PA, Zhu Y, Puzhankara S, James KA, Nabukera SK, Zamba GK, Ciafaloni E, Cunniff C, Druschel CM, Mathews KD, Matthews DJ, Meaney FJ, Andrews JG, Conway KM, Fox DJ, Street N, Adams MM, Bolen J; MD STARnet.

Pediatrics. 2015 Mar;135(3):513-21. doi: 10.1542/peds.2014-2044. Epub 2015 Feb 16. Erratum in: Pediatrics. 2015 May;135(5):945.

16.

Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45.

Findlay AR, Wein N, Kaminoh Y, Taylor LE, Dunn DM, Mendell JR, King WM, Pestronk A, Florence JM, Mathews KD, Finkel RS, Swoboda KJ, Howard MT, Day JW, McDonald C, Nicolas A, Le Rumeur E, Weiss RB, Flanigan KM; United Dystrophinopathy Project.

Ann Neurol. 2015 Apr;77(4):668-74. doi: 10.1002/ana.24365. Epub 2015 Mar 2.

17.

Recognition and management of motor delay and muscle weakness in children.

Lurio JG, Peay HL, Mathews KD.

Am Fam Physician. 2015 Jan 1;91(1):38-44.

18.

Urologic and gastrointestinal symptoms in the dystroglycanopathies.

Crockett CD, Bertrand LA, Cooper CS, Rahhal RM, Liu K, Zimmerman MB, Moore SA, Mathews KD.

Neurology. 2015 Feb 3;84(5):532-9. doi: 10.1212/WNL.0000000000001213. Epub 2015 Jan 7.

19.

Genitourinary health in a population-based cohort of males with Duchenne and Becker Muscular dystrophies.

Zhu Y, Romitti PA, Caspers Conway KM, Kim S, Zhang Y, Yang M, Mathews KD; Muscular Dystrophy Surveillance, Tracking, and Research Network.

Muscle Nerve. 2015 Jul;52(1):22-7. doi: 10.1002/mus.24486. Epub 2015 Jun 3.

20.

The boy who lost his smile: facioscapulohumeral dystrophy in the head and neck.

Kopelovich JC, Owen S, Mathews KD, Henstrom DK.

Ann Otol Rhinol Laryngol. 2015 Feb;124(2):148-52. doi: 10.1177/0003489414543071. Epub 2014 Jul 24.

PMID:
25059448
21.

Major bleeding with dabigatran and rivaroxaban in patients with atrial fibrillation: a real-world setting.

Fontaine GV, Mathews KD, Woller SC, Stevens SM, Lloyd JF, Evans RS.

Clin Appl Thromb Hemost. 2014 Oct;20(7):665-72. doi: 10.1177/1076029614536606. Epub 2014 May 28.

PMID:
24875781
22.

Diagnostic approach to the congenital muscular dystrophies.

Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, Muntoni F, Sewry C, Béroud C, Mathews KD, Moore SA, Bellini J, Rutkowski A, North KN; Members of International Standard of Care Committee for Congenital Muscular Dystrophies.

Neuromuscul Disord. 2014 Apr;24(4):289-311. doi: 10.1016/j.nmd.2013.12.011. Epub 2014 Jan 9.

23.

Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy.

Lutz KL, Holte L, Kliethermes SA, Stephan C, Mathews KD.

Neurology. 2013 Oct 15;81(16):1374-7. doi: 10.1212/WNL.0b013e3182a84140. Epub 2013 Sep 16.

24.

A 16-week-old infant with failure to thrive and hypotonia.

Ng B, Mathews KD, Bartlett HL.

Clin Pediatr (Phila). 2013 Nov;52(11):1075-8. doi: 10.1177/0009922813502125. Epub 2013 Sep 10. No abstract available.

PMID:
24027232
25.

Genotype-phenotype correlations in recessive RYR1-related myopathies.

Amburgey K, Bailey A, Hwang JH, Tarnopolsky MA, Bonnemann CG, Medne L, Mathews KD, Collins J, Daube JR, Wellman GP, Callaghan B, Clarke NF, Dowling JJ.

Orphanet J Rare Dis. 2013 Aug 6;8:117. doi: 10.1186/1750-1172-8-117.

26.

LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy.

Flanigan KM, Ceco E, Lamar KM, Kaminoh Y, Dunn DM, Mendell JR, King WM, Pestronk A, Florence JM, Mathews KD, Finkel RS, Swoboda KJ, Gappmaier E, Howard MT, Day JW, McDonald C, McNally EM, Weiss RB; United Dystrophinopathy Project.

Ann Neurol. 2013 Apr;73(4):481-8. doi: 10.1002/ana.23819. Epub 2013 Feb 20.

27.

Urological manifestations of Duchenne muscular dystrophy.

Askeland EJ, Arlen AM, Erickson BA, Mathews KD, Cooper CS.

J Urol. 2013 Oct;190(4 Suppl):1523-8. doi: 10.1016/j.juro.2013.01.059. Epub 2013 Jan 25.

PMID:
23357214
28.

Reproductive patterns among mothers of males diagnosed with Duchenne or Becker muscular dystrophy.

Nabukera SK, Romitti PA, Caspers KM, Street N, Cunniff C, Mathews KD, Fox DJ, Puzhankara S, Ciafaloni E, James KA, Su Y; MD STARnet.

Am J Med Genet A. 2013 Jan;161A(1):70-5. doi: 10.1002/ajmg.a.35682. Epub 2012 Dec 13.

29.

Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants.

Regner SR, Wilcox NS, Friedman LS, Seyer LA, Schadt KA, Brigatti KW, Perlman S, Delatycki M, Wilmot GR, Gomez CM, Bushara KO, Mathews KD, Subramony SH, Ashizawa T, Ravina B, Brocht A, Farmer JM, Lynch DR.

J Child Neurol. 2012 Sep;27(9):1152-8. doi: 10.1177/0883073812448462. Epub 2012 Jun 29.

30.

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.

Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL, Strahl S, Mathews KD, Nelson SF, Moore SA, Campbell KP.

Nat Genet. 2012 May;44(5):575-80. doi: 10.1038/ng.2252.

31.

Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS.

Eskuri JM, Stanley CM, Moore SA, Mathews KD.

J Peripher Nerv Syst. 2012 Mar;17(1):132-4. doi: 10.1111/j.1529-8027.2012.00370.x.

32.

LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle.

Dialynas G, Flannery KM, Zirbel LN, Nagy PL, Mathews KD, Moore SA, Wallrath LL.

Hum Mol Genet. 2012 Apr 1;21(7):1544-56. doi: 10.1093/hmg/ddr592. Epub 2011 Dec 20.

33.

Use of complementary and alternative medicine by males with Duchenne or Becker muscular dystrophy.

Nabukera SK, Romitti PA, Campbell KA, Meaney FJ, Caspers KM, Mathews KD, Sherlock SM, Puzhankara S, Cunniff C, Druschel CM, Pandya S, Matthews DJ, Ciafaloni E; MD STARnet.

J Child Neurol. 2012 Jun;27(6):734-40. doi: 10.1177/0883073811426501. Epub 2011 Dec 7.

34.

Analysis of echocardiograms in a large heterogeneous cohort of patients with friedreich ataxia.

Regner SR, Lagedrost SJ, Plappert T, Paulsen EK, Friedman LS, Snyder ML, Perlman SL, Mathews KD, Wilmot GR, Schadt KA, Sutton MS, Lynch DR.

Am J Cardiol. 2012 Feb 1;109(3):401-5. doi: 10.1016/j.amjcard.2011.09.025. Epub 2011 Nov 10.

PMID:
22078220
35.

Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.

Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Howard MT, Sampson JB, Swoboda KJ, Bromberg MB, Mendell JR, Taylor LE, Anderson CB, Pestronk A, Florence JM, Connolly AM, Mathews KD, Wong B, Finkel RS, Bonnemann CG, Day JW, McDonald C; United Dystrophinopathy Project Consortium, Weiss RB.

Hum Mutat. 2011 Mar;32(3):299-308. doi: 10.1002/humu.21426.

36.

Mortality in Friedreich ataxia.

Tsou AY, Paulsen EK, Lagedrost SJ, Perlman SL, Mathews KD, Wilmot GR, Ravina B, Koeppen AH, Lynch DR.

J Neurol Sci. 2011 Aug 15;307(1-2):46-9. doi: 10.1016/j.jns.2011.05.023. Epub 2011 Jun 8.

PMID:
21652007
37.

Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I.

Mathews KD, Stephan CM, Laubenthal K, Winder TL, Michele DE, Moore SA, Campbell KP.

Neurology. 2011 Jan 11;76(2):194-5. doi: 10.1212/WNL.0b013e3182061ad4. No abstract available.

38.

Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): case definition in surveillance for childhood-onset Duchenne/Becker muscular dystrophy.

Mathews KD, Cunniff C, Kantamneni JR, Ciafaloni E, Miller T, Matthews D, Cwik V, Druschel C, Miller L, Meaney FJ, Sladky J, Romitti PA.

J Child Neurol. 2010 Sep;25(9):1098-102. doi: 10.1177/0883073810371001.

39.

Exercise-induced left ventricular systolic dysfunction in women heterozygous for dystrophinopathy.

Weiss RM, Kerber RE, Jones JK, Stephan CM, Trout CJ, Lindower PD, Staffey KS, Campbell KP, Mathews KD.

J Am Soc Echocardiogr. 2010 Aug;23(8):848-53. doi: 10.1016/j.echo.2010.05.007. Epub 2010 Jun 19.

40.

Clinical and genetic characterization of manifesting carriers of DMD mutations.

Soltanzadeh P, Friez MJ, Dunn D, von Niederhausern A, Gurvich OL, Swoboda KJ, Sampson JB, Pestronk A, Connolly AM, Florence JM, Finkel RS, Bönnemann CG, Medne L, Mendell JR, Mathews KD, Wong BL, Sussman MD, Zonana J, Kovak K, Gospe SM Jr, Gappmaier E, Taylor LE, Howard MT, Weiss RB, Flanigan KM.

Neuromuscul Disord. 2010 Aug;20(8):499-504. doi: 10.1016/j.nmd.2010.05.010. Epub 2010 Jul 13.

41.

Retinal arterial but not venous tortuosity correlates with facioscapulohumeral muscular dystrophy severity.

Longmuir SQ, Mathews KD, Longmuir RA, Joshi V, Olson RJ, Abràmoff MD.

J AAPOS. 2010 Jun;14(3):240-3. doi: 10.1016/j.jaapos.2010.03.006.

PMID:
20603058
42.

Use of corticosteroids in a population-based cohort of boys with duchenne and becker muscular dystrophy.

Matthews DJ, James KA, Miller LA, Pandya S, Campbell KA, Ciafaloni E, Mathews KD, Miller TM, Cunniff C, Meaney FJ, Druschel CM, Romitti PA, Fox DJ; MD STARnet.

J Child Neurol. 2010 Nov;25(11):1319-24. doi: 10.1177/0883073810362762. Epub 2010 Mar 5.

43.

Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design.

Friedman LS, Farmer JM, Perlman S, Wilmot G, Gomez CM, Bushara KO, Mathews KD, Subramony SH, Ashizawa T, Balcer LJ, Wilson RB, Lynch DR.

Mov Disord. 2010 Mar 15;25(4):426-32. doi: 10.1002/mds.22912.

44.

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.

Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, Sampson JB, Mendell JR, Wall C, King WM, Pestronk A, Florence JM, Connolly AM, Mathews KD, Stephan CM, Laubenthal KS, Wong BL, Morehart PJ, Meyer A, Finkel RS, Bonnemann CG, Medne L, Day JW, Dalton JC, Margolis MK, Hinton VJ; United Dystrophinopathy Project Consortium, Weiss RB.

Hum Mutat. 2009 Dec;30(12):1657-66. doi: 10.1002/humu.21114.

45.

Drug-drug interaction between clopidogrel and the proton pump inhibitors.

Norgard NB, Mathews KD, Wall GC.

Ann Pharmacother. 2009 Jul;43(7):1266-74. doi: 10.1345/aph.1M051. Epub 2009 May 26. Review.

PMID:
19470853
46.

Delayed diagnosis in duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).

Ciafaloni E, Fox DJ, Pandya S, Westfield CP, Puzhankara S, Romitti PA, Mathews KD, Miller TM, Matthews DJ, Miller LA, Cunniff C, Druschel CM, Moxley RT.

J Pediatr. 2009 Sep;155(3):380-5. doi: 10.1016/j.jpeds.2009.02.007. Epub 2009 Apr 25.

47.

Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy.

Cunniff C, Andrews J, Meaney FJ, Mathews KD, Matthews D, Ciafaloni E, Miller TM, Bodensteiner JB, Miller LA, James KA, Druschel CM, Romitti PA, Pandya S.

J Child Neurol. 2009 Apr;24(4):425-30. doi: 10.1177/0883073808324770. Epub 2008 Dec 12.

48.

Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.

Pace RA, Peat RA, Baker NL, Zamurs L, Mörgelin M, Irving M, Adams NE, Bateman JF, Mowat D, Smith NJ, Lamont PJ, Moore SA, Mathews KD, North KN, Lamandé SR.

Ann Neurol. 2008 Sep;64(3):294-303. doi: 10.1002/ana.21439.

49.

Hyperchloremic, normal anion-gap, metabolic acidosis due to topiramate.

Mathews KD, Stark JE.

Am J Health Syst Pharm. 2008 Aug 1;65(15):1430-4. doi: 10.2146/ajhp070395.

PMID:
18653813
50.

Antioxidant use in Friedreich ataxia.

Myers L, Farmer JM, Wilson RB, Friedman L, Tsou A, Perlman SL, Subramony SH, Gomez CM, Ashizawa T, Wilmot GR, Mathews KD, Balcer LJ, Lynch DR.

J Neurol Sci. 2008 Apr 15;267(1-2):174-6. Epub 2007 Nov 7.

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