Results 181 to 185 of about 1,629 (185)

Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles)

Neuromuscular Disorders, 2013
Madoka Mori-Yoshimura, Satoru Noguchi, Ichizo Nishino   +2 more
exaly  

GNE myopathy associated with congenital thrombocytopenia: A report of two siblings

Neuromuscular Disorders, 2014
Tetsuya Niihori, Naoki Suzuki, Yoji Sasahara   +2 more
exaly  

Genotype-phenotype correlation analysis in GNE myopathy

Neuromuscular Disorders, 2017
O. Pogoryelova, P. Cammish, H. Mansbach, H. Lochmüller   +3 more
openaire   +1 more source

Mutations spectrum ofGNE in hereditary inclusion body myopathy sparing the quadriceps

Human Mutation, 2003
Hagit Hochner, Luciano Merlini, Stella Mitrani-Rosenbaum   +2 more
exaly  

Gene symbol: GNE. Disease: Inclusion body myopathy.

Human genetics, 2008
Bruno C, GRANDIS, MARINA, Cassandrini D, BELLONE, EMILIA, MANDICH, PAOLA, GULLI, ROSSELLA   +5 more
openaire   +2 more sources