Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Nicholas F. Blair"'
Autor:
Gautam Wali, Erandhi Liyanage, Nicholas F. Blair, Ratneswary Sutharsan, Jin-Sung Park, Alan Mackay-Sim, Carolyn M. Sue
Publikováno v:
Frontiers in Neuroscience, Vol 14 (2020)
Hereditary spastic paraplegia (HSP) is a group of inherited disorders characterized by progressive spasticity and paralysis of the lower limbs. Autosomal dominant mutations in SPAST gene account for ∼40% of adult-onset patients. We have previously
Externí odkaz:
https://doaj.org/article/80b5c527c6884da192ed4da05652fedf
Autor:
Jin-Sung Park, Ratneswary Sutharsan, Nicholas F. Blair, Carolyn M. Sue, Alan Mackay-Sim, Gautam Wali, Erandhi Liyanage
Publikováno v:
Frontiers in Neuroscience, Vol 14 (2020)
Hereditary spastic paraplegia (HSP) is a group of inherited disorders characterized by progressive spasticity and paralysis of the lower limbs. Autosomal dominant mutations in SPAST gene account for ∼40% of adult-onset patients. We have previously
Publikováno v:
Neural Regeneration Research, Vol 12, Iss 3, Pp 389-392 (2017)
Neural Regeneration Research
Neural Regeneration Research
Parkinson's disease (PD) is a neurodegenerative condition which causes a characteristic movement disorder secondary to loss of dopaminergic neurons in the substanitia nigra. The motor disorder responds well to dopamine-replacement therapies, though t
Autor:
Gautam, Wali, Erandhi, Liyanage, Nicholas F, Blair, Ratneswary, Sutharsan, Jin-Sung, Park, Alan, Mackay-Sim, Carolyn M, Sue
Publikováno v:
Frontiers in Neuroscience
Hereditary spastic paraplegia (HSP) is a group of inherited disorders characterized by progressive spasticity and paralysis of the lower limbs. Autosomal dominant mutations in SPAST gene account for ∼40% of adult-onset patients. We have previously
Autor:
Glyn Stacey, Nick Medcalf, Alison Wilson, Zoe Hewitt, Maurice A. Canham, Julian Braybrook, Damian Marshall, Louis Masi, Ivan Wall, Florence Bietrix, Ioannis Bantounas, Loriana Vitillio, Jonathan Campbell, Mathilde Girard, Anne L. Plant, Gabor Foldes, Yvonne Reinwald, Roger A. Barker, Mark J.S. McCall, Jamie A. Thurman-Newell, Nina Kotsopoulou, Ricardo Baptista, Ying Yang, Conor J. McCann, Rudy Gilmanshin, Johan Hyllner, Dave Thomas, Helen Jesson, Jacqueline Wolfrum, Harry Moore, Marc Turner, Nicholas F Blair, Julie Kerby, David Pan, Jacqueline Barry, Paul C. Hourd, Erwin Gorjup, Stanley Kowalski, Amit Chandra, Chris Leidel, Robert Thomas, David J. Williams, Heiko Zimmerman, Sujith Sebastian, Jasmin Kee, Malin Parmar, Hiroki Ozawa, J. Richard Archer, Peter R.T. Archibald
Publikováno v:
Regenerative Medicine
© 2016 Future Medicine Ltd.This paper summarizes the proceedings of a workshop held at Trinity Hall, Cambridge to discuss comparability and includes additional information and references to related information added subsequently to the workshop. Com
Publikováno v:
Movement Disorders. 30:770-779
The importance of ATP13A2 (PARK9) in Parkinson's disease (PD) has emerged with the discovery that mutations in this gene cause Kufor-Rakeb syndrome, an autosomal recessive, juvenile-onset form of parkinsonism associated with the additional clinical t
Autor:
Roger A. Barker, Nicholas F Blair
Publikováno v:
Regenerative Medicine. 11:423-425
Publikováno v:
Advances in experimental medicine and biology. 1007
Chronic tissue and organ failure caused by an injury, disease, ageing or congenital defects represents some of the most complex therapeutic challenges and poses a significant financial healthcare burden. Regenerative medicine strategies aim to fulfil
Publikováno v:
Advances in Experimental Medicine and Biology ISBN: 9783319607313
Chronic tissue and organ failure caused by an injury, disease, ageing or congenital defects represents some of the most complex therapeutic challenges and poses a significant financial healthcare burden. Regenerative medicine strategies aim to fulfil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7dc87bbb4d81427c22f740f3fdc71896
https://doi.org/10.1007/978-3-319-60733-7_12
https://doi.org/10.1007/978-3-319-60733-7_12
Publikováno v:
Practical Neurology. 15:45-48
Urea cycle disorders are inborn errors of metabolism that, in rare cases, can present for the first time in adulthood. We report a perplexing presentation in a woman 4 days postpartum of bizarre and out-of-character behaviour interspersed with period