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Items: 1 to 20 of 237

1.

Ophthalmic features of PLA2G6-related paediatric neurodegeneration with brain iron accumulation.

Khan AO, AlDrees A, Elmalik SA, Hassan HH, Michel M, Stevanin G, Azzedine H, Salih MA.

Br J Ophthalmol. 2014 Jul;98(7):889-93.

PMID:
24522175
2.

Ophthalmic features of Joubert syndrome.

Khan AO, Oystreck DT, Seidahmed MZ, AlDrees A, Elmalik SA, Alorainy IA, Salih MA.

Ophthalmology. 2008 Dec;115(12):2286-9. doi: 10.1016/j.ophtha.2008.08.005.

PMID:
19041481
3.

New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations.

Salih MA, Mundwiller E, Khan AO, AlDrees A, Elmalik SA, Hassan HH, Al-Owain M, Alkhalidi HM, Katona I, Kabiraj MM, Chrast R, Kentab AY, Alzaidan H, Rodenburg RJ, Bosley TM, Weis J, Koenig M, Stevanin G, Azzedine H.

PLoS One. 2013 Oct 9;8(10):e76831. doi: 10.1371/journal.pone.0076831. eCollection 2013. Erratum in: PLoS One. 2013;8(11). doi:10.1371/annotation/cb01a74a-3330-4412-8040-2a94842420ed.

4.

Ophthalmic features of ataxia telangiectasia-like disorder.

Khan AO, Oystreck DT, Koenig M, Salih MA.

J AAPOS. 2008 Apr;12(2):186-9. Epub 2007 Dec 21.

PMID:
18083591
5.

A newly recognized autosomal recessive syndrome affecting neurologic function and vision.

Salih MA, Tzschach A, Oystreck DT, Hassan HH, AlDrees A, Elmalik SA, El Khashab HY, Wienker TF, Abu-Amero KK, Bosley TM.

Am J Med Genet A. 2013 Jun;161A(6):1207-13. doi: 10.1002/ajmg.a.35850. Epub 2013 Apr 30.

PMID:
23633300
6.

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.

Tesson C, Nawara M, Salih MA, Rossignol R, Zaki MS, Al Balwi M, Schule R, Mignot C, Obre E, Bouhouche A, Santorelli FM, Durand CM, Oteyza AC, El-Hachimi KH, Al Drees A, Bouslam N, Lamari F, Elmalik SA, Kabiraj MM, Seidahmed MZ, Esteves T, Gaussen M, Monin ML, Gyapay G, Lechner D, Gonzalez M, Depienne C, Mochel F, Lavie J, Schols L, Lacombe D, Yahyaoui M, Al Abdulkareem I, Zuchner S, Yamashita A, Benomar A, Goizet C, Durr A, Gleeson JG, Darios F, Brice A, Stevanin G.

Am J Hum Genet. 2012 Dec 7;91(6):1051-64. doi: 10.1016/j.ajhg.2012.11.001. Epub 2012 Nov 21.

7.

The neurology of carbonic anhydrase type II deficiency syndrome.

Bosley TM, Salih MA, Alorainy IA, Islam MZ, Oystreck DT, Suliman OS, al Malki S, Suhaibani AH, Khiari H, Beckers S, van Wesenbeeck L, Perdu B, AlDrees A, Elmalik SA, Van Hul W, Abu-Amero KK.

Brain. 2011 Dec;134(Pt 12):3502-15. doi: 10.1093/brain/awr302. Epub 2011 Nov 26.

PMID:
22120147
8.

Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia.

Assoum M, Salih MA, Drouot N, H'Mida-Ben Brahim D, Lagier-Tourenne C, AlDrees A, Elmalik SA, Ahmed TS, Seidahmed MZ, Kabiraj MM, Koenig M.

Brain. 2010 Aug;133(Pt 8):2439-47. doi: 10.1093/brain/awq181.

PMID:
20826435
9.

Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder.

Fernet M, Gribaa M, Salih MA, Seidahmed MZ, Hall J, Koenig M.

Hum Mol Genet. 2005 Jan 15;14(2):307-18. Epub 2004 Dec 1.

PMID:
15574463
10.

The Salih ataxia mutation impairs Rubicon endosomal localization.

Assoum M, Salih MA, Drouot N, Hnia K, Martelli A, Koenig M.

Cerebellum. 2013 Dec;12(6):835-40. doi: 10.1007/s12311-013-0489-4.

PMID:
23728897
11.

Perinatal stroke in Saudi children. Clinical features and risk factors.

Salih MA, Abdel-Gader AG, Al-Jarallah AA, Kentab AY, Alorainy IA, Hassan HH, Al-Nasser MN.

Saudi Med J. 2006 Mar;27 Suppl 1:S35-40.

PMID:
16532129
12.

Molecular and neurological characterizations of three Saudi families with lipoid proteinosis.

Salih MA, Abu-Amero KK, Alrasheed S, Alorainy IA, Liu L, McGrath JA, Van Maldergem L, Al-Faky YH, AlSuhaibani AH, Oystreck DT, Bosley TM.

BMC Med Genet. 2011 Feb 24;12:31. doi: 10.1186/1471-2350-12-31.

13.

Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.

Alazami AM, Hijazi H, Al-Dosari MS, Shaheen R, Hashem A, Aldahmesh MA, Mohamed JY, Kentab A, Salih MA, Awaji A, Masoodi TA, Alkuraya FS.

J Med Genet. 2013 Jul;50(7):425-30. doi: 10.1136/jmedgenet-2012-101378. Epub 2013 Apr 25.

PMID:
23620220
14.

NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility.

Alazami AM, Alshammari MJ, Baig M, Salih MA, Hassan HH, Alkuraya FS.

Clin Genet. 2014 Apr;85(4):371-5. doi: 10.1111/cge.12160. Epub 2013 Apr 26.

PMID:
23574405
15.

Glutaric aciduria type 1 as a cause of dystonic cerebral palsy.

Mohamed S, Hamad MH, Hassan HH, Salih MA.

Saudi Med J. 2015 Nov;36(11):1354-7. doi: 10.15537/smj.2015.11.12132.

16.

Stroke from systemic vascular disorders in Saudi children. The devastating role of hypernatremic dehydration.

Salih MA, Zahraa JN, Al-Jarallah AA, Alorainy IA, Hassan HH.

Saudi Med J. 2006 Mar;27 Suppl 1:S97-102.

PMID:
16532137
17.

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.

Mihaylova V, Müller JS, Vilchez JJ, Salih MA, Kabiraj MM, D'Amico A, Bertini E, Wölfle J, Schreiner F, Kurlemann G, Rasic VM, Siskova D, Colomer J, Herczegfalvi A, Fabriciova K, Weschke B, Scola R, Hoellen F, Schara U, Abicht A, Lochmüller H.

Brain. 2008 Mar;131(Pt 3):747-59. doi: 10.1093/brain/awm325. Epub 2008 Jan 7.

PMID:
18180250
18.

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

Cossins J, Belaya K, Hicks D, Salih MA, Finlayson S, Carboni N, Liu WW, Maxwell S, Zoltowska K, Farsani GT, Laval S, Seidhamed MZ; WGS500 Consortium, Donnelly P, Bentley D, McGowan SJ, Müller J, Palace J, Lochmüller H, Beeson D.

Brain. 2013 Mar;136(Pt 3):944-56. doi: 10.1093/brain/awt010. Epub 2013 Feb 11.

19.

Stroke in Saudi children. Epidemiology, clinical features and risk factors.

Salih MA, Abdel-Gader AG, Al-Jarallah AA, Kentab AY, Alorainy IA, Hassan HH, Bahakim HM, Kurbaan KM, Zahraa JN, Al-Nasser MN, Nasir AA, Khoja WA, Kabiraj MM.

Saudi Med J. 2006 Mar;27 Suppl 1:S12-20.

PMID:
16532126
20.

Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.

Mihaylova V, Salih MA, Mukhtar MM, Abuzeid HA, El-Sadig SM, von der Hagen M, Huebner A, Nürnberg G, Abicht A, Müller JS, Lochmüller H, Guergueltcheva V.

Neurology. 2009 Dec 1;73(22):1926-8. doi: 10.1212/WNL.0b013e3181c3fce9. No abstract available.

PMID:
19949040

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