Impaired kidney structure and function in spinal muscular atrophy FC Nery, JJ Siranosian, I Rosales, MO Deguise, A Sharma, AW Muhtaseb, ... Neurology: Genetics 5 (5), e353, 2019 | 42 | 2019 |
Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c. 500A> T missense mutation A Ververis, R Dajani, P Koutsou, A Aloqaily, C Nelson-Williams, E Loring, ... Journal of Medical Genetics 57 (3), 178-186, 2020 | 15 | 2020 |