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Refinado por: Base de dados/Biblioteca: Open Access: PubMed Central remover
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1
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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2
Ataxia and Hypogonadotropic Hypogonadism with Intrafamilial Variability Caused by RNF216 Mutation
Ataxia and Hypogonadotropic Hypogonadism with Intrafamilial Variability Caused by RNF216 Mutation
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Ataxia and Hypogonadotropic Hypogonadism with Intrafamilial Variability Caused by RNF216 Mutation

Alqwaifly, Mohammed ; Bohlega, Saeed

Neurology international, 2016-06, Vol.8 (2), p.6444-6444 [Periódico revisado por pares]

Italy: MDPI AG

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3
Autosomal Recessive Juvenile Parkinsonism Maps to 6q25.2-q27 in Four Ethnic Groups: Detailed Genetic Mapping of the Linked Region
Autosomal Recessive Juvenile Parkinsonism Maps to 6q25.2-q27 in Four Ethnic Groups: Detailed Genetic Mapping of the Linked Region
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Autosomal Recessive Juvenile Parkinsonism Maps to 6q25.2-q27 in Four Ethnic Groups: Detailed Genetic Mapping of the Linked Region

Jones, Alison C. ; Yamamura, Yasuhiro ; Almasy, Laura ; Bohlega, Saeed ; Elibol, Bülent ; Hubble, Jean ; Kuzuhara, Shigeki ; Uchida, Masao ; Yanagi, Tsutomu ; Weeks, Daniel E. ; Nygaard, Torbjoern G.

American journal of human genetics, 1998-07, Vol.63 (1), p.80-87 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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4
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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5
Case Report: A Novel Splice-Site Mutation in DNAJB6 Associated With Juvenile-Onset Proximal–Distal Myopathy in a Chinese Patient
Case Report: A Novel Splice-Site Mutation in DNAJB6 Associated With Juvenile-Onset Proximal–Distal Myopathy in a Chinese Patient
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Case Report: A Novel Splice-Site Mutation in DNAJB6 Associated With Juvenile-Onset Proximal–Distal Myopathy in a Chinese Patient

Ji, Guang ; Wang, Ning ; Han, Xu ; Wang, Yaye ; Zhang, Jinru ; Wu, Yue ; Wu, Hongran ; Ma, Shaojuan ; Song, Xueqin

Frontiers in genetics, 2022-06, Vol.13 [Periódico revisado por pares]

Frontiers Media S.A

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6
Cladribine Tablets and Relapsing–Remitting Multiple Sclerosis: A Pragmatic, Narrative Review of What Physicians Need to Know
Cladribine Tablets and Relapsing–Remitting Multiple Sclerosis: A Pragmatic, Narrative Review of What Physicians Need to Know
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Cladribine Tablets and Relapsing–Remitting Multiple Sclerosis: A Pragmatic, Narrative Review of What Physicians Need to Know

AlJumah, Mohamed ; Alkhawajah, Mona Marwan ; Qureshi, Shireen ; Al-Thubaiti, Ibtisam ; Ayoub, Omar ; Bohlega, Saeed A. ; Bushnag, Areej ; Cupler, Edward ; Daif, Abdulkader ; El Boghdady, Ahmed ; Hassan, Ahmed ; Al Malik, Yaser ; Saeedi, Jameelah ; Al-Shamrany, Fawzia ; Shosha, Eslam ; Rieckmann, Peter

Neurology and therapy, 2020-06, Vol.9 (1), p.11-23 [Periódico revisado por pares]

Cheshire: Springer Healthcare

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7
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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8
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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9
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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10
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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