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Items: 1 to 50 of 124

1.

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.

PMID:
30227044
2.

Telomere shortening is a hallmark of genetic cardiomyopathies.

Chang ACY, Chang ACH, Kirillova A, Sasagawa K, Su W, Weber G, Lin J, Termglinchan V, Karakikes I, Seeger T, Dainis AM, Hinson JT, Seidman J, Seidman CE, Day JW, Ashley E, Wu JC, Blau HM.

Proc Natl Acad Sci U S A. 2018 Sep 11;115(37):9276-9281. doi: 10.1073/pnas.1714538115. Epub 2018 Aug 27.

3.

Ambulatory function in spinal muscular atrophy: Age-related patterns of progression.

Montes J, McDermott MP, Mirek E, Mazzone ES, Main M, Glanzman AM, Duong T, Young SD, Salazar R, Pasternak A, Gee R, De Sanctis R, Coratti G, Forcina N, Fanelli L, Ramsey D, Milev E, Civitello M, Pane M, Pera MC, Scoto M, Day JW, Tennekoon G, Finkel RS, Darras BT, Muntoni F, De Vivo DC, Mercuri E.

PLoS One. 2018 Jun 26;13(6):e0199657. doi: 10.1371/journal.pone.0199657. eCollection 2018.

4.

Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function.

Salazar R, Montes J, Dunaway Young S, McDermott MP, Martens W, Pasternak A, Quigley J, Mirek E, Glanzman AM, Civitello M, Gee R, Duong T, Mazzone ES, Main M, Mayhew A, Ramsey D, Muni Lofra R, Coratti G, Fanelli L, De Sanctis R, Forcina N, Chiriboga C, Darras BT, Tennekoon GI, Scoto M, Day JW, Finkel R, Muntoni F, Mercuri E, De Vivo DC.

Pediatr Phys Ther. 2018 Jul;30(3):209-215. doi: 10.1097/PEP.0000000000000515.

PMID:
29924070
5.

Evaluator Training and Reliability for SMA Global Nusinersen Trials1.

Glanzman AM, Mazzone ES, Young SD, Gee R, Rose K, Mayhew A, Nelson L, Yun C, Alexander K, Darras BT, Zolkipli-Cunningham Z, Tennekoon G, Day JW, Finkel RS, Mercuri E, De Vivo DC, Baldwin R, Bishop KM, Montes J.

J Neuromuscul Dis. 2018;5(2):159-166. doi: 10.3233/JND-180301.

6.

A Rapid and Robust Diagnostic for Liver Fibrosis Using a Multichannel Polymer Sensor Array.

Peveler WJ, Landis RF, Yazdani M, Day JW, Modi R, Carmalt CJ, Rosenberg WM, Rotello VM.

Adv Mater. 2018 Jul;30(28):e1800634. doi: 10.1002/adma.201800634. Epub 2018 May 24.

PMID:
29797373
7.

rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences.

Sellier C, Cerro-Herreros E, Blatter M, Freyermuth F, Gaucherot A, Ruffenach F, Sarkar P, Puymirat J, Udd B, Day JW, Meola G, Bassez G, Fujimura H, Takahashi MP, Schoser B, Furling D, Artero R, Allain FHT, Llamusi B, Charlet-Berguerand N.

Nat Commun. 2018 May 22;9(1):2009. doi: 10.1038/s41467-018-04370-x.

8.

Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials.

Diaz-Manera J, Fernandez-Torron R, LLauger J, James MK, Mayhew A, Smith FE, Moore UR, Blamire AM, Carlier PG, Rufibach L, Mittal P, Eagle M, Jacobs M, Hodgson T, Wallace D, Ward L, Smith M, Stramare R, Rampado A, Sato N, Tamaru T, Harwick B, Rico Gala S, Turk S, Coppenrath EM, Foster G, Bendahan D, Le Fur Y, Fricke ST, Otero H, Foster SL, Peduto A, Sawyer AM, Hilsden H, Lochmuller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V; Jain COS Consortium.

J Neurol Neurosurg Psychiatry. 2018 Oct;89(10):1071-1081. doi: 10.1136/jnnp-2017-317488. Epub 2018 May 7.

9.

Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.

Hahn SH, Kronn D, Leslie ND, Pena LDM, Tanpaiboon P, Gambello MJ, Gibson JB, Hillman R, Stockton DW, Day JW, Wang RY, An Haack K, Shafi R, Sparks S, Zhao Y, Wilson C, Kishnani PS.

Genet Med. 2018 Mar 22. doi: 10.1038/gim.2018.2. [Epub ahead of print]

PMID:
29565424
10.

Humanizing the mdx mouse model of DMD: the long and the short of it.

Yucel N, Chang AC, Day JW, Rosenthal N, Blau HM.

NPJ Regen Med. 2018 Feb 16;3:4. doi: 10.1038/s41536-018-0045-4. eCollection 2018. Review.

11.

Charcot Marie Tooth disease type 4J with complex central nervous system features.

Orengo JP, Khemani P, Day JW, Li J, Siskind CE.

Ann Clin Transl Neurol. 2018 Jan 22;5(2):222-225. doi: 10.1002/acn3.525. eCollection 2018 Feb.

12.

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.

Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone ES, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W, Schneider E, De Vivo DC, Finkel RS; CHERISH Study Group.

N Engl J Med. 2018 Feb 15;378(7):625-635. doi: 10.1056/NEJMoa1710504.

13.

Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study.

Moore UR, Jacobs M, Fernandez-Torron R, Jang J, James MK, Mayhew A, Rufibach L, Mittal P, Eagle M, Cnaan A, Carlier PG, Blamire A, Hilsden H, Lochmüller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Diaz-Manera J, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V.

J Neurol Neurosurg Psychiatry. 2018 Jan 29. pii: jnnp-2017-317329. doi: 10.1136/jnnp-2017-317329. [Epub ahead of print] No abstract available.

14.

Luis Alejandro Yáñez-Arancibia 1944-2016.

Day JW, Sánchez Gil P, Sepúlveda Lozada A.

J Fish Biol. 2018 Feb;92(2):293-297. doi: 10.1111/jfb.13522. Epub 2017 Dec 20. No abstract available.

PMID:
29266215
15.

Modeling impacts of sea-level rise, oil price, and management strategy on the costs of sustaining Mississippi delta marshes with hydraulic dredging.

Wiegman ARH, Day JW, D'Elia CF, Rutherford JS, Morris JT, Roy ED, Lane RR, Dismukes DE, Snyder BF.

Sci Total Environ. 2018 Mar 15;618:1547-1559. doi: 10.1016/j.scitotenv.2017.09.314. Epub 2017 Oct 27.

PMID:
29107369
16.

The impact of two large floods (1993-1994) on sediment deposition in the Rhône delta: Implications for sustainable management.

Pont D, Day JW, Ibáñez C.

Sci Total Environ. 2017 Dec 31;609:251-262. doi: 10.1016/j.scitotenv.2017.07.155. Epub 2017 Jul 23.

PMID:
28746892
17.

Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study.

Finkel RS, Chiriboga CA, Vajsar J, Day JW, Montes J, De Vivo DC, Yamashita M, Rigo F, Hung G, Schneider E, Norris DA, Xia S, Bennett CF, Bishop KM.

Lancet. 2016 Dec 17;388(10063):3017-3026. doi: 10.1016/S0140-6736(16)31408-8. Epub 2016 Dec 7.

PMID:
27939059
18.

Revised upper limb module for spinal muscular atrophy: Development of a new module.

Mazzone ES, Mayhew A, Montes J, Ramsey D, Fanelli L, Young SD, Salazar R, De Sanctis R, Pasternak A, Glanzman A, Coratti G, Civitello M, Forcina N, Gee R, Duong T, Pane M, Scoto M, Pera MC, Messina S, Tennekoon G, Day JW, Darras BT, De Vivo DC, Finkel R, Muntoni F, Mercuri E.

Muscle Nerve. 2017 Jun;55(6):869-874. doi: 10.1002/mus.25430. Epub 2017 Feb 6.

PMID:
27701745
19.

The Clinical Outcome Study for dysferlinopathy: An international multicenter study.

Harris E, Bladen CL, Mayhew A, James M, Bettinson K, Moore U, Smith FE, Rufibach L, Cnaan A, Bharucha-Goebel DX, Blamire AM, Bravver E, Carlier PG, Day JW, Díaz-Manera J, Eagle M, Grieben U, Harms M, Jones KJ, Lochmüller H, Mendell JR, Mori-Yoshimura M, Paradas C, Pegoraro E, Pestronk A, Salort-Campana E, Schreiber-Katz O, Semplicini C, Spuler S, Stojkovic T, Straub V, Takeda S, Rocha CT, Walter MC, Bushby K; Jain COS Consortium.

Neurol Genet. 2016 Aug 4;2(4):e89. doi: 10.1212/NXG.0000000000000089. eCollection 2016 Aug.

20.

Clinical Follow-Up for Duchenne Muscular Dystrophy Newborn Screening: A Proposal.

Kwon JM, Abdel-Hamid HZ, Al-Zaidy SA, Mendell JR, Kennedy A, Kinnett K, Cwik VA, Street N, Bolen J, Day JW, Connolly AM.

Muscle Nerve. 2016 Aug;54(2):186-91. doi: 10.1002/mus.25185. Epub 2016 Jun 13.

21.

Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy.

Sullivan JM, Zimanyi CM, Aisenberg W, Bears B, Chen DH, Day JW, Bird TD, Siskind CE, Gaudet R, Sumner CJ.

Neurol Genet. 2015 Oct 22;1(4):e29. doi: 10.1212/NXG.0000000000000029. eCollection 2015 Dec.

22.

Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy.

Freyermuth F, Rau F, Kokunai Y, Linke T, Sellier C, Nakamori M, Kino Y, Arandel L, Jollet A, Thibault C, Philipps M, Vicaire S, Jost B, Udd B, Day JW, Duboc D, Wahbi K, Matsumura T, Fujimura H, Mochizuki H, Deryckere F, Kimura T, Nukina N, Ishiura S, Lacroix V, Campan-Fournier A, Navratil V, Chautard E, Auboeuf D, Horie M, Imoto K, Lee KY, Swanson MS, Lopez de Munain A, Inada S, Itoh H, Nakazawa K, Ashihara T, Wang E, Zimmer T, Furling D, Takahashi MP, Charlet-Berguerand N.

Nat Commun. 2016 Apr 11;7:11067. doi: 10.1038/ncomms11067.

23.

Clinical trial readiness in non-ambulatory boys and men with duchenne muscular dystrophy: MDA-DMD network follow-up.

Connolly AM, Florence JM, Zaidman CM, Golumbek PT, Mendell JR, Flanigan KM, Karachunski PI, Day JW, McDonald CM, Darras BT, Kang PB, Siener CA, Gadeken RK, Anand P, Schierbecker JR, Malkus EC, Lowes LP, Alfano LN, Johnson L, Nicorici A, Kelecic JM, Quigley J, Pasternak AE, Miller JP; MDA-DMD Clinical Research Network.

Muscle Nerve. 2016 Oct;54(4):681-9. doi: 10.1002/mus.25089. Epub 2016 May 10.

PMID:
26930423
24.

Precise Correction of Disease Mutations in Induced Pluripotent Stem Cells Derived From Patients With Limb Girdle Muscular Dystrophy.

Turan S, Farruggio AP, Srifa W, Day JW, Calos MP.

Mol Ther. 2016 Apr;24(4):685-96. doi: 10.1038/mt.2016.40. Epub 2016 Feb 26.

25.

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

Sanmaneechai O, Feely S, Scherer SS, Herrmann DN, Burns J, Muntoni F, Li J, Siskind CE, Day JW, Laura M, Sumner CJ, Lloyd TE, Ramchandren S, Shy RR, Grider T, Bacon C, Finkel RS, Yum SW, Moroni I, Piscosquito G, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium - Rare Disease Clinical Research Consortium (INC-RDCRC).

Brain. 2015 Nov;138(Pt 11):3180-92. doi: 10.1093/brain/awv241. Epub 2015 Aug 25.

26.

MBNL Sequestration by Toxic RNAs and RNA Misprocessing in the Myotonic Dystrophy Brain.

Goodwin M, Mohan A, Batra R, Lee KY, Charizanis K, Fernández Gómez FJ, Eddarkaoui S, Sergeant N, Buée L, Kimura T, Clark HB, Dalton J, Takamura K, Weyn-Vanhentenryck SM, Zhang C, Reid T, Ranum LP, Day JW, Swanson MS.

Cell Rep. 2015 Aug 18;12(7):1159-68. doi: 10.1016/j.celrep.2015.07.029. Epub 2015 Aug 6.

27.

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.

28.

Outcome reliability in non-ambulatory boys/men with Duchenne muscular dystrophy.

Connolly AM, Malkus EC, Mendell JR, Flanigan KM, Miller JP, Schierbecker JR, Siener CA, Golumbek PT, Zaidman CM, Mcdonald CM, Johnson L, Nicorici A, Karachunski PI, Day JW, Kelecic JM, Lowes LP, Alfano LN, Darras BT, Kang PB, Quigley J, Pasternak AE, Florence JM; MDA DMD Clinical Research Network.

Muscle Nerve. 2015 Apr;51(4):522-32. doi: 10.1002/mus.24346. Epub 2015 Feb 11.

29.

Ataluren treatment of patients with nonsense mutation dystrophinopathy.

Bushby K, Finkel R, Wong B, Barohn R, Campbell C, Comi GP, Connolly AM, Day JW, Flanigan KM, Goemans N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B, Ryan MM, Tulinius M, Voit T, Moore SA, Lee Sweeney H, Abresch RT, Coleman KL, Eagle M, Florence J, Gappmaier E, Glanzman AM, Henricson E, Barth J, Elfring GL, Reha A, Spiegel RJ, O'donnell MW, Peltz SW, Mcdonald CM; PTC124-GD-007-DMD STUDY GROUP.

Muscle Nerve. 2014 Oct;50(4):477-87. doi: 10.1002/mus.24332.

30.

Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations.

Raphael AR, Couthouis J, Sakamuri S, Siskind C, Vogel H, Day JW, Gitler AD.

Brain Res. 2014 Aug 5;1575:66-71. doi: 10.1016/j.brainres.2014.04.028. Epub 2014 Apr 26.

31.

Tractography reveals diffuse white matter abnormalities in Myotonic Dystrophy Type 1.

Wozniak JR, Mueller BA, Lim KO, Hemmy LS, Day JW.

J Neurol Sci. 2014 Jun 15;341(1-2):73-8. doi: 10.1016/j.jns.2014.04.005. Epub 2014 Apr 13.

32.

Spinocerebellar Ataxia Type 8.

Ayhan F, Ikeda Y, Dalton JC, Day JW, Ranum LPW.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2001 Nov 27 [updated 2014 Apr 3].

33.

Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy.

Couthouis J, Raphael AR, Siskind C, Findlay AR, Buenrostro JD, Greenleaf WJ, Vogel H, Day JW, Flanigan KM, Gitler AD.

Neuromuscul Disord. 2014 May;24(5):431-5. doi: 10.1016/j.nmd.2014.01.014. Epub 2014 Feb 10.

34.

A hydrophobic site on the GLP-1 receptor extracellular domain orients the peptide ligand for signal transduction.

Patterson JT, Li P, Day JW, Gelfanov VM, Dimarchi RD.

Mol Metab. 2013 Jan 16;2(2):86-91. doi: 10.1016/j.molmet.2013.01.003. eCollection 2013.

35.

Role of telomere dysfunction in cardiac failure in Duchenne muscular dystrophy.

Mourkioti F, Kustan J, Kraft P, Day JW, Zhao MM, Kost-Alimova M, Protopopov A, DePinho RA, Bernstein D, Meeker AK, Blau HM.

Nat Cell Biol. 2013 Aug;15(8):895-904. doi: 10.1038/ncb2790. Epub 2013 Jul 7.

36.

Myotonic Dystrophy Type 2.

Dalton JC, Ranum LPW, Day JW.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2006 Sep 21 [updated 2013 Jul 3].

37.

Diagnostic odyssey of patients with myotonic dystrophy.

Hilbert JE, Ashizawa T, Day JW, Luebbe EA, Martens WB, McDermott MP, Tawil R, Thornton CA, Moxley RT 3rd.

J Neurol. 2013 Oct;260(10):2497-504. doi: 10.1007/s00415-013-6993-0. Epub 2013 Jun 27.

38.

Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network.

Connolly AM, Florence JM, Cradock MM, Malkus EC, Schierbecker JR, Siener CA, Wulf CO, Anand P, Golumbek PT, Zaidman CM, Philip Miller J, Lowes LP, Alfano LN, Viollet-Callendret L, Flanigan KM, Mendell JR, McDonald CM, Goude E, Johnson L, Nicorici A, Karachunski PI, Day JW, Dalton JC, Farber JM, Buser KK, Darras BT, Kang PB, Riley SO, Shriber E, Parad R, Bushby K, Eagle M; MDA DMD Clinical Research Network.

Neuromuscul Disord. 2013 Jul;23(7):529-39. doi: 10.1016/j.nmd.2013.04.005. Epub 2013 May 28.

39.

Identification of metal ion binding peptides containing unnatural amino acids by phage display.

Day JW, Kim CH, Smider VV, Schultz PG.

Bioorg Med Chem Lett. 2013 May 1;23(9):2598-600. doi: 10.1016/j.bmcl.2013.02.106. Epub 2013 Mar 7.

PMID:
23541674
40.

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.

41.

A focal domain of extreme demethylation within D4Z4 in FSHD2.

Hartweck LM, Anderson LJ, Lemmers RJ, Dandapat A, Toso EA, Dalton JC, Tawil R, Day JW, van der Maarel SM, Kyba M.

Neurology. 2013 Jan 22;80(4):392-9. doi: 10.1212/WNL.0b013e31827f075c. Epub 2013 Jan 2.

42.

Optimization of co-agonism at GLP-1 and glucagon receptors to safely maximize weight reduction in DIO-rodents.

Day JW, Gelfanov V, Smiley D, Carrington PE, Eiermann G, Chicchi G, Erion MD, Gidda J, Thornberry NA, Tschöp MH, Marsh DJ, SinhaRoy R, DiMarchi R, Pocai A.

Biopolymers. 2012;98(5):443-50. doi: 10.1002/bip.22072.

PMID:
23203689
43.

Diffusion tensor imaging reveals widespread white matter abnormalities in children and adolescents with myotonic dystrophy type 1.

Wozniak JR, Mueller BA, Bell CJ, Muetzel RL, Lim KO, Day JW.

J Neurol. 2013 Apr;260(4):1122-31. doi: 10.1007/s00415-012-6771-4. Epub 2012 Nov 29.

44.

Cerebral and muscle MRI abnormalities in myotonic dystrophy.

Franc DT, Muetzel RL, Robinson PR, Rodriguez CP, Dalton JC, Naughton CE, Mueller BA, Wozniak JR, Lim KO, Day JW.

Neuromuscul Disord. 2012 Jun;22(6):483-91. doi: 10.1016/j.nmd.2012.01.003. Epub 2012 Jan 30.

45.

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.

46.

2010 Marigold therapeutic strategies for myotonic dystrophy.

Blonsky K, Monckton D, Wieringa B, Schoser B, Day JW, Engelen Bv.

Neuromuscul Disord. 2012 Jan;22(1):87-94. doi: 10.1016/j.nmd.2011.06.747. Epub 2011 Aug 17. No abstract available.

PMID:
21852134
47.

Clinical and genetic features of spinocerebellar ataxia type 8.

Ikeda Y, Ranum LP, Day JW.

Handb Clin Neurol. 2012;103:493-505. doi: 10.1016/B978-0-444-51892-7.00031-0. Review. No abstract available.

PMID:
21827909
48.

Spinocerebellar ataxia type 5.

Dick KA, Ikeda Y, Day JW, Ranum LP.

Handb Clin Neurol. 2012;103:451-9. doi: 10.1016/B978-0-444-51892-7.00028-0. Review.

PMID:
21827906
49.

Randomized, blinded trial of weekend vs daily prednisone in Duchenne muscular dystrophy.

Escolar DM, Hache LP, Clemens PR, Cnaan A, McDonald CM, Viswanathan V, Kornberg AJ, Bertorini TE, Nevo Y, Lotze T, Pestronk A, Ryan MM, Monasterio E, Day JW, Zimmerman A, Arrieta A, Henricson E, Mayhew J, Florence J, Hu F, Connolly AM.

Neurology. 2011 Aug 2;77(5):444-52. doi: 10.1212/WNL.0b013e318227b164. Epub 2011 Jul 13.

50.

Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy.

Rau F, Freyermuth F, Fugier C, Villemin JP, Fischer MC, Jost B, Dembele D, Gourdon G, Nicole A, Duboc D, Wahbi K, Day JW, Fujimura H, Takahashi MP, Auboeuf D, Dreumont N, Furling D, Charlet-Berguerand N.

Nat Struct Mol Biol. 2011 Jun 19;18(7):840-5. doi: 10.1038/nsmb.2067.

PMID:
21685920

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