Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Sheel Pathak"'
Autor:
Parith Wongkittichote, Laura Duque Lasio, Martina Magistrati, Sheel Pathak, Brooke Sample, Daniel Carvalho, Adrianna Banzzatto Ortega, Claudio de Gusmao, Matheus Castro, Tomi Toler, Emanuele Bellacchio, Cristina Dallabona, Marwan Shinawi
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100388- (2023)
Externí odkaz:
https://doaj.org/article/83ed346d99624bc78f0efca86c900de8
Autor:
Erica Waters, Holly Dubbs, Marjo S. van der Knaap, Sheel Pathak, Wendy G. Mitchell, Diane Masser-Frye, Ryan J. Taft, Guy Helman, Jamie L. Fraser, Elliott H. Sherr, Scott Demarest, Cas Simons, Samuel Mirrop, Amy Pizzino, Raphael Schiffmann, Geneviève Bernard, Keith Van Haren, Lisa Emrick, Katherine Dobbins, Jean Hayward, Ryan Boeck, Adeline Vanderver, Stephanie Keller, Justine Shults, Omar Sherbini, Jeffrey Cohn, Leah Zhorne, Abigail Collins, Jenny L. Wilson, Swati Karmarkar
Publikováno v:
Vanderver, A, Bernard, G, Helman, G, Sherbini, O, Boeck, R, Cohn, J, Collins, A, Demarest, S, Dobbins, K, Emrick, L, Fraser, J, Masser-Frye, D, Hayward, J, Karmarkar, S, Keller, S, Mirrop, S, Mitchell, W, Pathak, S, Sherr, E, van Haren, K, Waters, E, Wilson, J L, Zhorne, L, Schiffmann, R, van der Knaap, M S, Pizzino, A, Dubbs, H, Shults, J, Simons, C, Taft, R J & LeukoSEQ Workgroup 2020, ' Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders ', Annals of Neurology, vol. 88, no. 2, pp. 264-273 . https://doi.org/10.1002/ana.25757
Annals of Neurology, 88(2), 264-273. John Wiley and Sons Inc.
Vanderver, A, Bernard, G, Helman, G, Sherbini, O, Boeck, R, Cohn, J, Collins, A, Demarest, S, Dobbins, K, Emrick, L, Fraser, J L, Masser-Frye, D, Hayward, J, Karmarkar, S, Keller, S, Mirrop, S, Mitchell, W, Pathak, S, Sherr, E, van Haren, K, Waters, E, Wilson, J L, Zhorne, L, Schiffmann, R, van der Knaap, M S, Pizzino, A, Dubbs, H, Shults, J, Simons, C & Taft, R J 2020, ' Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders ', Annals of Neurology, vol. 88, no. 2, pp. 264-273 . https://doi.org/10.1002/ana.25757
Ann Neurol
Annals of Neurology, 88(2), 264-273. John Wiley and Sons Inc.
Vanderver, A, Bernard, G, Helman, G, Sherbini, O, Boeck, R, Cohn, J, Collins, A, Demarest, S, Dobbins, K, Emrick, L, Fraser, J L, Masser-Frye, D, Hayward, J, Karmarkar, S, Keller, S, Mirrop, S, Mitchell, W, Pathak, S, Sherr, E, van Haren, K, Waters, E, Wilson, J L, Zhorne, L, Schiffmann, R, van der Knaap, M S, Pizzino, A, Dubbs, H, Shults, J, Simons, C & Taft, R J 2020, ' Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders ', Annals of Neurology, vol. 88, no. 2, pp. 264-273 . https://doi.org/10.1002/ana.25757
Ann Neurol
Objective: Genome sequencing (GS) is promising for unsolved leukodystrophies, but its efficacy has not been prospectively studied. Methods: A prospective time-delayed crossover design trial of GS to assess the efficacy of GS as a first-line diagnosti
Publikováno v:
Epilepsybehavior : EB. 125
Recently, patient advocacy groups started using the name Gould syndrome to describe clinical features of COL4A1 and COL4A2 mutations. Gould syndrome is increasingly identified in genetic screening panels, and because it is a rare disease, there is a
Autor:
Víctor Raggio, Debopam Samanta, Jennifer L. Fish, Melissa Jones, Jenny Li Örsell, Steven Sparagana, Yuri A. Zarate, Daniel H. Arndt, Russell C. Dale, Marcos Cruz, Guy Helman, Eveline Hagebeuk, Katherine A. Bosanko, Lisa Emrick, Gayatra Mainali, Sarah L. Chagnon, Alberto Fernández-Jaén, Adeline Vanderver, Stephanie Keller, John J. Alexander, Hannah Elisabeth Smashey Lewis, Sheel Pathak, Maina P. Kava, Sasidharan Taravath, Giangennaro Coppola, Deepa Krishnakumar, Douglas M. Smith, Jane Maclean, E. Martina Bebin, Cecil D. Hahn, Nancy A. McNamara, Amy C. Rowell, Tyler Mark Pierson
Background: Seizures are an under-reported feature of the SATB2-associated syndrome phenotype. We describe the electroencephalographic findings and seizure semiology and treatment in a population of individuals with SATB2-associated syndrome. Methods
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::651fd33fb1f7e54dbe21c926a6f42fc1
http://hdl.handle.net/11386/4748362
http://hdl.handle.net/11386/4748362
Autor:
Jonathan N. Dodd, Marwan Shinawi, Aida Telegrafi, Emily Brereton, Sheel Pathak, Emily Fassi, Gabriel C. Araujo
Publikováno v:
Molecular Genetics & Genomic Medicine
Background Dynamin 1 is a protein involved in the synaptic vesicle cycle, which facilitates the exocytosis of neurotransmitters necessary for normal signaling and development in the central nervous system. Pathogenic variants in DNM1 have been implic
Autor:
Gautam K. Singh, Jin-Moo Lee, Colin G. Nichols, Sheel Pathak, Katie D. Vo, Christopher R. Leon Guerrero, Dorothy K. Grange
Publikováno v:
Neurology. 87(3)
Objective: To describe the neurologic and neuroimaging manifestations associated with Cantu syndrome. Methods: We evaluated 10 patients with genetically confirmed Cantu syndrome. All adult patients, and pediatric patients who were able to cooperate a
Autor:
Sheel Pathak, Ignacio Valencia, Agustin Legido, Aparna M. Prabhu, Karen S. Carvalho, Divya S. Khurana
Publikováno v:
Epileptic disorders : international epilepsy journal with videotape. 16(1)
Myoclonus is a brief, rapid, involuntary muscle jerk originating in the central nervous system that can be physiological or a symptom of disease. We report a group of five children with excessive myoclonic jerks, only during sleep, and abnormal EEG d
Autor:
Gregory A. Storch, Bradley L. Schlaggar, Michael E. Watson, Chunyu Cai, Sheel Pathak, Duha Al-Zubeidi, Mathula Thangarajh, Dorothy K. Grange
Publikováno v:
Pediatric neurology. 51(3)
BACKGROUND: Human herpesvirus 6 is a significant cause of the febrile illness roseola infantum in young children. Infection with human herpesvirus 6 typically causes a self-limited febrile illness but occasionally is associated with central nervous s