Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Tina Nanji"'
Autor:
Aisling Carr, Tina Nanji, Mary M. Reilly, James M. Polke, Henry Houlden, Julian Blake, James Holt, Mary G. Sweeney, Jennifer Vaughan, Ana L. Pelayo-Negro, Julia Rankin, Jacob Wilson, Matilde Laura
Publikováno v:
Journal of the Peripheral Nervous System. 20:67-71
Mitofusin 2 (MFN2) mutations are the most common cause of axonal Charcot-Marie-Tooth disease (CMT2). The majority are inherited in an autosomal dominant manner but recessive and semi-dominant kindreds have also been described. We previously reported
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdfeb412b90fa45637e8620332336adf
https://doi.org/10.1111/jns.12117
https://doi.org/10.1111/jns.12117
Autor:
Niccolò E, Mencacci, Ioannis U, Isaias, Martin M, Reich, Christos, Ganos, Vincent, Plagnol, James M, Polke, Jose, Bras, Joshua, Hersheson, Maria, Stamelou, Alan M, Pittman, Alastair J, Noyce, Kin Y, Mok, Thomas, Opladen, Erdmute, Kunstmann, Sybille, Hodecker, Alexander, Münchau, Jens, Volkmann, Samuel, Samnick, Katie, Sidle, Tina, Nanji, Mary G, Sweeney, Henry, Houlden, Amit, Batla, Anna L, Zecchinelli, Gianni, Pezzoli, Giorgio, Marotta, Andrew, Lees, Paulo, Alegria, Paul, Krack, Florence, Cormier-Dequaire, Suzanne, Lesage, Alexis, Brice, Peter, Heutink, Thomas, Gasser, Steven J, Lubbe, Huw R, Morris, Pille, Taba, Sulev, Koks, Elisa, Majounie, J, Raphael Gibbs, Andrew, Singleton, John, Hardy, Stephan, Klebe, Kailash P, Bhatia, Nicholas W, Wood
Publikováno v:
Brain : a journal of neurology. 137(Pt 9)
GTP cyclohydrolase 1, encoded by the GCH1 gene, is an essential enzyme for dopamine production in nigrostriatal cells. Loss-of-function mutations in GCH1 result in severe reduction of dopamine synthesis in nigrostriatal cells and are the most common
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::10d205e2c8dbb45e00aeb58b79bbef0e
https://pubmed.ncbi.nlm.nih.gov/26012785
https://pubmed.ncbi.nlm.nih.gov/26012785
Autor:
Arianna Tucci, Henry Houlden, AB Singleton, Nicola D. MacDoanld, Tina Nanji, Tamas Revesz, Janice L. Holton, Rohan de Silva, Helen Ling, Andrew J. Lees, Kailash P. Bhatia, James M. Polke, Lucia Schottlaender, Mary G. Sweeney, Alan M. Pittman
Publikováno v:
Neurobiology of Aging
A GGGGCC repeat expansion in the C9orf72 gene was recently identified as a major cause of familial and sporadic amyotrophic lateral sclerosis and frontotemporal dementia. There is suggestion that these expansions may be a rare cause of parkinsonian d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6090cdfdd820db843350f65034fedfb3
https://doi.org/10.1016/j.neurobiolaging.2015.02.027
https://doi.org/10.1016/j.neurobiolaging.2015.02.027
Autor:
Matilde Laura, Bryan Lecky, Julia Rankin, J. Vaughan, Aisling Carr, Mary M. Reilly, A.L. Pelayo, James M. Polke, J Wilson, Tina Nanji, M.G. Sweeny
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 85:e4.80-e4
Background Mitofusion 2 (MFN2) mutations are the most common cause of axonal Charcot-Marie-Tooth disease (CMT2). The majority are inherited in an autosomal dominant manner but recessive and semidominant kindreds have been described. We previously rep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::19473d54f6cef064ad59a7e038802bf9
https://doi.org/10.1136/jnnp-2014-309236.170
https://doi.org/10.1136/jnnp-2014-309236.170