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majdi kara
majdi kara
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Title
Cited by
Cited by
Year
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders
G Novarino, AG Fenstermaker, MS Zaki, M Hofree, JL Silhavy, ...
science 343 (6170), 506-511, 2014
5592014
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
EM Scott, A Halees, Y Itan, EG Spencer, Y He, MA Azab, SB Gabriel, ...
Nature genetics 48 (9), 1071-1076, 2016
3432016
Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy
G Novarino, P El-Fishawy, H Kayserili, NA Meguid, EM Scott, J Schroth, ...
Science 338 (6105), 394-397, 2012
3232012
Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder
DC Tărlungeanu, E Deliu, CP Dotter, M Kara, PC Janiesch, M Scalise, ...
Cell 167 (6), 1481-1494. e18, 2016
2792016
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome
A Guemez-Gamboa, LN Nguyen, H Yang, MS Zaki, M Kara, T Ben-Omran, ...
Nature genetics 47 (7), 809-813, 2015
2302015
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ...
Nature communications 10 (1), 3094, 2019
1842019
Mutations in CSPP1 lead to classical Joubert syndrome
N Akizu, JL Silhavy, RO Rosti, E Scott, AG Fenstermaker, J Schroth, ...
The American Journal of Human Genetics 94 (1), 80-86, 2014
932014
Hypoglycemic effect of Rheum ribes roots in alloxan induced diabetic and normal mice.
H Özbek, E Ceylan, M Kara, F Özgökçe, M Koyuncu
812004
Clinical features and molecular epidemiology of rotavirus and norovirus infections in Libyan children
M Abugalia, L Cuevas, A Kirby, W Dove, O Nakagomi, T Nakagomi, ...
Journal of medical virology 83 (10), 1849-1856, 2011
772011
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration
AE Schaffer, MW Breuss, AO Caglayan, N Al-Sanaa, HY Al-Abdulwahed, ...
Nature genetics 50 (8), 1093-1101, 2018
702018
Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency
CR Coughlin, LA Tseng, JE Abdenur, C Ashmore, F Boemer, LA Bok, ...
Journal of inherited metabolic disease 44 (1), 178-192, 2021
692021
Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly
L Wang, Z Li, D Sievert, DEC Smith, MI Mendes, DY Chen, V Stanley, ...
Nature Communications 11 (1), 4038, 2020
542020
Phenotypic and molecular spectrum of Aicardi-Goutières syndrome: a study of 24 patients
F Al Mutairi, M Alfadhel, M Nashabat, AW El-Hattab, T Ben-Omran, ...
Pediatric Neurology 78, 35-40, 2018
492018
De novo and bi-allelic pathogenic variants in NARS1 cause neurodevelopmental delay due to toxic gain-of-function and partial loss-of-function effects
A Manole, S Efthymiou, E O’Connor, MI Mendes, M Jennings, ...
The American Journal of Human Genetics 107 (2), 311-324, 2020
392020
Rheum ribes (Uşkun) Kökü Ekstresinin Sağlıklı ve Diyabetli Farelerdeki Hipoglisemik Etkisi, 14
H Özbek, E Ceylan, M Kara, F Özgökçe, M Koyuncu
Bitkisel İlaç Hammaddeleri Toplantısı, Bildiri Kitabı B 13, 2002
92002
Rheum ribes (uşkun) kökünün normal farelerde ve alloxan’la diyabet oluşturulmuş farelerde hipoglisemik etkisi
H Özbek, E Ceylan, M Kara, F Özgökçe, M Koyuncu
XIV. BİHAT, 29-31, 2002
72002
AB0212 Comparison of the effects of polypharmacy in the treatment of rheumatoid arthritis patients and psoriatic arthritis patients with peripheral joint involvement
M Kara, SP Yavaş, A Taşdemir, S Ketenci
Annals of the Rheumatic Diseases 81 (Suppl 1), 1234-1235, 2022
32022
Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly
L Wang, Z Li, D Sievert, DEC Smith, MI Mendes, DY Chen, V Stanley, ...
Nature communications 12 (1), 1192, 2021
22021
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
E Calì, SJ Lin, C Rocca, Y Sahin, A Al Shamsi, S El Chehadeh, ...
Genetics in Medicine 24 (10), 2194-2203, 2022
12022
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
V Salpietro, R Maroofian, MS Zaki, J Wangen, A Ciolfi, S Barresi, ...
The American Journal of Human Genetics 111 (1), 200-210, 2024
2024
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