Shaibani A - Search Results

1

Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.

Shaibani A, Shchelochkov OA, Zhang S, Katsonis P, Lichtarge O, Wong LJ, Shinawi M. Shaibani A, et al. Arch Neurol. 2009 Aug;66(8):1028-32. doi: 10.1001/archneurol.2009.139. Arch Neurol. 2009. PMID: 19667227 Free PMC article.

2

Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation.

Shchelochkov O, Wong LJ, Shaibani A, Shinawi M. Shchelochkov O, et al. Among authors: shaibani a. Muscle Nerve. 2009 Mar;39(3):374-82. doi: 10.1002/mus.21157. Muscle Nerve. 2009. PMID: 19208414

3

Progressive myopathy with multiple symmetric lipomatosis.

Brunetti-Pierri N, Shaibani A, Zhang S, Wong LJ, Shinawi M. Brunetti-Pierri N, et al. Among authors: shaibani a. Arch Neurol. 2009 Dec;66(12):1576-7. doi: 10.1001/archneurol.2009.239. Arch Neurol. 2009. PMID: 20008669 No abstract available.

4

Clinical and biochemical improvement of very long-chain acyl-CoA dehydrogenase deficiency in pregnancy.

Mendez-Figueroa H, Shchelochkov OA, Shaibani A, Aagaard-Tillery K, Shinawi MS. Mendez-Figueroa H, et al. Among authors: shaibani a. J Perinatol. 2010 Aug;30(8):558-62. doi: 10.1038/jp.2009.198. J Perinatol. 2010. PMID: 20668464

5

Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene.

Shaibani A, Wong LJ, Wei Zhang V, Lewis RA, Shinawi M. Shaibani A, et al. Int J Neurosci. 2015 Jan;125(1):43-9. doi: 10.3109/00207454.2014.904858. Epub 2014 May 16. Int J Neurosci. 2015. PMID: 24628582

6

Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia.

Shaibani A, Khan S, Shinawi M. Shaibani A, et al. Neurol Genet. 2021 Jul 16;7(4):e612. doi: 10.1212/NXG.0000000000000612. eCollection 2021 Aug. Neurol Genet. 2021. PMID: 34291158 Free PMC article.

7

POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria.

Bekheirnia MR, Zhang W, Eble T, Willis A, Shaibani A, Wong LJ, Scaglia F, Dhar SU. Bekheirnia MR, et al. Among authors: shaibani a. Gene. 2012 May 10;499(1):209-12. doi: 10.1016/j.gene.2012.02.034. Epub 2012 Mar 3. Gene. 2012. PMID: 22405928

8

Alternative splicing factor ASF/SF2 is down regulated in inflamed muscle.

Xiong Z, Shaibani A, Li YP, Yan Y, Zhang S, Yang Y, Yang F, Wang H, Yang XF. Xiong Z, et al. Among authors: shaibani a. J Clin Pathol. 2006 Aug;59(8):855-61. doi: 10.1136/jcp.2005.032961. Epub 2006 Mar 30. J Clin Pathol. 2006. PMID: 16574722 Free PMC article.

9

Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices: The IPaNeMA Study.

Wencel M, Shaibani A, Goyal NA, Dimachkie MM, Trivedi J, Johnson NE, Gutmann L, Wicklund MP, Bandyopadhay S, Genge AL, Freimer ML, Goyal N, Pestronk A, Florence J, Karam C, Ralph JW, Rasheed Z, Hays M, Hopkins S, Mozaffar T. Wencel M, et al. Among authors: shaibani a. Neurol Genet. 2021 Oct 18;7(6):e623. doi: 10.1212/NXG.0000000000000623. eCollection 2021 Dec. Neurol Genet. 2021. PMID: 36299500 Free PMC article.

10

Transient hydrocephalus as a presenting sign associated with adrenoleukodystrophy.

Wong M, Shaibani A, Lee BC. Wong M, et al. Among authors: shaibani a. Neurology. 1999 Jan 15;52(2):424-5. doi: 10.1212/wnl.52.2.424. Neurology. 1999. PMID: 9932976 No abstract available.

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