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Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders
Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders
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Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders

Bohlega, Saeed A. ; Abou-Al-Shaar, Hussam ; AlDakheel, Amaal ; Alajlan, Huda ; Bohlega, Balsam S. ; Meyer, Brian F. ; Monies, Dorota ; Cupler, Edward J. ; Al-Saif, Amr M.

Parkinsonism & related disorders, 2019-07, Vol.64, p.145-149 [Periódico revisado por pares]

England: Elsevier Ltd

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2
Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia
Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia
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Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia

Alharbi, Norah ; Matar, Rawan ; Cupler, Edward ; Al-Hindi, Hindi ; Murad, Hatem ; Alhomud, Iftteah ; Monies, Dorota ; Alshehri, Ali ; Alyahya, Mossaed ; Meyer, Brian ; Bohlega, Saeed

Frontiers in neuroscience, 2022-02, Vol.16, p.815556-815556 [Periódico revisado por pares]

Switzerland: Frontiers Research Foundation

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3
LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation
LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation
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LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation

Bohlega, Saeed A ; Alfawaz, Sarah ; Abou-Al-Shaar, Hussam ; Al-Hindi, Hindi N ; Murad, Hatem N ; Bohlega, Mohamed S ; Meyer, Brian F ; Monies, Dorota

Acta myologica, 2018-09, Vol.37 (3), p.221-226 [Periódico revisado por pares]

Italy: Pacini Editore srl

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4
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 Ltd

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5
Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene
Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene
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Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene

Wakil, Salma M. ; Monies, Dorota ; Hagos, Samya ; Al-Ajlan, Fahad ; Finsterer, Josef ; Al Qahtani, Aisha ; Ramzan, Khushnooda ; Al Humaidy, Rawan ; Al-Muhaizea, Mohamed A. ; Meyer, Brian ; Bohlega, Saeed A. Paracchini, Silvia

Case reports in genetics, 2018, Vol.2018, p.9468049-5 [Periódico revisado por pares]

United States: Hindawi

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6
Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families
Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families
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Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

Alazami, Anas M. ; Patel, Nisha ; Shamseldin, Hanan E. ; Anazi, Shamsa ; Al-Dosari, Mohammed S. ; Alzahrani, Fatema ; Hijazi, Hadia ; Alshammari, Muneera ; Aldahmesh, Mohammed A. ; Salih, Mustafa A. ; Faqeih, Eissa ; Alhashem, Amal ; Bashiri, Fahad A. ; Al-Owain, Mohammed ; Kentab, Amal Y. ; Sogaty, Sameera ; Al Tala, Saeed ; Temsah, Mohamad-Hani ; Tulbah, Maha ; Aljelaify, Rasha F. ; Alshahwan, Saad A. ; Seidahmed, Mohammed Zain ; Alhadid, Adnan A. ; Aldhalaan, Hesham ; AlQallaf, Fatema ; Kurdi, Wesam ; Alfadhel, Majid ; Babay, Zainab ; Alsogheer, Mohammad ; Kaya, Namik ; Al-Hassnan, Zuhair N. ; Abdel-Salam, Ghada M.H. ; Al-Sannaa, Nouriya ; Al Mutairi, Fuad ; El Khashab, Heba Y. ; Bohlega, Saeed ; Jia, Xiaofei ; Nguyen, Henry C. ; Hammami, Rakad ; Adly, Nouran ; Mohamed, Jawahir Y. ; Abdulwahab, Firdous ; Ibrahim, Niema ; Naim, Ewa A. ; Al-Younes, Banan ; Meyer, Brian F. ; Hashem, Mais ; Shaheen, Ranad ; Xiong, Yong ; Abouelhoda, Mohamed ; Aldeeri, Abdulrahman A. ; Monies, Dorota M. ; Alkuraya, Fowzan S.

Cell reports (Cambridge), 2015-01, Vol.10 (2), p.148-161 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Autosomal recessive hereditary spastic paraplegia with thin corpus callosum among Saudis
Autosomal recessive hereditary spastic paraplegia with thin corpus callosum among Saudis
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Autosomal recessive hereditary spastic paraplegia with thin corpus callosum among Saudis

Wakil, Salma M ; Murad, Hatem N ; Baz, Batoul M ; Hagos, Samiya T ; Al-Amr, Rana A ; Al-Yamani, Suad A ; Al-Wadaee, Salem M ; Meyer, Brian F ; Bohlega, Saeed A

Neurosciences (Riyadh, Saudi Arabia), 2012-01, Vol.17 (1), p.48-52 [Periódico revisado por pares]

Saudi Arabia

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8
Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family
Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family
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Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family

Al-Shaar, Hussam Abou ; Qadi, Najeeb ; Ahmed, Mohammed ; Meyer, Brian F ; Bohlega, Saeed

Journal of the neurological sciences, 2016-08, Vol.367, p.239-243 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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9
Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome
Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome
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Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome

Alazami, Anas M. ; Al-Saif, Amr ; Al-Semari, Abdulaziz ; Bohlega, Saeed ; Zlitni, Soumaya ; Alzahrani, Fatema ; Bavi, Prashant ; Kaya, Namik ; Colak, Dilek ; Khalak, Hanif ; Baltus, Andy ; Peterlin, Borut ; Danda, Sumita ; Bhatia, Kailash P. ; Schneider, Susanne A. ; Sakati, Nadia ; Walsh, Christopher A. ; Al-Mohanna, Futwan ; Meyer, Brian ; Alkuraya, Fowzan S.

American journal of human genetics, 2008-12, Vol.83 (6), p.684-691 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Complicated Hereditary Paraplegia with Novel B4GALNT1 Mutations Expanding, the Phenotype and Genotype (P7.075)
Complicated Hereditary Paraplegia with Novel B4GALNT1 Mutations Expanding, the Phenotype and Genotype (P7.075)
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Complicated Hereditary Paraplegia with Novel B4GALNT1 Mutations Expanding, the Phenotype and Genotype (P7.075)

Bohlega, Saeed ; Wakil, Salma ; Monies, Dorota ; Cupler, Edward ; Bastaki, Layla ; Meyer, Brian

Neurology, 2014-04, Vol.82 (10_supplement) [Periódico revisado por pares]

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