Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Pravin Khemani"'
Autor:
Heather Fielding-Gebhardt, Shannon E. Kelly, Kathryn E. Unruh, Lauren M. Schmitt, Stormi L. Pulver, Pravin Khemani, Matthew W. Mosconi
Publikováno v:
Frontiers in Human Neuroscience, Vol 17 (2023)
Aging FMR1 premutation carriers are at risk of developing neurodegenerative disorders, including fragile X-associated tremor/ataxia syndrome (FXTAS), and there is a need to identify biomarkers that can aid in identification and treatment of these dis
Externí odkaz:
https://doaj.org/article/73a9bf28742f444cbf407b716395348c
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-13 (2019)
Abstract Background Individuals with premutation alleles of the fragile X mental retardation 1 (FMR1) gene are at risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS) during aging. Characterization of motor issues associated with ag
Externí odkaz:
https://doaj.org/article/2f089908c71348c9b1f24f747f009e73
Autor:
Meagen R. Salinas, Elizabeth J. Chambers, Travis Ho, Pravin Khemani, DaiWai M. Olson, Sonja Stutzman, Shilpa Chitnis
Publikováno v:
Clinical Parkinsonism & Related Disorders, Vol 3, Iss , Pp 100038- (2020)
Background: As the 2nd most common neurodegenerative disorder, Parkinson's disease (PD) affects over 1 million Americans. Treatment is complex and may include pharmacotherapy, rehabilitative measures, and surgical intervention. A comprehensive unders
Externí odkaz:
https://doaj.org/article/8a2c81c752cd4d3ab47613393f68cc4e
Autor:
Walker S. McKinney, James Bartolotti, Pravin Khemani, Jun Yi Wang, Randi J. Hagerman, Matthew W. Mosconi
Publikováno v:
NeuroImage: Clinical, Vol 27, Iss , Pp 102332- (2020)
Introduction: Premutation carriers of the FMR1 gene are at risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disease characterized by motor, cognitive, and psychiatric decline as well as cerebellar and cerebr
Externí odkaz:
https://doaj.org/article/9b35238d39f44a789e32a2c1ed811579
Autor:
Walker S. McKinney, Zheng Wang, Shannon Kelly, Pravin Khemani, Su Lui, Stormi P. White, Matthew W. Mosconi
Publikováno v:
Frontiers in Integrative Neuroscience, Vol 13 (2019)
BackgroundIndividuals with premutation alleles of the FMR1 gene are at risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative condition affecting sensorimotor function. Information on quantitative symptom traits a
Externí odkaz:
https://doaj.org/article/85a41bb191b541d3b9bafed6a7726bfb
Autor:
Zheng Wang, Callie Lane, Matthew Terza, Pravin Khemani, Su Lui, Walker S. McKinney, Matthew W. Mosconi
Publikováno v:
Brain Sciences, Vol 11, Iss 1, p 13 (2020)
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder associated with a premutation cytosine-guanine-guanine (CGG) trinucleotide repeat expansion of the FMR1 gene. FXTAS is estimated to be the most common single-gene for
Externí odkaz:
https://doaj.org/article/7de2833889b24db6b326dfbaee9792af
Metastatic 'Burned Out' Seminoma Causing Neurological Paraneoplastic Syndrome—Not Quite 'Burned Out'
Publikováno v:
Frontiers in Neurology, Vol 9 (2018)
A 44-year-old man presented with cerebellar ataxia and limbic encephalitis and was ultimately diagnosed with metastatic germ cell neoplasm resulting from a “burned out” primary testicular tumor. The patient had progressive ataxia, leading to a th
Externí odkaz:
https://doaj.org/article/765f961a569e45049b4d2165e2b55c6c
Autor:
Richard B Dewey, Padraig E O'Suilleabhain, Manjit Sanghera, Neepa Patel, Pravin Khemani, Laura H Lacritz, Shilpa Chitnis, Louis A Whitworth
Publikováno v:
PLoS ONE, Vol 11, Iss 10, p e0164154 (2016)
To develop a process to improve patient outcomes from deep brain stimulation (DBS) surgery for Parkinson disease (PD), essential tremor (ET), and dystonia.We employed standard quality improvement methodology using the Plan-Do-Study-Act process to imp
Externí odkaz:
https://doaj.org/article/4f461b5b340546b6ad4f492065c9c09c
Autor:
Vibhor Krishna, Paul S. Fishman, Howard M. Eisenberg, Michael Kaplitt, Gordon Baltuch, Jin Woo Chang, Wei-Chieh Chang, Raul Martinez Fernandez, Marta del Alamo, Casey H. Halpern, Pejman Ghanouni, Roberto Eleopra, Rees Cosgrove, Jorge Guridi, Ryder Gwinn, Pravin Khemani, Andres M. Lozano, Nathan McDannold, Alfonso Fasano, Marius Constantinescu, Ilana Schlesinger, Arif Dalvi, W. Jeff Elias
Publikováno v:
New England Journal of Medicine. 388:683-693
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::68fdc42089aee42011754f58d0aae207
https://doi.org/10.1056/nejmoa2202721
https://doi.org/10.1056/nejmoa2202721
Publikováno v:
The Journal for Nurse Practitioners. 18:848-851
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1b4e1646dec01b67a21fb0dddbaaa7e3
https://doi.org/10.1016/j.nurpra.2022.05.019
https://doi.org/10.1016/j.nurpra.2022.05.019