Results 171 to 176 of about 1,568 (176)

An exon trap with proper poly-A site in the GBE1 is the common missing cause in Adult Polyglucosan Body Disease (S42.006)

Neurology, 2015
Orhan H. Akman, Or Kakhlon, Jorida Coku, Lorenzo Peverelli, Hanna Rosenmann, Lea Rozenstein-Tsalkovich, Julie Turnbull, Vardiella Meiner, Liat Chama, Israela Lerer, Shoshi Shpitzen, Eran Leitersdorf, Carmen Paradas Lopez, Mary Wallace, Raphael Schiffmann, Salvatore DiMauro, Alexander Lossos, Berge Minassian   +17 more
openaire   +1 more source

Polyglucosan bodies in intramuscular nerve branches are a poor predictor of GBE1 mutation and adult polyglucosan body disease

Muscle and Nerve, 2016
Larissa V Furtado, Sabah Kadri, Bradley C Long   +2 more
exaly  

Novel GBE1 mutation in a Japanese family with adult polyglucosan body disease

Neurology: Genetics, 2017
Takashi Matsukawa, Hiroyuki Ishiura, Jun Mitsui   +2 more
exaly  

Compound heterozygosis of a splice site and the common Ashkenazi Jewish mutation in GBE1 causes adult onset polyglucosan body disease. (P2.026)

Neurology, 2015
Orhan H. Akman, Yasemin Kurt, Mary Wallace, Raphael Schiffmann, Salvatore DiMauro   +4 more
openaire   +1 more source

Identification of Novel and Recurrent Variants in BTD, GBE1, AGL and ASL Genes in Families with Metabolic Disorders in Saudi Arabia

Journal of Clinical Medicine
Muhammad Latif, Jamil Amjad Hashmi, Abdulfatah M Alayoubi   +2 more
exaly  

Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of Andersen Disease associated with a new mutation in GBE1 gene

2006
Costanza Lamperti, Sabrina Salani, Gigliola Fagiolari, Elisa Fruguglietti, Nadia Grimoldi, Alessandro Prelle, Andreina Bordoni, Michela Ripolone, Veronica Crugnola, Nereo Bresolin, Giacomo Pietro Comi   +10 more
openaire   +1 more source