Zobrazeno 1 - 10
of 54
pro vyhledávání: '"Avi Fellner"'
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022)
Abstract TUBB4A-associated disorder is a rare condition affecting the central nervous system. It displays a wide phenotypic spectrum, ranging from isolated late-onset torsion dystonia to a severe early-onset disease with developmental delay, neurolog
Externí odkaz:
https://doaj.org/article/f779275a9eed4160baa2920a67b8e8ac
Autor:
Lina Basel-Salmon, Noa Ruhrman-Shahar, Naama Orenstein, Michal Levy, Gabriel A. Lidzbarsky, Nurit A. Batzir, Marina Lifshitc-Kalis, Sarit Farage-Barhom, Gali Abel, Mayra Petasny, Dana Brabbing-Goldstein, Avi Fellner, Lily Bazak
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100813- (2023)
Purpose: Exome sequencing (ES) could detect pathogenic variants that are unrelated to the test indication, including findings that may have an impact for patients considering conception/reproduction (reproduction-related findings [RRFs]), deliberatel
Externí odkaz:
https://doaj.org/article/3c9f3c0169a74db9bf2377fbbc142be6
Autor:
Bianca R. Grosz, Stephen Tisch, Michel C. Tchan, Victor S. C. Fung, Paul Darveniza, Avi Fellner, Manju A. Kurian, Alison McLean, Susan E. Tomlinson, Renee Smyth, Sophie Devery, Kathy H. C. Wu, Marina L. Kennerson, Kishore R. Kumar
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 5, Pp n/a-n/a (2022)
Abstract Background Heterozygous KMT2B variants are a common cause of dystonia. A novel synonymous KMT2B variant, c.5073C>T (p.Gly1691=) was identified in an individual with childhood‐onset progressive dystonia. Methods The splicing impact of c.507
Externí odkaz:
https://doaj.org/article/c5bd7cb544b846f1b7533864122581bf
Autor:
Meital Ben-Dov, Avi Fellner, Ophir Keret, Itay Lotan, Lilach Goldstein, Daphna Mezad-Koursh, Israel Steiner, Ainat Klein
Publikováno v:
Journal of Clinical Neuroscience. 106:55-60
Elevated lumbar puncture opening pressure (ELPOP) is a reported but understudied phenomenon in aseptic meningitis. This study aimed to characterize the features of ELPOP in aseptic meningitis patients.An observational, retrospective, single-center st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79c99d4abf05d574b8ef7389b5c4c1d3
https://doi.org/10.1016/j.jocn.2022.10.001
https://doi.org/10.1016/j.jocn.2022.10.001
Autor:
Laura J. Williams, Jessica Qiu, Tien Lee Ong, Ira W. Deveson, Igor Stevanovski, Sanju R. Chintalaphani, Avi Fellner, Winny Varikatt, Hugo Morales‐Briceno, Michel Tchan, Kishore R. Kumar, Victor S.C. Fung
Publikováno v:
Movement Disorders Clinical Practice. 10:704-706
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9b4ba8d30a5a7c6c382b44c41fea5351
https://doi.org/10.1002/mdc3.13677
https://doi.org/10.1002/mdc3.13677
Publikováno v:
Journal of Neurology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7cdbcf2b94bbbade009d3038110a6228
https://doi.org/10.1007/s00415-023-11758-3
https://doi.org/10.1007/s00415-023-11758-3
Autor:
Masahiro Nishide, Kathleen Le Marquand, Mark R. Davis, Gábor M. Halmágyi, Avi Fellner, Ramesh K. Narayanan, Marina L. Kennerson, Stephen W. Reddel, Lisa Worgan, Peter K. Panegyres, Kishore R. Kumar
Publikováno v:
The Cerebellum.
Autosomal dominant variants in ELOVL4 cause spinocerebellar ataxia type 34 (SCA34; ATX-ELOVL4), classically associated with a skin condition known as erythrokeratoderma. Here, we report a large Italian-Maltese-Australian family with spinocerebellar a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bf973a767b491b071313ce2eba8038e5
https://doi.org/10.1007/s12311-023-01522-8
https://doi.org/10.1007/s12311-023-01522-8
Autor:
Shekeeb S. Mohammad, Laura J. Williams, Avi Fellner, Sophie Waller, Kishore R. Kumar, Michel Tchan, Victor S.C. Fung, Hugo Morales-Briceño
Publikováno v:
Movement Disorders Clinical Practice. 9:240-244
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::76d618a783a1ed388e0fb0a60f4b5eda
https://doi.org/10.1002/mdc3.13384
https://doi.org/10.1002/mdc3.13384
Autor:
Masahiro Nishide, Kathleen Le Marquand, Mark Davis, Gábor M. Halmágyi, Avi Fellner, Ramesh K. Narayanan, Marina L. Kennerson, Stephen W. Reddel, Lisa Worgan, Kishore R. Kumar
Autosomal dominant disease-causing variants in the ELOVL4 gene (Elongation of Very Long Chain Fatty Acids-like 4) cause spinocerebellar ataxia type 34 (SCA34; ATX-ELOVL4), classically associated with a skin condition known as erythrokeratoderma. Here
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::49c9a545e2d968c3b273a659f6b67cb2
https://doi.org/10.21203/rs.3.rs-2198569/v1
https://doi.org/10.21203/rs.3.rs-2198569/v1
Autor:
Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Noa Ruhrman-Shahar, Lina Basel-Salmon, Avi Fellner, Ofir Hagari-Bechar, Gabriel Arie Lidzbarsky, Hadar Brown-Shalev, Naama Orenstein, Lily Bazak
Publikováno v:
Genetics in Medicine. 23:1095-1100
Purpose To investigate the effectiveness of phenotype-based search approaches using publicly available online databases. Methods We included consecutively solved cases from our exome database. For each case, the combination of Human Phenotype Ontolog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::850b792a041f3cdb868272d137bd64a6
https://doi.org/10.1038/s41436-020-01085-7
https://doi.org/10.1038/s41436-020-01085-7