Zobrazeno 1 - 10
of 66
pro vyhledávání: '"Christopher D. Stephen"'
Autor:
Joshua L. Bonkowsky, Bridget Healey, Naomi C. Sacks, Ronaé McLin, Philip L. Cyr, Eileen K. Sawyer, Christopher D. Stephen, Florian Eichler
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background Adrenomyeloneuropathy (AMN) is a neurodegenerative disease phenotype of X-linked adrenoleukodystrophy (ALD), resulting in progressive myeloneuropathy causing spastic paraparesis, sensory ataxia, and bowel/bladder symptoms. We cond
Externí odkaz:
https://doaj.org/article/73291e113afa4a17b2063bcb446e2516
Autor:
Federico Parisi, Giulia Corniani, Paolo Bonato, David Balkwill, Patrick Acuna, Criscely Go, Nutan Sharma, Christopher D. Stephen
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-14 (2024)
Abstract X-linked dystonia parkinsonism (XDP) is a neurogenetic combined movement disorder involving both parkinsonism and dystonia. Complex, overlapping phenotypes result in difficulties in clinical rating scale assessment. We performed wearable sen
Externí odkaz:
https://doaj.org/article/2ff2aa40b65b45fbbada7008e8163fb8
Autor:
Kyriakos Vattis, Brandon Oubre, Anna C. Luddy, Jessey S. Ouillon, Nicole M. Eklund, Christopher D. Stephen, Jeremy D. Schmahmann, Adonay S. Nunes, Anoopum S. Gupta
Publikováno v:
IEEE Access, Vol 12, Pp 62328-62340 (2024)
Objective, sensitive, and meaningful disease assessments are critical to support clinical trials and clinical care. Speech changes are one of the earliest and most evident manifestations of cerebellar ataxias. This work aims to develop models that ca
Externí odkaz:
https://doaj.org/article/fed821d2be4b4d1b970d54627540555b
Autor:
Neha P. Godbole, Elizabeth Haxton, Olivia E. Rowe, Joseph J. Locascio, Jeremy D. Schmahmann, Florian S. Eichler, Eva‐Maria Ratai, Christopher D. Stephen
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 1, Pp 207-224 (2024)
Abstract Objective Late‐onset GM2 gangliosidosis (LOGG) subtypes late‐onset Tay‐Sachs (LOTS) and Sandhoff disease (LOSD) are ultra‐rare neurodegenerative lysosomal storage disorders presenting with weakness, ataxia, and neuropsychiatric sympt
Externí odkaz:
https://doaj.org/article/f9c564ae46ce402cb82ebfacbdeb3e85
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Externí odkaz:
https://doaj.org/article/88bd36be29fa4b9484cc4ad3256698f4
Autor:
Maria Servito, Isha Gill, Joshua Durbin, Nader Ghasemlou, Aron-Frederik Popov, Christopher D. Stephen, Mohammad El-Diasty
Publikováno v:
Medicina, Vol 59, Iss 3, p 586 (2023)
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common heritable form of vascular dementia in adults. It is well-established that CADASIL results in neurocognitive dysfunction and mood
Externí odkaz:
https://doaj.org/article/235699119a55420192cd228475c08f44
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 4, Pp 732-748 (2021)
Abstract Objective Functional dystonia (FD) is a disabling and diagnostically challenging functional movement disorder (FMD). We sought to identify historical predictors of FD vs. other primary dystonias (ODs) and develop a practical prediction algor
Externí odkaz:
https://doaj.org/article/be878bdd9f354913b6a8f871aa979f0a
Autor:
Adonay S. Nunes, Nataliia Kozhemiako, Christopher D. Stephen, Jeremy D. Schmahmann, Sheraz Khan, Anoopum S. Gupta
Publikováno v:
Frontiers in Neurology, Vol 12 (2022)
Digital assessments enable objective measurements of ataxia severity and provide informative features that expand upon the information obtained during a clinical examination. In this study, we demonstrate the feasibility of using finger tapping video
Externí odkaz:
https://doaj.org/article/df167d395c1d4b98b807fb70a78b105a
Autor:
Reza Mohammadi-Ghazi, Hung Nguyen, Ram Kinker Mishra, Ana Enriquez, Bijan Najafi, Christopher D. Stephen, Anoopum S. Gupta, Jeremy D. Schmahmann, Ashkan Vaziri
Publikováno v:
Sensors, Vol 22, Iss 20, p 7993 (2022)
The study presents a novel approach to objectively assessing the upper-extremity motor symptoms in spinocerebellar ataxia (SCA) using data collected via a wearable sensor worn on the patient’s wrist during upper-extremity tasks associated with the
Externí odkaz:
https://doaj.org/article/296ec2f676784f83a0c16860a55c6c30
Autor:
Neha P. Godbole, Reza Sadjadi, Madeline A. DeBono, Natalie R. Grant, Daniel C. Kelly, Peter F. James, Christopher D. Stephen, M. David Balkwill, Richard F. Lewis, Florian S. Eichler
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Background: Gait and balance difficulties are among the most common clinical manifestations in adults with X-linked adrenoleukodystrophy, but little is known about the contributions of sensory loss, motor dysfunction, and postural control to gait dys
Externí odkaz:
https://doaj.org/article/939e7b4b2fb6403b8811578fe3a30268