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Items: 1 to 50 of 130

1.

Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia.

Wakil SM, Alhissi S, Al Dossari H, Alqahtani A, Shibin S, Melaiki BT, Finsterer J, Al-Hashem A, Bohlega S, Alazami AM.

BMC Med Genet. 2019 Jul 4;20(1):119. doi: 10.1186/s12881-019-0851-6.

2.

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Monies D, Abouelhoda M, Assoum M, Moghrabi N, Rafiullah R, Almontashiri N, Alowain M, Alzaidan H, Alsayed M, Subhani S, Cupler E, Faden M, Alhashem A, Qari A, Chedrawi A, Aldhalaan H, Kurdi W, Khan S, Rahbeeni Z, Alotaibi M, Goljan E, Elbardisy H, ElKalioby M, Shah Z, Alruwaili H, Jaafar A, Albar R, Akilan A, Tayeb H, Tahir A, Fawzy M, Nasr M, Makki S, Alfaifi A, Akleh H, Yamani S, Bubshait D, Mahnashi M, Basha T, Alsagheir A, Abu Khaled M, Alsaleem K, Almugbel M, Badawi M, Bashiri F, Bohlega S, Sulaiman R, Tous E, Ahmed S, Algoufi T, Al-Mousa H, Alaki E, Alhumaidi S, Althagafi M, Alghamdi H, Alghamdi M, Sahly A, Nahrir S, Al-Ahmari A, Alkuraya H, Almehaidib A, Abanemai M, Alsohaibaini F, Alsaud B, Arnaout R, Abdel-Salam GMH, Aldhekri H, AlKhater S, Alqadi K, Alsabban E, Alshareef T, Awartani K, Banjar H, Alsahan N, Abosoudah I, Alashwal A, Aldekhail W, Alhajjar S, Al-Mayouf S, Alsemari A, Alshuaibi W, Altala S, Altalhi A, Baz S, Hamad M, Abalkhail T, Alenazi B, Alkaff A, Almohareb F, Al Mutairi F, Alsaleh M, Alsonbul A, Alzelaye S, Bahzad S, Manee AB, Jarrad O, Meriki N, Albeirouti B, Alqasmi A, AlBalwi M, Makhseed N, Hassan S, Salih I, Salih MA, Shaheen M, Sermin S, Shahrukh S, Hashmi S, Shawli A, Tajuddin A, Tamim A, Alnahari A, Ghemlas I, Hussein M, Wali S, Murad H, Meyer BF, Alkuraya FS.

Am J Hum Genet. 2019 Jun 6;104(6):1182-1201. doi: 10.1016/j.ajhg.2019.04.011. Epub 2019 May 23.

PMID:
31130284
3.

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.

Parkinsonism Relat Disord. 2019 Feb 28. pii: S1353-8020(19)30084-7. doi: 10.1016/j.parkreldis.2019.02.039. [Epub ahead of print]

PMID:
30975617
4.

LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation.

Bohlega SA, Alfawaz S, Abou-Al-Shaar H, Al-Hindi HN, Murad HN, Bohlega MS, Meyer BF, Monies D.

Acta Myol. 2018 Sep 1;37(3):221-226. eCollection 2018 Sep.

5.

Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson's Disease.

Yemni EA, Monies D, Alkhairallah T, Bohlega S, Abouelhoda M, Magrashi A, Mustafa A, AlAbdulaziz B, Alhamed M, Baz B, Goljan E, Albar R, Jabaan A, Faquih T, Subhani S, Ali W, Shinwari J, Al-Mubarak B, Al-Tassan N.

Sci Rep. 2019 Mar 4;9(1):3344. doi: 10.1038/s41598-019-40102-x.

6.

Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene.

Wakil SM, Monies D, Hagos S, Al-Ajlan F, Finsterer J, Al Qahtani A, Ramzan K, Al Humaidy R, Al-Muhaizea MA, Meyer B, Bohlega SA.

Case Rep Genet. 2018 Dec 12;2018:9468049. doi: 10.1155/2018/9468049. eCollection 2018.

7.

Brain MR Imaging Findings in Woodhouse-Sakati Syndrome.

Abusrair AH, Bohlega S, Al-Semari A, Al-Ajlan FS, Al-Ahmadi K, Mohamed B, AlDakheel A.

AJNR Am J Neuroradiol. 2018 Dec;39(12):2256-2262. doi: 10.3174/ajnr.A5879. Epub 2018 Nov 8.

PMID:
30409855
8.

Defining spasticity: a new approach considering current movement disorders terminology and botulinum toxin therapy.

Dressler D, Bhidayasiri R, Bohlega S, Chana P, Chien HF, Chung TM, Colosimo C, Ebke M, Fedoroff K, Frank B, Kaji R, Kanovsky P, Koçer S, Micheli F, Orlova O, Paus S, Pirtosek Z, Relja M, Rosales RL, Sagástegui-Rodríguez JA, Schoenle PW, Shahidi GA, Timerbaeva S, Walter U, Saberi FA.

J Neurol. 2018 Apr;265(4):856-862. doi: 10.1007/s00415-018-8759-1. Epub 2018 Feb 8.

PMID:
29423615
9.

Identification of a novel genetic locus underlying tremor and dystonia.

Monies D, Abou Al-Shaar H, Goljan EA, Al-Younes B, Al-Breacan MMA, Al-Saif MM, Wakil SM, Meyer BF, Khabar KSA, Bohlega S.

Hum Genomics. 2017 Nov 6;11(1):25. doi: 10.1186/s40246-017-0123-5.

10.

Riboflavin Has Neuroprotective Potential: Focus on Parkinson's Disease and Migraine.

Marashly ET, Bohlega SA.

Front Neurol. 2017 Jul 20;8:333. doi: 10.3389/fneur.2017.00333. eCollection 2017. Review.

11.

The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins.

Dreser A, Vollrath JT, Sechi A, Johann S, Roos A, Yamoah A, Katona I, Bohlega S, Wiemuth D, Tian Y, Schmidt A, Vervoorts J, Dohmen M, Beyer C, Anink J, Aronica E, Troost D, Weis J, Goswami A.

Cell Death Differ. 2017 Oct;24(10):1655-1671. doi: 10.1038/cdd.2017.88. Epub 2017 Jun 16.

12.

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Monies D, Abouelhoda M, AlSayed M, Alhassnan Z, Alotaibi M, Kayyali H, Al-Owain M, Shah A, Rahbeeni Z, Al-Muhaizea MA, Alzaidan HI, Cupler E, Bohlega S, Faqeih E, Faden M, Alyounes B, Jaroudi D, Goljan E, Elbardisy H, Akilan A, Albar R, Aldhalaan H, Gulab S, Chedrawi A, Al Saud BK, Kurdi W, Makhseed N, Alqasim T, El Khashab HY, Al-Mousa H, Alhashem A, Kanaan I, Algoufi T, Alsaleem K, Basha TA, Al-Murshedi F, Khan S, Al-Kindy A, Alnemer M, Al-Hajjar S, Alyamani S, Aldhekri H, Al-Mehaidib A, Arnaout R, Dabbagh O, Shagrani M, Broering D, Tulbah M, Alqassmi A, Almugbel M, AlQuaiz M, Alsaman A, Al-Thihli K, Sulaiman RA, Al-Dekhail W, Alsaegh A, Bashiri FA, Qari A, Alhomadi S, Alkuraya H, Alsebayel M, Hamad MH, Szonyi L, Abaalkhail F, Al-Mayouf SM, Almojalli H, Alqadi KS, Elsiesy H, Shuaib TM, Seidahmed MZ, Abosoudah I, Akleh H, AlGhonaium A, Alkharfy TM, Al Mutairi F, Eyaid W, Alshanbary A, Sheikh FR, Alsohaibani FI, Alsonbul A, Al Tala S, Balkhy S, Bassiouni R, Alenizi AS, Hussein MH, Hassan S, Khalil M, Tabarki B, Alshahwan S, Oshi A, Sabr Y, Alsaadoun S, Salih MA, Mohamed S, Sultana H, Tamim A, El-Haj M, Alshahrani S, Bubshait DK, Alfadhel M, Faquih T, El-Kalioby M, Subhani S, Shah Z, Moghrabi N, Meyer BF, Alkuraya FS.

Hum Genet. 2017 Aug;136(8):921-939. doi: 10.1007/s00439-017-1821-8. Epub 2017 Jun 9.

13.

Pregnancy and the Use of Disease-Modifying Therapies in Patients with Multiple Sclerosis: Benefits versus Risks.

Alroughani R, Altintas A, Al Jumah M, Sahraian M, Alsharoqi I, AlTahan A, Daif A, Dahdaleh M, Deleu D, Fernandez O, Grigoriadis N, Inshasi J, Karabudak R, Taha K, Totolyan N, Yamout BI, Zakaria M, Bohlega S.

Mult Scler Int. 2016;2016:1034912. doi: 10.1155/2016/1034912. Epub 2016 Dec 18. Review.

14.

Intervening to reduce the risk of future disability from multiple sclerosis: are we there yet?

Dahdaleh M, Alroughani R, Aljumah M, AlTahan A, Alsharoqi I, Bohlega SA, Daif A, Deleu D, Inshasi J, Karabudak R, Sahraian MA, Taha K, Yammout BI, Zakaria M.

Int J Neurosci. 2017 Oct;127(10):944-951. doi: 10.1080/00207454.2016.1277424. Epub 2017 Jan 12. Review.

PMID:
28029270
15.

Ultrasound-guided botulinum toxin A injection in the treatment of belly dancer's dyskinesia.

Alshubaili A, Abou-Al-Shaar H, Santhamoorthy P, Attia H, Bohlega S.

BMC Neurol. 2016 Nov 17;16(1):226.

16.

Botulinum toxin therapy for treatment of spasticity in multiple sclerosis: review and recommendations of the IAB-Interdisciplinary Working Group for Movement Disorders task force.

Dressler D, Bhidayasiri R, Bohlega S, Chahidi A, Chung TM, Ebke M, Jacinto LJ, Kaji R, Koçer S, Kanovsky P, Micheli F, Orlova O, Paus S, Pirtosek Z, Relja M, Rosales RL, Sagástegui-Rodríguez JA, Schoenle PW, Shahidi GA, Timerbaeva S, Walter U, Saberi FA.

J Neurol. 2017 Jan;264(1):112-120. doi: 10.1007/s00415-016-8304-z. Epub 2016 Oct 27. Review.

PMID:
27787630
17.

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.

Hum Genomics. 2016 Sep 27;10(1):32.

18.

Woodhouse-Sakati Syndrome.

Bohlega SA, Alkuraya FS.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2016 Aug 4.

19.

Ataxia and Hypogonadotropic Hypogonadism with Intrafamilial Variability Caused by RNF216 Mutation.

Alqwaifly M, Bohlega S.

Neurol Int. 2016 Jun 15;8(2):6444. doi: 10.4081/ni.2016.6444. eCollection 2016 Jun 15.

20.

Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family.

Abou Al-Shaar H, Qadi N, Al-Hamed MH, Meyer BF, Bohlega S.

J Neurol Sci. 2016 Aug 15;367:239-43. doi: 10.1016/j.jns.2016.05.061. Epub 2016 Jun 1.

PMID:
27423596
21.

Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families.

Bohlega SA, Al-Mubarak BR, Alyemni EA, Abouelhoda M, Monies D, Mustafa AE, Khalil DS, Al Haibi S, Abou Al-Shaar H, Faquih T, El-Kalioby M, Tahir AI, Al Tassan NA.

BMC Res Notes. 2016 Jun 7;9:295. doi: 10.1186/s13104-016-2102-7.

22.

Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation.

Hdiji O, Turki E, Bouzidi N, Bouchhima I, Damak M, Bohlega S, Mhiri C.

J Mov Disord. 2016 May;9(2):120-3. doi: 10.14802/jmd.16003. Epub 2016 May 25.

23.

Levodopa-Carbidopa Intestinal Gel Infusion Therapy in Advanced Parkinson's Disease: Single Middle Eastern Center Experience.

Bohlega S, Abou Al-Shaar H, Alkhairallah T, Al-Ajlan F, Hasan N, Alkahtani K.

Eur Neurol. 2015;74(5-6):227-36. doi: 10.1159/000442151. Epub 2015 Dec 1.

PMID:
26618531
24.

Erratum to: Strategies for treatment of dystonia.

Dressler D, Altenmueller E, Bhidayasiri R, Bohlega S, Chana P, Chung TM, Frucht S, Garcia-Ruiz PJ, Kaelin A, Kaji R, Kanovsky P, Laskawi R, Micheli F, Orlova O, Relja M, Rosales R, Slawek J, Timerbaeva S, Warner TT, Saberi FA.

J Neural Transm (Vienna). 2016 Mar;123(3):259. doi: 10.1007/s00702-015-1471-8. No abstract available.

PMID:
26546035
25.

Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group.

MENA Pompe Working Group, Al Jasmi F, Al Jumah M, Alqarni F, Al-Sanna'a N, Al-Sharif F, Bohlega S, Cupler EJ, Fathalla W, Hamdan MA, Makhseed N, Nafissi S, Nilipour Y, Selim L, Shembesh N, Sunbul R, Tonekaboni SH.

BMC Neurol. 2015 Oct 15;15:205. doi: 10.1186/s12883-015-0412-3.

26.

Strategies for treatment of dystonia.

Dressler D, Altenmueller E, Bhidayasiri R, Bohlega S, Chana P, Chung TM, Frucht S, Garcia-Ruiz PJ, Kaelin A, Kaji R, Kanovsky P, Laskawi R, Micheli F, Orlova O, Relja M, Rosales R, Slawek J, Timerbaeva S, Warner TT, Saberi FA.

J Neural Transm (Vienna). 2016 Mar;123(3):251-8. doi: 10.1007/s00702-015-1453-x. Epub 2015 Sep 14. Erratum in: J Neural Transm (Vienna). 2016 Mar;123(3):259.

PMID:
26370676
27.

Parkinson's Disease in Saudi Patients: A Genetic Study.

Al-Mubarak BR, Bohlega SA, Alkhairallah TS, Magrashi AI, AlTurki MI, Khalil DS, AlAbdulaziz BS, Abou Al-Shaar H, Mustafa AE, Alyemni EA, Alsaffar BA, Tahir AI, Al Tassan NA.

PLoS One. 2015 Aug 14;10(8):e0135950. doi: 10.1371/journal.pone.0135950. eCollection 2015.

28.

Functional clinical outcomes in multiple sclerosis: Current status and future prospects.

Karabudak R, Dahdaleh M, Aljumah M, Alroughani R, Alsharoqi IA, AlTahan AM, Bohlega SA, Daif A, Deleu D, Amous A, Inshasi JS, Rieckmann P, Sahraian MA, Yamout BI.

Mult Scler Relat Disord. 2015 May;4(3):192-201. doi: 10.1016/j.msard.2015.03.004. Epub 2015 Mar 23. Review.

PMID:
26008936
29.

Consensus recommendations for the diagnosis and treatment of multiple sclerosis: the Middle East North Africa Committee for Treatment and Research In Multiple Sclerosis (MENACTRIMS).

Yamout B, Alroughani R, Al-Jumah M, Goueider R, Dahdaleh M, Inshasi J, Hashem S, Alsharoqi I, Sahraian M, Khoury S, Alkawi Z, Koussa S, Zakaria M, Al Khaburi J, Alsaadi T, Bohlega S.

Curr Med Res Opin. 2015;31(7):1349-61. doi: 10.1185/03007995.2015.1047750. Epub 2015 May 29.

PMID:
25946578
30.

Clinical and genetic features of anoctaminopathy in Saudi Arabia.

Bohlega S, Monies DM, Abulaban AA, Murad HN, Alhindi HN, Meyer BF.

Neurosciences (Riyadh). 2015 Apr;20(2):173-7. doi: 10.17712/nsj.2015.2.20140547.

31.

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Alazami AM, Patel N, Shamseldin HE, Anazi S, Al-Dosari MS, Alzahrani F, Hijazi H, Alshammari M, Aldahmesh MA, Salih MA, Faqeih E, Alhashem A, Bashiri FA, Al-Owain M, Kentab AY, Sogaty S, Al Tala S, Temsah MH, Tulbah M, Aljelaify RF, Alshahwan SA, Seidahmed MZ, Alhadid AA, Aldhalaan H, AlQallaf F, Kurdi W, Alfadhel M, Babay Z, Alsogheer M, Kaya N, Al-Hassnan ZN, Abdel-Salam GM, Al-Sannaa N, Al Mutairi F, El Khashab HY, Bohlega S, Jia X, Nguyen HC, Hammami R, Adly N, Mohamed JY, Abdulwahab F, Ibrahim N, Naim EA, Al-Younes B, Meyer BF, Hashem M, Shaheen R, Xiong Y, Abouelhoda M, Aldeeri AA, Monies DM, Alkuraya FS.

Cell Rep. 2015 Jan 13;10(2):148-61. doi: 10.1016/j.celrep.2014.12.015. Epub 2014 Dec 31.

32.

Oromandibular dystonia in yemeni patients with khat chewing: a response to botulinum toxin treatment.

Shehata HS, El-Tamawy MS, Mohieldin N, Edrees M, Bohlega S.

Neurol Int. 2014 Jun 3;6(2):5385. doi: 10.4081/ni.2014.5385. eCollection 2014 Apr 22.

33.

SET binding factor 1 (SBF1) mutation causes Charcot-Marie-tooth disease type 4B3.

Alazami AM, Alzahrani F, Bohlega S, Alkuraya FS.

Neurology. 2014 May 6;82(18):1665-6. doi: 10.1212/WNL.0000000000000331. No abstract available.

PMID:
24799518
34.

Natalizumab treatment for multiple sclerosis: Middle East and North Africa regional recommendations for patient selection and monitoring.

Alroughani RA, Aref HM, Bohlega SA, Dahdaleh MP, Feki I, Al Jumah MA, Al-Kawi MZ, Koussa SF, Sahraian MA, Alsharoqi IA, Yamout BI.

BMC Neurol. 2014 Feb 12;14:27. doi: 10.1186/1471-2377-14-27. Review.

35.

Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome.

Monies DM, Al-Hindi HN, Al-Muhaizea MA, Jaroudi DJ, Al-Younes B, Naim EA, Wakil SM, Meyer BF, Bohlega S.

Neuromuscul Disord. 2014 Apr;24(4):353-9. doi: 10.1016/j.nmd.2013.12.010. Epub 2014 Jan 4.

PMID:
24461433
36.

Future of management of multiple sclerosis in the middle East: a consensus view from specialists in ten countries.

Aljumah M, Alroughani R, Alsharoqi I, Bohlega SA, Dahdaleh M, Deleu D, Esmat K, Khalifa A, Sahraian MA, Szólics M, Altahan A, Yamout BI, Rieckmann P, Daif A.

Mult Scler Int. 2013;2013:952321. doi: 10.1155/2013/952321. Epub 2013 Dec 17.

37.

Diagnosis and management of Neuro-Behçet's disease: international consensus recommendations.

Kalra S, Silman A, Akman-Demir G, Bohlega S, Borhani-Haghighi A, Constantinescu CS, Houman H, Mahr A, Salvarani C, Sfikakis PP, Siva A, Al-Araji A.

J Neurol. 2014 Sep;261(9):1662-76. doi: 10.1007/s00415-013-7209-3. Epub 2013 Dec 24. Review.

38.

Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T.

Wakil SM, Ramzan K, Abuthuraya R, Hagos S, Al-Dossari H, Al-Omar R, Murad H, Chedrawi A, Al-Hassnan ZN, Finsterer J, Bohlega S.

Gene. 2014 Feb 15;536(1):217-20. doi: 10.1016/j.gene.2013.11.043. Epub 2013 Dec 4.

PMID:
24315819
39.

Novel B4GALNT1 mutations in a complicated form of hereditary spastic paraplegia.

Wakil SM, Monies DM, Ramzan K, Hagos S, Bastaki L, Meyer BF, Bohlega S.

Clin Genet. 2014 Nov;86(5):500-1. doi: 10.1111/cge.12312. Epub 2013 Nov 27. No abstract available.

PMID:
24283893
40.

Characteristics of multiple sclerosis in the Middle East with special reference to the applicability of international guidelines to the region.

Al Tahan AM, Alsharoqi I, Bohlega SA, Dahdaleh M, Daif A, Deleu D, Esmat K, Giampaolo D, Freedman MS, Gwilt M, Hosny H, Inshasi JS, Aljumah M, Khalifa A, Pakdaman H, Szólics M, Yamout BI, Sahraian MA, Zakaria MF.

Int J Neurosci. 2014 Sep;124(9):635-41. doi: 10.3109/00207454.2013.865620. Epub 2013 Dec 18. Review.

PMID:
24228830
41.

Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues.

Bohlega S, Al-Ajlan H, Al-Saif A.

Eur J Hum Genet. 2014 May;22(5):640-3. doi: 10.1038/ejhg.2013.210. Epub 2013 Oct 2.

42.

Drug-induced Parkinson`s disease. A clinical review.

Bohlega SA, Al-Foghom NB.

Neurosciences (Riyadh). 2013 Jul;18(3):215-21. Review.

PMID:
23887211
43.

Consensus guidelines for the diagnosis and treatment of multiple sclerosis.

Yamout B, Alroughani R, Al-Jumah M, Khoury S, Abouzeid N, Dahdaleh M, Alsharoqi I, Inshasi J, Hashem S, Zakaria M, ElKallab K, Alsaadi T, Tawfeek T, Bohlega S.

Curr Med Res Opin. 2013 Jun;29(6):611-21. doi: 10.1185/03007995.2013.787979. Epub 2013 Apr 22.

PMID:
23514115
44.

Multiple sclerosis in the Arabian Gulf countries: a consensus statement.

Bohlega S, Inshasi J, Al Tahan AR, Madani AB, Qahtani H, Rieckmann P.

J Neurol. 2013 Dec;260(12):2959-63. doi: 10.1007/s00415-013-6876-4. Epub 2013 Mar 17. Review.

45.

Loss of ERLIN2 function leads to juvenile primary lateral sclerosis.

Al-Saif A, Bohlega S, Al-Mohanna F.

Ann Neurol. 2012 Oct;72(4):510-6. doi: 10.1002/ana.23641.

PMID:
23109145
46.

A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family.

Wakil SM, Bohlega S, Hagos S, Baz B, Al Dossari H, Ramzan K, Al-Hassnan ZN.

Eur J Med Genet. 2013 Jan;56(1):43-5. doi: 10.1016/j.ejmg.2012.10.003. Epub 2012 Oct 18.

PMID:
23085305
47.

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.

Neurosciences (Riyadh). 2012 Jan;17(1):48-52.

PMID:
22246010
48.

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.

Hum Mutat. 2012 Feb;33(2):351-4. doi: 10.1002/humu.21650. Epub 2011 Dec 8.

PMID:
22065524
49.

Novel mutation of the notch3 gene in arabic family with CADASIL.

Bohlega S.

Neurol Int. 2011 Jul 5;3(2):e6. doi: 10.4081/ni.2011.e6. Epub 2011 Jul 28.

50.

A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis.

Al-Saif A, Al-Mohanna F, Bohlega S.

Ann Neurol. 2011 Dec;70(6):913-9. doi: 10.1002/ana.22534. Epub 2011 Aug 12.

PMID:
21842496

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