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Items: 8

1.

Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.

Haskell GT, Adams MC, Fan Z, Amin K, Guzman Badillo RJ, Zhou L, Bizon C, Chahin N, Greenwood RS, Milko LV, Shiloh-Malawsky Y, Crooks KR, Strande N, Tennison M, Tilley CR, Brandt A, Wilhelmsen KC, Weck K, Evans JP, Berg JS.

Neurol Genet. 2018 Feb 1;4(1):e212. doi: 10.1212/NXG.0000000000000212. eCollection 2018 Feb.

2.

A rare case of congenital myopathy with excess muscle spindles: expanding the clinical spectrum of HRAS-associated neuromuscular disease.

Henry JM, Chahin N, Shiloh-Malawsky Y, Fan Z, Selcen D.

J Neurol. 2015 Jun;262(6):1587-9. doi: 10.1007/s00415-015-7775-7. Epub 2015 May 23. No abstract available.

PMID:
26001911
3.

GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia.

Fan Z, Greenwood R, Felix AC, Shiloh-Malawsky Y, Tennison M, Roche M, Crooks K, Weck K, Wilhelmsen K, Berg J, Evans J.

J Neurol. 2014 Mar;261(3):622-4. doi: 10.1007/s00415-014-7265-3. Epub 2014 Feb 8. No abstract available.

4.

Characteristics of magnetic resonance imaging biomarkers in a natural history study of golden retriever muscular dystrophy.

Fan Z, Wang J, Ahn M, Shiloh-Malawsky Y, Chahin N, Elmore S, Bagnell CR Jr, Wilber K, An H, Lin W, Zhu H, Styner M, Kornegay JN.

Neuromuscul Disord. 2014 Feb;24(2):178-91. doi: 10.1016/j.nmd.2013.10.005. Epub 2013 Oct 30.

5.

A computerized MRI biomarker quantification scheme for a canine model of Duchenne muscular dystrophy.

Wang J, Fan Z, Vandenborne K, Walter G, Shiloh-Malawsky Y, An H, Kornegay JN, Styner MA.

Int J Comput Assist Radiol Surg. 2013 Sep;8(5):763-74. doi: 10.1007/s11548-012-0810-6. Epub 2013 Jan 9.

6.

Analysis of complement and plasma cells in the brain of patients with anti-NMDAR encephalitis.

Martinez-Hernandez E, Horvath J, Shiloh-Malawsky Y, Sangha N, Martinez-Lage M, Dalmau J.

Neurology. 2011 Aug 9;77(6):589-93. doi: 10.1212/WNL.0b013e318228c136. Epub 2011 Jul 27.

7.

Successful treatment of childhood prolonged refractory status epilepticus with lacosamide.

Shiloh-Malawsky Y, Fan Z, Greenwood R, Tennison M.

Seizure. 2011 Sep;20(7):586-8. doi: 10.1016/j.seizure.2011.03.005. Epub 2011 Apr 7.

8.

Mastocytosis: the pediatric emergency physician's perspective.

Shiloh-Malawsky Y, Confino Y, Yosipovitz A, Nass D, Augarten A.

Pediatr Emerg Care. 2003 Jun;19(3):172-3. No abstract available.

PMID:
12813304

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