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Results: 1 to 20 of 156

1.

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.

PMID:
25042182
[PubMed - in process]
Free PMC Article
2.

Observations of body mass index in Duchenne muscular dystrophy: a longitudinal study.

Davidson ZE, Ryan MM, Kornberg AJ, Sinclair K, Cairns A, Walker KZ, Truby H.

Eur J Clin Nutr. 2014 Aug;68(8):892-7. doi: 10.1038/ejcn.2014.93. Epub 2014 May 14.

PMID:
24824013
[PubMed - in process]
3.

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.

Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, Yang Y, Gibbs RA.

Am J Hum Genet. 2014 May 1;94(5):784-9. doi: 10.1016/j.ajhg.2014.04.006.

PMID:
24791903
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Strong Correlation Between the 6-Minute Walk Test and Accelerometry Functional Outcomes in Boys With Duchenne Muscular Dystrophy.

Davidson ZE, Ryan MM, Kornberg AJ, Walker KZ, Truby H.

J Child Neurol. 2014 Apr 23. [Epub ahead of print]

PMID:
24762862
[PubMed - as supplied by publisher]
5.

Natural history of pulmonary function in collagen VI-related myopathies.

Foley AR, Quijano-Roy S, Collins J, Straub V, McCallum M, Deconinck N, Mercuri E, Pane M, D'Amico A, Bertini E, North K, Ryan MM, Richard P, Allamand V, Hicks D, Lamandé S, Hu Y, Gualandi F, Auh S, Muntoni F, Bönnemann CG.

Brain. 2013 Dec;136(Pt 12):3625-33. doi: 10.1093/brain/awt284. Epub 2013 Nov 22.

PMID:
24271325
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Pediatric Guillain-Barré syndrome.

Ryan MM.

Curr Opin Pediatr. 2013 Dec;25(6):689-93. doi: 10.1097/MOP.0b013e328365ad3f. Review.

PMID:
24240288
[PubMed - indexed for MEDLINE]
7.

(un) Disciplining the nurse writer: doctoral nursing students' perspective on writing capacity.

Ryan MM, Walker M, Scaia M, Smith V.

Nurs Inq. 2014 Dec;21(4):294-300. doi: 10.1111/nin.12045. Epub 2013 Jul 23.

PMID:
23876166
[PubMed - in process]
8.

Time-dependent changes in gene expression induced by secreted amyloid precursor protein-alpha in the rat hippocampus.

Ryan MM, Morris GP, Mockett BG, Bourne K, Abraham WC, Tate WP, Williams JM.

BMC Genomics. 2013 Jun 6;14:376. doi: 10.1186/1471-2164-14-376.

PMID:
23742273
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

High resolution chromosomal microarray in undiagnosed neurological disorders.

Howell KB, Kornberg AJ, Harvey AS, Ryan MM, Mackay MT, Freeman JL, Rodriguez Casero MV, Collins KJ, Hayman M, Mohamed A, Ware TL, Clark D, Bruno DL, Burgess T, Slater H, McGillivray G, Leventer RJ.

J Paediatr Child Health. 2013 Sep;49(9):716-24. doi: 10.1111/jpc.12256. Epub 2013 Jun 3.

PMID:
23731025
[PubMed - indexed for MEDLINE]
10.

Neuromuscular complications of intensive care.

Mohamed A, Ryan MM.

Handb Clin Neurol. 2013;113:1481-3. doi: 10.1016/B978-0-444-59565-2.00017-4. Review.

PMID:
23622370
[PubMed - indexed for MEDLINE]
11.

Childhood chronic inflammatory demyelinating polyneuropathy: an overview of 10 cases in the modern era.

Ware TL, Kornberg AJ, Rodriguez-Casero MV, Ryan MM.

J Child Neurol. 2014 Jan;29(1):43-8. doi: 10.1177/0883073812471719. Epub 2013 Jan 29.

PMID:
23364655
[PubMed - indexed for MEDLINE]
12.

A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene.

Kennerson ML, Yiu EM, Chuang DT, Kidambi A, Tso SC, Ly C, Chaudhry R, Drew AP, Rance G, Delatycki MB, Züchner S, Ryan MM, Nicholson GA.

Hum Mol Genet. 2013 Apr 1;22(7):1404-16. doi: 10.1093/hmg/dds557. Epub 2013 Jan 7.

PMID:
23297365
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.

Rudnik-Schöneborn S, Senderek J, Jen JC, Houge G, Seeman P, Puchmajerová A, Graul-Neumann L, Seidel U, Korinthenberg R, Kirschner J, Seeger J, Ryan MM, Muntoni F, Steinlin M, Sztriha L, Colomer J, Hübner C, Brockmann K, Van Maldergem L, Schiff M, Holzinger A, Barth P, Reardon W, Yourshaw M, Nelson SF, Eggermann T, Zerres K.

Neurology. 2013 Jan 29;80(5):438-46. doi: 10.1212/WNL.0b013e31827f0f66. Epub 2013 Jan 2.

PMID:
23284067
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Venlafaxine ingestion in a 4-year-old girl.

Ware TL, McCloskey K, Ryan MM, Cranswick N.

J Paediatr Child Health. 2012 Nov;48(11):1047-8. doi: 10.1111/j.1440-1754.2012.02600.x. No abstract available.

PMID:
23126398
[PubMed - indexed for MEDLINE]
15.

Binaural speech processing in individuals with auditory neuropathy.

Rance G, Ryan MM, Carew P, Corben LA, Yiu E, Tan J, Delatycki MB.

Neuroscience. 2012 Dec 13;226:227-35. doi: 10.1016/j.neuroscience.2012.08.054. Epub 2012 Sep 13.

PMID:
22982232
[PubMed - indexed for MEDLINE]
16.

Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset.

Yiu EM, Ryan MM.

J Peripher Nerv Syst. 2012 Sep;17(3):285-300. doi: 10.1111/j.1529-8027.2012.00412.x. Review.

PMID:
22971091
[PubMed - indexed for MEDLINE]
17.

Juvenile Parkinsonism.

Ware TL, Srinivasan J, Gonzalez L, Hardikar W, Scheinberg AM, Baker L, Prakash C, Ryan MM.

J Paediatr Child Health. 2013 May;49(5):409-11. doi: 10.1111/j.1440-1754.2012.02555.x. Epub 2012 Sep 13.

PMID:
22970882
[PubMed - indexed for MEDLINE]
18.

A family with 2 X-linked disorders: Charcot-Marie-Tooth disease and hemophilia A.

Shahrizaila N, Goh KJ, Ahmad-Annuar A, Chaudhry R, Ly C, Ryan MM, Nicholson G, Kennerson M.

Muscle Nerve. 2012 Sep;46(3):454-5. doi: 10.1002/mus.23346. No abstract available.

PMID:
22907240
[PubMed - indexed for MEDLINE]
19.

Temporal profiling of gene networks associated with the late phase of long-term potentiation in vivo.

Ryan MM, Ryan B, Kyrke-Smith M, Logan B, Tate WP, Abraham WC, Williams JM.

PLoS One. 2012;7(7):e40538. doi: 10.1371/journal.pone.0040538. Epub 2012 Jul 10.

PMID:
22802965
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.

Wan J, Yourshaw M, Mamsa H, Rudnik-Schöneborn S, Menezes MP, Hong JE, Leong DW, Senderek J, Salman MS, Chitayat D, Seeman P, von Moers A, Graul-Neumann L, Kornberg AJ, Castro-Gago M, Sobrido MJ, Sanefuji M, Shieh PB, Salamon N, Kim RC, Vinters HV, Chen Z, Zerres K, Ryan MM, Nelson SF, Jen JC.

Nat Genet. 2012 Apr 29;44(6):704-8. doi: 10.1038/ng.2254.

PMID:
22544365
[PubMed - indexed for MEDLINE]
Free PMC Article

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