Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Jennifer R. Friedman"'
Autor:
Deepa S. Rajan, Sukhleen Kour, Tyler R. Fortuna, Margot A. Cousin, Sarah S. Barnett, Zhiyv Niu, Dusica Babovic-Vuksanovic, Eric W. Klee, Brian Kirmse, Micheil Innes, Siri Lynne Rydning, Kaja K. Selmer, Magnus Dehli Vigeland, Anne Kjersti Erichsen, Andrea H. Nemeth, Francisca Millan, Catherine DeVile, Katherine Fawcett, Adrien Legendre, David Sims, Ricardo Parolin Schnekenberg, Lydie Burglen, Sandra Mercier, Somayeh Bakhtiari, Rosario Francisco-Velilla, Azman Embarc-Buh, Encarnacion Martinez-Salas, Kristen Wigby, Jerica Lenberg, Jennifer R. Friedman, Michael C. Kruer, Udai Bhan Pandey
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
The hereditary ataxias are a heterogenous group of disorders with an increasing number of causative genes being described. Due to the clinical and genetic heterogeneity seen in these conditions, the majority of such individuals endure a diagnostic od
Externí odkaz:
https://doaj.org/article/5d4040678c7b47c1897c45d67b96d069
Autor:
Jean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Patricia Fergelot, Jean Delmas, Boris Keren, Céline Poirsier, Fowzan S Alkuraya, Brahim Tabarki, Eric Bend, Kellie Davis, Martina Bebin, Michelle L Thompson, Emily M Bryant, Matias Wagner, Iris Hannibal, Jerica Lenberg, Martin Krenn, Kristen M Wigby, Jennifer R Friedman, Maria Iascone, Anna Cereda, Térence Miao, Eric LeGuern, Emanuela Argilli, Elliott Sherr, Oana Caluseriu, Timothy Tidwell, Pinar Bayrak-Toydemir, Caroline Hagedorn, Melanie Brugger, Katharina Vill, Francois-Dominique Morneau-Jacob, Wendy Chung, Kathryn N Weaver, Joshua W Owens, Ammar Husami, Bimal P Chaudhari, Brandon S Stone, Katie Burns, Rachel Li, Iris M de Lange, Margaux Biehler, Emmanuelle Ginglinger, Bénédicte Gérard, Rolf W Stottmann, Aurélien Trimouille
PurposeARF1was previously implicated in periventricular nodular heterotopia (PVNH) in only five individuals and systematic clinical characterisation was not available. The aim of this study is to provide a comprehensive description of the phenotypic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cd60c35e549ae106d81306fe5c6d999
https://mediatum.ub.tum.de/doc/1707433/document.pdf
https://mediatum.ub.tum.de/doc/1707433/document.pdf
Autor:
Deepa S, Rajan, Sukhleen, Kour, Tyler R, Fortuna, Margot A, Cousin, Sarah S, Barnett, Zhiyv, Niu, Dusica, Babovic-Vuksanovic, Eric W, Klee, Brian, Kirmse, Micheil, Innes, Siri Lynne, Rydning, Kaja K, Selmer, Magnus Dehli, Vigeland, Anne Kjersti, Erichsen, Andrea H, Nemeth, Francisca, Millan, Catherine, DeVile, Katherine, Fawcett, Adrien, Legendre, David, Sims, Ricardo Parolin, Schnekenberg, Lydie, Burglen, Sandra, Mercier, Somayeh, Bakhtiari, Rosario, Francisco-Velilla, Azman, Embarc-Buh, Encarnacion, Martinez-Salas, Kristen, Wigby, Jerica, Lenberg, Jennifer R, Friedman, Michael C, Kruer, Udai Bhan, Pandey
Publikováno v:
Frontiers in cell and developmental biology. 10
The hereditary ataxias are a heterogenous group of disorders with an increasing number of causative genes being described. Due to the clinical and genetic heterogeneity seen in these conditions, the majority of such individuals endure a diagnostic od
Autor:
Dillon Y. Chen, Shimul Chowdhury, Lauge Farnaes, Jennifer R. Friedman, Jose Honold, David P. Dimmock, on behalf of the RCIGM investigators, Jeffrey J. Gold
Publikováno v:
Pediatric Neurology. 86:69-70
Early infantile epileptic encephalopathies (EIEEs) are a group of disorders with seizures presenting early in life. EIEE is associated with significant mortality and morbidity. Approximately 50 percent of the affected patients die in infancy. Those w
Autor:
Ali, Torkamani, Kevin, Bersell, Benjamin S, Jorge, Robert L, Bjork, Jennifer R, Friedman, Cinnamon S, Bloss, Julie, Cohen, Siddharth, Gupta, Sakkubai, Naidu, Carlos G, Vanoye, Alfred L, George, Jennifer A, Kearney
Publikováno v:
Annals of neurology. 76(4)
Numerous studies have demonstrated increased load of de novo copy number variants or single nucleotide variants in individuals with neurodevelopmental disorders, including epileptic encephalopathies, intellectual disability, and autism.We searched fo
Autor:
Ying-Zhang, Chen, Jennifer R, Friedman, Dong-Hui, Chen, Guy C-K, Chan, Cinnamon S, Bloss, Fuki M, Hisama, Sarah E, Topol, Andrew R, Carson, Phillip H, Pham, Emily S, Bonkowski, Erick R, Scott, Janel K, Lee, Guangfa, Zhang, Glenn, Oliveira, Jian, Xu, Ashley A, Scott-Van Zeeland, Qi, Chen, Samuel, Levy, Eric J, Topol, Daniel, Storm, Phillip D, Swanson, Thomas D, Bird, Nicholas J, Schork, Wendy H, Raskind, Ali, Torkamani
Publikováno v:
Annals of neurology. 75(4)
To identify the cause of childhood onset involuntary paroxysmal choreiform and dystonic movements in 2 unrelated sporadic cases and to investigate the functional effect of missense mutations in adenylyl cyclase 5 (ADCY5) in sporadic and inherited cas