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Items: 1 to 50 of 272

1.

Infantile onset progressive cerebellar atrophy and anterior horn cell Degeneration-A novel phenotype associated with mutations in the PLA2G6 gene.

Gafner M, Michelson M, Yosovich K, Blumkin L, Lerman-Sagie T, Lev D.

Eur J Med Genet. 2019 Nov 2:103801. doi: 10.1016/j.ejmg.2019.103801. [Epub ahead of print]

PMID:
31689548
2.

Brain white matter abnormalities associated with copy number variants.

Vigdorovich N, Ben-Sira L, Blumkin L, Precel R, Nezer I, Yosovich K, Cross Z, Vanderver A, Lev D, Lerman-Sagie T, Zerem A.

Am J Med Genet A. 2020 Jan;182(1):93-103. doi: 10.1002/ajmg.a.61389. Epub 2019 Oct 17.

PMID:
31622028
3.

Building Bridges Between the Clinic and the Laboratory: A Meeting Review - Brain Malformations: A Roadmap for Future Research.

Sapir T, Barakat TS, Paredes MF, Lerman-Sagie T, Aronica E, Klonowski W, Nguyen L, Ben Zeev B, Bahi-Buisson N, Leventer R, Rachmian N, Reiner O.

Front Cell Neurosci. 2019 Sep 27;13:434. doi: 10.3389/fncel.2019.00434. eCollection 2019.

4.

Refractory epilepsy associated with ventriculoperitoneal shunt over-drainage: case report.

Gafner M, Lerman-Sagie T, Constantini S, Roth J.

Childs Nerv Syst. 2019 Dec;35(12):2411-2416. doi: 10.1007/s00381-019-04367-x. Epub 2019 Sep 6.

PMID:
31492981
5.

A clinical diagnostic algorithm for early onset cerebellar ataxia.

Brandsma R, Verschuuren-Bemelmans CC, Amrom D, Barisic N, Baxter P, Bertini E, Blumkin L, Brankovic-Sreckovic V, Brouwer OF, Bürk K, Catsman-Berrevoets CE, Craiu D, de Coo IFM, Gburek J, Kennedy C, de Koning TJ, Kremer HPH, Kumar R, Macaya A, Micalizzi A, Mirabelli-Badenier M, Nemeth A, Nuovo S, Poll-The B, Lerman-Sagie T, Steinlin M, Synofzik M, Tijssen MAJ, Vasco G, Willemsen MAAP, Zanni G, Valente EM, Boltshauser E, Sival DA.

Eur J Paediatr Neurol. 2019 Sep;23(5):692-706. doi: 10.1016/j.ejpn.2019.08.004. Epub 2019 Aug 10.

PMID:
31481303
6.

Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia.

Walker MA, Lerman-Sagie T, Swoboda K, Lev D, Blumkin L.

Am J Med Genet A. 2019 Aug;179(8):1575-1579. doi: 10.1002/ajmg.a.61196. Epub 2019 Jun 5.

PMID:
31168944
7.

Familial Intracranial Hypertension in 2 Brothers With PTEN Mutation: Expansion of the Phenotypic Spectrum.

Hady-Cohen R, Maharshak I, Michelson M, Yosovich K, Lev D, Constantini S, Leiba H, Lerman-Sagie T, Blumkin L.

J Child Neurol. 2019 Aug;34(9):506-510. doi: 10.1177/0883073819842970. Epub 2019 May 2.

PMID:
31046523
8.

Metabolic stroke in a patient with bi-allelic OPA1 mutations.

Zerem A, Yosovich K, Rappaport YC, Libzon S, Blumkin L, Ben-Sira L, Lev D, Lerman-Sagie T.

Metab Brain Dis. 2019 Aug;34(4):1043-1048. doi: 10.1007/s11011-019-00415-2. Epub 2019 Apr 10.

PMID:
30972688
9.

Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews.

Weisz-Hubshman M, Meirson H, Michaelson-Cohen R, Beeri R, Tzur S, Bormans C, Modai S, Shomron N, Shilon Y, Banne E, Orenstein N, Konen O, Marek-Yagel D, Veber A, Shalva N, Imagawa E, Matsumoto N, Lev D, Lerman Sagie T, Raas-Rothschild A, Ben-Zeev B, Basel-Salmon L, Behar DM, Heimer G.

Eur J Paediatr Neurol. 2019 May;23(3):418-426. doi: 10.1016/j.ejpn.2019.02.003. Epub 2019 Feb 19.

PMID:
30853297
10.

Fetal Neurology.

Malinger G, Lerman-Sagie T.

Eur J Paediatr Neurol. 2018 Nov;22(6):895-897. doi: 10.1016/j.ejpn.2018.11.004. No abstract available.

PMID:
30573222
11.

Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy.

Vegas N, Cavallin M, Maillard C, Boddaert N, Toulouse J, Schaefer E, Lerman-Sagie T, Lev D, Magalie B, Moutton S, Haan E, Isidor B, Heron D, Milh M, Rondeau S, Michot C, Valence S, Wagner S, Hully M, Mignot C, Masurel A, Datta A, Odent S, Nizon M, Lazaro L, Vincent M, Cogné B, Guerrot AM, Arpin S, Pedespan JM, Caubel I, Pontier B, Troude B, Rivier F, Philippe C, Bienvenu T, Spitz MA, Bery A, Bahi-Buisson N.

Neurol Genet. 2018 Nov 7;4(6):e281. doi: 10.1212/NXG.0000000000000281. eCollection 2018 Dec.

12.

Prenatal and postnatal presentation of PRMT7 related syndrome: Expanding the phenotypic manifestations.

Birnbaum R, Yosha-Orpaz N, Yanoov-Sharav M, Kidron D, Gur H, Yosovich K, Lerman-Sagie T, Malinger G, Lev D.

Am J Med Genet A. 2019 Jan;179(1):78-84. doi: 10.1002/ajmg.a.6. Epub 2018 Dec 4.

PMID:
30513135
13.

Prenatal diagnosis of brainstem anomalies.

Haratz KK, Lerman-Sagie T.

Eur J Paediatr Neurol. 2018 Nov;22(6):1016-1026. doi: 10.1016/j.ejpn.2018.06.011. Epub 2018 Jul 6. Review.

PMID:
30448280
14.

Lacosamide for SCN2A-related intractable neonatal and infantile seizures.

Flor-Hirsch H, Heyman E, Livneh A, Reish O, Watemberg N, Litmanovits I, Ben Sason Lilli A, Lev D, Lerman Sagie T, Bassan H.

Epileptic Disord. 2018 Oct 1;20(5):440-446. doi: 10.1684/epd.2018.1001.

15.

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 Dec;63(12):1223-1229. doi: 10.1038/s10038-018-0516-x. Epub 2018 Sep 27.

PMID:
30258207
16.

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 Nov;22(6):900-909. doi: 10.1016/j.ejpn.2018.08.006. Epub 2018 Sep 1.

PMID:
30209013
17.

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 Nov;22(6):929-934. doi: 10.1016/j.ejpn.2018.07.011. Epub 2018 Aug 2.

PMID:
30104143
18.

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 Nov;22(6):1133-1138. doi: 10.1016/j.ejpn.2018.07.003. Epub 2018 Jul 26.

PMID:
30100179
19.

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
20.

Diagnostic approach to fetal microcephaly.

Leibovitz Z, Lerman-Sagie T.

Eur J Paediatr Neurol. 2018 Nov;22(6):935-943. doi: 10.1016/j.ejpn.2018.06.002. Epub 2018 Jun 30. Review.

PMID:
29970280
21.

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
22.

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. 2019 Aug;40(4):476-480. doi: 10.1055/a-0594-2053. Epub 2018 Jun 7.

PMID:
29879744
23.

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
24.

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
25.

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
26.

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
27.

Fourth ventricle index: sonographic marker for severe fetal vermian dysgenesis/agenesis.

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

Ultrasound Obstet Gynecol. 2019 Mar;53(3):390-395. doi: 10.1002/uog.19034. Epub 2019 Jan 31.

PMID:
29484745
28.

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 Mar 1;141(3):698-712. doi: 10.1093/brain/awx358.

29.

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
30.

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
31.

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
32.

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
33.

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
34.

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.

35.

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.

36.

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
37.

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
38.

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
39.

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.

40.

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
41.

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
42.

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
43.

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.

44.

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.

45.

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.

46.

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
47.

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
48.

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.

49.

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.

50.

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.

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