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The Journal of Clinical Investigation|March 23, 2021
GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylationPatricia Franzka, Henriette Henze, M Juliane Jung, et al.Advanced Science (Weinheim, Baden-Wurttemberg, Germany)|November 21, 2025
REEP1 Accumulation Disrupts ER Integrity and Drives Spinal Motoneuron Degeneration in Distal Hereditary Motor NeuropathyAndrea Bock, Mona Schurig, Miles Willoughby, et al.Journal of Neurochemistry|September 14, 2017
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathiesMaike F Dohrn, Nicola Glöckle, Lejla Mulahasanovic, et al.Nature Genetics|May 26, 2015
Transcriptional regulator PRDM12 is essential for human pain perceptionYa-Chun Chen, Michaela Auer-Grumbach, Shinya Matsukawa, et al.Pageof 6