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Refinado por: Base de dados/Biblioteca: Single Journals remover
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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
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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3
Hypogonadism, alopecia and neurological manifestations: evolving syndromes from an old association. (P4.9-060)
Hypogonadism, alopecia and neurological manifestations: evolving syndromes from an old association. (P4.9-060)
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Hypogonadism, alopecia and neurological manifestations: evolving syndromes from an old association. (P4.9-060)

Abusrair, Ali ; Bohlega, Saeed

Neurology, 2019-04, Vol.92 (15_supplement) [Periódico revisado por pares]

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4
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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5
Expanding the genotype-phenotype landscape of PDE10A-associated movement disorders (S42.004)
Expanding the genotype-phenotype landscape of PDE10A-associated movement disorders (S42.004)
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Expanding the genotype-phenotype landscape of PDE10A-associated movement disorders (S42.004)

Bohlega, Saeed ; Al-Qahtani, Zainah ; Guzmán-Vega, Francisco J. ; Ramakrishnan, Reshmi ; Abusrair, Ali ; Aldosari, Haya ; AlDakheel, Amaal ; Al-Qahtani, Salma ; Monies, Dorota ; Arold, Stefan

Neurology, 2023-04, Vol.100 (17_supplement_2) [Periódico revisado por pares]

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6
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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7
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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8
Brain MRI findings in Woodhouse-Sakati Syndrome (P6.071)
Brain MRI findings in Woodhouse-Sakati Syndrome (P6.071)
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Brain MRI findings in Woodhouse-Sakati Syndrome (P6.071)

Abusrair, Ali ; Bohlega, Saeed ; Al-Ajlan, Fahad ; Al-Semari, Abdulaziz ; Mohamed, Bader ; AlDakheel, Amaal

Neurology, 2018-04, Vol.90 (15_supplement) [Periódico revisado por pares]

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9
SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3
SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3
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SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3

Alazami, Anas M ; Alzahrani, Fatema ; Bohlega, Saeed ; Alkuraya, Fowzan S

Neurology, 2014-05, Vol.82 (18), p.1665-1666 [Periódico revisado por pares]

United States: American Academy of Neurology

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10
Pattern reversal visual evoked potentials (prVEPs) in autosomal recessive hereditary spastic paraplegia with thin corpus callosum (ARHSPTCC) patients with SPG 11 mutations in Saudi Arabia (P2.206)
Pattern reversal visual evoked potentials (prVEPs) in autosomal recessive hereditary spastic paraplegia with thin corpus callosum (ARHSPTCC) patients with SPG 11 mutations in Saudi Arabia (P2.206)
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Pattern reversal visual evoked potentials (prVEPs) in autosomal recessive hereditary spastic paraplegia with thin corpus callosum (ARHSPTCC) patients with SPG 11 mutations in Saudi Arabia (P2.206)

Al-Faidi, Nouf ; Ali, Qurban ; Al Said, Youssef ; Karim, Gulzar ; Khan, Haji ; Bohlega, Saeed ; Cupler, Edward

Neurology, 2017-04, Vol.88 (16_supplement) [Periódico revisado por pares]

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