Mubaidin A - Search Results

1

Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation.

Ververis A, Dajani R, Koutsou P, Aloqaily A, Nelson-Williams C, Loring E, Arafat A, Mubaidin AF, Horany K, Bader MB, Al-Baho Y, Ali B, Muhtaseb A, DeSpenza T Jr, Al-Qudah AA, Middleton LT, Zamba-Papanicolaou E, Lifton R, Christodoulou K. Ververis A, et al. Among authors: mubaidin af. J Med Genet. 2020 Mar;57(3):178-186. doi: 10.1136/jmedgenet-2019-106108. Epub 2019 Sep 11. J Med Genet. 2020. PMID: 31511340 Free PMC article.

2

Jordan.

Mubaidin AF. Mubaidin AF. Pract Neurol. 2010 Apr;10(2):112-3. doi: 10.1136/jnnp.2009.203927. Pract Neurol. 2010. PMID: 20308241 No abstract available.

3

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.

Ramirez A, Heimbach A, Gründemann J, Stiller B, Hampshire D, Cid LP, Goebel I, Mubaidin AF, Wriekat AL, Roeper J, Al-Din A, Hillmer AM, Karsak M, Liss B, Woods CG, Behrens MI, Kubisch C. Ramirez A, et al. Among authors: mubaidin af. Nat Genet. 2006 Oct;38(10):1184-91. doi: 10.1038/ng1884. Epub 2006 Sep 10. Nat Genet. 2006. PMID: 16964263

4

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.

Morgan NV, Westaway SK, Morton JE, Gregory A, Gissen P, Sonek S, Cangul H, Coryell J, Canham N, Nardocci N, Zorzi G, Pasha S, Rodriguez D, Desguerre I, Mubaidin A, Bertini E, Trembath RC, Simonati A, Schanen C, Johnson CA, Levinson B, Woods CG, Wilmot B, Kramer P, Gitschier J, Maher ER, Hayflick SJ. Morgan NV, et al. Among authors: mubaidin a. Nat Genet. 2006 Jul;38(7):752-4. doi: 10.1038/ng1826. Epub 2006 Jun 18. Nat Genet. 2006. PMID: 16783378 Free PMC article.

5

Protein-truncating mutations in ASPM cause variable reduction in brain size.

Bond J, Scott S, Hampshire DJ, Springell K, Corry P, Abramowicz MJ, Mochida GH, Hennekam RC, Maher ER, Fryns JP, Alswaid A, Jafri H, Rashid Y, Mubaidin A, Walsh CA, Roberts E, Woods CG. Bond J, et al. Among authors: mubaidin a. Am J Hum Genet. 2003 Nov;73(5):1170-7. doi: 10.1086/379085. Epub 2003 Oct 21. Am J Hum Genet. 2003. PMID: 14574646 Free PMC article.

6

Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum.

Mubaidin A, Roberts E, Hampshire D, Dehyyat M, Shurbaji A, Mubaidien M, Jamil A, Al-Din A, Kurdi A, Woods CG. Mubaidin A, et al. J Med Genet. 2003 Jul;40(7):543-6. doi: 10.1136/jmg.40.7.543. J Med Genet. 2003. PMID: 12843330 Free PMC article. No abstract available.

7

Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils: a novel disorder or a new variant of Boucher-Neuhauser syndrome?

Jbour AK, Mubaidin AF, Till M, El-Shanti H, Hadidi A, Ajlouni KM. Jbour AK, et al. Among authors: mubaidin af. J Med Genet. 2003 Jan;40(1):e2. doi: 10.1136/jmg.40.1.e2. J Med Genet. 2003. PMID: 12525550 Free PMC article. No abstract available.

8

Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: "D-CHRAMPS syndrome".

Hiyasat D, Dehyyat MA, Ajlouni S, Mubaidin AF, Till M, Hadidi A, El-Shanti H, Ajlouni KM. Hiyasat D, et al. Among authors: mubaidin af. Eur J Pediatr. 2002 Mar;161(3):170-2. doi: 10.1007/s00431-001-0882-8. Eur J Pediatr. 2002. PMID: 11998919

9

Multiple sclerosis simulating brain tumor.

Shurbaji AA, Dehayyat MA, Abu-Ruman IA, Mubaidin AF. Shurbaji AA, et al. Among authors: mubaidin af. Neurosciences (Riyadh). 2002 Apr;7(2):134-7. Neurosciences (Riyadh). 2002. PMID: 23978927

10

Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36.

Hampshire DJ, Roberts E, Crow Y, Bond J, Mubaidin A, Wriekat AL, Al-Din A, Woods CG. Hampshire DJ, et al. Among authors: mubaidin a. J Med Genet. 2001 Oct;38(10):680-2. doi: 10.1136/jmg.38.10.680. J Med Genet. 2001. PMID: 11584046 Free PMC article.

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