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Keywords: Ataxia
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Journal Articles
Journal:
Disease Models & Mechanisms
Dis Model Mech (2024) 17 (6): dmm050379.
Published: 12 June 2024
...Luis E. Salazar Leon; Amanda M. Brown; Heet Kaku; Roy V. Sillitoe ABSTRACT Purkinje cell dysfunction disrupts movement and causes disorders such as ataxia. Recent evidence suggests that Purkinje cell dysfunction may also alter sleep regulation. Here, we used an ataxic mouse model generated...
Includes: Supplementary data
Journal Articles
David Mengel, Isabel G. Wellik, Kristen H. Schuster, Sabrina I. Jarrah, Madeleine Wacker, Naila S. Ashraf, Gülin Öz, Matthis Synofzik, Maria do Carmo Costa, Hayley S. McLoughlin
Journal:
Disease Models & Mechanisms
Dis Model Mech (2023) 16 (9): dmm050144.
Published: 4 September 2023
... interest as a biomarker across neurodegenerative diseases. In spinocerebellar ataxia type 3 (SCA3), the most common dominantly inherited ataxia, patients exhibit progressive NfL increases in peripheral blood when becoming symptomatic, and NfL remains stably elevated throughout further disease course...
Includes: Supplementary data
Journal Articles
In collection:
Neurodegenerative Disorders
Kristin Mayoral-Palarz, Andreia Neves-Carvalho, Sara Duarte-Silva, Daniela Monteiro-Fernandes, Patrícia Maciel, Kamran Khodakhah
Journal:
Disease Models & Mechanisms
Dis Model Mech (2022) 15 (8): dmm049514.
Published: 5 August 2022
...Kristin Mayoral-Palarz; Andreia Neves-Carvalho; Sara Duarte-Silva; Daniela Monteiro-Fernandes; Patrícia Maciel; Kamran Khodakhah ABSTRACT Spinocerebellar ataxia type 3 (SCA3) is an adult-onset, progressive ataxia. SCA3 presents with ataxia before any gross neuropathology. A feature of many...
Includes: Supplementary data
Journal Articles
In collection:
Neurodegenerative Disorders
Journal:
Disease Models & Mechanisms
Dis Model Mech (2021) 14 (6): dmm044834.
Published: 24 June 2021
...Thomas P. Zwaka; Marta Skowronska; Ronald Richman; Marion Dejosez ABSTRACT Spinocerebellar ataxias (SCAs) are a group of genetically heterogeneous inherited neurodegenerative disorders characterized by progressive ataxia and cerebellar degeneration. Here, we used a mouse model to test a possible...
Includes: Supplementary data
Journal Articles
In collection:
Neurodegenerative Disorders
Karla P. Figueroa, Sharan Paul, Tito Calì, Raffaele Lopreiato, Sukanya Karan, Martina Frizzarin, Darren Ames, Ginevra Zanni, Marisa Brini, Warunee Dansithong, Brett Milash, Daniel R. Scoles, Ernesto Carafoli, Stefan M. Pulst
Journal:
Disease Models & Mechanisms
Dis Model Mech (2016) 9 (5): 553–562.
Published: 1 May 2016
... of progressive Purkinje cell (PC) degeneration exhibiting a shaking ataxia and wide stance. Generation of Wistar Furth (WF)/Brown Norwegian (BN) F1 hybrids and genetic mapping of F2 sib-sib offspring using polymorphic markers narrowed the candidate gene region to 26 Mbp denoted by the last recombinant genetic...
Includes: Supplementary data