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

Al-Saif, Amr ; Al-Mohanna, Futwan ; Bohlega, Saeed

Annals of neurology, 2011-12, Vol.70 (6), p.913-919 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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2
A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family
A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family
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A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family

Wakil, Salma M ; Bohlega, Saeed ; Hagos, Samya ; Baz, Batoul ; Al Dossari, Haya ; Ramzan, Khushnooda ; Al-Hassnan, Zuhair N

European journal of medical genetics, 2013-01, Vol.56 (1), p.43-45 [Periódico revisado por pares]

Netherlands: Elsevier Masson SAS

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3
CADASIL in Arabs: clinical and genetic findings
CADASIL in Arabs: clinical and genetic findings
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CADASIL in Arabs: clinical and genetic findings

Bohlega, Saeed ; Al Shubili, Asmahan ; Edris, Abdulrahman ; Alreshaid, Abdulrahman ; Alkhairallah, Thamer ; AlSous, M Walid ; Farah, Samir ; Abu-Amero, Khaled K

BMC medical genetics, 2007-11, Vol.8 (1), p.67-67, Article 67 [Periódico revisado por pares]

England: BioMed Central Ltd

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4
Clinical and genetic features of anoctaminopathy in Saudi Arabia
Clinical and genetic features of anoctaminopathy in Saudi Arabia
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Clinical and genetic features of anoctaminopathy in Saudi Arabia

Bohlega, Saeed ; Monies, Dorothy M ; Abulaban, Ahmad A ; Murad, Hatem N ; Alhindi, Hindi N ; Meyer, Brian F

Neurosciences (Riyadh, Saudi Arabia), 2015-04, Vol.20 (2), p.173-177 [Periódico revisado por pares]

Saudi Arabia: Riyadh : Armed Forces Hospital

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5
Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia
Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia
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Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia

Bohlega, Saeed A ; Shinwari, Jameela M ; Al Sharif, Latifa J ; Khalil, Dania S ; Alkhairallah, Thamer S ; Al Tassan, Nada A

BMC medical genetics, 2011-02, Vol.12 (1), p.27-27, Article 27 [Periódico revisado por pares]

England: BioMed Central Ltd

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6
Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome
Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome
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Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome

Monies, Dorota M ; Al-Hindi, Hindi N ; Al-Muhaizea, Mohamed A ; Jaroudi, Dyala J ; Al-Younes, Banan ; Naim, Ewa A ; Wakil, Salma M ; Meyer, Brian F ; Bohlega, Saeed

Neuromuscular disorders : NMD, 2014-04, Vol.24 (4), p.353-359 [Periódico revisado por pares]

England: Elsevier B.V

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7
Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families
Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families
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Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families

Bohlega, Saeed A ; Al-Mubarak, Bashayer R ; Alyemni, Eman A ; Abouelhoda, Mohamed ; Monies, Dorota ; Mustafa, Abeer E ; Khalil, Dania S ; Al Haibi, Sara ; Abou Al-Shaar, Hussam ; Faquih, Tariq ; El-Kalioby, Mohamed ; Tahir, Asma I ; Al Tassan, Nada A

BMC research notes, 2016-06, Vol.9 (1), p.295-295, Article 295 [Periódico revisado por pares]

England: BioMed Central Ltd

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8
Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T
Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T
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Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T

Wakil, Salma M. ; Ramzan, Khushnooda ; Abuthuraya, Rula ; Hagos, Samya ; Al-Dossari, Haya ; Al-Omar, Rana ; Murad, Hatem ; Chedrawi, Aziza ; Al-Hassnan, Zuhair N. ; Finsterer, Josef ; Bohlega, Saeed

Gene, 2014-02, Vol.536 (1), p.217-220 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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9
Loss of ERLIN2 function leads to juvenile primary lateral sclerosis
Loss of ERLIN2 function leads to juvenile primary lateral sclerosis
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Loss of ERLIN2 function leads to juvenile primary lateral sclerosis

Al-Saif, Amr ; Bohlega, Saeed ; Al-Mohanna, Futwan

Annals of neurology, 2012-10, Vol.72 (4), p.510-516 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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10
Mitochondrial T9957C Mutation in Association with NAION and Seizures but not MELAS
Mitochondrial T9957C Mutation in Association with NAION and Seizures but not MELAS
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Mitochondrial T9957C Mutation in Association with NAION and Seizures but not MELAS

Abu-Amero, Khaled K. ; Bosley, Thomas M. ; Bohlega, Saeed ; Hansen, Erik

Ophthalmic genetics, 2005-03, Vol.26 (1), p.31-36 [Periódico revisado por pares]

England: Informa UK Ltd

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