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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
Autosomal Recessive Juvenile Parkinsonism Maps to 6q25.2-q27 in Four Ethnic Groups: Detailed Genetic Mapping of the Linked Region
Autosomal Recessive Juvenile Parkinsonism Maps to 6q25.2-q27 in Four Ethnic Groups: Detailed Genetic Mapping of the Linked Region
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Autosomal Recessive Juvenile Parkinsonism Maps to 6q25.2-q27 in Four Ethnic Groups: Detailed Genetic Mapping of the Linked Region

Jones, Alison C. ; Yamamura, Yasuhiro ; Almasy, Laura ; Bohlega, Saeed ; Elibol, Bülent ; Hubble, Jean ; Kuzuhara, Shigeki ; Uchida, Masao ; Yanagi, Tsutomu ; Weeks, Daniel E. ; Nygaard, Torbjoern G.

American journal of human genetics, 1998-07, Vol.63 (1), p.80-87 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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3
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 [Periódico revisado por pares]

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

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4
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 [Periódico revisado por pares]

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

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5
Cyclosporine-induced migraine with severe vomiting causing loss of renal graft
Cyclosporine-induced migraine with severe vomiting causing loss of renal graft
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Cyclosporine-induced migraine with severe vomiting causing loss of renal graft

Maghrabi, Khalid ; Bohlega, Saeed

Clinical neurology and neurosurgery, 1998-09, Vol.100 (3), p.224-227 [Periódico revisado por pares]

Amsterdam: Elsevier B.V

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6
Genotype–phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype
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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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, Vol.11 (11), p.1263-1271 [Periódico revisado por pares]

Oxford: Oxford University Press

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7
Guillain-Barré syndrome with severe demyelination mimicking axonopathy
Guillain-Barré syndrome with severe demyelination mimicking axonopathy
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Guillain-Barré syndrome with severe demyelination mimicking axonopathy

Bohlega, Saeed A. ; Stigsby, Bent ; Haider, A. ; McLean, Donald

Muscle & nerve, 1997-04, Vol.20 (4), p.514-516 [Periódico revisado por pares]

New York: John Wiley & Sons, Inc

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8
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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9
Multiphasic disseminated encephalomyelitis presenting as alternating hemiplegia
Multiphasic disseminated encephalomyelitis presenting as alternating hemiplegia
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Multiphasic disseminated encephalomyelitis presenting as alternating hemiplegia

Khan, S ; Yaqub, B A ; Poser, C M ; al Deeb, S M ; Bohlega, S

Journal of neurology, neurosurgery and psychiatry, 1995-04, Vol.58 (4), p.467-470 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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10
Mutations in NHLRC1 cause progressive myoclonus epilepsy
Mutations in NHLRC1 cause progressive myoclonus epilepsy
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Mutations in NHLRC1 cause progressive myoclonus epilepsy

Minassian, Berge A ; Scherer, Stephen W ; Chan, Elayne M ; Young, Edwin J ; Ianzano, Leonarda ; Munteanu, Iulia ; Zhao, Xiaochu ; Christopoulos, Constantine C ; Avanzini, Giuliano ; Elia, Maurizio ; Ackerley, Cameron A ; Jovic, Nebojsa J ; Bohlega, Saeed ; Andermann, Eva ; Rouleau, Guy A ; Delgado-Escueta, Antonio V

Nature genetics, 2003-10, Vol.35 (2), p.125-127 [Periódico revisado por pares]

London: Nature Publishing Group

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