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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
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
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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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
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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6
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 [Periódico revisado por pares]

New York: John Wiley & Sons, Inc

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7
Neurodegenerative Huntington-like disorder
Neurodegenerative Huntington-like disorder
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Neurodegenerative Huntington-like disorder

Bohlega, Saeed ; Al-Tahan, Abdulrahman ; Kambouris, Marios ; Divakaran, Madai

Movement disorders, 2001-05, Vol.16 (3), p.533-534 [Periódico revisado por pares]

New York: John Wiley & Sons, Inc

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8
T313M PINK1 Mutation in an Extended Highly Consanguineous Saudi Family With Early-Onset Parkinson Disease
T313M PINK1 Mutation in an Extended Highly Consanguineous Saudi Family With Early-Onset Parkinson Disease
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T313M PINK1 Mutation in an Extended Highly Consanguineous Saudi Family With Early-Onset Parkinson Disease

Chishti, Muhammad A ; Bohlega, Saeed ; Ahmed, Maqbool ; Loualich, Arslan ; Carroll, Pamela ; Sato, Christine ; St George-Hyslop, Peter ; Westaway, David ; Rogaeva, Ekaterina

Archives of neurology (Chicago), 2006-10, Vol.63 (10), p.1483-1485

Chicago, IL: American Medical Association

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9
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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10
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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