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Proceedings of the National Academy of Sciences of the United States of America|November 25, 2010
Biguanide metformin acts on tau phosphorylation via mTOR/protein phosphatase 2A (PP2A) signalingEva Kickstein, Sybille Krauss, Paul Thornhill, et al.
Human Genetics|January 4, 2008
The Opitz syndrome gene product MID1 assembles a microtubule-associated ribonucleoprotein complexBeatriz Aranda-Orgillés, Alexander Trockenbacher, Jennifer Winter, et al.
European Journal of Medical Genetics|January 25, 2019
Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutationZoran Gucev, Velibor Tasic, Ivona Bogevska, et al.
Nature Communications|January 26, 2020
Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndromeAlexis Cooper, Tamer Butto, Niklas Hammer, et al.
European Journal of Human Genetics : EJHG|March 14, 2003
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndromeLuciana Musante, Hans G Kehl, Frank Majewski, et al.
Neuroscience Letters|March 3, 2018
Pharmacological disruption of the MID1/α4 interaction reduces mutant Huntingtin levels in primary neuronal culturesOlivia Monteiro, Changwei Chen, Ryan Bingham, et al.
BMC Genomics|January 20, 2021
Reliability of genomic variants across different next-generation sequencing platforms and bioinformatic processing pipelinesStephan Weißbach, Stanislav Sys, Charlotte Hewel, et al.
Human Mutation|June 17, 2005
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)Ilse Wieland, William Reardon, Sibylle Jakubiczka, et al.
Human Gene Therapy|April 21, 2025
Deep Intronic SVA_E Retrotransposition as a Novel Factor in Canavan Disease PathogenesisMelina Weiß, Mareike Selig, Johannes Friedrich, et al.
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