18 results for author:"Bohlega S." in Literature citations
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| Loss of ERLIN2 function leads to juvenile primary lateral sclerosis. Al-Saif A., Bohlega S., Al-Mohanna F. Ann. Neurol. 72:510-516(2012) · Mapped (1) |
| Autosomal recessive hereditary spastic paraplegia with thin corpus callosum among Saudis. Wakil S.M., Murad H.N., Baz B.M., Hagos S.T., Al-Amr R.A., Al-Yamani S.A., Al-Wadaee S.M., Meyer B.F., Bohlega S.A. Neurosciences (Riyadh) 17:48-52(2012) · Mapped (11) |
| A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. Tassan N.A., Khalil D., Shinwari J., Sharif L.A., Bavi P., Abduljaleel Z., Abu Dhaim N., Magrashi A., Bobis S., Ahmed H. et al. |
| A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis. Al-Saif A., Al-Mohanna F., Bohlega S. Ann. Neurol. 70:913-919(2011) · UniProtKB (1) |
| Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia. Bohlega S.A., Shinwari J.M., Al Sharif L.J., Khalil D.S., Alkhairallah T.S., Al Tassan N.A. BMC Med. Genet. 12:27-27(2011) · Mapped (6) |
| Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure. Bohlega S., Van Goethem G., Al Semari A., Lofgren A., Al Hamed M., Van Broeckhoven C., Kambouris M. Neuromuscul. Disord. 19:845-848(2009) · UniProtKB (1) |
| HLA class I and class II polymorphisms in Saudi patients with myasthenia gravis. Hajeer A.H., Sawidan F.A., Bohlega S., Saleh S., Sutton P., Shubaili A., Tahan A.A., Al Jumah M. Int. J. Immunogenet. 36:169-172(2009) · Mapped (1,922) |
| Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. Alazami A.M., Al-Saif A., Al-Semari A., Bohlega S., Zlitni S., Alzahrani F., Bavi P., Kaya N., Colak D., Khalak H. et al. Am. J. Hum. Genet. 83:684-691(2008) · UniProtKB (2) · Mapped (2) |
| Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in Arabs. Bohlega S.A., Abu-Amero K.K. Saudi Med J 29:952-956(2008) · Mapped (3) |
| CADASIL in Arabs: clinical and genetic findings. Bohlega S., Al Shubili A., Edris A., Alreshaid A., Alkhairallah T., AlSous M.W., Farah S., Abu-Amero K.K. BMC Med. Genet. 8:67-67(2007) · Mapped (3) |
| T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease. Chishti M.A., Bohlega S., Ahmed M., Loualich A., Carroll P., Sato C., St George-Hyslop P., Westaway D., Rogaeva E. Arch. Neurol. 63:1483-1485(2006) · UniProtKB (1) |
| Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy. Bohlega S., Abu-Amero S.N., Wakil S.M., Carroll P., Al-Amr R., Lach B., Al-Sayed Y., Cupler E.J., Meyer B.F. Neurology 62:1518-1521(2004) · UniProtKB (1) |
| Mutations in NHLRC1 cause progressive myoclonus epilepsy. Chan E.M., Young E.J., Ianzano L., Munteanu I., Zhao X., Christopoulos C.C., Avanzini G., Elia M., Ackerley C.A., Jovic N.J. et al. |
| Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Dobson-Stone C., Danek A., Rampoldi L., Hardie R.J., Chalmers R.M., Wood N.W., Bohlega S., Dotti M.T., Federico A., Shizuka M. et al. Eur. J. Hum. Genet. 10:773-781(2002) · UniProtKB (1) |
| Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype. Ganesh S., Delgado-Escueta A.V., Suzuki T., Francheschetti S., Riggio C., Avanzini G., Rabinowicz A., Bohlega S., Bailey J., Alonso M.E. et al. Hum. Mol. Genet. 11:1263-1271(2002) · UniProtKB (1) · Mapped (2) |
| Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. Aoki M., Liu J., Richard I., Bashir R., Britton S., Keers S.M., Oeltjen J., Brown H.E.V., Marchand S., Bourg N. et al. Neurology 57:271-278(2001) · UniProtKB (1) |
| Novel mutations in spastin gene and absence of correlation with age at onset of symptoms. Hentati A., Deng H.-X., Zhai H., Chen W., Yang Y., Hung W.-Y., Azim A.C., Bohlega S., Tandan R., Warner C. et al. Neurology 55:1388-1390(2000) · UniProtKB (1) |
| Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Liu J., Aoki M., Illa I., Wu C., Fardeau M., Angelini C., Serrano C., Urtizberea J.A., Hentati F., Hamida M.B. et al. |