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

Míreanna Comhchosúla

• Identification of ATP1A3 Mutations by Exome Sequencing as the Cause of Alternating Hemiplegia of Childhood in Japanese Patients
  le: Ishii, Atsushi, et al.
  Foilsithe: (2013)
• Adult Polyglucosan Body Disease with GBE1 Haploinsufficiency and Concomitant Frontotemporal Lobar Degeneration
  le: Bit-Ivan, Esther N., et al.
  Foilsithe: (2014)
• A Homozygous LAMA2 Mutation of c.818G＞A Caused Partial Merosin Deficiency in a Japanese Patient
  le: Kubota, Akatsuki, et al.
  Foilsithe: (2017)
• A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia
  le: Kurihara, Masanori, et al.
  Foilsithe: (2019)
• GAB2 is not associated with late-onset Alzheimer's disease in Japanese
  le: Miyashita, Akinori, et al.
  Foilsithe: (2009)