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Refinado por: autor: Bohlega, Saeed remover Base de dados/Biblioteca: Wiley-Blackwell Full Collection 2013 remover
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1
A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis
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Artigo
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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
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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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3
Cerebrotendinous xanthomatosis: A candidate for ACMG list of secondary findings?
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Artigo
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Cerebrotendinous xanthomatosis: A candidate for ACMG list of secondary findings?

Khouj, Ebtissal ; Bohlega, Saeed ; Alkuraya, Fowzan S.

Clinical genetics, 2023-01, Vol.103 (1), p.125-126 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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4
Unilateral pallidotomy for hemidystonia
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Artigo
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Unilateral pallidotomy for hemidystonia

Alkhani, Ahmed ; Bohlega, Saeed

Movement disorders, 2006-06, Vol.21 (6), p.852-855 [Periódico revisado por pares]

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

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5
Chorea-acanthocytosis: Clinical and genetic findings in three families from the Arabian peninsula
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Artigo
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Chorea-acanthocytosis: Clinical and genetic findings in three families from the Arabian peninsula

Bohlega, Saeed ; Al-Jishi, Adel ; Dobson-Stone, Carol ; Rampoldi, Luca ; Saha, Parthasarathi ; Murad, Hatem ; Kareem, Abid ; Roberts, George ; Monaco, Anthony P.

Movement disorders, 2003-04, Vol.18 (4), p.403-407 [Periódico revisado por pares]

New York: Wiley Subscription Services, Inc., A Wiley Company

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6
Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1
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Artigo
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Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1

Al-Semari, Abdulaziz ; Bohlega, Saeed

American journal of medical genetics. Part A, 2007-01, Vol.143A (2), p.149-160 [Periódico revisado por pares]

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

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7
Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy
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Artigo
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Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy

Minassian, Berge A. ; Sainz, Jesus ; Serratosa, Jose M. ; Gee, Manyee ; Sakamoto, Lise M. ; Bohlega, Saeed ; Geoffroy, Guy ; Barr, Cathy ; Scherer, Steve W. ; Tomiyasu, Uwamie ; Carpenter, Stirling ; Wigg, Karen ; Sanghvi, A. V. ; Delgado-Escueta, Antonio V.

Annals of neurology, 1999-02, Vol.45 (2), p.262-265 [Periódico revisado por pares]

New York: John Wiley & Sons, Inc

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8
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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9
Autosomal-recessive syndrome with alopecia, hypadism, progressive extra- pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1
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Artigo
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Autosomal-recessive syndrome with alopecia, hypadism, progressive extra- pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1

Al-Semari, Abdulaziz ; Bohlega, Saeed

American journal of medical genetics. Part A, 2007-01, Vol.143A (2), p.149-160 [Periódico revisado por pares]

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10
Myelopathy after intrathecal chemotherapy. A case report with unique magnetic resonance imaging changes
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Artigo
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Myelopathy after intrathecal chemotherapy. A case report with unique magnetic resonance imaging changes

McLean, Donald R. ; Clink, Hugh M. ; Ernst, Peter ; Coates, Robert ; Zuheir Al Kawi, M. ; Bohlega, Saeed ; Omer, Salah

Cancer, 1994-06, Vol.73 (12), p.3037-3040 [Periódico revisado por pares]

New York: Wiley Subscription Services, Inc., A Wiley Company

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