Related content

Valosin-Containing Protein Gene Mutations: Cellular Phenotypes Relevant to Neurodegeneration

By Poksay Karen   Madden David   Peter Anna   Niazi Kayvan   Banwait Surita   Crippen Danielle   Bredesen Dale   Rao Rammohan  

Journal of Molecular Neuroscience, Vol. 44, Iss. 2, 2011-06 ,pp. : 91-102

Humana Press, Inc

Access to resources Recommend Favorite

Two pathogenic mutations in the mitochondrial DNA tRNA Leu(UUR) gene (T3258C and A3280G) resulting in variable clinical phenotypes

By Campos Y.   Garca A.   del Hoyo P.   Jara P.   Martn M.A.   Rubio J.C.   Berbel A.   Barbera J.R.   Ribacoba R.   Astudillo A.   Cabello A.   Ricoy J.R.   Arenas J.  

Neuromuscular Disorders, Vol. 13, Iss. 5, 2003-06 ,pp. : 416-420

Elsevier

Access to resources Recommend Favorite

Cellular characterization of mutations presenting with diverse clinical phenotypes

By Lee Yi-Chung   Lin Kon-Ping   Chang Ming-Hong   Liao Yi-Chu   Tsai Ching-Piao   Liao Kwong-Kum   Soong Bing-Wen  

Journal of Neurology, Vol. 257, Iss. 10, 2010-10 ,pp. : 1661-1668

Springer Publishing Company

Access to resources Recommend Favorite

Mutations in progranulin explain atypical phenotypes with variants in MAPT

By Pickering-Brown Stuart M.   Baker Matt   Gass Jenny   Boeve Bradley F.   Loy Clement T.   Brooks William S.   Mackenzie Ian R. A.   Martins Ralph N.   Kwok John B. J.   Halliday Glenda M.   Kril Jillian   Schofield Peter R.   Mann David M. A.   Hutton Mike  

Brain, Vol. 129, Iss. 11, 2006-11 ,pp. : 3124-3126

Oxford University Press

Access to resources Recommend Favorite

Alzheimers disease phenotypes and genotypes associated with mutations in presenilin 2

By Jayadev Suman  

Brain, Vol. 133, Iss. 4, 2010-04 ,pp. : 1143-1154

Oxford University Press

Access to resources Recommend Favorite