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Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features
Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features
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Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features

Cupler, Edward J ; Bohlega, Saeed ; Hessler, Richard ; McLean, Donald ; Stigsby, Bent ; Ahmad, Javed

Neuromuscular disorders : NMD, 1998-06, Vol.8 (5), p.321-326 [Periódico revisado por pares]

England: Elsevier B.V

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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
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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4
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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5
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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6
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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7
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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8
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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9
CADASIL in Arabs: clinical and genetic findings
CADASIL in Arabs: clinical and genetic findings
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CADASIL in Arabs: clinical and genetic findings

Bohlega, Saeed ; Al Shubili, Asmahan ; Edris, Abdulrahman ; Alreshaid, Abdulrahman ; Alkhairallah, Thamer ; AlSous, M Walid ; Farah, Samir ; Abu-Amero, Khaled K

BMC medical genetics, 2007-11, Vol.8 (1), p.67-67, Article 67 [Periódico revisado por pares]

England: BioMed Central Ltd

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10
Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome
Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome
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Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome

Alazami, Anas M. ; Al-Saif, Amr ; Al-Semari, Abdulaziz ; Bohlega, Saeed ; Zlitni, Soumaya ; Alzahrani, Fatema ; Bavi, Prashant ; Kaya, Namik ; Colak, Dilek ; Khalak, Hanif ; Baltus, Andy ; Peterlin, Borut ; Danda, Sumita ; Bhatia, Kailash P. ; Schneider, Susanne A. ; Sakati, Nadia ; Walsh, Christopher A. ; Al-Mohanna, Futwan ; Meyer, Brian ; Alkuraya, Fowzan S.

American journal of human genetics, 2008-12, Vol.83 (6), p.684-691 [Periódico revisado por pares]

United States: Elsevier Inc

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