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A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia
A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia
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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 [Revista revisada por pares]

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

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2
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 [Revista revisada por pares]

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

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3
Autosomal-recessive syndrome with alopecia, hypadism, progressive extra- pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1
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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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 [Revista revisada por pares]

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4
Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1
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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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 [Revista revisada por pares]

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

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5
Cerebrotendinous xanthomatosis: A candidate for ACMG list of secondary findings?
Cerebrotendinous xanthomatosis: A candidate for ACMG list of secondary findings?
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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 [Revista revisada por pares]

Oxford, UK: Blackwell Publishing Ltd

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6
Chorea-acanthocytosis: Clinical and genetic findings in three families from the Arabian peninsula
Chorea-acanthocytosis: Clinical and genetic findings in three families from the Arabian peninsula
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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 [Revista revisada por pares]

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

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7
Dissecting the Phenotype and Genotype of PLA2G6‐Related Parkinsonism
Dissecting the Phenotype and Genotype of PLA2G6‐Related Parkinsonism
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Dissecting the Phenotype and Genotype of PLA2G6‐Related Parkinsonism

Magrinelli, Francesca ; Mehta, Sahil ; Di Lazzaro, Giulia ; Latorre, Anna ; Edwards, Mark J. ; Balint, Bettina ; Basu, Purba ; Kobylecki, Christopher ; Groppa, Sergiu ; Hegde, Anaita ; Mulroy, Eoin ; Estevez‐Fraga, Carlos ; Arora, Anshita ; Kumar, Hrishikesh ; Schneider, Susanne A. ; Lewis, Patrick A. ; Jaunmuktane, Zane ; Revesz, Tamas ; Gandhi, Sonia ; Wood, Nicholas W. ; Hardy, John A. ; Tinazzi, Michele ; Lal, Vivek ; Houlden, Henry ; Bhatia, Kailash P.

Movement disorders, 2022-01, Vol.37 (1), p.148-161 [Revista revisada por pares]

Hoboken, USA: John Wiley & Sons, Inc

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8
Expert opinion on clinical experience with subcutaneous interferon beta‐1a in multiple sclerosis patients with different disease activity profiles
Expert opinion on clinical experience with subcutaneous interferon beta‐1a in multiple sclerosis patients with different disease activity profiles
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Expert opinion on clinical experience with subcutaneous interferon beta‐1a in multiple sclerosis patients with different disease activity profiles

Bohlega, Saeed ; Alroughani, Raed ; Alkhawajah, Mona ; Alsaadi, Taoufik ; Daif, Abdulkader ; Elalamy, Osama R. ; Inshasi, Jihad S. ; Noori, Suzan ; Shakra, Mustafa ; Shatila, Ahmed O. ; Boghdady, Ahmed El ; Boshra, Amir

Neurology and clinical neuroscience, 2019-09, Vol.7 (5), p.260-266 [Revista revisada por pares]

Tokyo: Wiley Subscription Services, Inc

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9
Gastrointestinal involvement in neuromuscular disorders
Gastrointestinal involvement in neuromuscular disorders
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Gastrointestinal involvement in neuromuscular disorders

Finsterer, Josef ; Strobl, Walter

Journal of gastroenterology and hepatology, 2024-06 [Revista revisada por pares]

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10
Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy
Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy
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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 [Revista revisada por pares]

New York: John Wiley & Sons, Inc

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