Ryan MM - Search Results

1

Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.

Walsh M, Bell KM, Chong B, Creed E, Brett GR, Pope K, Thorne NP, Sadedin S, Georgeson P, Phelan DG, Day T, Taylor JA, Sexton A, Lockhart PJ, Kiers L, Fahey M, Macciocca I, Gaff CL, Oshlack A, Yiu EM, James PA, Stark Z, Ryan MM; Melbourne Genomics Health Alliance. Walsh M, et al. Among authors: ryan mm. Ann Clin Transl Neurol. 2017 Apr 26;4(5):318-325. doi: 10.1002/acn3.409. eCollection 2017 May. Ann Clin Transl Neurol. 2017. PMID: 28491899 Free PMC article.

2

Adolescent spinal muscular atrophy with calf hypertrophy and a deletion in the SMN gene.

Yiu EM, Ravat S, Ryan MM, Shield LK, Smith LJ, Kornberg AJ. Yiu EM, et al. Among authors: ryan mm. Muscle Nerve. 2008 Jul;38(1):930-2. doi: 10.1002/mus.21013. Muscle Nerve. 2008. PMID: 18508340

3

King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene.

D'Arcy CE, Bjorksten A, Yiu EM, Bankier A, Gillies R, McLean CA, Shield LK, Ryan MM. D'Arcy CE, et al. Among authors: ryan mm. Neurology. 2008 Sep 2;71(10):776-7. doi: 10.1212/01.wnl.0000324929.33780.2f. Neurology. 2008. PMID: 18765655 No abstract available.

4

Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A.

Yiu EM, Burns J, Ryan MM, Ouvrier RA. Yiu EM, et al. Among authors: ryan mm. J Peripher Nerv Syst. 2008 Sep;13(3):236-41. doi: 10.1111/j.1529-8027.2008.00182.x. J Peripher Nerv Syst. 2008. PMID: 18844790

5

Acute transverse myelitis and acute disseminated encephalomyelitis in childhood: spectrum or separate entities?

Yiu EM, Kornberg AJ, Ryan MM, Coleman LT, Mackay MT. Yiu EM, et al. Among authors: ryan mm. J Child Neurol. 2009 Mar;24(3):287-96. doi: 10.1177/0883073808323522. J Child Neurol. 2009. PMID: 19258287

6

Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial.

Burns J, Ouvrier RA, Yiu EM, Joseph PD, Kornberg AJ, Fahey MC, Ryan MM. Burns J, et al. Among authors: ryan mm. Lancet Neurol. 2009 Jun;8(6):537-44. doi: 10.1016/S1474-4422(09)70108-5. Epub 2009 May 6. Lancet Neurol. 2009. PMID: 19427269 Clinical Trial.

7

Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7.

Stark Z, Ryan MM, Bruno DL, Burgess T, Savarirayan R. Stark Z, et al. Among authors: ryan mm. Am J Med Genet A. 2010 Sep;152A(9):2342-5. doi: 10.1002/ajmg.a.33590. Am J Med Genet A. 2010. PMID: 20684011

8

A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood.

Yiu EM, Geevasinga N, Nicholson GA, Fagan ER, Ryan MM, Ouvrier RA. Yiu EM, et al. Among authors: ryan mm. Neurology. 2011 Feb 1;76(5):461-6. doi: 10.1212/WNL.0b013e31820a0ceb. Neurology. 2011. PMID: 21282593 Review.

9

Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.

Yiu EM, Klausegger A, Waddell LB, Grasern N, Lloyd L, Tran K, North KN, Bauer JW, McKelvie P, Chow CW, Ryan MM, Murrell DF. Yiu EM, et al. Among authors: ryan mm. Muscle Nerve. 2011 Jul;44(1):135-41. doi: 10.1002/mus.22076. Muscle Nerve. 2011. PMID: 21674528

10

Two novel germline KRAS mutations: expanding the molecular and clinical phenotype.

Stark Z, Gillessen-Kaesbach G, Ryan MM, Cirstea IC, Gremer L, Ahmadian MR, Savarirayan R, Zenker M. Stark Z, et al. Among authors: ryan mm. Clin Genet. 2012 Jun;81(6):590-4. doi: 10.1111/j.1399-0004.2011.01754.x. Epub 2011 Aug 18. Clin Genet. 2012. PMID: 21797849

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