Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Orly Elpeleg"'
Autor:
Yoav, Zehavi, Ann, Saada, Haneen, Jabaly-Habib, Moshe, Dessau, Avraham, Shaag, Orly, Elpeleg, Ronen, Spiegel
Publikováno v:
Metabolic brain disease. 36(4)
Isolated defects in the mitochondrial respiratory chain complex II (CII; succinate-ubiquinone oxidoreductase) are extremely rare and mainly result from bi-allelic mutations in one of the nuclear encoded subunits: SDHA, SDHB and SDHD, which comprise C
Autor:
Hidetaka Shiratori, Claudius Werner, Kavita Praveen, Stef J.F. Letteboer, Petra Pennekamp, Petras P. Dzeja, Katrin Junger, Inga M. Höben, Franziska Rabert, Friederike Stumme, Julia Wallmeier, Isabella Aprea, Zeev Perles, Erica E. Davis, Judith A. Klinkenbusch, Israel Amirav, Yasin Memari, Yayoi Ikawa, Niki T. Loges, Diana Bracht, Wang Kyaw Twan, Kerstin Bartscherer, Tabea Nöthe-Menchen, Micha Aviram, Yuan Ping Pang, Rim Hjeij, Johanna Raidt, Heike Olbrich, Huda Mussaffi, Katsutoshi Mizuno, Nicola Horn, Timo Strünker, Heymut Omran, Sandra Cindric, Asaf Ta-Shma, Gerard W. Dougherty, Katsuyoshi Takaoka, Marius Ueffing, Thomas Kaiser, Katsura Minegishi, Jörg Große-Onnebrink, Hiroshi Hamada, Jana Gützlaff, Bernd Dworniczak, Luisa Biebach, Samuel M. Young, Orly Elpeleg, Nicholas Katsanis, Karsten Boldt, Takahiro Ide, Ronald Roepman
Publikováno v:
Nature Communications, 11
Nature Communications, Vol 11, Iss 1, Pp 1-20 (2020)
Nature Communications
Nature Communications, 11, 1
Nature Communications, 11(1). Nature Publishing Group
Nature Communications, Vol 11, Iss 1, Pp 1-20 (2020)
Nature Communications
Nature Communications, 11, 1
Nature Communications, 11(1). Nature Publishing Group
Axonemal dynein ATPases direct ciliary and flagellar beating via adenosine triphosphate (ATP) hydrolysis. The modulatory effect of adenosine monophosphate (AMP) and adenosine diphosphate (ADP) on flagellar beating is not fully understood. Here, we de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d88a83337a6f0f647e8e4ba37a5d642
http://hdl.handle.net/2066/229376
http://hdl.handle.net/2066/229376
Autor:
Naomi Meeks, Stefan Kindler, Anya Revah-Politi, Alexander P.A. Stegmann, Vinodh Narayanan, Dominique Bonneau, Claudia Schob, Jill A. Rosenfeld, Jennifer E. Posey, Tim M. Strom, LaDonna Immken, Tjitske Kleefstra, Jolanda H. Schieving, Katherine L. Helbig, Estelle Colin, Magalie Barth, Tamar Harel, Matthew J. Huentelman, James R. Lupski, Benjamin Cogné, Han G. Brunner, Yaping Yang, Sébastien Küry, Jenny Morton, Erica H. Gerkes, Keri Ramsey, Marine Tessarech, Zeynep Coban-Akdemir, Shimon Edvardson, Hans-Jürgen Kreienkamp, Nelly Oundjian, Davor Lessel, Christian Kubisch, Thomas Besnard, Jonas Denecke, Orly Elpeleg, Ana M. Claasen, Kelsey Zegar, Mohammad K. Eldomery, Sandra Mercier, Margot R.F. Reijnders, Stéphane Bézieau
Publikováno v:
American Journal of Human Genetics, 101(5), 716-724. Cell Press
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102, pp.196
American Journal of Human Genetics, 101(5), 716-724. CELL PRESS
American Journal of Human Genetics, 101, 5, pp. 716-724
Am. J. Hum. Genet. 101, 716-724 (2017)
American Journal of Human Genetics, 101, 716-724
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102, pp.196
American Journal of Human Genetics, 101(5), 716-724. CELL PRESS
American Journal of Human Genetics, 101, 5, pp. 716-724
Am. J. Hum. Genet. 101, 716-724 (2017)
American Journal of Human Genetics, 101, 716-724
Contains fulltext : 182457.pdf (Publisher’s version ) (Open Access) DHX30 is a member of the family of DExH-box helicases, which use ATP hydrolysis to unwind RNA secondary structures. Here we identified six different de novo missense mutations in D
Autor:
William G. Newman, Ronen Spiegel, Jill E. Urquhart, Orly Elpeleg, Rajech Sharkia, Abdelnaser Zalan, Milit Marom-David, Muhammad Mahajnah, Simon G. Williams, Abdussalam Azem, Nathan Watemberg, Stavit A. Shalev, Sanjeev S. Bhaskar, Sarah B. Daly
Publikováno v:
American Journal of Medical Genetics Part A. 173:1051-1055
PTRH2 is an evolutionarily highly conserved mitochondrial protein that belongs to a family of peptidyl-tRNA hydrolases. Recently, patients from two consanguineous families with mutations in the PTRH2 gene were reported. Global developmental delay ass
Autor:
Klaus-Michael Debatin, Ingrid Furlan, Orly Elpeleg, Donald Bunjes, Meinrad Beer, Catharina Schuetz, Stephanie von Harsdorf, Batia Avni, Sigal Grisariu, Polina Stepensky, Bella Shadur, Ansgar Schulz, Irina Zaidman, Manfred Hoenig, Mehtap Sirin
Osteopetrosis (OP) is a rare disease caused by defective osteoclast differentiation or function. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment available in the infantile “malignant” form of OP. Improved clinical an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc4833fa953f1355081b779ead2182f1
https://europepmc.org/articles/PMC6436016/
https://europepmc.org/articles/PMC6436016/
Autor:
Yaping Yang, Sarah H. Elsea, Orly Elpeleg, Donna M. Muzny, Vinod Varghese, Hanoch Cassuto, Mohnish Suri, Sue Holder, AK Lampe, Weimin Bi, Wenmiao Zhu, Muriel Holder-Espinasse, Shane McKee, Christine M. Eng, Lihadh Al-Gazali, Vardiella Meiner, Aisha Al Shamsi, Kim L. McBride, Melissa Lees, June Anne Gold, Janet S. Soul, Soo Mi Park, Birgitta Bernhard, Sonal Mahida, Klaas J. Wierenga, Daryl A. Scott, Elizabeth Roeder, Kimberly Nugent, Vivienne McConnell, Jill M. Harris, Ed Blair, J. Lloyd Holder, Makanko Komara, Seema R. Lalani, Brett H. Graham, Andrea M. Lewis, Jill A. Rosenfeld, Ziva Ben-Neriah, Elizabeth A. Fanning, Richard A. Gibbs, Pengfei Liu, Lionel Van Maldergem, Fan Xia, Ludmila Matyakhina, James B. Gibson, Victoria Harrison, Julie Vogt, Francesco Vetrini, Rebecca O. Littlejohn, James R. Lupski, Ajith Kumar, Jennifer E. Posey, Margaret Marlatt, Joseph T. Alaimo, Matthew Pastore, Laurie H. Seaver, Lindsay C. Burrage
Publikováno v:
Genome Medicine
Genome Medicine, Vol 11, Iss 1, Pp 1-17 (2019)
Genome Medicine, Vol 11, Iss 1, Pp 1-17 (2019)
Background Neurodevelopmental disorders are genetically and phenotypically heterogeneous encompassing developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), structural brain abnormalities, and neurological manifesta
Autor:
Abdussalam Azem, Malay Patra, Orly Elpeleg, Bassam Abu-Libdeh, Motee Ashhab, Celeste Weiss, Shadi Abuzer, Muhammad Mahajnah, Amit Kessel
Publikováno v:
Eur J Hum Genet
Here, we describe a single patient from a consanguineous family, who suffers from developmental delay, intellectual disability, hypermetropia, moderate alternating esotropia, unsteady gait, and peripheral polyneuropathy. Brain MRI revealed basal gang
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::701d482b18dd91194f7f0d0033ea5d4c
https://europepmc.org/articles/PMC6777446/
https://europepmc.org/articles/PMC6777446/
Autor:
Andreea Nissenkorn, Dvora Nass, Yoram Nevo, Dror Mevorach, John M. Gomori, Bruria Ben-Zeev, Yakov Fellig, Adi Tabib, Orly Elpeleg, Yair Anikster, Hanoch Goldshmidt, Ben-Zion Garti
Publikováno v:
European Journal of Paediatric Neurology. 19:688-693
Identification of CD59 p.Cys89Tyr mutation in 5 patients from North-African Jewish origin presenting with chronic inflammatory demyelinating polyradiculoneuropathy like disease and chronic hemolysis, led us to reinvestigate an unsolved disease in 2 s
Autor:
Nicholas Katsanis, Rachel Laframboise, Myriam Srour, Catherine Fallet-Bianco, Erica E. Davis, Alexandre Dionne-Laporte, Anne-Marie Laberge, Guy A. Rouleau, Emmanuelle Lemyre, Luis H. Ospina, Brissa Martin, Mary K. Kukolich, Lysanne Patry, Bruno Maranda, Kym M. Boycott, Dorith Goldsher, Christine Massicotte, F. Rypens, Stavit A. Shalev, Jeremy Schwartzentruber, Fadi F. Hamdan, Orly Elpeleg, Renee-Myriam Boucher, Dianalee McKnight, Damian Labuda, Jacek Majewski, Jean-François Soucy, Hanna Mandel, Jean-Claude Décarie, Catalina Maftei, Christina Nassif, Jacques L. Michaud, Bernard Brais
Publikováno v:
The American Journal of Human Genetics. 97:744-753
Joubert syndrome (JBTS) is a primarily autosomal-recessive disorder characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. JBTS is a genetically heterogeneou
Autor:
Natalia Simanovsky, Adeeb NaserEddin, Joel Reiter, Bella Shadur, Orly Elpeleg, Oded Shamriz, Polina Stepensky, Irina Zaidman, Eitan Kerem
Publikováno v:
European journal of pediatrics. 177(8)
Lipopolysaccharide (LPS)-responsive beige-like anchor (LRBA) protein deficiency is a rare syndrome of primary immune deficiency and immune dysregulation. In this study, we sought to summarize our experience with respiratory manifestations in LRBA-def