Rachel Straussberg

2025

Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series

Zhu, G., Didry-Barca, B., Seabra, L., Rice, G. I., Uggenti, C., Touimy, M., Rodero, M. P., Trapero, R. H., Bondet, V., Duffy, D., Gautier, P., Livingstone, K., Sutherland, F. J. H., Lebon, P., Parisot, M., Bole-Feysot, C., Masson, C., Cagnard, N., Nitschké, P. & Anderson, G. & 30 others, Assmann, B., Barth, M., Boespflug-Tanguy, O., D'Arco, F., Dorboz, I., Giese, T., Hacohen, Y., Hancarova, M., Husson, M., Lepine, A., Lim, M., Mancardi, M. M., Melki, I., Neubauer, D., Sa, M., Sedlacek, Z., Seitz, A., Rottman, M. S., Sanquer, S., Straussberg, R., Vlčková, M., Villéga, F., Wagner, M., Zerem, A., Marsh, J. A., Frémond, M. L., Kaliakatsos, M., Crow, Y. J., El-Daher, M. T. & Lepelley, A., Mar 2025, In: The Lancet Neurology. 24, 3, p. 218-229 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Scopus citations

2024

Neurologic complications of thiamine (B1) deficiency following bariatric surgery in adolescents

Cohen Vig, L., Straussberg, R., Ziv, N., Hirschfeld-Dicker, L., Konen, O. & Aharoni, S., May 2024, In: European Journal of Paediatric Neurology. 50, p. 74-80 7 p.

Research output: Contribution to journal › Article › peer-review

2023

BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

Engel, C., Valence, S., Delplancq, G., Maroofian, R., Accogli, A., Agolini, E., Alkuraya, F. S., Baglioni, V., Bagnasco, I., Becmeur-Lefebvre, M., Bertini, E., Borggraefe, I., Brischoux-Boucher, E., Bruel, A. L., Brusco, A., Bubshait, D. K., Cabrol, C., Cilio, M. R., Cornet, M. C. & Coubes, C. & 70 others, Danhaive, O., Delague, V., Denommé-Pichon, A. S., Di Giacomo, M. C., Doco-Fenzy, M., Engels, H., Cremer, K., Gérard, M., Gleeson, J. G., Heron, D., Goffeney, J., Guimier, A., Harms, F. L., Houlden, H., Iacomino, M., Kaiyrzhanov, R., Kamien, B., Karimiani, E. G., Kraus, D., Kuentz, P., Kutsche, K., Lederer, D., Massingham, L., Mignot, C., Morris-Rosendahl, D., Nagarajan, L., Odent, S., Ormières, C., Partlow, J. N., Pasquier, L., Penney, L., Philippe, C., Piccolo, G., Poulton, C., Putoux, A., Rio, M., Rougeot, C., Salpietro, V., Scheffer, I., Schneider, A., Srivastava, S., Straussberg, R., Striano, P., Valente, E. M., Venot, P., Villard, L., Vitobello, A., Wagner, J., Wagner, M., Zaki, M. S., Zara, F., Lesca, G., Yassaee, V. R., Miryounesi, M., Hashemi-Gorji, F., Beiraghi, M., Ashrafzadeh, F., Galehdari, H., Walsh, C., Novelli, A., Tacke, M., Sadykova, D., Maidyrov, Y., Koneev, K., Shashkin, C., Capra, V., Zamani, M., Van Maldergem, L., Burglen, L. & Piard, J., Sep 2023, In: European Journal of Human Genetics. 31, 9, p. 1023-1031 9 p.

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

2022

Clinical improvement of a toddler with COVID-19 focal cerebral arteriopathy possibly due to intra-arterial nimodipine

Avital, D., Peretz, S., Perlow, E., Konen, O., Inbar, E., Bulkowstein, Y., Nahum, E., Aharoni, S., Vig, L. C., Nevo, Y., Auriel, E. & Straussberg, R., Sep 2022, In: European Journal of Paediatric Neurology. 40, p. 40-43 4 p.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Scopus citations

Infant Botulism, Israel, 2007–2021

Goldberg, B., Danino, D., Levinsky, Y., Levy, I., Straussberg, R., Dabaja-Younis, H., Guri, A., Almagor, Y., Tasher, D., Elad, D., Baider, Z., Blum, S. & Scheuerman, O., Feb 2022, In: Emerging Infectious Diseases. 29, 2, p. 235-241 7 p.

Research output: Contribution to journal › Article › peer-review

Open Access

14 Scopus citations

Rheumatic fever in a developed country – is it still relevant? A retrospective, 25 years follow-up

Tal, R., Saied, M. H., Zidani, R., Levinsky, Y., Straussberg, R., Amir, J., Amarilyo, G. & Harel, L., Dec 2022, In: Pediatric Rheumatology. 20, 1, 20.

Research output: Contribution to journal › Article › peer-review

Open Access

10 Scopus citations

The phenotype of homozygous EMC10 variant: A new syndrome with intellectual disability and language impairment

Haddad-Eid, E., Gur, N., Eid, S., Pilowsky-Peleg, T. & Straussberg, R., Mar 2022, In: European Journal of Paediatric Neurology. 37, p. 56-61 6 p.

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

2021

A new mechanism in thra resistance: the first disease-associated variant leading to an increased inhibitory function of thra2

Paisdzior, S., Knierim, E., Kleinau, G., Biebermann, H., Krude, H., Straussberg, R. & Schuelke, M., 2 May 2021, In: International Journal of Molecular Sciences. 22, 10, 5338.

Research output: Contribution to journal › Article › peer-review

Open Access

14 Scopus citations

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

Shao, D. D., Straussberg, R., Ahmed, H., Khan, A., Tian, S., Hill, R. S., Smith, R. S., Majmundar, A. J., Ameziane, N., Neil, J. E., Yang, E., Al Tenaiji, A., Jamuar, S. S., Schlaeger, T. M., Al-Saffar, M., Hovel, I., Al-Shamsi, A., Basel-Salmon, L., Amir, A. Z. & Rento, L. M. & 13 others, Lim, J. Y., Ganesan, I., Shril, S., Evrony, G., Barkovich, A. J., Bauer, P., Hildebrandt, F., Dong, M., Borck, G., Beetz, C., Al-Gazali, L., Eyaid, W. & Walsh, C. A., Jun 2021, In: Genetics in Medicine. 23, 6, p. 1158-1162 5 p.

Research output: Contribution to journal › Article › peer-review

Open Access

16 Scopus citations

Association of pediatric idiopathic intracranial hypertension with olfactory performance

Muhlbauer Avni, M., Yosha-Orpaz, N., Konen, O., Goldenberg-Cohen, N. & Straussberg, R., Jan 2021, In: European Journal of Paediatric Neurology. 30, p. 162-169 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Scopus citations

Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations

Hausman-Kedem, M., Ben-Sira, L., Kidron, D., Ben-Shachar, S., Straussberg, R., Marom, D., Ponger, P., Bar-Shira, A., Malinger, G. & Fattal-Valevski, A., Nov 2021, In: European Journal of Human Genetics. 29, 11, p. 1654-1662 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

13 Scopus citations

The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc

Ambrozkiewicz, M. C., Borisova, E., Schwark, M., Ripamonti, S., Schaub, T., Smorodchenko, A., Weber, A. I., Rhee, H. J., Altas, B., Yilmaz, R., Mueller, S., Piepkorn, L., Horan, S. T., Straussberg, R., Zaqout, S., Jahn, O., Dere, E., Rosário, M., Boehm-Sturm, P. & Borck, G. & 4 others, Willig, K. I., Rhee, J. S., Tarabykin, V. & Kawabe, H., Jun 2021, In: Molecular Psychiatry. 26, 6, p. 1980-1995 16 p.

Research output: Contribution to journal › Article › peer-review

Open Access

18 Scopus citations

2020

A new homozygous HERC1 gain-of-function variant in MDFPMR syndrome leads to mTORC1 hyperactivation and reduced autophagy during cell catabolism

Schwarz, J. M., Pedrazza, L., Stenzel, W., Rosa, J. L., Schuelke, M. & Straussberg, R., 1 Sep 2020, In: Molecular Genetics and Metabolism. 131, 1-2, p. 126-134 9 p.

Research output: Contribution to journal › Article › peer-review

9 Scopus citations

Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures

Tan, T. Y., Sedmík, J., Fitzgerald, M. P., Halevy, R. S., Keegan, L. P., Helbig, I., Basel-Salmon, L., Cohen, L., Straussberg, R., Chung, W. K., Helal, M., Maroofian, R., Houlden, H., Juusola, J., Sadedin, S., Pais, L., Howell, K. B., White, S. M., Christodoulou, J. & O'Connell, M. A., 2 Apr 2020, In: American Journal of Human Genetics. 106, 4, p. 467-483 17 p.

Research output: Contribution to journal › Article › peer-review

Open Access

33 Scopus citations

Evolution of EEG Findings in Pontocerebellar Hypoplasia Type 2A: Normal EEG in the First Few Months followed by Abnormal Tracing over the Years

Cohen, R., Goldberg-Stern, H., Kivity, S., Halevy, A., Aharoni, S., Kornreich, L. & Straussberg, R., 1 Dec 2020, In: Neuropediatrics. 51, 6, p. 440-444 5 p.

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing

UCLA Clinical Genomics Center, 3 Sep 2020, In: American Journal of Human Genetics. 107, 3, p. 544-554 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

13 Scopus citations

2019

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, O. S., 1 Nov 2019, In: European Journal of Human Genetics. 27, 11, p. 1668-1676 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

29 Scopus citations

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

Corbett, M. A., Kroes, T., Veneziano, L., Bennett, M. F., Florian, R., Schneider, A. L., 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, A. F. & 49 others, 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, K. L., 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, J. W., Afawi, Z., Helbig, I., Ishiura, H., Tsuji, S., Sisodiya, S. M., Casari, G., Sadleir, L. G., van Coller, R., Tijssen, M. A. J., Klein, K. M., van den Maagdenberg, A. M. J. M., Zara, F., Guerrini, R., Berkovic, S. F., Pippucci, T., Canafoglia, L., Bahlo, M., Striano, P., Scheffer, I. E., Brancati, F., Depienne, C. & Gecz, J., 1 Dec 2019, In: Nature Communications. 10, 1, 4920.

Research output: Contribution to journal › Article › peer-review

Open Access

99 Scopus citations

2018

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., May 2018, In: European Journal of Paediatric Neurology. 22, 3, p. 516-524 9 p.

Research output: Contribution to journal › Article › peer-review

28 Scopus citations

Clinical, biomarker, and molecular delineations and genotype-Phenotype correlations of ataxia with oculomotor apraxia type 1

Renaud, M., Moreira, M. C., Monga, B. B., Rodriguez, D., Debs, R., Charles, P., Chaouch, M., Ferrat, F., Laurencin, C., Vercueil, L., Mallaret, M., M’Zahem, A., Pacha, L. A., Tazir, M., Tilikete, C., Ollagnon, E., Ochsner, F., Kuntzer, T., Jung, H. H. & Beis, J. M. & 23 others, Netter, J. C., Djamshidian, A., Bower, M., Bottani, A., Walsh, R., Murphy, S., Reiley, T., Bieth, É., Roelens, F., Poll-The, B. T., Lourenço, C. M., Jardim, L. B., Straussberg, R., Landrieu, P., Roze, E., Thobois, S., Pouget, J., Guissart, C., Goizet, C., Dürr, A., Tranchant, C., Koenig, M. & Anheim, M., Apr 2018, In: JAMA Neurology. 75, 4, p. 495-502 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

30 Scopus citations

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

Ganelin Cohen, E., Bessler, H., Djaldetti, M. & Straussberg, R., 1 Mar 2018, In: NeuroImmunoModulation. 24, 4-5, p. 276-281 6 p.

Research output: Contribution to journal › Article › peer-review

Successful Intravenous Immunoglobulin Treatment in Pediatric Severe DRESS Syndrome

Marcus, N., Smuel, K., Almog, M., Prais, D., Straussberg, R., Landau, D. & Scheuerman, O., 1 Jul 2018, In: Journal of Allergy and Clinical Immunology: In Practice. 6, 4, p. 1238-1242 5 p.

Research output: Contribution to journal › Article › peer-review

40 Scopus citations

2017

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., 1 Dec 2017, In: Metabolic Brain Disease. 32, 6, p. 2131-2137 7 p.

Research output: Contribution to journal › Article › peer-review

14 Scopus citations

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

Zehavi, Y., Mandel, H., Zehavi, A., Rashid, M. A., Straussberg, R., Jabur, B., Shaag, A., Elpeleg, O. & Spiegel, R., 1 Jun 2017, In: European Journal of Medical Genetics. 60, 6, p. 317-320 4 p.

Research output: Contribution to journal › Article › peer-review

30 Scopus citations

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

Lee, J. Y. W., Hsu, C. K., Michael, M., Nanda, A., Liu, L., McMillan, J. R., Pourreyron, C., Takeichi, T., Tolar, J., Reid, E., Hayday, T., Blumen, S. C., Abu-Mouch, S., Straussberg, R., Basel-Vanagaite, L., Barhum, Y., Zouabi, Y., Al-Ajmi, H., Huang, H. Y. & Lin, T. C. & 6 others, Akiyama, M., Lee, J. Y. Y., McLean, W. H. I., Simpson, M. A., Parsons, M. & McGrath, J. A., 2 Feb 2017, In: American Journal of Human Genetics. 100, 2, p. 364-370 7 p.

Research output: Contribution to journal › Article › peer-review

Open Access

33 Scopus citations

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

Oliver, K. L., Franceschetti, S., Milligan, C. J., Muona, M., Mandelstam, S. A., Canafoglia, L., Boguszewska-Chachulska, A. M., Korczyn, A. D., Bisulli, F., Di Bonaventura, C., Ragona, F., Michelucci, R., Ben-Zeev, B., Straussberg, R., Panzica, F., Massano, J., Friedman, D., Crespel, A., Engelsen, B. A. & Andermann, F. & 20 others, Andermann, E., Spodar, K., Lasek-Bal, A., Riguzzi, P., Pasini, E., Tinuper, P., Licchetta, L., Gardella, E., Lindenau, M., Wulf, A., Møller, R. S., Benninger, F., Afawi, Z., Rubboli, G., Reid, C. A., Maljevic, S., Lerche, H., Lehesjoki, A. E., Petrou, S. & Berkovic, S. F., May 2017, In: Annals of Neurology. 81, 5, p. 677-689 13 p.

Research output: Contribution to journal › Article › peer-review

Open Access

65 Scopus citations

Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45

Straussberg, R., Onoufriadis, A., Konen, O., Zouabi, Y., Cohen, L., Lee, J. Y. W., Hsu, C. K., Simpson, M. A. & McGrath, J. A., Nov 2017, In: American Journal of Medical Genetics, Part A. 173, 11, p. 3109-3113 5 p.

Research output: Contribution to journal › Article › peer-review

Open Access

13 Scopus citations

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., 1 Dec 2017, In: Neuropediatrics. 48, 6, p. 456-462 7 p.

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

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

Falik Zaccai, T. C., Savitzki, D., Zivony-Elboum, Y., Vilboux, T., Fitts, E. C., Shoval, Y., Kalfon, L., Samra, N., Keren, Z., Gross, B., Chasnyk, N., Straussberg, R., Mullikin, J. C., Teer, J. K., Geiger, D., Kornitzer, D., Bitterman-Deutsch, O., Samson, A. O., Wakamiya, M. & Peterson, J. W. & 7 others, Kirtley, M. L., Pinchuk, I. V., Baze, W. B., Gahl, W. A., Kleta, R., Anikster, Y. & Chopra, A. K., Feb 2017, In: Brain. 140, 2, p. 370-386 17 p.

Research output: Contribution to journal › Article › peer-review

Open Access

17 Scopus citations

2016

Acute Cerebellitis in Children

Kornreich, L., Shkalim-Zemer, V., Levinsky, Y., Abdallah, W., Ganelin-Cohen, E. & Straussberg, R., 1 Jul 2016, In: Journal of Child Neurology. 31, 8, p. 991-997 7 p.

Research output: Contribution to journal › Article › peer-review

31 Scopus citations

Multiplex families with epilepsy: Success of clinical and molecular genetic characterization

Afawi, Z., Oliver, K. L., Kivity, S., Mazarib, A., Blatt, I., Neufeld, M. Y., Helbig, K. L., Goldberg-Stern, H., Misk, A. J., Straussberg, R., Walid, S., Mahajnah, M., Lerman-Sagie, T., Ben-Zeev, B., Kahana, E., Masalha, R., Kramer, U., Ekstein, D., Shorer, Z. & Wallace, R. H. & 14 others, Mangelsdorf, M., MacPherson, J. N., Carvill, G. L., Mefford, H. C., Jackson, G. D., Scheffer, I. E., Bahlo, M., Gecz, J., Heron, S. E., Corbett, M., Mulley, J. C., Dibbens, L. M., Korczyn, A. D. & Berkovic, S. F., 23 Feb 2016, In: Neurology. 86, 8, p. 713-722 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

23 Scopus citations

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

Aharoni, S., Barwick, K. E. S., Straussberg, R., Harlalka, G. V., Nevo, Y., Chioza, B. A., McEntagart, M. M., Mimouni-Bloch, A., Weedon, M. & Crosby, A. H., 16 Nov 2016, In: BMC Medical Genetics. 17, 1, 82.

Research output: Contribution to journal › Article › peer-review

Open Access

18 Scopus citations

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

Mirzaa, G., Timms, A. E., Conti, V., Boyle, E. A., Girisha, K. M., Martin, B., Kircher, M., Olds, C., Juusola, J., Collins, S., Park, K., Carter, M., Glass, I., Krägeloh-Mann, I., Chitayat, D., Parikh, A. S., Bradshaw, R., Torti, E., Braddock, S. & Burke, L. & 40 others, Ghedia, S., Stephan, M., Stewart, F., Prasad, C., Napier, M., Saitta, S., Straussberg, R., Gabbett, M., O’Connor, B. C., Keegan, C. E., Yin, L. J., Meeng Lai, A. H., Martin, N., McKinnon, M., Addor, M. C., Boccuto, L., Schwartz, C. E., Lanoel, A., Conway, R. L., Devriendt, K., Tatton-Brown, K., Pierpont, M. E., Painter, M., Worgan, L., Reggin, J., Hennekam, R., Tsuchiya, K., Pritchard, C. C., Aracena, M., Gripp, K. W., Cordisco, M., van Esch, H., Garavelli, L., Curry, C., Goriely, A., Kayserilli, H., Shendure, J., Graham, J., Guerrini, R. & Dobyns, W. B., 16 Jun 2016, In: JCI insight. 1, 9, e87623.

Research output: Contribution to journal › Article › peer-review

Open Access

144 Scopus citations

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., 1 Oct 2016, In: Neurogenetics. 17, 4, p. 251-257 7 p.

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

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

Chang, G. W., Hsiao, C. C., Peng, Y. M., Vieira Braga, F. A., Kragten, N. A. M., Remmerswaal, E. B. M., van de Garde, M. D. B., Straussberg, R., König, G. M., Kostenis, E., Knäuper, V., Meyaard, L., van Lier, R. A. W., van Gisbergen, K. P. J. M., Lin, H. H. & Hamann, J., 24 May 2016, In: Cell Reports. 15, 8, p. 1757-1770 14 p.

Research output: Contribution to journal › Article › peer-review

Open Access

81 Scopus citations

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, L. A. & Birk, O. S., 12 Aug 2016, In: BMC Medical Genetics. 17, 1, 57.

Research output: Contribution to journal › Article › peer-review

Open Access

13 Scopus citations

2015

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, S. A., Lev, D., Lerman-Sagie, T. & Leshinsky-Silver, E., 26 Mar 2015, In: Journal of Child Neurology. 30, 4, p. 490-495 6 p.

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Muona, M., Berkovic, S. F., Dibbens, L. M., Oliver, K. L., Maljevic, S., Bayly, M. A., Joensuu, T., Canafoglia, L., Franceschetti, S., Michelucci, R., Markkinen, S., Heron, S. E., Hildebrand, M. S., Andermann, E., Andermann, F., Gambardella, A., Tinuper, P., Licchetta, L., Scheffer, I. E. & Criscuolo, C. & 31 others, Filla, A., Ferlazzo, E., Ahmad, J., Ahmad, A., Baykan, B., Said, E., Topcu, M., Riguzzi, P., King, M. D., Ozkara, C., Andrade, D. M., Engelsen, B. A., Crespel, A., Lindenau, M., Lohmann, E., Saletti, V., Massano, J., Privitera, M., Espay, A. J., Kauffmann, B., Duchowny, M., Møller, R. S., Straussberg, R., Afawi, Z., Ben-Zeev, B., Samocha, K. E., Daly, M. J., Petrou, S., Lerche, H., Palotie, A. & Lehesjoki, A. E., 1 Jan 2015, In: Nature Genetics. 47, 1, p. 39-46 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

243 Scopus citations

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

Crow, Y. J., Chase, D. S., Lowenstein Schmidt, J., Szynkiewicz, M., Forte, G. M. A., Gornall, H. L., Oojageer, A., Anderson, B., Pizzino, A., Helman, G., Abdel-Hamid, M. S., Abdel-Salam, G. M., Ackroyd, S., Aeby, A., Agosta, G., Albin, C., Allon-Shalev, S., Arellano, M., Ariaudo, G. & Aswani, V. & 116 others, Babul-Hirji, R., Baildam, E. M., Bahi-Buisson, N., Bailey, K. M., Barnerias, C., Barth, M., Battini, R., Beresford, M. W., Bernard, G., Bianchi, M., Billette de Villemeur, T., Blair, E. M., Bloom, M., Burlina, A. B., Luisa Carpanelli, M., Carvalho, D. R., Castro-Gago, M., Cavallini, A., Cereda, C., Chandler, K. E., Chitayat, D. A., Collins, A. E., Sierra Corcoles, C., Cordeiro, N. J. V., Crichiutti, G., Dabydeen, L., Dale, R. C., Darrigo, S., De Goede, C. G. E. L., De Laet, C., De Waele, L. M. H., Denzler, I., Desguerre, I., Devriendt, K., Di Rocco, M., Fahey, M. C., Fazzi, E., Ferrie, C. D., Figueiredo, A., Gener, B., Goizet, C., Gowrinathan, N. R., Gowrishankar, K., Hanrahan, D., Isidor, B., Kara, B., Khan, N., King, M. D., Kirk, E. P., Kumar, R., Lagae, L., Landrieu, P., Lauffer, H., Laugel, V., Piana, R. L., Lim, M. J., Lin, J. P. S. M., Linnankivi, T., Mackay, M. T., Marom, D. R., Marques Lourenço, C., Mckee, S. A., Moroni, I., Morton, J. E. V., Moutard, M. L., Murray, K., Nabbout, R., Nampoothiri, S., Nunez-Enamorado, N., Oades, P. J., Olivieri, I., Ostergaard, J. R., Pérez-Dueñas, B., Prendiville, J. S., Ramesh, V., Rasmussen, M., Régal, L., Ricci, F., Rio, M., Rodriguez, D., Roubertie, A., Salvatici, E., Segers, K. A., Sinha, G. P., Soler, D., Spiegel, R., Stödberg, T. I., Straussberg, R., Swoboda, K. J., Suri, M., Tacke, U., Tan, T. Y., te Water Naude, J., Wee Teik, K., Mary Thomas, M., Till, M., Tonduti, D., Maria Valente, E., Noel Van Coster, R., van der Knaap, M. S., Vassallo, G., Vijzelaar, R., Vogt, J., Wallace, G. B., Wassmer, E., Webb, H. J., Whitehouse, W. P., Whitney, R. N., Zaki, M. S., Zuberi, S. M., Livingston, J. H., Rozenberg, F., Lebon, P., Vanderver, A., Orcesi, S. & Rice, G. I., 1 Feb 2015, In: American Journal of Medical Genetics, Part A. 167, 2, p. 296-312 17 p.

Research output: Contribution to journal › Article › peer-review

Open Access

487 Scopus citations

Homozygous MED25 mutation implicated in eye–intellectual disability syndrome

Basel-Vanagaite, L., Smirin-Yosef, P., Essakow, J. L., 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. & 1 others, Behar, D. M., 1 Jun 2015, In: Human Genetics. 134, 6, p. 577-587 11 p.

Research output: Contribution to journal › Article › peer-review

19 Scopus citations

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, D. M., Smirin-Yosef, P., Salmon-Divon, M. & Basel-Vanagaite, L., 1 Mar 2015, In: European Journal of Paediatric Neurology. 19, 2, p. 240-242 3 p.

Research output: Contribution to journal › Article › peer-review

29 Scopus citations

2014

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. & 2 others, Matsumoto, N. & Saitsu, H., Jul 2014, In: Epilepsia. 55, 7, p. 994-1000 7 p.

Research output: Contribution to journal › Article › peer-review

120 Scopus citations

Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia

Halevy, A., Lerer, I., Cohen, R., Kornreich, L., Shuper, A., Gamliel, M., Zimerman, B. E., Korabi, I., Meiner, V., Straussberg, R. & Lossos, A., Nov 2014, In: Journal of Neurology. 261, 11, p. 2165-2169 5 p.

Research output: Contribution to journal › Article › peer-review

34 Scopus citations

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, D. M. & Straussberg, R., 1 Nov 2014, In: European Journal of Paediatric Neurology. 18, 6, p. 801-805 5 p.

Research output: Contribution to journal › Article › peer-review

26 Scopus citations

2013

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., May 2013, In: European Journal of Paediatric Neurology. 17, 3, p. 259-264 6 p.

Research output: Contribution to journal › Article › peer-review

12 Scopus citations

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., 3 Jan 2013, In: Blood. 121, 1, p. 129-135 7 p.

Research output: Contribution to journal › Article › peer-review

Open Access

114 Scopus citations

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., Dec 2013, In: Pediatric Neurology. 49, 6, p. 411-416.e1

Research output: Contribution to journal › Article › peer-review

29 Scopus citations

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

Kodera, H., Kato, M., Nord, A. S., 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. & 7 others, Tsurusaki, Y., Nakashima, M., Miyake, N., Hayasaka, K., King, M. C., Matsumoto, N. & Saitsu, H., Jul 2013, In: Epilepsia. 54, 7, p. 1262-1269 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

68 Scopus citations

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., 24 Jul 2013, In: PLoS ONE. 8, 7, e69296.

Research output: Contribution to journal › Article › peer-review

Open Access

10 Scopus citations

2012

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., Oct 2012, In: Journal of Child Neurology. 27, 10, p. 1260-1263 4 p.

Research output: Contribution to journal › Article › peer-review

9 Scopus citations

Rachel Straussberg

Research output

Search results