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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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2
Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution
Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution
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Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution

Jagota, Priya ; Ugawa, Yoshikazu ; Aldaajani, Zakiyah ; Ibrahim, Norlinah Mohamed ; Ishiura, Hiroyuki ; Nomura, Yoshiko ; Tsuji, Shoji ; Diesta, Cid ; Hattori, Nobutaka ; Onodera, Osamu ; Bohlega, Saeed ; Al-Din, Amir ; Lim, Shen-Yang ; Lee, Jee-Young ; Jeon, Beomseok ; Pal, Pramod Kumar ; Shang, Huifang ; Fujioka, Shinsuke ; Kukkle, Prashanth Lingappa ; Phokaewvarangkul, Onanong ; Lin, Chin-Hsien ; Shambetova, Cholpon ; Bhidayasiri, Roongroj

Journal Of Movement Disorders, 2023, 16(3), , pp.231-247 [Periódico revisado por pares]

The Korean Movement Disorder Society

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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
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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5
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
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Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

Brown, Robert H ; Liu, Jing ; Aoki, Masashi ; Illa, Isabel ; Wu, Chenyan ; Fardeau, Michel ; Angelini, Corrado ; Serrano, Carmen ; Urtizberea, J. Andoni ; Hentati, Faycal ; Hamida, Mongi Ben ; Bohlega, Saeed ; Culper, Edward J ; Amato, Anthony A ; Bossie, Karen ; Oeltjen, Joshua ; Bejaoui, Khemissa ; McKenna-Yasek, Diane ; Hosler, Betsy A ; Schurr, Erwin ; Arahata, Kiichi ; de Jong, Pieter J

Nature genetics, 1998-09, Vol.20 (1), p.31-36 [Periódico revisado por pares]

London: Nature Publishing Group

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6
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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7
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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8
Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues
Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues
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Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues

Bohlega, Saeed ; Al-Ajlan, Huda ; Al-Saif, Amr

European journal of human genetics : EJHG, 2014-05, Vol.22 (5), p.640-643 [Periódico revisado por pares]

England: Nature Publishing Group

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9
Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features
Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features
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Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features

Cupler, Edward J ; Bohlega, Saeed ; Hessler, Richard ; McLean, Donald ; Stigsby, Bent ; Ahmad, Javed

Neuromuscular disorders : NMD, 1998-06, Vol.8 (5), p.321-326 [Periódico revisado por pares]

England: Elsevier B.V

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10
Additional file 3: of Identification of a novel genetic locus underlying tremor and dystonia
Additional file 3: of Identification of a novel genetic locus underlying tremor and dystonia
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Additional file 3: of Identification of a novel genetic locus underlying tremor and dystonia

Monies, Dorota ; Al-Shaar, Hussam ; Goljan, Ewa ; Banan Al-Younes ; Al-Breacan, Muna ; Al-Saif, Maher ; Wakil, Salma ; Meyer, Brian ; Khabar, Khalid ; Bohlega, Saeed

Figshare 2017

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