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The EMBO Journal|July 28, 2020
MiT/TFE factors control ER-phagy via transcriptional regulation of FAM134BLaura Cinque, Chiara De Leonibus, Maria Iavazzo, et al.
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.
Human Molecular Genetics|November 5, 2005
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycleDebra A Thompson, Andreas R Janecke, Jessica Lange, 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.
Clinical Genetics|November 29, 2007
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndromeA L Schulz, B Albrecht, C Arici, et al.
American Journal of Human Genetics|September 17, 2013
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunctionKatrin Koehler, Meera Malik, Saqib Mahmood, et al.
Nature|November 26, 2020
Splicing factor YBX1 mediates persistence of JAK2-mutated neoplasmsAshok Kumar Jayavelu, Tina M Schnöder, Florian Perner, et al.
Brain : a Journal of Neurology|July 17, 2023
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmissionJames Fasham, Antje K Huebner, Lutz Liebmann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2023
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorderReza Maroofian, Mina Zamani, Rauan Kaiyrzhanov, et al.
Brain : a Journal of Neurology|March 25, 2024
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticityReza Maroofian, Payam Sarraf, Thomas J O'Brien, et al.
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