Zobrazeno 1 - 10
of 129
pro vyhledávání: '"Lior, Greenbaum"'
Autor:
Orna Gera, Efrat Shavit‐Stein, Taly Amichai, Joab Chapman, Odelia Chorin, Lior Greenbaum, Amir Dori
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 11, Pp 2866-2876 (2024)
Abstract Objective Neuromuscular evaluation increasingly employs muscle ultrasonography to determine muscle thickness, mean grayscale echointensity, and visual semiquantitative echotexture attenuation. However, these measures provide low sensitivity
Externí odkaz:
https://doaj.org/article/0c20f1a424e7439d9e4167a41d2ed347
Autor:
Konstantin Senkevich, Sitki Cem Parlar, Cloe Chantereault, Eric Yu, Jamil Ahmad, Jennifer A. Ruskey, Farnaz Asayesh, Dan Spiegelman, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Irina Miliukhina, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Lior Greenbaum, Sharon Hassin-Baer, Roy N. Alcalay, Ziv Gan-Or
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-5 (2024)
Abstract Previous studies have established that rare biallelic SYNJ1 mutations cause autosomal recessive parkinsonism and Parkinson’s disease (PD). We analyzed 8165 PD cases, 818 early-onset-PD (EOPD, 20) in the Sac1 SYNJ1 domain and PD (Pfdr = 0.0
Externí odkaz:
https://doaj.org/article/0ec195e276c84eb0a0914dc2c12af9bb
Autor:
James Chettle, Raymond J. Louie, Olivia Larner, Robert Best, Kevin Chen, Josephine Morris, Zinaida Dedeic, Anna Childers, R. Curtis Rogers, Barbara R. DuPont, Cindy Skinner, Sébastien Küry, Kevin Uguen, Marc Planes, Danielle Monteil, Megan Li, Aviva Eliyahu, Lior Greenbaum, Nofar Mor, Thomas Besnard, Bertrand Isidor, Benjamin Cogné, Alyssa Blesson, Anne Comi, Ingrid M. Wentzensen, Blake Vuocolo, Seema R. Lalani, Roberta Sierra, Lori Berry, Kent Carter, Stephan J. Sanders, Sarah P. Blagden
Publikováno v:
HGG Advances, Vol 5, Iss 4, Pp 100345- (2024)
Summary: Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) that affects approximately 4% of males and 1% of females in the United States. While causes of ASD are multi-factorial, single rare genetic variants contribute to around 2
Externí odkaz:
https://doaj.org/article/e0e49cd5da4340678f3756e671807267
Autor:
Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Sebastian Valenzuela, Xie Xie, Katja E Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous, Genomics England Research Consortium, Joanna Poulton, Hector Garcia‐Moreno, Paola Giunti, Carlos A de Moura Aschoff, Jonas A Morales Saute, Amelia J Kirby, Camilo Toro, Lynne Wolfe, Danica Novacic, Lior Greenbaum, Aviva Eliyahu, Ortal Barel, Yair Anikster, Robert McFarland, Gráinne S Gorman, Andrew M Schaefer, Claes M Gustafsson, Robert W Taylor, Maria Falkenberg, Thomas J Nicholls
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 5, Pp 1-21 (2023)
Abstract Topoisomerase 3α (TOP3A) is an enzyme that removes torsional strain and interlinks between DNA molecules. TOP3A localises to both the nucleus and mitochondria, with the two isoforms playing specialised roles in DNA recombination and replica
Externí odkaz:
https://doaj.org/article/c9e7e4ced0784d4394725c67d2a116f4
Autor:
Amir Dori, Michael Arad, Yishay Wasserstrum, Arthur Pollak, Vera Nikitin, Merav Ben‐David, Jana Shamash, Ayelet Hashachar Nahum, Efrat Shavit‐Stein, Liran Domachevsky, Rafael Kuperstein, Dan Dominissini, Natalia Shelestovich, Menachem Sadeh, Elon Pras, Lior Greenbaum
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 4, Pp 553-567 (2023)
Abstract Objective Amyloidosis due to the transthyretin Ser77Tyr mutation (ATTRS77Y) is a rare autosomal‐dominant disorder, characterized by carpal‐tunnel syndrome, poly‐ and autonomic‐neuropathy, and cardiomyopathy. However, related symptoms
Externí odkaz:
https://doaj.org/article/68c41e30acf44131b822b27749f5984e
Autor:
Liat Ben-Ami, Ramit Ravona-Springer, Galia Tsarfaty, Reut Raizman, Aleeza Shumacher, Inbal Sharvit-Ginon, Lior Greenbaum, Barbara B. Bendlin, Eitan Okun, Anthony Heymann, Michal Schnaider Beeri, Abigail Livny
Publikováno v:
Frontiers in Aging Neuroscience, Vol 15 (2023)
IntroductionRecently, interest has emerged in subjective cognitive decline (SCD) as a potential precursor to Alzheimer’s disease (AD) dementia. Whether individuals with SCD harbor brain alterations in midlife, when AD-related pathology begins, is y
Externí odkaz:
https://doaj.org/article/4b8a9c501d9242e7a878295794c9fe7c
Autor:
Ben Pode-Shakked, Ortal Barel, Amihood Singer, Miriam Regev, Hana Poran, Aviva Eliyahu, Yael Finezilber, Meirav Segev, Michal Berkenstadt, Hagith Yonath, Haike Reznik-Wolf, Yael Gazit, Odelia Chorin, Gali Heimer, Lidia V. Gabis, Michal Tzadok, Andreea Nissenkorn, Omer Bar-Yosef, Efrat Zohar-Dayan, Bruria Ben-Zeev, Nofar Mor, Nitzan Kol, Omri Nayshool, Noam Shimshoviz, Ifat Bar-Joseph, Dina Marek-Yagel, Elisheva Javasky, Reviva Einy, Moran Gal, Julia Grinshpun-Cohen, Mordechai Shohat, Dan Dominissini, Annick Raas-Rothschild, Gideon Rechavi, Elon Pras, Lior Greenbaum
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Abstract Exome sequencing (ES) is an important diagnostic tool for individuals with neurodevelopmental disorders (NDD) and/or multiple congenital anomalies (MCA). However, the cost of ES limits the test's accessibility for many patients. We evaluated
Externí odkaz:
https://doaj.org/article/e733bb6318cd4cbcadc0d78a11b7a3cd
Autor:
Odelia Chorin, Yoel Hirsch, Rachel Rock, Liat Salzer Sheelo, Yael Goldberg, Hanna Mandel, Tova Hershkovitz, Nicole Fleischer, Lior Greenbaum, Uriel Katz, Ortal Barel, Nasrin Hamed, Bruria Ben-Zeev, Shoshana Greenberger, Nadra Nasser Samra, Michal Stern Zimmer, Annick Raas-Rothschild, Ben Pode-Shakked
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Introduction: Vici Syndrome is a rare, severe, neurodevelopmental/neurodegenerative disorder with multi-systemic manifestations presenting in infancy. It is mainly characterized by global developmental delay, seizures, agenesis of the corpus callosum
Externí odkaz:
https://doaj.org/article/8e8a48b5d2af47e29c4d8e95ea739427
Autor:
Lior Greenbaum, Merav Ben‐David, Vera Nikitin, Orna Gera, Ortal Barel, Adi Hersalis‐Eldar, Jana Shamash, Noam Shimshoviz, Haike Reznik‐Wolf, Mordechai Shohat, Dan Dominissini, Elon Pras, Amir Dori
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 6, Pp 1260-1268 (2021)
Abstract Objective Mutations in the HSPB1 gene are associated with a distal hereditary motor neuropathy type 2 (dHMN2) or Charcot‐Marie‐Tooth disease type 2F (CMT2F), usually with autosomal dominant inheritance. This study aimed to describe the p
Externí odkaz:
https://doaj.org/article/dd5597ef35844c088b00410a5cdcd5a6
Autor:
Sigalit B. Manzali, Eric Yu, Ramit Ravona-Springer, Abigail Livny, Sapir Golan, Yuxia Ouyang, Orit Lesman-Segev, Lang Liu, Ithamar Ganmore, Anna Alkelai, Ziv Gan-Or, Hung-Mo Lin, Anthony Heymann, Michal Schnaider Beeri, Lior Greenbaum
Publikováno v:
Frontiers in Aging Neuroscience, Vol 14 (2022)
ObjectivesMultiple risk loci for late-onset Alzheimer’s disease (LOAD) have been identified. Type 2 diabetes (T2D) is a risk factor for cognitive decline, dementia and Alzheimer’s disease (AD). We investigated the association of polygenic risk sc
Externí odkaz:
https://doaj.org/article/d3a677050e164a44a61ab23bb5bbd983