Zobrazeno 1 - 10
of 595
pro vyhledávání: '"S. Ledoux"'
Autor:
D. Estève, N. Boulet, C. Belles, A. Zakaroff-Girard, P. Decaunes, A. Briot, Y. Veeranagouda, M. Didier, A. Remaury, J. C. Guillemot, S. Ledoux, C. Dani, A. Bouloumié, J. Galitzky
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
In human adipose tissue (AT), adipocytes are organized into units of lobules. Here the authors identify distinct fibrous septal and stromal compartments within AT lobules that differ in composition and potential between subcutaneous and visceral regi
Externí odkaz:
https://doaj.org/article/dba09988bc1e42c79fc9d479582cd049
Autor:
Sinem Balta Beylergil, Krishna Nikhil Mukunda, Mohamed Elkasaby, Joel S. Perlmutter, Stewart Factor, Tobias Bäumer, Jeanne Feurestein, Erika Shelton, Steven Bellows, Joseph Jankovic, Abhimanyu Mahajan, Tila Wamer-Rosen, Stephen G. Reich, Aparna Wagle Shukla, Irene Malaty, Alberto Espay, Kevin Duque, Mark S. LeDoux, Rachel Saunders-Pullman, Katherine Leaver, Samuel Frank, Alexander Pantelyat, Victor Fung, Sarah Pirio Richardson, Brian Berman, Natividad Stover, Andres Deik, William Ondo, Christopher Groth, Hyder A. Jinnah, Aasef G. Shaikh
Publikováno v:
Dystonia, Vol 3 (2024)
Background: Cervical dystonia (CD) is the most common form of focal dystonia encountered in the clinic. Approximately one-third of CD patients have co-existing tremor in the head and hands. Assessment of tremor as regular or irregular in context of i
Externí odkaz:
https://doaj.org/article/fb0f957640434ceb9bf756aa79ae7fbd
Autor:
Samira Saeirad, Mark S. LeDoux
Publikováno v:
Dystonia, Vol 3 (2024)
Introduction: In preceding work, a deleterious REEP4 variant [GRCh38/hg38, NC_000008.11:g.22140245G>A, NM_025232.4:c.109C>T, p.Arg37Trp] was found to co-segregate with blepharospasm (BSP) in a large African-American pedigree. Other REEP4 variants hav
Externí odkaz:
https://doaj.org/article/9ae5c9d3ca0e46ca9c0b11de1ba06e95
Autor:
Mark S. LeDoux
Publikováno v:
Biomedicines, Vol 12, Iss 5, p 1092 (2024)
Polymerase I (Pol I) is at the epicenter of ribosomal RNA (rRNA) synthesis. Pol I is a target for the treatment of cancer. Given the many cellular commonalities between cancer and neurodegeneration (i.e., different faces of the same coin), it seems r
Externí odkaz:
https://doaj.org/article/7fc3109ef4504078a760d8844cfda45d
Autor:
Mark S. LeDoux
Publikováno v:
Clinical Parkinsonism & Related Disorders, Vol 11, Iss , Pp 100272- (2024)
Due to financial constraints, a patient with Wilson disease required transitioning his maintenance pharmacotherapy from zinc acetate to zinc gluconate. Herein, we report the clinical and laboratory outcomes of this switch and review the relevant lite
Externí odkaz:
https://doaj.org/article/61d0805ff5b543de972cbbfbaff38ab7
Autor:
Marc P. Forrest, Marc Dos Santos, Nicolas H. Piguel, Yi-Zhi Wang, Nicole A. Hawkins, Vikram A. Bagchi, Leonardo E. Dionisio, Sehyoun Yoon, Dina Simkin, Maria Dolores Martin-de-Saavedra, Ruoqi Gao, Katherine E. Horan, Alfred L. George, Mark S. LeDoux, Jennifer A. Kearney, Jeffrey N. Savas, Peter Penzes
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-20 (2023)
The 16p11.2 duplication confers risk for autism and schizophrenia, but the disease mechanisms are unknown. Here, the authors use proteomics to show dysregulation of synaptic and epilepsy-associated protein networks in the cortex of model mice, and de
Externí odkaz:
https://doaj.org/article/d8bd400d64534b3a8bce832350e7bb51
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
The UBTF E210K neuroregression syndrome is a predominantly neurological disorder caused by recurrent de novo dominant variants in Upstream Binding Factor, that is, essential for transcription of the ribosomal RNA genes. This unusual form of ribosomop
Externí odkaz:
https://doaj.org/article/907e0244128346188be93e78b3b585b4
Autor:
Mark S. LeDoux
Publikováno v:
Clinical Parkinsonism & Related Disorders, Vol 9, Iss , Pp 100221- (2023)
Most commonly, hemichorea associated with nonketotic and ketotic hyperglycemia resolves with normalization of blood glucose. Herein, we present a case of hyperosmolar hyperglycemic left hemichoreoathetosis-hemidystonia that has persisted for over 1 y
Externí odkaz:
https://doaj.org/article/c301671f44b44dbca8f6ed94b6fd1b1a
Autor:
Michel G Tremblay, Dany S Sibai, Melissa Valère, Jean-Clément Mars, Frédéric Lessard, Roderick T Hori, Mohammad Moshahid Khan, Victor Y Stefanovsky, Mark S LeDoux, Tom Moss
Publikováno v:
PLoS Genetics, Vol 18, Iss 2, p e1009644 (2022)
Transcription of the ~200 mouse and human ribosomal RNA genes (rDNA) by RNA Polymerase I (RPI/PolR1) accounts for 80% of total cellular RNA, around 35% of all nuclear RNA synthesis, and determines the cytoplasmic ribosome complement. It is therefore
Externí odkaz:
https://doaj.org/article/5a21282da3654c08a2cbd171992d0699
Autor:
Laura M. Scorr, Stewart A. Factor, Sahyli Perez Parra, Rachel Kaye, Randal C. Paniello, Scott A. Norris, Joel S. Perlmutter, Tobias Bäumer, Tatiana Usnich, Brian D. Berman, Marie Mailly, Emmanuel Roze, Marie Vidailhet, Joseph Jankovic, Mark S. LeDoux, Richard Barbano, Florence C. F. Chang, Victor S. C. Fung, Sarah Pirio Richardson, Andrew Blitzer, H. A. Jinnah
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Objective: The goal of this study is to better characterize the phenotypic heterogeneity of oromandibular dystonia (OMD) for the purpose of facilitating early diagnosis.Methods: First, we provide a comprehensive summary of the literature encompassing
Externí odkaz:
https://doaj.org/article/0634a2ad37b94f16a06e33a9b223c951