Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia
Titel:
Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia
Auteur:
Gkazi, Soragia Athina Troakes, Claire Topp, Simon Miller, Jack W. Vance, Caroline A. Sreedharan, Jemeen Al-Chalabi, Ammar Kirby, Janine Shaw, Pamela J. Al-Sarraj, Safa King, Andrew Smith, Bradley N. Shaw, Christopher E.