Zobrazeno 1 - 10
of 164
pro vyhledávání: '"Katherine D, Mathews"'
Autor:
Stephen M. Brown, Aparna S. Ajjarapu, Divya Ramachandra, Laura Blasco‐Pérez, Mar Costa‐Roger, Eduardo F. Tizzano, Charlotte J. Sumner, Katherine D. Mathews
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 11, Pp 3042-3046 (2024)
Abstract Twin girls born at 30 weeks' gestation with spinal muscular atrophy (SMA) received onsasemnogene‐abeparvovec (OA) at 3.5 weeks of life. They had no treatment‐related adverse events, normal acquisition of motor milestones, and normal neur
Externí odkaz:
https://doaj.org/article/d5dc5d12e75c4010864e8957627976d6
Autor:
Aravindhan Veerapandiyan, Anne M. Connolly, Katherine D. Mathews, Stanley Nelson, Craig McDonald, Richard S. Finkel, Vettaikorumakankav Vedanarayanan, Cuixia Tian, Susan Apkon, Julie A. Parsons, Jonathan H. Soslow, William Bryan Burnette, Kaitlin Y. Batley, Susan T. Iannaccone, Carolina Tesi Rocha, Kevin M. Flanigan, Diana Bharucha‐Goebel, Sarah Wright, Migvis Monduy, Simona Treidler, Ashutosh Kumar, Nancy L. Kuntz, Vamshi K. Rao, Rachel Schrader, Saunder M. Bernes, Vikki Ann Stefans, Jena M. Krueger, Marcia V. Felker, Omer Abdul Hamid, Arpita Lakhotia, Susan Matesanz, Partha S. Ghosh, Natalie Katz, Hoda Abdel‐Hamid, Chamindra G. Laverty, Bo Hoon Lee, Amy Harper, Leigh Ramos‐Platt, Diana Castro, Russell J. Butterfield, Crystal M. Proud, Craig M. Zaidman, Emma Ciafaloni
Publikováno v:
Annals of the Child Neurology Society, Vol 2, Iss 3, Pp 184-188 (2024)
Externí odkaz:
https://doaj.org/article/df1cf7b52fa3423cafb1b07b7a03d530
Autor:
Amy Doody, Lindsay Alfano, Jordi Diaz-Manera, Linda Lowes, Tahseen Mozaffar, Katherine D. Mathews, Conrad C. Weihl, Matthew Wicklund, Man Hung, Jeffrey Statland, Nicholas E. Johnson, On behalf of the GRASP-LGMD Consortium
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-13 (2024)
Abstract Background The Limb Girdle Muscular Dystrophies (LGMDs) are characterized by progressive weakness of the shoulder and hip girdle muscles as a result of over 30 different genetic mutations. This study is designed to develop clinical outcome a
Externí odkaz:
https://doaj.org/article/c61603f586d34df6b7a34a1f86705733
Autor:
David R. Lynch, Angie Goldsberry, Christian Rummey, Jennifer Farmer, Sylvia Boesch, Martin B. Delatycki, Paola Giunti, J. Chad Hoyle, Caterina Mariotti, Katherine D. Mathews, Wolfgang Nachbauer, Susan Perlman, S.H. Subramony, George Wilmot, Theresa Zesiewicz, Lisa Weissfeld, Colin Meyer
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 1, Pp 4-16 (2024)
Abstract Objective The natural history of Friedreich ataxia is being investigated in a multi‐center longitudinal study designated the Friedreich ataxia Clinical Outcome Measures Study (FACOMS). To understand the utility of this study in analysis of
Externí odkaz:
https://doaj.org/article/cae541cd926943679e42402f8027f507
Autor:
Christian Rummey, John M. Flynn, Louise A. Corben, Martin B. Delatycki, George Wilmot, Sub H. Subramony, Khalaf Bushara, Antoine Duquette, Christopher M. Gomez, J. Chad Hoyle, Richard Roxburgh, Lauren Seeberger, Grace Yoon, Katherine D. Mathews, Theresa Zesiewicz, Susan Perlman, David R. Lynch
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 6, Pp 1239-1250 (2021)
Abstract Objective The objective of this study was to characterize the incidence and progression of scoliosis in the natural history of Friedreich’s ataxia (FRDA) and document the factors leading to the requirement for corrective surgery. Methods D
Externí odkaz:
https://doaj.org/article/a2cb84dbe2df4c25be195148b462d7da
Autor:
Aparna Ajjarapu, Shawna ME. Feely, Michael E. Shy, Christina Trout, Stephan Zuchner, Steven A. Moore, Katherine D. Mathews
Publikováno v:
Case Reports in Neurology, Pp 1-1 (2023)
Dominant mutations in serine palmitoyltransferase long chain base subunit 1 (SPTLC1), a known cause of hereditary sensory autonomic neuropathy type 1 (HSAN1), are a recently identified cause of juvenile amyotrophic lateral sclerosis (JALS) with slow
Externí odkaz:
https://doaj.org/article/3d0bf05c17e4433e9a51434f5dbe929e
Autor:
Agathe Marcelot, Felipe Rodriguez-Tirado, Philippe Cuniasse, Mei-ling Joiner, Simona Miron, Alexey A. Soshnev, Mimi Fang, Miles A. Pufall, Katherine D. Mathews, Steven A. Moore, Sophie Zinn-Justin, Pamela K. Geyer
Publikováno v:
Cells, Vol 12, Iss 6, p 847 (2023)
Barrier-to-autointegration factor (BAF) is an essential component of the nuclear lamina. Encoded by BANF1, this DNA binding protein contributes to the regulation of gene expression, cell cycle progression, and nuclear integrity. A rare recessive BAF
Externí odkaz:
https://doaj.org/article/aa4e98a6497c4950bc2223cb46c36be8
Autor:
Anna M. Reelfs, Carrie M. Stephan, Shelley R.H. Mockler, Katie M. Laubscher, M. Bridget Zimmerman, Katherine D. Mathews
Publikováno v:
Neuromuscular Disorders. 33:523-530
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7e3c8642378c72c9791cdb1089406a3e
https://doi.org/10.1016/j.nmd.2023.05.005
https://doi.org/10.1016/j.nmd.2023.05.005
Autor:
Jennifer G. Andrews, Maureen Kelly Galindo, Shiny Thomas, Katherine D. Mathews, Nedra Whitehead
Publikováno v:
Journal of Clinical Neuromuscular Disease. 24:171-187
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::43ae36abb30378bbb420d0964f529149
https://doi.org/10.1097/cnd.0000000000000436
https://doi.org/10.1097/cnd.0000000000000436
Autor:
Sarah R Rivera, Sumit K Jhamb, Hoda Z Abdel-Hamid, Gyula Acsadi, John Brandsema, Emma Ciafaloni, Basil T Darras, Susan T Iannaccone, Chamindra G Konersman, Nancy L Kuntz, Craig M McDonald, Julie A Parsons, Carolina Tesi Rocha, Craig M Zaidman, Russell J Butterfield, Anne M Connolly, Katherine D Mathews
Publikováno v:
PLoS ONE, Vol 15, Iss 10, p e0240687 (2020)
IntroductionDuchenne muscular dystrophy (DMD) is a childhood onset muscular dystrophy leading to shortened life expectancy. There are gaps in published DMD care guidelines regarding recently approved DMD medications and alternative steroid dosing reg
Externí odkaz:
https://doaj.org/article/6715df668b4d4feb89a01ef4461b2d2e