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A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis.
Al-Saif A, Al-Mohanna F, Bohlega S. Al-Saif A, et al. Ann Neurol. 2011 Dec;70(6):913-9. doi: 10.1002/ana.22534. Epub 2011 Aug 12. Ann Neurol. 2011. PMID: 21842496
Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders.
Bohlega SA, Abou-Al-Shaar H, AlDakheel A, Alajlan H, Bohlega BS, Meyer BF, Monies D, Cupler EJ, Al-Saif AM. Bohlega SA, et al. Among authors: al saif am. Parkinsonism Relat Disord. 2019 Jul;64:145-149. doi: 10.1016/j.parkreldis.2019.02.039. Epub 2019 Feb 28. Parkinsonism Relat Disord. 2019. PMID: 30975617
Propionic acidemia associated with visual hallucinations.
Shuaib T, Al-Hashmi N, Ghaziuddin M, Megdad E, Abebe D, Al-Saif A, Doubi A, Aldhalaan H, Abouzied ME, Al-Owain M. Shuaib T, et al. J Child Neurol. 2012 Jun;27(6):799-803. doi: 10.1177/0883073811426929. Epub 2011 Dec 7. J Child Neurol. 2012. PMID: 22156789
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. 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.
A novel KERA mutation associated with autosomal recessive cornea plana.
Khan A, Al-Saif A, Kambouris M. Khan A, et al. Ophthalmic Genet. 2004 Jun;25(2):147-52. doi: 10.1080/13816810490514397. Ophthalmic Genet. 2004. PMID: 15370545
A novel missense Norrie disease mutation associated with a severe ocular phenotype.
Khan AO, Shamsi FA, Al-Saif A, Kambouris M. Khan AO, et al. J Pediatr Ophthalmol Strabismus. 2004 Nov-Dec;41(6):361-3. J Pediatr Ophthalmol Strabismus. 2004. PMID: 15609522
Loss of ERLIN2 function leads to juvenile primary lateral sclerosis.
Al-Saif A, Bohlega S, Al-Mohanna F. Al-Saif A, et al. Ann Neurol. 2012 Oct;72(4):510-6. doi: 10.1002/ana.23641. Ann Neurol. 2012. PMID: 23109145
Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.
Riazuddin SA, Zaghloul NA, Al-Saif A, Davey L, Diplas BH, Meadows DN, Eghrari AO, Minear MA, Li YJ, Klintworth GK, Afshari N, Gregory SG, Gottsch JD, Katsanis N. Riazuddin SA, et al. Am J Hum Genet. 2010 Jan;86(1):45-53. doi: 10.1016/j.ajhg.2009.12.001. Epub 2009 Dec 31. Am J Hum Genet. 2010. PMID: 20036349 Free PMC article.
Gene therapy of hematological disorders: current challenges.
Al-Saif AM. Al-Saif AM. Gene Ther. 2019 Aug;26(7-8):296-307. doi: 10.1038/s41434-019-0093-4. Epub 2019 Jul 12. Gene Ther. 2019. PMID: 31300728 Review.
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