Zobrazeno 1 - 10
of 283
pro vyhledávání: '"Kenneth H Fischbeck"'
Autor:
Salia Bamba, Lala Sidibé, Seybou H. Diallo, Lassana Cissé, Kékouta Dembélé, Abdoulaye Yalcouyé, Weizhen Ji, Mohamed Emile Dembélé, Salimata Diarra, Alassane dit Baneye Maiga, Oumou Traoré, Salimata Diallo, Samuel Ephrata Mefoung, Amadou Touré, Adama Koné, Lauren Jeffries, Cheick O. Guinto, Emily K. Mis, Kenneth H. Fischbeck, Mustafa K. Khokha, Saquib A. Lakhani, Guida Landouré
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Background and ObjectivesDevelopmental and epileptic encephalopathies (DEEs) are a group of neurological disorders characterized by early-onset seizures that are often resistant to treatment, by electroencephalographic abnormalities, and by developme
Externí odkaz:
https://doaj.org/article/79262882c788440abcc222bde68735db
Autor:
Lassana Cissé, Salia Bamba, Seybou H. Diallo, Weizhen Ji, Mohamed Emile Dembélé, Abdoulaye Yalcouyé, Toumany Coulibaly, Ibrahima Traoré, Lauren Jeffries, Salimata Diarra, Alassane Dit Baneye Maiga, Salimata Diallo, Karamoko Nimaga, Amadou Touré, Oumou Traoré, Mahamadou Kotioumbé, Emily Kathryn Mis, Cheick Abdel Kader Cissé, Cheick Oumar Guinto, Kenneth H. Fischbeck, Mustafa K. Khokha, Saquib A. Lakhani, Guida Landouré
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Background and objectivesProgressive myoclonic epilepsy (PME) is a group of neurological disorders characterized by recurrent myoclonic seizures with progressive neurological deterioration. We investigated the genetics of three unrelated patients wit
Externí odkaz:
https://doaj.org/article/2f06178a951d433697e9b4b8e1fc5ee1
Autor:
Salimata Diarra, Saikat Ghosh, Lassana Cissé, Thomas Coulibaly, Abdoulaye Yalcouyé, George Harmison, Salimata Diallo, Seybou H. Diallo, Oumar Coulibaly, Alice Schindler, Cheick A.K. Cissé, Alassane B. Maiga, Salia Bamba, Oumar Samassekou, Mustafa K. Khokha, Emily K. Mis, Saquib A. Lakhani, Frank X. Donovan, Steve Jacobson, Craig Blackstone, Cheick O. Guinto, Guida Landouré, Juan S. Bonifacino, Kenneth H. Fischbeck, Christopher Grunseich
Publikováno v:
Neurobiology of Disease, Vol 198, Iss , Pp 106537- (2024)
Hereditary spastic paraplegia (HSP) comprises a large group of neurogenetic disorders characterized by progressive lower extremity spasticity. Neurological evaluation and genetic testing were completed in a Malian family with early-onset HSP. Three c
Externí odkaz:
https://doaj.org/article/ae7527cfc144494db6ca02e0b1ec3625
Autor:
William W Motley, Kevin L Seburn, Mir Hussain Nawaz, Kathy E Miers, Jun Cheng, Anthony Antonellis, Eric D Green, Kevin Talbot, Xiang-Lei Yang, Kenneth H Fischbeck, Robert W Burgess
Publikováno v:
PLoS Genetics, Vol 7, Iss 12, p e1002399 (2011)
Charcot-Marie-Tooth disease type 2D (CMT2D) is a dominantly inherited peripheral neuropathy caused by missense mutations in the glycyl-tRNA synthetase gene (GARS). In addition to GARS, mutations in three other tRNA synthetase genes cause similar neur
Externí odkaz:
https://doaj.org/article/3a30937c11844b639965d96dddbb760a
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:
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:
Abdoulaye, Bocoum, Toumany, Coulibaly, Madani, Ouologuem, Lassana, Cissé, Seybou H, Diallo, Boubacar B, Maiga, Kékouta, Dembélé, Salimata, Diallo, Souleymane Dit Papa, Coulibaly, Fousseyni, Kané, Thomas, Coulibaly, Dramane, Coulibaly, Abdoulaye, Taméga, Abdoulaye, Yalcouyé, Salimata, Diarra, Mohamed E, Dembélé, Alassane B, Maiga, Cheick A K, Cissé, Oumou, Traoré, Kenneth H, Fischbeck, Cheick O, Guinto, Youssoufa, Maiga, Guida, Landouré
Publikováno v:
Journal of Huntington's Disease. 11:195-201
Background: Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder caused by mutation in the HTT gene and characterized by involuntary movements as well as cognitive and behavioral impairment. Since its first description 150
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25a93946c0da89ba8ee564abeb982a89
https://doi.org/10.3233/jhd-220529
https://doi.org/10.3233/jhd-220529