Mahajnah M - Search Results

1

A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly.

Mochida GH, Mahajnah M, Hill AD, Basel-Vanagaite L, Gleason D, Hill RS, Bodell A, Crosier M, Straussberg R, Walsh CA. Mochida GH, et al. Among authors: mahajnah m. Am J Hum Genet. 2009 Dec;85(6):897-902. doi: 10.1016/j.ajhg.2009.10.027. Am J Hum Genet. 2009. PMID: 20004763 Free PMC article.

2

An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures.

Straussberg R, Basel-Vanagaite L, Kivity S, Dabby R, Cirak S, Nurnberg P, Voit T, Mahajnah M, Inbar D, Saifi GM, Lupski JR, Delague V, Megarbane A, Richter A, Leshinsky E, Berkovic SF. Straussberg R, et al. Among authors: mahajnah m. Neurology. 2005 Jan 11;64(1):142-4. doi: 10.1212/01.WNL.0000148600.60470.E6. Neurology. 2005. PMID: 15642921

3

Familial cognitive impairment with ataxia with oculomotor apraxia.

Mahajnah M, Basel-Vanagaite L, Inbar D, Kornreich L, Weitz R, Straussberg R. Mahajnah M, et al. J Child Neurol. 2005 Jun;20(6):523-5. doi: 10.1177/088307380502000610. J Child Neurol. 2005. PMID: 15996403

4

Benign hereditary chorea: clinical, neuroimaging, and genetic findings.

Mahajnah M, Inbar D, Steinmetz A, Heutink P, Breedveld GJ, Straussberg R. Mahajnah M, et al. J Child Neurol. 2007 Oct;22(10):1231-4. doi: 10.1177/0883073807306261. J Child Neurol. 2007. PMID: 17940252

5

Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation.

Yang YJ, Baltus AE, Mathew RS, Murphy EA, Evrony GD, Gonzalez DM, Wang EP, Marshall-Walker CA, Barry BJ, Murn J, Tatarakis A, Mahajan MA, Samuels HH, Shi Y, Golden JA, Mahajnah M, Shenhav R, Walsh CA. Yang YJ, et al. Among authors: mahajnah m. Cell. 2012 Nov 21;151(5):1097-112. doi: 10.1016/j.cell.2012.10.043. Cell. 2012. PMID: 23178126 Free PMC article.

6

A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab-Israeli family.

Abu-Rashid M, Mahajnah M, Jaber L, Kornreich L, Bar-On E, Basel-Vanagaite L, Soffer D, Koenig M, Straussberg R. Abu-Rashid M, et al. Among authors: mahajnah m. Eur J Paediatr Neurol. 2013 May;17(3):259-64. doi: 10.1016/j.ejpn.2012.10.012. Epub 2013 Jan 16. Eur J Paediatr Neurol. 2013. PMID: 23332420

7

Multiplex families with epilepsy: Success of clinical and molecular genetic characterization.

Afawi Z, Oliver KL, Kivity S, Mazarib A, Blatt I, Neufeld MY, Helbig KL, Goldberg-Stern H, Misk AJ, Straussberg R, Walid S, Mahajnah M, Lerman-Sagie T, Ben-Zeev B, Kahana E, Masalha R, Kramer U, Ekstein D, Shorer Z, Wallace RH, Mangelsdorf M, MacPherson JN, Carvill GL, Mefford HC, Jackson GD, Scheffer IE, Bahlo M, Gecz J, Heron SE, Corbett M, Mulley JC, Dibbens LM, Korczyn AD, Berkovic SF. Afawi Z, et al. Among authors: mahajnah m. Neurology. 2016 Feb 23;86(8):713-22. doi: 10.1212/WNL.0000000000002404. Epub 2016 Jan 22. Neurology. 2016. PMID: 26802095 Free PMC article.

8

A new case confirming and expanding the phenotype spectrum of ADAT3-related intellectual disability syndrome.

Sharkia R, Zalan A, Jabareen-Masri A, Zahalka H, Mahajnah M. Sharkia R, et al. Among authors: mahajnah m. Eur J Med Genet. 2019 Nov;62(11):103549. doi: 10.1016/j.ejmg.2018.10.001. Epub 2018 Oct 6. Eur J Med Genet. 2019. PMID: 30296593

9

Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine.

Kurolap A, Armbruster A, Hershkovitz T, Hauf K, Mory A, Paperna T, Hannappel E, Tal G, Nijem Y, Sella E, Mahajnah M, Ilivitzki A, Hershkovitz D, Ekhilevitch N, Mandel H, Eulenburg V, Baris HN. Kurolap A, et al. Among authors: mahajnah m. Am J Hum Genet. 2016 Nov 3;99(5):1172-1180. doi: 10.1016/j.ajhg.2016.09.004. Epub 2016 Oct 20. Am J Hum Genet. 2016. PMID: 27773429 Free PMC article.

10

A novel variant of the human mitochondrial DnaJ protein, Tid1, associates with a human disease exhibiting developmental delay and polyneuropathy.

Patra M, Weiss C, Abu-Libdeh B, Ashhab M, Abuzer S, Elpeleg O, Mahajnah M, Kessel A, Azem A. Patra M, et al. Among authors: mahajnah m. Eur J Hum Genet. 2019 Jul;27(7):1072-1080. doi: 10.1038/s41431-019-0358-9. Epub 2019 Feb 15. Eur J Hum Genet. 2019. PMID: 30770860 Free PMC article.

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