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Refinado por: assunto: Adolescent remover
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1
Loss of ERLIN2 function leads to juvenile primary lateral sclerosis
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Artigo
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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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2
Neurological complications in liver transplantation
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Artigo
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Neurological complications in liver transplantation

Ghaus, Naveed ; Bohlega, Saeed ; Rezeig, Mohammed

Journal of neurology, 2001-12, Vol.248 (12), p.1042-1048 [Periódico revisado por pares]

Darmstadt: Steinkopff Verlag

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3
A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia
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Artigo
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A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia

Al Tassan, Nada ; Khalil, Dania ; Shinwari, Jameela ; Al Sharif, Latifa ; Bavi, Prashant ; Abduljaleel, Zainularifeen ; Abu Dhaim, Nada ; Magrashi, Amna ; Bobis, Steve ; Ahmed, Hala ; AlAhmed, Samaher ; Bohlega, Saeed

Human mutation, 2012-02, Vol.33 (2), p.351-354 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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4
Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia
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Artigo
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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, 2011-02-16, Vol.12 (1), p.27-27 [Periódico revisado por pares]

England: BioMed Central Ltd

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5
Identification of a novel genetic locus underlying tremor and dystonia
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Artigo
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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, 2017-11-06, Vol.11 (1), p.25-25 [Periódico revisado por pares]

England: BMC

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6
Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family
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Artigo
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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, 2015, Vol.367, p.239-243 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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7
Genotype–phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype
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Artigo
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Genotype–phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype

Ganesh, Subramaniam ; Delgado-Escueta, Antonio V ; Suzuki, Toshimitsu ; Francheschetti, Silvana ; Riggio, Concetta ; Avanzini, Giuiliano ; Rabinowicz, Adrian ; Bohlega, Saeed ; Bailey, Julia ; Alonso, Maria E ; Rasmussen, Astrid ; Thomson, Alfredo E ; Ochoa, Adriana ; Prado, Aurelio J ; Medina, Marco T ; Yamakawa, Kazuhiro

Human molecular genetics, 2002-05-16, Vol.11 (11), p.1263-1271 [Periódico revisado por pares]

Oxford: Oxford University Press

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8
Neurobrucellosis: Clinical and neuroimaging correlation
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Artigo
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Neurobrucellosis: Clinical and neuroimaging correlation

AL-SOUS, M. Walid ; BOHLEGA, Saeed ; AL-KAWI, M. Zuheir ; ALWATBAN, Jehad ; MCLEAN, Donald R

American journal of neuroradiology : AJNR, 2004, Vol.25 (3), p.395-401 [Periódico revisado por pares]

Oak Brook, IL: American Society of Neuroradiology

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9
Parkinson's Disease in Saudi Patients: A Genetic Study
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Artigo
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Parkinson's Disease in Saudi Patients: A Genetic Study

Al-Mubarak, Bashayer R ; Bohlega, Saeed A ; Alkhairallah, Thamer S ; Magrashi, Amna I ; AlTurki, Maha I ; Khalil, Dania S ; AlAbdulaziz, Basma S ; Abou Al-Shaar, Hussam ; Mustafa, Abeer E ; Alyemni, Eman A ; Alsaffar, Bashayer A ; Tahir, Asma I ; Al Tassan, Nada A Cookson, Mark R

PloS one, 2015, Vol.10 (8), p.e0135950-e0135950

United States: Public Library of Science

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10
Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome
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Artigo
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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, Vol.24 (4), p.353-359 [Periódico revisado por pares]

England: Elsevier B.V

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