Zobrazeno 1 - 10
of 281
pro vyhledávání: '"Kenneth H. Fischbeck"'
Autor:
Naemeh Pourshafie, Ester Masati, Amber Lopez, Eric Bunker, Allison Snyder, Nancy A. Edwards, Audrey M. Winkelsas, Kenneth H. Fischbeck, Christopher Grunseich
Publikováno v:
Neurobiology of Disease, Vol 172, Iss , Pp 105832- (2022)
Synaptojanin 2 binding protein (SYNJ2BP) is an outer mitochondrial membrane protein with a cytosolic PDZ domain that functions as a cellular signaling hub. Few studies have evaluated its role in disease. Here we use induced pluripotent stem cell (iPS
Externí odkaz:
https://doaj.org/article/ea3ca719beac427eb64a0f2d7c23bdee
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:
Audrey M. Winkelsas, Christopher Grunseich, George G. Harmison, Katarzyna Chwalenia, Carlo Rinaldi, Suzan M. Hammond, Kory Johnson, Melissa Bowerman, Sukrat Arya, Kevin Talbot, Matthew J. Wood, Kenneth H. Fischbeck
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 23, Iss , Pp 731-742 (2021)
Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by mutations in the survival motor neuron 1 (SMN1) gene. All patients have at least one copy of a paralog, SMN2, but a C-to-T transition in this gene results in exon 7 skipping in a maj
Externí odkaz:
https://doaj.org/article/d9d006289a604f67a876744aeacd1ddf
Autor:
Cheick A. K. Cissé, Lassana Cissé, Hamidou O. Ba, Oumar Samassékou, Assiatou Simaga, Abdoulaye Taméga, Salimata Diarra, Seybou H. Diallo, Thomas Coulibaly, Salimata Diallo, Abdoulaye Yalcouyé, Alassane B. Maiga, Mohamed Keita, Kenneth H. Fischbeck, Sékou F. Traoré, Cheick O. Guinto, Guida Landouré, from the H3Africa Consortium
Publikováno v:
Clinical Case Reports, Vol 9, Iss 5, Pp n/a-n/a (2021)
Abstract Friedreich ataxia is the most common inherited ataxia in the world, but yet to be reported in black African. We report the first genetically confirmed case in a West African family. Studying genetic diseases in populations with diverse backg
Externí odkaz:
https://doaj.org/article/3ce7e5c3473843f383e4d9cc79553471
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:
Emily Foran, Deborah Y. Kwon, Jonathan H. Nofziger, Eveline S. Arnold, Matthew D. Hall, Kenneth H. Fischbeck, Barrington G. Burnett
Publikováno v:
Neurobiology of Disease, Vol 88, Iss , Pp 118-124 (2016)
The development of therapeutics for neurological disorders is constrained by limited access to the central nervous system (CNS). ATP-binding cassette (ABC) transporters, particularly P-glycoprotein (P-gp) and breast cancer resistance protein (BCRP),
Externí odkaz:
https://doaj.org/article/891d7a1cee84474a87764f91c4d60f2e
Autor:
Christopher Grunseich, Kristen Zukosky, Ilona R. Kats, Laboni Ghosh, George G. Harmison, Laura C. Bott, Carlo Rinaldi, Ke-lian Chen, Guibin Chen, Manfred Boehm, Kenneth H. Fischbeck
Publikováno v:
Neurobiology of Disease, Vol 70, Iss , Pp 12-20 (2014)
Spinal and bulbar muscular atrophy (SBMA, Kennedy's disease) is a motor neuron disease caused by polyglutamine repeat expansion in the androgen receptor. Although degeneration occurs in the spinal cord and muscle, the exact mechanism is not clear. In
Externí odkaz:
https://doaj.org/article/3ab00d5a56dd44d8848d952bcc5d6dc8
Autor:
Biljana Ermanoska, William W. Motley, Ricardo Leitão-Gonçalves, Bob Asselbergh, LaTasha H. Lee, Peter De Rijk, Kristel Sleegers, Tinne Ooms, Tanja A. Godenschwege, Vincent Timmerman, Kenneth H. Fischbeck, Albena Jordanova
Publikováno v:
Neurobiology of Disease, Vol 68, Iss , Pp 180-189 (2014)
Aminoacyl-tRNA synthetases are ubiquitously expressed proteins that charge tRNAs with their cognate amino acids. By ensuring the fidelity of protein synthesis, these enzymes are essential for the viability of every cell. Yet, mutations in six tRNA sy
Externí odkaz:
https://doaj.org/article/1c8ff5a5c8544ffba3587694d672656c