Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Angela Kokkinis"'
Autor:
Joshua J. Todd, Tokunbor A. Lawal, Irene C. Chrismer, Angela Kokkinis, Christopher Grunseich, Minal S. Jain, Melissa R. Waite, Victoria Biancavilla, Shavonne Pocock, Kia Brooks, Christopher J. Mendoza, Gina Norato, Ken Cheung, Willa Riekhof, Pooja Varma, Claudia Colina-Prisco, Magalie Emile-Backer, Katherine G. Meilleur, Andrew R. Marks, Yael Webb, Eugene E. Marcantonio, A. Reghan Foley, Carsten G. Bönnemann, Payam Mohassel
Publikováno v:
EClinicalMedicine, Vol 68, Iss , Pp 102433- (2024)
Summary: Background: RYR1-related myopathies (RYR1-RM) are caused by pathogenic variants in the RYR1 gene which encodes the type 1 ryanodine receptor (RyR1). RyR1 is the sarcoplasmic reticulum (SR) calcium release channel that mediates excitation-con
Externí odkaz:
https://doaj.org/article/eaee208d483c458182ce30c47fd601c7
Autor:
Vincent Shieh, Cris Zampieri, Paul Stout, Galen O. Joe, Angela Kokkinis, Kenneth H. Fischbeck, Christopher Grunseich, Joseph A. Shrader
Publikováno v:
Journal of Rehabilitation Medicine - Clinical Communications, Vol 5 (2022)
Objective: Spinal and bulbar muscular atrophy is characterized by slow-progressive muscle weakness, decreased functional performance and falls. Research into the use of exercise in spinal and bulbar muscular atrophy has shown equivocal to negative re
Externí odkaz:
https://doaj.org/article/4724d44a0a1143ebb0a19391af9e01fc
Autor:
Brian Johnson, Angela Kokkinis, Neville Gai, Ejaz A. Shamim, Craig Blackstone, Kenneth H. Fischbeck, Christopher Grunseich
Publikováno v:
Genes, Vol 13, Iss 6, p 936 (2022)
We describe evidence of fatty liver disease in patients with forms of motor neuron degeneration with both genetic and sporadic etiology compared to controls. A group of 13 patients with motor neuron disease underwent liver imaging and laboratory anal
Externí odkaz:
https://doaj.org/article/4f220f0da5a548758ce7a9954483ee6e
Autor:
Joseph A. Shrader, Ashwini Sansare, Vincent Shieh, Joshua G. Woolstenhulme, Julie Rekant, Rafael Jiménez-Silva, Galen O. Joe, Angela Kokkinis, Kenneth H. Fischbeck, Christopher Grunseich, Cristiane Zampieri
Publikováno v:
Rehabilitation Research and Practice, Vol 2021 (2021)
Introduction. Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disorder that leads to progressive weakness of bulbar and extremity muscles. Dynamic balance during functional tasks has not been reported in people with SBMA. Objectives. (1)
Externí odkaz:
https://doaj.org/article/dbba99f4c8e3455f97dee150ab8a8e3f
Autor:
Modibo Sangare, Ilo Dicko, Cheick Oumar Guinto, Adama Sissoko, Kekouta Dembele, Youlouza Coulibaly, Siaka Y. Coulibaly, Guida Landoure, Abdallah Diallo, Mamadou Dolo, Housseini Dolo, Boubacar Maiga, Moussa Traore, Mamadou Karembe, Kadiatou Traore, Amadou Toure, Mariam Sylla, Arouna Togora, Souleymane Coulibaly, Sékou Fantamady Traore, Brant Hendrickson, Katherine Bricceno, Alice B. Schindler, Angela Kokkinis, Katherine G. Meilleur, Hammadoun Ali Sangho, Brehima Diakite, Yaya Kassogue, Yaya Ibrahim Coulibaly, Barrington Burnett, Youssoufa Maiga, Seydou Doumbia, Kenneth H. Fischbeck
Publikováno v:
eNeurologicalSci, Vol 3, Iss C, Pp 17-20 (2016)
Introduction: Spinal muscular atrophy (SMA) and sporadic amyotrophic lateral sclerosis (SALS) are both motor neuron disorders. SMA results from the deletion of the survival motor neuron (SMN) 1 gene. High or low SMN1 copy number and the absence of SM
Externí odkaz:
https://doaj.org/article/398cea98f58a47b7bc911dd309ab2e9b
Autor:
Michael O. Harris-Love, Lindsay Fernandez-Rhodes, Galen Joe, Joseph A. Shrader, Angela Kokkinis, Alison La Pean Kirschner, Sungyoung Auh, Cheunju Chen, Li Li, Ellen Levy, Todd E. Davenport, Nicholas A. Di Prospero, Kenneth H. Fischbeck
Publikováno v:
Rehabilitation Research and Practice, Vol 2014 (2014)
Purpose. The adult myopathy assessment tool (AMAT) is a performance-based battery comprised of functional and endurance subscales that can be completed in approximately 30 minutes without the use of specialized equipment. The purpose of this study wa
Externí odkaz:
https://doaj.org/article/8b3535cd73c24601bfd4bfee9a1e3440
Autor:
Abdullah Alqahtani, Angela Kokkinis, Nuran Dilek, Kenneth Fischbeck, Chad Heatwole, Christopher Grunseich
Publikováno v:
Wednesday, April 26.
Autor:
Cristiane Zampieri, Rafael Jiménez-Silva, Kenneth H. Fischbeck, Ashwini Sansare, Christopher Grunseich, Vincent Shieh, Joshua G. Woolstenhulme, Angela Kokkinis, Galen O. Joe, Joseph A. Shrader, Julie S Rekant
Publikováno v:
Rehabilitation Research and Practice
Rehabilitation Research and Practice, Vol 2021 (2021)
Rehabilitation Research and Practice, Vol 2021 (2021)
Introduction. Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disorder that leads to progressive weakness of bulbar and extremity muscles. Dynamic balance during functional tasks has not been reported in people with SBMA. Objectives. (1)
Autor:
Sonja W. Scholz, Angela Kokkinis, William Zhu, Ellen Sidransky, Alice B. Schindler, Risa Isonaka, Marya S. Sabir, Esther Yoon, David S. Goldstein, Grisel Lopez, Pedro Gonzalez-Alegre, Sara Bandres-Ciga, Derek P. Narendra, Cornelis Blauwendraat, Debra Ehrlich
Publikováno v:
Mov Disord
BACKGROUND: Cytoplasmic inclusions of α-synuclein in brainstem neurons are characteristic of idiopathic Parkinson’ disease. Parkinson’s disease also entails α-synuclein buildup in sympathetic nerves. Among genetic forms of Parkinson’s disease
Autor:
Pedro Gonzalez-Alegre, David S. Goldstein, Tanya Bardakjian, Diana Nguyen, Debra Ehrlich, Alice B. Schindler, Derek P. Narendra, Risa Isonaka, Angela Kokkinis, Tsao-Wei Liang
Publikováno v:
Neurology. 94(21)
We welcome the additional confirmed DJ1/PARK7 case and another probable case reported by Namnah et al. in their comment on our article.1 They further substantiate the occurrence of early cataracts in DJ1/PARK7 present in 5/35 (14.3%) cases. The case