T
Tally Lerman Sagie
Researcher at Wolfson Medical Center
Publications - 3
Citations - 909
Tally Lerman Sagie is an academic researcher from Wolfson Medical Center. The author has contributed to research in topics: Cilium & Gene. The author has an hindex of 3, co-authored 3 publications receiving 854 citations.
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Journal ArticleDOI
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.
Shinji Hadano,Collette K. Hand,Hitoshi Osuga,Yoshiko Yanagisawa,Asako Otomo,Rebecca S. Devon,Natsuki Miyamoto,Junko Showguchi-Miyata,Yoshinori Okada,Roshni R. Singaraja,Denise A. Figlewicz,Thomas J. Kwiatkowski,Betsy A. Hosler,Tally Lerman Sagie,Jennifer Skaug,Jamal Nasir,Jamal Nasir,Robert H. Brown,Stephen W. Scherer,Guy A. Rouleau,Michael R. Hayden,Joh-E Ikeda,Joh-E Ikeda +22 more
TL;DR: Two independent deletion mutations linked to ALS2 are identified in the coding exons of the new gene ALS2, providing strong evidence that ALS2 is the causative gene underlying this form of ALS.
Journal ArticleDOI
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
Enza Maria Valente,Clare V. Logan,Soumaya Mougou-Zerelli,Jeong Ho Lee,Jennifer L. Silhavy,Francesco Brancati,Francesco Brancati,Miriam Iannicelli,Lorena Travaglini,Sveva Romani,Barbara Illi,Matthew Adams,Katarzyna Szymanska,Annalisa Mazzotta,Ji Eun Lee,Jerlyn C Tolentino,Dominika Swistun,Carmelo Salpietro,Carmelo Fede,Stacey Gabriel,Carsten Russ,Kristian Cibulskis,Carrie Sougnez,Friedhelm Hildebrandt,Edgar A. Otto,Susanne Held,Bill H. Diplas,Erica E. Davis,Mario Mikula,Charles M. Strom,Bruria Ben-Zeev,Dorit Lev,Tally Lerman Sagie,Marina Michelson,Yuval Yaron,Amanda Krause,Eugen Boltshauser,Nadia Elkhartoufi,Joelle Roume,Stavit A. Shalev,Arnold Munnich,Sophie Saunier,Chris F. Inglehearn,Ali Saad,Adila Al-Kindy,Adila Al-Kindy,Sophie Thomas,Michel Vekemans,Bruno Dallapiccola,Nicholas Katsanis,Colin A. Johnson,Tania Attié-Bitach,Joseph G. Gleeson +52 more
TL;DR: It is reported that MKS2 and CORS2 (JBTS2) loci are allelic and caused by mutations in TMEM216, which encodes an uncharacterized tetraspan transmembrane protein.
Journal ArticleDOI
MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder.
Esther Leshinsky-Silver,Ami Zinger,Chaim N Bibi,Varda Barash,Menachem Sadeh,Dorit Lev,Tally Lerman Sagie +6 more
TL;DR: This work describes a child with MEHMO and lactic acidosis whose muscle biopsy revealed markedly reduced activities of complexes 1,3 and 4 of the mitochondrial electron transport chain.