Frank Ruffenach

Differentially expressed isoforms of the mouse retinoic acid receptor beta generated by usage of two promoters and alternative splicing.

Arthur Zelent, Cathy Mendelsohn, Philippe Kastner et al. · The EMBO Journal · 1991 · 387 citations · Full text

Transcriptional Regulation, Molecular Physiology, Signal Transduction +10

Loss of C9 <scp>ORF</scp> 72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death

Chantal Sellier, Maria‐Letizia Campanari, Camille Corbier et al. · The EMBO Journal · 2016 · 385 citations · Full text

Cell Autophagy, Mitophagy, Neurodegenerative Diseases +12

Sequestration of DROSHA and DGCR8 by Expanded CGG RNA Repeats Alters MicroRNA Processing in Fragile X-Associated Tremor/Ataxia Syndrome

Chantal Sellier, Fernande Freyermuth, Ricardos Tabet et al. · Cell Reports · 2013 · 253 citations · Full text

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome

Chantal Sellier, Ronald A.M. Buijsen, Fang He et al. · Neuron · 2017 · 232 citations · Full text

Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: The polyG diseases

Manon Boivin, Jianwen Deng, Véronique Pfister et al. · Neuron · 2021 · 143 citations · Full text