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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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2
A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies
A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies
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A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

Monies, Dorota ; Alhindi, Hindi N ; Almuhaizea, Mohamed A ; Abouelhoda, Mohamed ; Alazami, Anas M ; Goljan, Ewa ; Alyounes, Banan ; Jaroudi, Dyala ; AlIssa, Abdulelah ; Alabdulrahman, Khalid ; Subhani, Shazia ; El-Kalioby, Mohamed ; Faquih, Tariq ; Wakil, Salma M ; Altassan, Nada A ; Meyer, Brian F ; Bohlega, Saeed

Human genomics, 2016-09, Vol.10 (1), p.32-32, Article 32 [Periódico revisado por pares]

England: BioMed Central

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3
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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4
Absence of mtDNA mutations in leukocytes of CADASIL patients
Absence of mtDNA mutations in leukocytes of CADASIL patients
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Absence of mtDNA mutations in leukocytes of CADASIL patients

Abu-Amero, Khaled K ; Hellani, Ali ; Bohlega, Saeed

BMC research notes, 2008-05, Vol.1 (1), p.16-16 [Periódico revisado por pares]

England: BioMed Central Ltd

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5
Identification of a novel genetic locus underlying tremor and dystonia
Identification of a novel genetic locus underlying tremor and dystonia
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Identification of a novel genetic locus underlying tremor and dystonia

Monies, Dorota ; Abou Al-Shaar, Hussam ; Goljan, Ewa A ; Al-Younes, Banan ; Al-Breacan, Muna Monther Abdullah ; Al-Saif, Maher Mohammed ; Wakil, Salma M ; Meyer, Brian F ; Khabar, Khalid S A ; Bohlega, Saeed

Human genomics, 2017-11, Vol.11 (1), p.25-25, Article 25 [Periódico revisado por pares]

England: BioMed Central

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6
A patient with typical clinical features of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) but without an obvious genetic cause: a case report
A patient with typical clinical features of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) but without an obvious genetic cause: a case report
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A patient with typical clinical features of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) but without an obvious genetic cause: a case report

Abu-Amero, Khaled K ; Al-Dhalaan, Hesham ; Bohlega, Saeed ; Hellani, Ali ; Taylor, Robert W

Journal of medical case reports, 2009-10, Vol.3 (1), p.77-77, Article 77 [Periódico revisado por pares]

England: BioMed Central Ltd

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7
Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes
Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes
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Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes

Al-Hamed, Mohamed H. ; Kurdi, Wesam ; Khan, Rubina ; Tulbah, Maha ; AlNemer, Maha ; AlSahan, Nada ; AlMugbel, Maisoon ; Rafiullah, Rafiullah ; Assoum, Mirna ; Monies, Dorota ; Shah, Zeeshan ; Rahbeeni, Zuhair ; Derar, Nada ; Hakami, Fahad ; Almutairi, Gawaher ; AlOtaibi, Afaf ; Ali, Wafaa ; AlShammasi, Amal ; AlMubarak, Wardah ; AlDawoud, Samia ; AlAmri, Saja ; Saeed, Bashayer ; Bukhari, Hanifa ; Ali, Mohannad ; Akili, Rana ; Alquayt, Laila ; Hagos, Samia ; Elbardisy, Hadeel ; Akilan, Asma ; Almuhana, Nora ; AlKhalifah, Abrar ; Abouelhoda, Mohamed ; Ramzan, Khushnooda ; Sayer, John A. ; Imtiaz, Faiqa

Human genetics, 2022, Vol.141 (1), p.101-126 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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8
Diagnosis and management of hematological manifestations of gaucher disease: Insights from Saudi Arabia
Diagnosis and management of hematological manifestations of gaucher disease: Insights from Saudi Arabia
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Diagnosis and management of hematological manifestations of gaucher disease: Insights from Saudi Arabia

Tarek Owaidah ; Fahad Alabbas ; Iman Alhazmi ; Hussain Al Saeed ; Saud Balelah ; Ghaleb ElYamany ; Ohoud Kashari ; Mohamad Qari ; Mahasen Saleh ; Sherif Roushdy ; Marwan ElBagoury

Journal of Applied Hematology, 2021-07, Vol.12 (3), p.123-133 [Periódico revisado por pares]

Wolters Kluwer Medknow Publications

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9
Client processing is altered by novel myopathy-causing mutations in the HSP40 J domain
Client processing is altered by novel myopathy-causing mutations in the HSP40 J domain
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Client processing is altered by novel myopathy-causing mutations in the HSP40 J domain

Pullen, Melanie Y ; Weihl, Conrad C ; True, Heather L Brodsky, Jeffrey L.

PloS one, 2020-06, Vol.15 (6), p.e0234207-e0234207 [Periódico revisado por pares]

United States: Public Library of Science

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10
Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review
Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review
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Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review

Chu, Yung-Tsai ; Lin, Han-Yi ; Chen, Pei-Lung ; Lin, Chin-Hsien

BMC neurology, 2020-03, Vol.20 (1), p.101-101, Article 101 [Periódico revisado por pares]

England: BioMed Central Ltd

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