Blumkin L - Search Results

1

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.

Rice GI, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, Barrea C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley AE, Blumkin L, Boespflug-Tanguy O, Briggs TA, Brimble E, Dale RC, Darin N, Debray FG, De Giorgis V, Denecke J, Doummar D, Drake Af Hagelsrum G, Eleftheriou D, Estienne M, Fazzi E, Feillet F, Galli J, Hartog N, Harvengt J, Heron B, Heron D, Kelly DA, Lev D, Levrat V, Livingston JH, Marti I, Mignot C, Mochel F, Nougues MC, Oppermann I, Pérez-Dueñas B, Popp B, Rodero MP, Rodriguez D, Saletti V, Sharpe C, Tonduti D, Vadlamani G, Van Haren K, Tomas Vila M, Vogt J, Wassmer E, Wiedemann A, Wilson CJ, Zerem A, Zweier C, Zuberi SM, Orcesi S, Vanderver AL, Hur S, Crow YJ. Rice GI, et al. Among authors: blumkin l. Hum Mutat. 2020 Apr;41(4):837-849. doi: 10.1002/humu.23975. Epub 2020 Jan 14. Hum Mutat. 2020. PMID: 31898846 Free PMC article.

2

Nonprogressive familial leukoencephalopathy with porencephalic cyst and focal seizures.

Blumkin L, Watemberg N, Lev D, Malinger G, Luckman Y, Ben-Zeev B, Lerman-Sagie T. Blumkin L, et al. J Child Neurol. 2006 Feb;21(2):145-8. doi: 10.1177/08830738060210021701. J Child Neurol. 2006. PMID: 16566879

3

Hypomyelinating leukoencephalopathy with paroxysmal tonic upgaze and absence of psychomotor development.

Blumkin L, Lev D, Watemberg N, Lerman-Sagie T. Blumkin L, et al. Mov Disord. 2007 Jan 15;22(2):226-30. doi: 10.1002/mds.21277. Mov Disord. 2007. PMID: 17149740

4

Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration--a late onset variant of PCH-1?

Lev D, Michelson-Kerman M, Vinkler C, Blumkin L, Shalev SA, Lerman-Sagie T. Lev D, et al. Among authors: blumkin l. Eur J Paediatr Neurol. 2008 Mar;12(2):97-101. doi: 10.1016/j.ejpn.2007.06.005. Epub 2007 Jul 30. Eur J Paediatr Neurol. 2008. PMID: 17681808

5

Familial leukoencephalopathy with slowly progressive dystonia and ataxia.

Blumkin L, Mandel H, Anca-Herschkovitsch M, Kivity S, Lev D, Lerman-Sagie T. Blumkin L, et al. Eur J Paediatr Neurol. 2009 Nov;13(6):530-3. doi: 10.1016/j.ejpn.2008.11.004. Epub 2008 Dec 13. Eur J Paediatr Neurol. 2009. PMID: 19071044

6

Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation.

Blumkin L, Michelson M, Leshinsky-Silver E, Kivity S, Lev D, Lerman-Sagie T. Blumkin L, et al. J Child Neurol. 2010 Jul;25(7):892-7. doi: 10.1177/0883073809351316. Epub 2010 Jan 21. J Child Neurol. 2010. PMID: 20097664

7

Hepatic coma culminating in severe brain damage in a child with a SCN1A mutation.

Nishri D, Blumkin L, Lev D, Leshinsky-Silver E, Abu-Rashid M, Birch R, Zuberi SM, Lerman-Sagie T. Nishri D, et al. Among authors: blumkin l. Eur J Paediatr Neurol. 2010 Sep;14(5):456-9. doi: 10.1016/j.ejpn.2010.03.002. Epub 2010 Apr 13. Eur J Paediatr Neurol. 2010. PMID: 20392657

8

A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.

Blumkin L, Lerman-Sagie T, Lev D, Yosovich K, Leshinsky-Silver E. Blumkin L, et al. J Neurol Sci. 2011 Jun 15;305(1-2):67-70. doi: 10.1016/j.jns.2011.03.011. Epub 2011 Mar 25. J Neurol Sci. 2011. PMID: 21440262

9

Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation.

Blumkin L, Suls A, Deconinck T, De Jonghe P, Linder I, Kivity S, Dabby R, Leshinsky-Silver E, Lev D, Lerman-Sagie T. Blumkin L, et al. Eur J Paediatr Neurol. 2012 Jul;16(4):356-60. doi: 10.1016/j.ejpn.2011.11.004. Epub 2011 Dec 14. Eur J Paediatr Neurol. 2012. PMID: 22169383

10

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47).

Bauer P, Leshinsky-Silver E, Blumkin L, Schlipf N, Schröder C, Schicks J, Lev D, Riess O, Lerman-Sagie T, Schöls L. Bauer P, et al. Among authors: blumkin l. Neurogenetics. 2012 Feb;13(1):73-6. doi: 10.1007/s10048-012-0314-0. Neurogenetics. 2012. PMID: 22290197

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