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Items: 1 to 50 of 147

1.

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Corbett MA, Kroes T, Veneziano L, Bennett MF, Florian R, Schneider AL, Coppola A, Licchetta L, Franceschetti S, Suppa A, Wenger A, Mei D, Pendziwiat M, Kaya S, Delledonne M, Straussberg R, Xumerle L, Regan B, Crompton D, van Rootselaar AF, Correll A, Catford R, Bisulli F, Chakraborty S, Baldassari S, Tinuper P, Barton K, Carswell S, Smith M, Berardelli A, Carroll R, Gardner A, Friend KL, Blatt I, Iacomino M, Di Bonaventura C, Striano S, Buratti J, Keren B, Nava C, Forlani S, Rudolf G, Hirsch E, Leguern E, Labauge P, Balestrini S, Sander JW, Afawi Z, Helbig I, Ishiura H, Tsuji S, Sisodiya SM, Casari G, Sadleir LG, van Coller R, Tijssen MAJ, Klein KM, van den Maagdenberg AMJM, Zara F, Guerrini R, Berkovic SF, Pippucci T, Canafoglia L, Bahlo M, Striano P, Scheffer IE, Brancati F, Depienne C, Gecz J.

Nat Commun. 2019 Oct 29;10(1):4920. doi: 10.1038/s41467-019-12671-y.

2.

DEGS1 variant causes neurological disorder.

Dolgin V, Straussberg R, Xu R, Mileva I, Yogev Y, Khoury R, Konen O, Barhum Y, Zvulunov A, Mao C, Birk OS.

Eur J Hum Genet. 2019 Nov;27(11):1668-1676. doi: 10.1038/s41431-019-0444-z. Epub 2019 Jun 11.

PMID:
31186544
3.

A Rare Presentation of Postpump Hemichorea.

Gavish R, Straussberg R.

Isr Med Assoc J. 2019 Apr;21(4):286-287. No abstract available.

4.

Cytokine Production by Mononuclear Cells from Patients with Familial Infantile Bilateral Striatal Necrosis.

Ganelin Cohen E, Bessler H, Djaldetti M, Straussberg R.

Neuroimmunomodulation. 2017;24(4-5):276-281. doi: 10.1159/000486861. Epub 2018 Mar 6.

PMID:
29510394
5.

A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder.

Orenstein N, Goldberg-Stern H, Straussberg R, Bazak L, Weisz Hubshman M, Kropach N, Gilad O, Scheuerman O, Dory Y, Kraus D, Tzur S, Magal N, Kilim Y, Shkalim Zemer V, Basel-Salmon L.

Eur J Paediatr Neurol. 2018 May;22(3):516-524. doi: 10.1016/j.ejpn.2017.12.017. Epub 2017 Dec 30.

PMID:
29422393
6.

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.

Renaud M, Moreira MC, Ben Monga B, Rodriguez D, Debs R, Charles P, Chaouch M, Ferrat F, Laurencin C, Vercueil L, Mallaret M, M'Zahem A, Pacha LA, Tazir M, Tilikete C, Ollagnon E, Ochsner F, Kuntzer T, Jung HH, Beis JM, Netter JC, Djamshidian A, Bower M, Bottani A, Walsh R, Murphy S, Reiley T, Bieth É, Roelens F, Poll-The BT, Lourenço CM, Jardim LB, Straussberg R, Landrieu P, Roze E, Thobois S, Pouget J, Guissart C, Goizet C, Dürr A, Tranchant C, Koenig M, Anheim M.

JAMA Neurol. 2018 Apr 1;75(4):495-502. doi: 10.1001/jamaneurol.2017.4373.

7.

Successful Intravenous Immunoglobulin Treatment in Pediatric Severe DRESS Syndrome.

Marcus N, Smuel K, Almog M, Prais D, Straussberg R, Landau D, Scheuerman O.

J Allergy Clin Immunol Pract. 2018 Jul - Aug;6(4):1238-1242. doi: 10.1016/j.jaip.2017.10.016. Epub 2017 Dec 1.

PMID:
29198698
8.

A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels.

Zehavi Y, von Renesse A, Daniel-Spiegel E, Sapir Y, Zalman L, Chervinsky I, Schuelke M, Straussberg R, Spiegel R.

Metab Brain Dis. 2017 Dec;32(6):2131-2137. doi: 10.1007/s11011-017-0109-y. Epub 2017 Sep 13.

PMID:
28900819
9.

Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45.

Straussberg R, Onoufriadis A, Konen O, Zouabi Y, Cohen L, Lee JYW, Hsu CK, Simpson MA, McGrath JA.

Am J Med Genet A. 2017 Nov;173(11):3109-3113. doi: 10.1002/ajmg.a.38414. Epub 2017 Sep 8.

PMID:
28884889
10.

Novel RRM2B Mutation and Severe Mitochondrial DNA Depletion: Report of 2 Cases and Review of the Literature.

Kropach N, Shkalim-Zemer V, Orenstein N, Scheuerman O, Straussberg R.

Neuropediatrics. 2017 Dec;48(6):456-462. doi: 10.1055/s-0037-1601867. Epub 2017 May 8. Review.

PMID:
28482374
11.

De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.

Zehavi Y, Mandel H, Zehavi A, Rashid MA, Straussberg R, Jabur B, Shaag A, Elpeleg O, Spiegel R.

Eur J Med Genet. 2017 Jun;60(6):317-320. doi: 10.1016/j.ejmg.2017.04.001. Epub 2017 Apr 5.

PMID:
28389307
12.

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.

Oliver KL, Franceschetti S, Milligan CJ, Muona M, Mandelstam SA, Canafoglia L, Boguszewska-Chachulska AM, Korczyn AD, Bisulli F, Di Bonaventura C, Ragona F, Michelucci R, Ben-Zeev B, Straussberg R, Panzica F, Massano J, Friedman D, Crespel A, Engelsen BA, Andermann F, Andermann E, Spodar K, Lasek-Bal A, Riguzzi P, Pasini E, Tinuper P, Licchetta L, Gardella E, Lindenau M, Wulf A, Møller RS, Benninger F, Afawi Z, Rubboli G, Reid CA, Maljevic S, Lerche H, Lehesjoki AE, Petrou S, Berkovic SF.

Ann Neurol. 2017 May;81(5):677-689. doi: 10.1002/ana.24929.

PMID:
28380698
13.

Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.

Lee JYW, Hsu CK, Michael M, Nanda A, Liu L, McMillan JR, Pourreyron C, Takeichi T, Tolar J, Reid E, Hayday T, Blumen SC, Abu-Mouch S, Straussberg R, Basel-Vanagaite L, Barhum Y, Zouabi Y, Al-Ajmi H, Huang HY, Lin TC, Akiyama M, Lee JYY, McLean WHI, Simpson MA, Parsons M, McGrath JA.

Am J Hum Genet. 2017 Feb 2;100(2):364-370. doi: 10.1016/j.ajhg.2017.01.014.

14.

Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy.

Falik Zaccai TC, Savitzki D, Zivony-Elboum Y, Vilboux T, Fitts EC, Shoval Y, Kalfon L, Samra N, Keren Z, Gross B, Chasnyk N, Straussberg R, Mullikin JC, Teer JK, Geiger D, Kornitzer D, Bitterman-Deutsch O, Samson AO, Wakamiya M, Peterson JW, Kirtley ML, Pinchuk IV, Baze WB, Gahl WA, Kleta R, Anikster Y, Chopra AK.

Brain. 2017 Feb;140(2):370-386. doi: 10.1093/brain/aww295. Epub 2016 Dec 21.

15.

Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.

Aharoni S, Barwick KE, Straussberg R, Harlalka GV, Nevo Y, Chioza BA, McEntagart MM, Mimouni-Bloch A, Weedon M, Crosby AH.

BMC Med Genet. 2016 Nov 16;17(1):82.

16.

Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A.

Cohen R, Halevy A, Aharoni S, Kraus D, Konen O, Basel-Vanagaite L, Goldberg-Stern H, Straussberg R.

Neurogenetics. 2016 Oct;17(4):251-257. Epub 2016 Sep 8.

PMID:
27631729
17.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.

Mirzaa G, Timms AE, Conti V, Boyle EA, Girisha KM, Martin B, Kircher M, Olds C, Juusola J, Collins S, Park K, Carter M, Glass I, Krägeloh-Mann I, Chitayat D, Parikh AS, Bradshaw R, Torti E, Braddock S, Burke L, Ghedia S, Stephan M, Stewart F, Prasad C, Napier M, Saitta S, Straussberg R, Gabbett M, O'Connor BC, Keegan CE, Yin LJ, Lai AHM, Martin N, McKinnon M, Addor MC, Boccuto L, Schwartz CE, Lanoel A, Conway RL, Devriendt K, Tatton-Brown K, Pierpont ME, Painter M, Worgan L, Reggin J, Hennekam R, Tsuchiya K, Pritchard CC, Aracena M, Gripp KW, Cordisco M, Van Esch H, Garavelli L, Curry C, Goriely A, Kayserilli H, Shendure J, Graham J Jr, Guerrini R, Dobyns WB.

JCI Insight. 2016 Jun 16;1(9). pii: 87623. doi: 10.1172/jci.insight.87623.

18.

Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture.

Feinstein-Linial M, Buvoli M, Buvoli A, Sadeh M, Dabby R, Straussberg R, Shelef I, Dayan D, Leinwand LA, Birk OS.

BMC Med Genet. 2016 Aug 12;17(1):57. doi: 10.1186/s12881-016-0315-1.

19.

Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects.

Straussberg R, Schottmann G, Sadeh M, Gill E, Seifert F, Halevy A, Qassem K, Rendu J, van der Ven PF, Stenzel W, Schuelke M.

Acta Neuropathol. 2016 Sep;132(3):475-8. doi: 10.1007/s00401-016-1602-9. Epub 2016 Aug 2. No abstract available.

PMID:
27484770
20.

The Adhesion G Protein-Coupled Receptor GPR56/ADGRG1 Is an Inhibitory Receptor on Human NK Cells.

Chang GW, Hsiao CC, Peng YM, Vieira Braga FA, Kragten NA, Remmerswaal EB, van de Garde MD, Straussberg R, König GM, Kostenis E, Knäuper V, Meyaard L, van Lier RA, van Gisbergen KP, Lin HH, Hamann J.

Cell Rep. 2016 May 24;15(8):1757-70. doi: 10.1016/j.celrep.2016.04.053. Epub 2016 May 12.

21.

Acute Cerebellitis in Children: A Many-Faceted Disease.

Kornreich L, Shkalim-Zemer V, Levinsky Y, Abdallah W, Ganelin-Cohen E, Straussberg R.

J Child Neurol. 2016 Jul;31(8):991-7. doi: 10.1177/0883073816634860. Epub 2016 Mar 9.

PMID:
26961264
22.

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.

23.

Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.

Basel-Vanagaite L, Smirin-Yosef P, Essakow JL, Tzur S, Lagovsky I, Maya I, Pasmanik-Chor M, Yeheskel A, Konen O, Orenstein N, Weisz Hubshman M, Drasinover V, Magal N, Peretz Amit G, Zalzstein Y, Zeharia A, Shohat M, Straussberg R, Monté D, Salmon-Divon M, Behar DM.

Hum Genet. 2015 Jun;134(6):577-87. doi: 10.1007/s00439-015-1541-x. Epub 2015 Mar 20.

PMID:
25792360
24.

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Rodriguez D, Roubertie A, Salvatici E, Segers KA, Sinha GP, Soler D, Spiegel R, Stödberg TI, Straussberg R, Swoboda KJ, Suri M, Tacke U, Tan TY, te Water Naude J, Wee Teik K, Thomas MM, Till M, Tonduti D, Valente EM, Van Coster RN, van der Knaap MS, Vassallo G, Vijzelaar R, Vogt J, Wallace GB, Wassmer E, Webb HJ, Whitehouse WP, Whitney RN, Zaki MS, Zuberi SM, Livingston JH, Rozenberg F, Lebon P, Vanderver A, Orcesi S, Rice GI.

Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16.

25.

Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation.

Straussberg R, Ganelin-Cohen E, Goldberg-Stern H, Tzur S, Behar DM, Smirin-Yosef P, Salmon-Divon M, Basel-Vanagaite L.

Eur J Paediatr Neurol. 2015 Mar;19(2):240-2. doi: 10.1016/j.ejpn.2014.11.004. Epub 2014 Nov 29.

PMID:
25500575
26.

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, Joensuu T, Canafoglia L, Franceschetti S, Michelucci R, Markkinen S, Heron SE, Hildebrand MS, Andermann E, Andermann F, Gambardella A, Tinuper P, Licchetta L, Scheffer IE, Criscuolo C, Filla A, Ferlazzo E, Ahmad J, Ahmad A, Baykan B, Said E, Topcu M, Riguzzi P, King MD, Ozkara C, Andrade DM, Engelsen BA, Crespel A, Lindenau M, Lohmann E, Saletti V, Massano J, Privitera M, Espay AJ, Kauffmann B, Duchowny M, Møller RS, Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H, Palotie A, Lehesjoki AE.

Nat Genet. 2015 Jan;47(1):39-46. doi: 10.1038/ng.3144. Epub 2014 Nov 17.

27.

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
28.

Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.

Halevy A, Lerer I, Cohen R, Kornreich L, Shuper A, Gamliel M, Zimerman BE, Korabi I, Meiner V, Straussberg R, Lossos A.

J Neurol. 2014 Nov;261(11):2165-9. doi: 10.1007/s00415-014-7457-x. Epub 2014 Aug 23.

PMID:
25149867
29.

Two siblings with early infantile myoclonic encephalopathy due to mutation in the gene encoding mitochondrial glutamate/H+ symporter SLC25A22.

Cohen R, Basel-Vanagaite L, Goldberg-Stern H, Halevy A, Shuper A, Feingold-Zadok M, Behar DM, Straussberg R.

Eur J Paediatr Neurol. 2014 Nov;18(6):801-5. doi: 10.1016/j.ejpn.2014.06.007. Epub 2014 Jul 5.

PMID:
25033742
30.

Early onset epileptic encephalopathy caused by de novo SCN8A mutations.

Ohba C, Kato M, Takahashi S, Lerman-Sagie T, Lev D, Terashima H, Kubota M, Kawawaki H, Matsufuji M, Kojima Y, Tateno A, Goldberg-Stern H, Straussberg R, Marom D, Leshinsky-Silver E, Nakashima M, Nishiyama K, Tsurusaki Y, Miyake N, Tanaka F, Matsumoto N, Saitsu H.

Epilepsia. 2014 Jul;55(7):994-1000. doi: 10.1111/epi.12668. Epub 2014 Jun 2.

31.

Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2.

Hellman-Aharony S, Smirin-Yosef P, Halevy A, Pasmanik-Chor M, Yeheskel A, Har-Zahav A, Maya I, Straussberg R, Dahary D, Haviv A, Shohat M, Basel-Vanagaite L.

Pediatr Neurol. 2013 Dec;49(6):411-416.e1. doi: 10.1016/j.pediatrneurol.2013.07.017. Epub 2013 Sep 29.

PMID:
24084144
32.

Variable myopathic presentation in a single family with novel skeletal RYR1 mutation.

Attali R, Aharoni S, Treves S, Rokach O, Becker Cohen M, Fellig Y, Straussberg R, Dor T, Daana M, Mitrani-Rosenbaum S, Nevo Y.

PLoS One. 2013 Jul 24;8(7):e69296. doi: 10.1371/journal.pone.0069296. Print 2013.

33.

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

Kodera H, Kato M, Nord AS, Walsh T, Lee M, Yamanaka G, Tohyama J, Nakamura K, Nakagawa E, Ikeda T, Ben-Zeev B, Lev D, Lerman-Sagie T, Straussberg R, Tanabe S, Ueda K, Amamoto M, Ohta S, Nonoda Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, King MC, Matsumoto N, Saitsu H.

Epilepsia. 2013 Jul;54(7):1262-9. doi: 10.1111/epi.12203. Epub 2013 May 10.

34.

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.

Eur J Paediatr Neurol. 2013 May;17(3):259-64. doi: 10.1016/j.ejpn.2012.10.012. Epub 2013 Jan 16.

PMID:
23332420
35.

CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy.

Nevo Y, Ben-Zeev B, Tabib A, Straussberg R, Anikster Y, Shorer Z, Fattal-Valevski A, Ta-Shma A, Aharoni S, Rabie M, Zenvirt S, Goldshmidt H, Fellig Y, Shaag A, Mevorach D, Elpeleg O.

Blood. 2013 Jan 3;121(1):129-35. doi: 10.1182/blood-2012-07-441857. Epub 2012 Nov 13.

PMID:
23149847
36.

Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12.

Halevy A, Basel-Vanagaite L, Shuper A, Helman S, Har-Zahav A, Birk E, Maya I, Kornreich L, Inbar D, Nürnberg G, Nürnberg P, Steinberg T, Straussberg R.

Pediatr Neurol. 2012 Jun;46(6):363-8. doi: 10.1016/j.pediatrneurol.2012.03.014.

PMID:
22633631
37.

Benign neonatal sleep myoclonus: an autosomal dominant form not allelic to KCNQ2 or KCNQ3.

Afawi Z, Bassan H, Heron S, Oliver K, Straussberg R, Scheffer I, Leventer R, Korczyn A, Berkovic S.

J Child Neurol. 2012 Oct;27(10):1260-3. Epub 2012 Mar 23.

PMID:
22447848
38.

Dysferlinopathy and very-long-chain acyl coenzyme A dehydrogenase deficiency segregating in the same family.

Aharoni S, Sadeh M, Silver EL, Straussberg R.

Isr Med Assoc J. 2011 Oct;13(10):632-4. No abstract available.

PMID:
22097235
39.

Schilder's disease: non-invasive diagnosis and successful treatment with human immunoglobulins.

Kraus D, Konen O, Straussberg R.

Eur J Paediatr Neurol. 2012 Mar;16(2):206-8. doi: 10.1016/j.ejpn.2011.07.010. Epub 2011 Sep 16.

PMID:
21925910
40.

X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome?

Marom D, Albin A, Schwartz C, Har-Zahav A, Straussberg R, Bartel F, Birk E, Inbar D, Basel-Vanagaite L.

Am J Med Genet A. 2011 Aug;155A(8):1959-63. doi: 10.1002/ajmg.a.34121. Epub 2011 Jul 8.

PMID:
21744492
41.

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

Maydan G, Noyman I, Har-Zahav A, Neriah ZB, Pasmanik-Chor M, Yeheskel A, Albin-Kaplanski A, Maya I, Magal N, Birk E, Simon AJ, Halevy A, Rechavi G, Shohat M, Straussberg R, Basel-Vanagaite L.

J Med Genet. 2011 Jun;48(6):383-9. doi: 10.1136/jmg.2010.087114. Epub 2011 Apr 14.

PMID:
21493957
42.

Three sibs with microcephaly, clubfeet and agenesis of corpus callosum: a new genetic syndrome?

Shkalim V, Ben-Sira L, Inbar D, Kaadan W, Basel-Vanagaite L, Straussberg R.

Am J Med Genet A. 2011 May;155A(5):1060-5. doi: 10.1002/ajmg.a.33978. Epub 2011 Apr 4.

PMID:
21465661
43.

Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.

Kaufmann R, Straussberg R, Mandel H, Fattal-Valevski A, Ben-Zeev B, Naamati A, Shaag A, Zenvirt S, Konen O, Mimouni-Bloch A, Dobyns WB, Edvardson S, Pines O, Elpeleg O.

Am J Hum Genet. 2010 Nov 12;87(5):667-70. doi: 10.1016/j.ajhg.2010.09.016. Epub 2010 Oct 14.

44.

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.

Am J Hum Genet. 2009 Dec;85(6):897-902. doi: 10.1016/j.ajhg.2009.10.027.

45.

Late infantile neuronal ceroid lipofuscinosis: a new mutation in Arabs.

Goldberg-Stern H, Halevi A, Marom D, Straussberg R, Mimouni-Bloch A.

Pediatr Neurol. 2009 Oct;41(4):297-300. doi: 10.1016/j.pediatrneurol.2009.04.022.

PMID:
19748052
46.

Acute cerebellitis presenting as tonsillar herniation and hydrocephalus.

Shkalim V, Amir J, Kornreich L, Scheuerman O, Straussberg R.

Pediatr Neurol. 2009 Sep;41(3):200-3. doi: 10.1016/j.pediatrneurol.2009.04.024.

PMID:
19664537
47.

Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?

Sijben AE, Sithinamsuwan P, Radhakrishnan A, Badawy RA, Dibbens L, Mazarib A, Lev D, Lerman-Sagie T, Straussberg R, Berkovic SF, Scheffer IE.

Epilepsia. 2009 Apr;50(4):953-6. doi: 10.1111/j.1528-1167.2009.02023.x. Epub 2009 Mar 9.

48.

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.

Bassuk AG, Wallace RH, Buhr A, Buller AR, Afawi Z, Shimojo M, Miyata S, Chen S, Gonzalez-Alegre P, Griesbach HL, Wu S, Nashelsky M, Vladar EK, Antic D, Ferguson PJ, Cirak S, Voit T, Scott MP, Axelrod JD, Gurnett C, Daoud AS, Kivity S, Neufeld MY, Mazarib A, Straussberg R, Walid S, Korczyn AD, Slusarski DC, Berkovic SF, El-Shanti HI.

Am J Hum Genet. 2008 Nov;83(5):572-81. doi: 10.1016/j.ajhg.2008.10.003. Epub 2008 Oct 30.

49.

A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function.

Lasry I, Berman B, Straussberg R, Sofer Y, Bessler H, Sharkia M, Glaser F, Jansen G, Drori S, Assaraf YG.

Blood. 2008 Sep 1;112(5):2055-61. doi: 10.1182/blood-2008-04-150276. Epub 2008 Jun 17.

PMID:
18559978
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