Bohlega S - Search Results

1

A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.

Monies D, Alhindi HN, Almuhaizea MA, Abouelhoda M, Alazami AM, Goljan E, Alyounes B, Jaroudi D, AlIssa A, Alabdulrahman K, Subhani S, El-Kalioby M, Faquih T, Wakil SM, Altassan NA, Meyer BF, Bohlega S. Monies D, et al. Among authors: bohlega s. Hum Genomics. 2016 Sep 27;10(1):32. doi: 10.1186/s40246-016-0089-8. Hum Genomics. 2016. PMID: 27671536 Free PMC article.

2

Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3.

Kambouris M, Bohlega S, Al-Tahan A, Meyer BF. Kambouris M, et al. Among authors: bohlega s. Am J Hum Genet. 2000 Feb;66(2):445-52. doi: 10.1086/302744. Am J Hum Genet. 2000. PMID: 10677304 Free PMC article.

3

A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14.

Hodgkinson CA, Bohlega S, Abu-Amero SN, Cupler E, Kambouris M, Meyer BF, Bharucha VA. Hodgkinson CA, et al. Among authors: bohlega s. Neurology. 2002 Dec 24;59(12):1905-9. doi: 10.1212/01.wnl.0000036909.49629.21. Neurology. 2002. PMID: 12499481

4

Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings.

Bohlega S, Lach B, Meyer BF, Al Said Y, Kambouris M, Al Homsi M, Cupler EJ. Bohlega S, et al. Neurology. 2003 Dec 9;61(11):1519-23. doi: 10.1212/01.wnl.0000096022.09887.9d. Neurology. 2003. PMID: 14663035

5

Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.

Bohlega S, Abu-Amero SN, Wakil SM, Carroll P, Al-Amr R, Lach B, Al-Sayed Y, Cupler EJ, Meyer BF. Bohlega S, et al. Neurology. 2004 May 11;62(9):1518-21. doi: 10.1212/01.wnl.0000123255.92062.37. Neurology. 2004. PMID: 15136674

6

Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.

Alazami AM, Al-Saif A, Al-Semari A, Bohlega S, Zlitni S, Alzahrani F, Bavi P, Kaya N, Colak D, Khalak H, Baltus A, Peterlin B, Danda S, Bhatia KP, Schneider SA, Sakati N, Walsh CA, Al-Mohanna F, Meyer B, Alkuraya FS. Alazami AM, et al. Among authors: bohlega s. Am J Hum Genet. 2008 Dec;83(6):684-91. doi: 10.1016/j.ajhg.2008.10.018. Epub 2008 Nov 20. Am J Hum Genet. 2008. PMID: 19026396 Free PMC article.

7

A novel syndromic form of sensory-motor polyneuropathy is linked to chromosome 22q13.31-q13.33.

Bohlega S, Alazami AM, Cupler E, Al-Hindi H, Ibrahim E, Alkuraya FS. Bohlega S, et al. Clin Genet. 2011 Feb;79(2):193-5. doi: 10.1111/j.1399-0004.2010.01524.x. Clin Genet. 2011. PMID: 21210780 No abstract available.

8

Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.

Bohlega SA, Shinwari JM, Al Sharif LJ, Khalil DS, Alkhairallah TS, Al Tassan NA. Bohlega SA, et al. BMC Med Genet. 2011 Feb 16;12:27. doi: 10.1186/1471-2350-12-27. BMC Med Genet. 2011. PMID: 21324166 Free PMC article.

9

A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia.

Al Tassan N, Khalil D, Shinwari J, Al Sharif L, Bavi P, Abduljaleel Z, Abu Dhaim N, Magrashi A, Bobis S, Ahmed H, Alahmed S, Bohlega S. Al Tassan N, et al. Among authors: bohlega s. Hum Mutat. 2012 Feb;33(2):351-4. doi: 10.1002/humu.21650. Epub 2011 Dec 8. Hum Mutat. 2012. PMID: 22065524

10

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum among Saudis.

Wakil SM, Murad HN, Baz BM, Hagos ST, Al-Amr RA, Al-Yamani SA, Al-Wadaee SM, Meyer BF, Bohlega SA. Wakil SM, et al. Neurosciences (Riyadh). 2012 Jan;17(1):48-52. Neurosciences (Riyadh). 2012. PMID: 22246010

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