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Items: 1 to 50 of 258

1.

Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic.

Hamanaka K, Miyatake S, Zerem A, Lev D, Blumkin L, Yokochi K, Fujita A, Imagawa E, Iwama K, Nakashima M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Saitsu H, van der Knaap MS, Lerman-Sagie T, Matsumoto N.

J Hum Genet. 2018 Sep 27. doi: 10.1038/s10038-018-0516-x. [Epub ahead of print]

PMID:
30258207
2.

The cerebellar "tilted telephone receiver sign" enables prenatal diagnosis of PHACES syndrome.

Leibovitz Z, Guibaud L, Garel C, Massoud M, Karl K, Malinger G, Haratz KK, Gindes L, Tamarkin M, Ben-Sira L, Lev D, Shalev J, Brasseur-Daudruy M, Contreras Gutierrez de Piñeres CA, Lerman-Sagie T.

Eur J Paediatr Neurol. 2018 Sep 1. pii: S1090-3798(18)30372-6. doi: 10.1016/j.ejpn.2018.08.006. [Epub ahead of print]

PMID:
30209013
3.

Fetal pericallosal lipomas - Clues to diagnosis in the second trimester.

Shinar S, Lerman-Sagie T, Telleria ME, Viñals F, García R, Quiroga H, Bermejo C, Ben-Sira L, Leibovitz Z, Har-Toov J, Malinger G.

Eur J Paediatr Neurol. 2018 Aug 2. pii: S1090-3798(18)30249-6. doi: 10.1016/j.ejpn.2018.07.011. [Epub ahead of print]

PMID:
30104143
4.

Progressive cerebello-cerebral atrophy and progressive encephalopathy with edema, hypsarrhythmia and optic atrophy may be allelic syndromes.

Hady-Cohen R, Ben-Pazi H, Adir V, Yosovich K, Blumkin L, Lerman-Sagie T, Lev D.

Eur J Paediatr Neurol. 2018 Jul 26. pii: S1090-3798(18)30093-X. doi: 10.1016/j.ejpn.2018.07.003. [Epub ahead of print]

PMID:
30100179
5.

Ultrasound Nomograms of the Fetal Optic Nerve Sheath Diameter.

Haratz KK, Melcer Y, Leibovitz Z, Feit H, Lerman-Sagie T, Lev D, Ginath S, Gindes L, Moron AF, Malinger G.

Ultraschall Med. 2018 Jul 4. doi: 10.1055/a-0643-0490. [Epub ahead of print] No abstract available.

PMID:
29972845
6.

Diagnostic approach to fetal microcephaly.

Leibovitz Z, Lerman-Sagie T.

Eur J Paediatr Neurol. 2018 Jun 30. pii: S1090-3798(18)30014-X. doi: 10.1016/j.ejpn.2018.06.002. [Epub ahead of print] Review.

PMID:
29970280
7.

Fetal cerebellar disorders.

Lerman-Sagie T, Prayer D, Stöcklein S, Malinger G.

Handb Clin Neurol. 2018;155:3-23. doi: 10.1016/B978-0-444-64189-2.00001-9. Review.

PMID:
29891067
8.

Ultrasound Nomograms of the Fetal Optic Nerve Sheath Diameter.

Haratz KK, Melcer Y, Leibovitz Z, Feit H, Lerman-Sagie T, Lev D, Ginath S, Gindes L, Moron AF, Malinger G.

Ultraschall Med. 2018 Jun 7. doi: 10.1055/a-0594-2053. [Epub ahead of print]

PMID:
29879744
9.

Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus.

Sagie S, Lerman-Sagie T, Maljevic S, Yosovich K, Detert K, Chung SK, Rees MI, Lerche H, Lev D.

Brain. 2018 Jul 1;141(7):e55. doi: 10.1093/brain/awy129. No abstract available.

PMID:
29846532
10.

Multiple Causes of Pediatric Early Onset Chorea-Clinical and Genetic Approach.

Blumkin L, Lerman-Sagie T, Westenberger A, Ben-Pazi H, Zerem A, Yosovich K, Lev D.

Neuropediatrics. 2018 Aug;49(4):246-255. doi: 10.1055/s-0038-1645884. Epub 2018 May 25.

PMID:
29801190
11.

Medical Cannabis for Pediatric Moderate to Severe Complex Motor Disorders.

Libzon S, Schleider LB, Saban N, Levit L, Tamari Y, Linder I, Lerman-Sagie T, Blumkin L.

J Child Neurol. 2018 Aug;33(9):565-571. doi: 10.1177/0883073818773028. Epub 2018 May 16.

PMID:
29766748
12.

De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy.

Nakashima M, Kato M, Aoto K, Shiina M, Belal H, Mukaida S, Kumada S, Sato A, Zerem A, Lerman-Sagie T, Lev D, Leong HY, Tsurusaki Y, Mizuguchi T, Miyatake S, Miyake N, Ogata K, Saitsu H, Matsumoto N.

Ann Neurol. 2018 Apr;83(4):794-806. doi: 10.1002/ana.25208.

PMID:
29534297
13.

The fourth ventricle index - a sonographic marker for severe fetal vermian dysgenesis / agenesis.

Haratz KK, Shulevitz SL, Leibovitz Z, Lev D, Josef S, Tomarkin M, Malinger G, Lerman-Sagie T, Gindes L.

Ultrasound Obstet Gynecol. 2018 Feb 26. doi: 10.1002/uog.19034. [Epub ahead of print]

PMID:
29484745
14.

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.

Fry AE, Fawcett KA, Zelnik N, Yuan H, Thompson BAN, Shemer-Meiri L, Cushion TD, Mugalaasi H, Sims D, Stoodley N, Chung SK, Rees MI, Patel CV, Brueton LA, Layet V, Giuliano F, Kerr MP, Banne E, Meiner V, Lerman-Sagie T, Helbig KL, Kofman LH, Knight KM, Chen W, Kannan V, Hu C, Kusumoto H, Zhang J, Swanger SA, Shaulsky GH, Mirzaa GM, Muir AM, Mefford HC, Dobyns WB, Mackenzie AB, Mullins JGL, Lemke JR, Bahi-Buisson N, Traynelis SF, Iago HF, Pilz DT.

Brain. 2018 Jan 22. doi: 10.1093/brain/awx358. [Epub ahead of print]

15.

Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation.

Leibovitz Z, Mandel H, Falik-Zaccai TC, Ben Harouch S, Savitzki D, Krajden-Haratz K, Gindes L, Tamarkin M, Lev D, Dobyns WB, Lerman-Sagie T.

Eur J Paediatr Neurol. 2018 May;22(3):525-531. doi: 10.1016/j.ejpn.2017.12.012. Epub 2017 Dec 26.

PMID:
29337005
16.

The use of fetal neurosonography and brain MRI in cases of cytomegalovirus infection during pregnancy: A retrospective analysis with outcome correlation.

Birnbaum R, Ben-Sira L, Lerman-Sagie T, Malinger G.

Prenat Diagn. 2017 Dec;37(13):1335-1342. doi: 10.1002/pd.5180.

PMID:
29119569
17.

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.

Niturad CE, Lev D, Kalscheuer VM, Charzewska A, Schubert J, Lerman-Sagie T, Kroes HY, Oegema R, Traverso M, Specchio N, Lassota M, Chelly J, Bennett-Back O, Carmi N, Koffler-Brill T, Iacomino M, Trivisano M, Capovilla G, Striano P, Nawara M, Rzonca S, Fischer U, Bienek M, Jensen C, Hu H, Thiele H, Altmüller J, Krause R, May P, Becker F; EuroEPINOMICS Consortium, Balling R, Biskup S, Haas SA, Nürnberg P, van Gassen KLI, Lerche H, Zara F, Maljevic S, Leshinsky-Silver E.

Brain. 2017 Nov 1;140(11):2879-2894. doi: 10.1093/brain/awx236.

PMID:
29053855
18.

Unique Imaging Features Enabling the Prenatal Diagnosis of Developmental Venous Anomalies: A Persistent Echogenic Brain Lesion Drained by a Collecting Vein in Contrast with Normal Brain Parenchyma on MRI.

Krajden Haratz K, Peled A, Weizman B, Gindes L, Tamarkin M, Lev D, Kidron D, Ben-Sira L, Malinger G, Lerman-Sagie T, Leibovitz Z.

Fetal Diagn Ther. 2018;43(1):53-60. doi: 10.1159/000464247. Epub 2017 Jun 17.

PMID:
28624828
19.

Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation.

Leshinsky-Silver E, Ling J, Wu J, Vinkler C, Yosovich K, Bahar S, Yanoov-Sharav M, Lerman-Sagie T, Lev D.

Neurogenetics. 2017 Jul;18(3):141-146. doi: 10.1007/s10048-017-0516-6. Epub 2017 Jun 15.

PMID:
28620870
20.

Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum.

Damiano JA, Burgess R, Kivity S, Lerman-Sagie T, Afawi Z, Scheffer IE, Berkovic SF, Hildebrand MS.

Epilepsia. 2017 Mar;58(3):e40-e43. doi: 10.1111/epi.13666. Epub 2017 Jan 18.

21.

Reply.

D'Antonio F, Khalil A, Garel C, Pilu G, Rizzo G, Lerman-Sagie T, Bhide A, Thilaganathan B, Manzoli L, Papageorghiou AT.

Ultrasound Obstet Gynecol. 2016 Dec;48(6):804-805. doi: 10.1002/uog.17314. No abstract available.

22.

Mortality in Dravet syndrome.

Cooper MS, Mcintosh A, Crompton DE, McMahon JM, Schneider A, Farrell K, Ganesan V, Gill D, Kivity S, Lerman-Sagie T, McLellan A, Pelekanos J, Ramesh V, Sadleir L, Wirrell E, Scheffer IE.

Epilepsy Res. 2016 Dec;128:43-47. doi: 10.1016/j.eplepsyres.2016.10.006. Epub 2016 Oct 26.

PMID:
27810515
23.

Familial Brain Periventricular Pseudocysts.

Shinar S, Malinger G, Leibovitz Z, Ben-Sira L, Leshinsky-Silver E, Gindes L, Lerman-Sagie T, Kidron D, Lev D.

Fetal Diagn Ther. 2017;42(1):42-47. doi: 10.1159/000448951. Epub 2016 Oct 7.

PMID:
27710969
24.

Malformations of Cortical Development: From Postnatal to Fetal Imaging.

Lerman-Sagie T, Leibovitz Z.

Can J Neurol Sci. 2016 Sep;43(5):611-8. doi: 10.1017/cjn.2016.271. Review.

PMID:
27670206
25.

The molecular and phenotypic spectrum of IQSEC2-related epilepsy.

Zerem A, Haginoya K, Lev D, Blumkin L, Kivity S, Linder I, Shoubridge C, Palmer EE, Field M, Boyle J, Chitayat D, Gaillard WD, Kossoff EH, Willems M, Geneviève D, Tran-Mau-Them F, Epstein O, Heyman E, Dugan S, Masurel-Paulet A, Piton A, Kleefstra T, Pfundt R, Sato R, Tzschach A, Matsumoto N, Saitsu H, Leshinsky-Silver E, Lerman-Sagie T.

Epilepsia. 2016 Nov;57(11):1858-1869. doi: 10.1111/epi.13560. Epub 2016 Sep 26.

26.

Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients.

Kuperberg M, Lev D, Blumkin L, Zerem A, Ginsberg M, Linder I, Carmi N, Kivity S, Lerman-Sagie T, Leshinsky-Silver E.

J Child Neurol. 2016 Dec;31(14):1534-1539. Epub 2016 Aug 29.

PMID:
27572814
27.

The 'Brain Shadowing Sign': A Novel Marker of Fetal Craniosynostosis.

Krajden Haratz K, Leibovitz Z, Svirsky R, Drummond CL, Lev D, Gindes L, Lerman-Sagie T, Malinger G.

Fetal Diagn Ther. 2016;40(4):277-284. Epub 2016 Apr 7.

PMID:
27049321
28.

RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia.

Nishri D, Goldberg-Stern H, Noyman I, Blumkin L, Kivity S, Saitsu H, Nakashima M, Matsumoto N, Leshinsky-Silver E, Lerman-Sagie T, Lev D.

Eur J Paediatr Neurol. 2016 May;20(3):412-7. doi: 10.1016/j.ejpn.2016.02.012. Epub 2016 Mar 2.

PMID:
26970947
29.

Application of a novel prenatal vertical cranial biometric measurement can improve accuracy of microcephaly diagnosis in utero.

Leibovitz Z, Shiran C, Haratz K, Tamarkin M, Gindes L, Schreiber L, Malinger G, Ben-Sira L, Lev D, Shapiro I, Bakry H, Weizman B, Zreik A, Kidron D, Egenburg S, Arad A, Lerman-Sagie T.

Ultrasound Obstet Gynecol. 2016 May;47(5):593-9. doi: 10.1002/uog.15886.

30.

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.

Neurology. 2016 Feb 23;86(8):713-22. doi: 10.1212/WNL.0000000000002404. Epub 2016 Jan 22.

31.

CBD-enriched medical cannabis for intractable pediatric epilepsy: The current Israeli experience.

Tzadok M, Uliel-Siboni S, Linder I, Kramer U, Epstein O, Menascu S, Nissenkorn A, Yosef OB, Hyman E, Granot D, Dor M, Lerman-Sagie T, Ben-Zeev B.

Seizure. 2016 Feb;35:41-4. doi: 10.1016/j.seizure.2016.01.004. Epub 2016 Jan 6.

32.

Agenesis of the corpus callosum. An autopsy study in fetuses.

Kidron D, Shapira D, Ben Sira L, Malinger G, Lev D, Cioca A, Sharony R, Lerman Sagie T.

Virchows Arch. 2016 Feb;468(2):219-30. doi: 10.1007/s00428-015-1872-y. Epub 2015 Nov 16.

PMID:
26573426
33.

Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.

Rips J, Almashanu S, Mandel H, Josephsberg S, Lerman-Sagie T, Zerem A, Podeh B, Anikster Y, Shaag A, Luder A, Staretz Chacham O, Spiegel R.

J Inherit Metab Dis. 2016 Mar;39(2):211-7. doi: 10.1007/s10545-015-9899-4. Epub 2015 Nov 13.

PMID:
26566957
34.

Prediction of microcephaly at birth using three reference ranges for fetal head circumference: can we improve prenatal diagnosis?

Leibovitz Z, Daniel-Spiegel E, Malinger G, Haratz K, Tamarkin M, Gindes L, Schreiber L, Ben-Sira L, Lev D, Shapiro I, Bakry H, Weizman B, Zreik A, Egenburg S, Arad A, Tepper R, Kidron D, Lerman-Sagie T.

Ultrasound Obstet Gynecol. 2016 May;47(5):586-92. doi: 10.1002/uog.15801.

35.

Systematic review and meta-analysis of isolated posterior fossa malformations on prenatal imaging (part 2): neurodevelopmental outcome.

D'Antonio F, Khalil A, Garel C, Pilu G, Rizzo G, Lerman-Sagie T, Bhide A, Thilaganathan B, Manzoli L, Papageorghiou AT.

Ultrasound Obstet Gynecol. 2016 Jul;48(1):28-37. doi: 10.1002/uog.15755. Review.

36.

Thick corpus callosum in the second trimester can be transient and is of uncertain significance.

Shinar S, Har-Toov J, Lerman-Sagie T, Malinger G.

Ultrasound Obstet Gynecol. 2016 Oct;48(4):452-457. doi: 10.1002/uog.15678. Epub 2016 Aug 30.

37.

Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep.

Carmi N, Lev D, Leshinsky-Silver E, Anikster Y, Blumkin L, Kivity S, Lerman-Sagie T, Zerem A.

Eur J Paediatr Neurol. 2015 Nov;19(6):733-6. doi: 10.1016/j.ejpn.2015.06.006. Epub 2015 Jul 9.

PMID:
26190011
38.

Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

Grinton BE, Heron SE, Pelekanos JT, Zuberi SM, Kivity S, Afawi Z, Williams TC, Casalaz DM, Yendle S, Linder I, Lev D, Lerman-Sagie T, Malone S, Bassan H, Goldberg-Stern H, Stanley T, Hayman M, Calvert S, Korczyn AD, Shevell M, Scheffer IE, Mulley JC, Berkovic SF.

Epilepsia. 2015 Jul;56(7):1071-80. doi: 10.1111/epi.13020. Epub 2015 May 15.

39.

Systematic review and meta-analysis of isolated posterior fossa malformations on prenatal ultrasound imaging (part 1): nomenclature, diagnostic accuracy and associated anomalies.

D'Antonio F, Khalil A, Garel C, Pilu G, Rizzo G, Lerman-Sagie T, Bhide A, Thilaganathan B, Manzoli L, Papageorghiou AT.

Ultrasound Obstet Gynecol. 2016 Jun;47(6):690-7. doi: 10.1002/uog.14900. Epub 2016 May 10. Review.

40.

Effect of cyclic, low dose pyrimethamine treatment in patients with Late Onset Tay Sachs: an open label, extended pilot study.

Osher E, Fattal-Valevski A, Sagie L, Urshanski N, Sagiv N, Peleg L, Lerman-Sagie T, Zimran A, Elstein D, Navon R, Valevski A, Stern N.

Orphanet J Rare Dis. 2015 Apr 17;10:45. doi: 10.1186/s13023-015-0260-7.

41.

Authors' reply re: neuropsychological follow-up at school age of children with asymmetric ventricles or unilateral ventriculomegaly identified in utero.

Lerman-Sagie T, Malinger G.

BJOG. 2015 May;122(6):882-3. doi: 10.1111/1471-0528.13308. No abstract available.

42.

GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.

Ohba C, Shiina M, Tohyama J, Haginoya K, Lerman-Sagie T, Okamoto N, Blumkin L, Lev D, Mukaida S, Nozaki F, Uematsu M, Onuma A, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Kato M, Ogata K, Saitsu H, Matsumoto N.

Epilepsia. 2015 Jun;56(6):841-8. doi: 10.1111/epi.12987. Epub 2015 Apr 10.

43.

Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorder.

Blumkin L, Bradshaw T, Michelson M, Kopler T, Dahari D, Lerman-Sagie T, Lev D, Chapple JP, Leshinsky-Silver E.

Eur J Paediatr Neurol. 2015 Jul;19(4):472-6. doi: 10.1016/j.ejpn.2015.02.005. Epub 2015 Mar 3.

PMID:
25819952
44.

The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome.

Sofer S, Schweiger A, Blumkin L, Yahalom G, Anikster Y, Lev D, Ben-Zeev B, Lerman-Sagie T, Hassin-Baer S.

Am J Med Genet B Neuropsychiatr Genet. 2015 Apr;168B(3):197-203. doi: 10.1002/ajmg.b.32296. Epub 2015 Feb 5.

PMID:
25657044
45.

Re: additional value of fetal magnetic resonance imaging in the prenatal diagnosis of central nervous system anomalies: a systematic review of the literature.

Malinger G, Lerman-Sagie T.

Ultrasound Obstet Gynecol. 2015 Feb;45(2):236-7. doi: 10.1002/uog.14740. No abstract available.

46.

The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-β precursor protein-dependent mechanism.

Vinograd-Byk H, Sapir T, Cantarero L, Lazo PA, Zeligson S, Lev D, Lerman-Sagie T, Renbaum P, Reiner O, Levy-Lahad E.

J Neurosci. 2015 Jan 21;35(3):936-42. doi: 10.1523/JNEUROSCI.1998-14.2015.

47.

Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A.

Blumkin L, Leshinsky-Silver E, Michelson M, Zerem A, Kivity S, Lev D, Lerman-Sagie T.

Eur J Paediatr Neurol. 2015 May;19(3):292-7. doi: 10.1016/j.ejpn.2014.12.018. Epub 2015 Jan 8.

PMID:
25596066
48.

A possible genotype-phenotype correlation in Ashkenazi-Jewish individuals with Aicardi-Goutières syndrome associated with SAMHD1 mutation.

Straussberg R, Marom D, Sanado-Inbar E, Lakovsky Y, Horev G, Shalev SA, Lev D, Lerman-Sagie T, Leshinsky-Silver E.

J Child Neurol. 2015 Mar;30(4):490-5. doi: 10.1177/0883073814549241. Epub 2014 Sep 22.

PMID:
25246298
49.

Costeff syndrome: clinical features and natural history.

Yahalom G, Anikster Y, Huna-Baron R, Hoffmann C, Blumkin L, Lev D, Tsabari R, Nitsan Z, Lerman SF, Ben-Zeev B, Pode-Shakked B, Sofer S, Schweiger A, Lerman-Sagie T, Hassin-Baer S.

J Neurol. 2014 Dec;261(12):2275-82. doi: 10.1007/s00415-014-7481-x. Epub 2014 Sep 9.

PMID:
25201222
50.

Neuropsychological follow-up at school age of children with asymmetric ventricles or unilateral ventriculomegaly identified in utero.

Atad-Rapoport M, Schweiger A, Lev D, Sadan-Strul S, Malinger G, Lerman-Sagie T.

BJOG. 2015 Jun;122(7):932-8. doi: 10.1111/1471-0528.12976. Epub 2014 Jul 16.

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