Shorer Z - Search Results

1

PRRT2 mutations: exploring the phenotypical boundaries.

Djémié T, Weckhuysen S, Holmgren P, Hardies K, Van Dyck T, Hendrickx R, Schoonjans AS, Van Paesschen W, Jansen AC, De Meirleir L, Selim LA, Girgis MY, Buyse G, Lagae L, Smets K, Smouts I, Claeys KG, Van den Bergh V, Grisar T, Blatt I, Shorer Z, Roelens F, Afawi Z, Helbig I, Ceulemans B, De Jonghe P, Suls A. Djémié T, et al. Among authors: shorer z. J Neurol Neurosurg Psychiatry. 2014 Apr;85(4):462-5. doi: 10.1136/jnnp-2013-305122. Epub 2013 Oct 7. J Neurol Neurosurg Psychiatry. 2014. PMID: 24101679

2

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: shorer z. Neurology. 2016 Feb 23;86(8):713-22. doi: 10.1212/WNL.0000000000002404. Epub 2016 Jan 22. Neurology. 2016. PMID: 26802095 Free PMC article.

3

Epidemiological characteristics of febrile seizures--comparing between Bedouin and Jews in the southern part of Israel.

Shimony A, Afawi Z, Asher T, Mahajnah M, Shorer Z. Shimony A, et al. Among authors: shorer z. Seizure. 2009 Jan;18(1):26-9. doi: 10.1016/j.seizure.2008.05.011. Epub 2008 Jul 1. Seizure. 2009. PMID: 18595744 Free article.

4

Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case.

Warner LE, Shohat M, Shorer Z, Lupski JR. Warner LE, et al. Among authors: shorer z. Hum Mutat. 1997;10(1):21-4. doi: 10.1002/(SICI)1098-1004(1997)10:1<21::AID-HUMU3>3.0.CO;2-P. Hum Mutat. 1997. PMID: 9222756

5

Familial infantile bilateral striatal necrosis: clinical features and response to biotin treatment.

Straussberg R, Shorer Z, Weitz R, Basel L, Kornreich L, Corie CI, Harel L, Djaldetti R, Amir J. Straussberg R, et al. Among authors: shorer z. Neurology. 2002 Oct 8;59(7):983-9. doi: 10.1212/wnl.59.7.983. Neurology. 2002. PMID: 12374138

6

Infantile bilateral striatal necrosis maps to chromosome 19q.

Basel-Vanagaite L, Straussberg R, Ovadia H, Kaplan A, Magal N, Shorer Z, Shalev H, Walsh C, Shohat M. Basel-Vanagaite L, et al. Among authors: shorer z. Neurology. 2004 Jan 13;62(1):87-90. doi: 10.1212/01.wnl.0000101680.49036.69. Neurology. 2004. PMID: 14718703

7

Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations.

Cox JJ, Sheynin J, Shorer Z, Reimann F, Nicholas AK, Zubovic L, Baralle M, Wraige E, Manor E, Levy J, Woods CG, Parvari R. Cox JJ, et al. Among authors: shorer z. Hum Mutat. 2010 Sep;31(9):E1670-86. doi: 10.1002/humu.21325. Hum Mutat. 2010. PMID: 20635406 Free PMC article.

8

RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3.

Perez Y, Menascu S, Cohen I, Kadir R, Basha O, Shorer Z, Romi H, Meiri G, Rabinski T, Ofir R, Yeger-Lotem E, Birk OS. Perez Y, et al. Among authors: shorer z. Brain. 2018 Apr 1;141(4):961-970. doi: 10.1093/brain/awy045. Brain. 2018. PMID: 29522154

9

Outcome of infants with unilateral Sturge-Weber syndrome and early onset seizures.

Kramer U, Kahana E, Shorer Z, Ben-Zeev B. Kramer U, et al. Among authors: shorer z. Dev Med Child Neurol. 2000 Nov;42(11):756-9. doi: 10.1017/s0012162200001407. Dev Med Child Neurol. 2000. PMID: 11104348 Free article.

10

Severe refractory status epilepticus owing to presumed encephalitis.

Kramer U, Shorer Z, Ben-Zeev B, Lerman-Sagie T, Goldberg-Stern H, Lahat E. Kramer U, et al. Among authors: shorer z. J Child Neurol. 2005 Mar;20(3):184-7. doi: 10.1177/08830738050200030301. J Child Neurol. 2005. PMID: 15832606

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