Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Yael Shiloh-Malawsky"'
Autor:
Leping Li, Lalith Perera, Sonia A. Varghese, Yael Shiloh-Malawsky, Senyene E. Hunter, Tam P. Sneddon, Cynthia M. Powell, A. Gregory Matera, Zheng Fan
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 17 (2023)
The vast majority of severe (Type 0) spinal muscular atrophy (SMA) cases are caused by homozygous deletions of survival motor neuron 1 (SMN1). We report a case in which the patient has two copies of SMN1 but clinically presents as Type 0 SMA. The pat
Externí odkaz:
https://doaj.org/article/bd5ba1db86b34213987350d7bbf7dbd1
Autor:
Marta Zolnowska, Rima Nabbout, Ingrid E. Scheffer, Jonathan J. Halford, Rocío Sánchez-Carpintero, Ian Miller, Eduardo Dunayevich, Daniel Checketts, Yael Shiloh-Malawsky, Orrin Devinsky, Matthew Wong
Publikováno v:
Epilepsia. 62:2505-2517
Objective Add-on cannabidiol (CBD) reduced seizures associated with Dravet syndrome (DS) in two randomized, double-blind, placebo-controlled trials: GWPCARE1 Part B (NCT02091375) and GWPCARE2 (NCT02224703). Patients who completed GWPCARE1 Part A (NCT
Publikováno v:
Epilepsy ISBN: 9780645332049
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5dc4a234a8ae23cdf650b81973978f0e
https://doi.org/10.36255/exon-publications-epilepsy-genetics
https://doi.org/10.36255/exon-publications-epilepsy-genetics
Autor:
Aiysha Chaudhry, Alkyoni Athanasiou-Fragkouli, Hector Garcia-Moreno, Silvia Prades Abadias, Julie Greenfield, Yael Shiloh-Malawsky, Paola Giunti, Henry Houlden
Publikováno v:
Journal of Neurology. 268:3042-3042
A correction to this paper has been published: https://doi.org/10.1007/s00415-021-10644-0
Autor:
Tamara S. Roman, Yael Shiloh-Malawsky, Zheng Fan, Karen E. Weck, Jonathan S. Berg, Yasemin Cole, Senyene Hunter, Bradford C. Powell, Thomas Felton, Isabella Dreyfuss
Publikováno v:
Molecular Genetics and Metabolism. 132:S262
Publikováno v:
Pediatric and Adult Nutrition in Chronic Diseases, Developmental Disabilities, and Hereditary Metabolic Disorders: Prevention, Assessment, and Treatment
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bc94e16b8381eed7c0f64a48392917c4
https://doi.org/10.1093/acprof:oso/9780199398911.003.0010
https://doi.org/10.1093/acprof:oso/9780199398911.003.0010
Publikováno v:
Journal of Neurology. 262:1587-1589
A computerized MRI biomarker quantification scheme for a canine model of Duchenne muscular dystrophy
Autor:
Krista Vandenborne, Glenn A. Walter, Martin Styner, Yael Shiloh-Malawsky, Joe N. Kornegay, Jiahui Wang, Hongyu An, Zheng Fan
Publikováno v:
International Journal of Computer Assisted Radiology and Surgery. 8:763-774
Purpose Golden retriever muscular dystrophy (GRMD) is a widely used canine model of Duchenne muscular dystrophy (DMD). Recent studies have shown that magnetic resonance imaging (MRI) can be used to non-invasively detect consistent changes in both DMD
Autor:
Robert S. Greenwood, Yael Shiloh-Malawsky, Zheng Fan, Kirk C. Wilhelmsen, Ana Felix, Kristy Crooks, James P. Evans, Michael B. Tennison, Karen E. Weck, Myra I. Roche, Jonathan S. Berg
Publikováno v:
Journal of Neurology. 261:622-624
Autor:
Christian R. Tilley, Kirk C. Wilhelmsen, Natasha T. Strande, Roberto J. Guzman Badillo, Linran Zhou, Kristy Crooks, Krunal Amin, Laura V. Milko, Nizar Chahin, Jonathan S. Berg, Michael C. Adams, Robert S. Greenwood, Yael Shiloh-Malawsky, Michael B. Tennison, James P. Evans, Gloria T. Haskell, Chris Bizon, Zheng Fan, Karen E. Weck, Alicia Brandt
Publikováno v:
Neurology: Genetics
ObjectiveTo evaluate the diagnostic yield and workflow of genome-scale sequencing in patients with neuromuscular disorders (NMDs).MethodsWe performed exome sequencing in 93 undiagnosed patients with various NMDs for whom a molecular diagnosis was not