Lidov HG - Search Results

1

Diagnostic value of electromyography and muscle biopsy in arthrogryposis multiplex congenita.

Kang PB, Lidov HG, David WS, Torres A, Anthony DC, Jones HR, Darras BT. Kang PB, et al. Among authors: lidov hg. Ann Neurol. 2003 Dec;54(6):790-5. doi: 10.1002/ana.10769. Ann Neurol. 2003. PMID: 14681888

2

A case of congenital glycogen storage disease type IV with a novel GBE1 mutation.

Raju GP, Li HC, Bali DS, Chen YT, Urion DK, Lidov HG, Kang PB. Raju GP, et al. Among authors: lidov hg. J Child Neurol. 2008 Mar;23(3):349-52. doi: 10.1177/0883073807309248. Epub 2008 Jan 29. J Child Neurol. 2008. PMID: 18230843

3

Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.

Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, DeChene ET, Blasko-Goehringer JM, Bönnemann CG, Darras BT, Mendell JR, Lidov HG, Nishino I, Beggs AH, Kunkel LM, Kang PB. Boyden SE, et al. Among authors: lidov hg. Neurogenetics. 2012 May;13(2):115-24. doi: 10.1007/s10048-012-0315-z. Epub 2012 Feb 28. Neurogenetics. 2012. PMID: 22371254 Free PMC article.

4

A novel mutation in two families with limb-girdle muscular dystrophy type 2C.

Duncan DR, Kang PB, Rabbat JC, Briggs CE, Lidov HG, Darras BT, Kunkel LM. Duncan DR, et al. Among authors: lidov hg. Neurology. 2006 Jul 11;67(1):167-9. doi: 10.1212/01.wnl.0000223600.78363.dd. Neurology. 2006. PMID: 16832103

5

Pediatric sciatic neuropathy associated with neoplasms.

McMillan HJ, Srinivasan J, Darras BT, Ryan MM, Davis J, Lidov HG, Gill D, Jones HR. McMillan HJ, et al. Among authors: lidov hg. Muscle Nerve. 2011 Feb;43(2):183-8. doi: 10.1002/mus.21867. Muscle Nerve. 2011. PMID: 21254082

6

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.

Boyden SE, Duncan AR, Estrella EA, Lidov HG, Mahoney LJ, Katz JS, Kunkel LM, Kang PB. Boyden SE, et al. Among authors: lidov hg. BMC Med Genet. 2011 Jun 28;12:87. doi: 10.1186/1471-2350-12-87. BMC Med Genet. 2011. PMID: 21708040 Free PMC article.

7

Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites.

Bruels CC, Li C, Mendoza T, Khan J, Reddy HM, Estrella EA, Ghosh PS, Darras BT, Lidov HGW, Pacak CA, Kunkel LM, Modave F, Draper I, Kang PB. Bruels CC, et al. Mol Genet Genomic Med. 2019 Mar;7(3):e552. doi: 10.1002/mgg3.552. Epub 2019 Jan 28. Mol Genet Genomic Med. 2019. PMID: 30688039 Free PMC article.

8

A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability.

Häusler MG, Begemann M, Lidov HG, Kurth I, Darras BT, Elbracht M. Häusler MG, et al. Among authors: lidov hg. Eur J Med Genet. 2020 Apr;63(4):103826. doi: 10.1016/j.ejmg.2019.103826. Epub 2019 Dec 16. Eur J Med Genet. 2020. PMID: 31857255

9

Variations in gene expression among different types of human skeletal muscle.

Kang PB, Kho AT, Sanoudou D, Haslett JN, Dow CP, Han M, Blasko JM, Lidov HG, Beggs AH, Kunkel LM. Kang PB, et al. Among authors: lidov hg. Muscle Nerve. 2005 Oct;32(4):483-91. doi: 10.1002/mus.20356. Muscle Nerve. 2005. PMID: 15962335

10

Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy.

Kang PB, Lidov HG, White AJ, Mitchell M, Balasubramanian A, Estrella E, Bennett RR, Darras BT, Shapiro FD, Bambach BJ, Kurtzberg J, Gussoni E, Kunkel LM. Kang PB, et al. Among authors: lidov hg. Muscle Nerve. 2010 Jun;41(6):746-50. doi: 10.1002/mus.21702. Muscle Nerve. 2010. PMID: 20513101 Free PMC article.

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