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Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.
Eur J Hum Genet. 2016 Jan;25(1):100-110. doi: 10.1038/ejhg.2016.108. Epub 2016 Sep 7.
Eur J Hum Genet. 2016.
PMID: 27601211
Free PMC article.
Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family.
Elsayed LEO, Mohammed IN, Hamed AAA, Elseed MA, Salih MAM, Yahia A, Siddig RA, Amin M, Koko M, Elbashir MI, Ibrahim ME, Brice A, Ahmed AE, Stevanin G.
Elsayed LEO, et al. Among authors: siddig ra.
BMC Med Genet. 2018 May 8;19(1):72. doi: 10.1186/s12881-018-0592-y.
BMC Med Genet. 2018.
PMID: 29739362
Free PMC article.
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An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.
Koko M, Yahia A, Elsayed LE, Hamed AA, Mohammed IN, Elseed MA, Hamad MHA, Babai AM, Siddig RA, Abd Allah ASI, Mohamed M, El-Amin M, Esteves T, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Salih MA, Ahmed AE, Lerche H, Stevanin G.
Koko M, et al. Among authors: siddig ra.
Ann Hum Genet. 2021 Sep;85(5):186-195. doi: 10.1111/ahg.12437. Epub 2021 Jun 10.
Ann Hum Genet. 2021.
PMID: 34111303
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A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease.
Elsayed LE, Drouet V, Usenko T, Mohammed IN, Hamed AA, Elseed MA, Salih MA, Koko ME, Mohamed AY, Siddig RA, Elbashir MI, Ibrahim ME, Durr A, Stevanin G, Lesage S, Ahmed AE, Brice A.
Elsayed LE, et al. Among authors: siddig ra.
Ann Neurol. 2016 Feb;79(2):335-7. doi: 10.1002/ana.24591. Epub 2016 Jan 19.
Ann Neurol. 2016.
PMID: 26703368
No abstract available.
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Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy.
Koko M, Elseed MA, Mohammed IN, Hamed AA, Abd Allah ASI, Yahia A, Siddig RA, Altmüller J, Toliat MR, Elmahdi EO, Amin M, Ahmed EA, Eltazi IZM, Elmugadam FA, Abdelgadir WA, Eltaraifee E, Ibrahim MOM, Ali NMH, Malik HM, Babai AM, Bakhit YH, Nürnberg P, Ibrahim ME, Salih MA, Schubert J, Elsayed LEO, Lerche H.
Koko M, et al. Among authors: siddig ra.
Eur J Hum Genet. 2024 Feb 5. doi: 10.1038/s41431-024-01541-x. Online ahead of print.
Eur J Hum Genet. 2024.
PMID: 38316952
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