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Molecular Genetics and Metabolism|June 6, 2022
Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1)Andrea Gangfuß, Andreas Hentschel, Lorena Heil, et al.
Brain Pathology (Zurich, Switzerland)|March 3, 2026
A muscular dystrophy associated with bi-allelic LEMD2 variants: Expanding the genotype of nuclear envelopathiesMarc Pauper, Heike Kölbel, Iakowos Karakesisoglou, et al.
Cell Death and Differentiation|June 17, 2017
The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteinsAlice Dreser, Jan Tilmann Vollrath, Antonio Sechi, et al.
Molecular Neurobiology|January 24, 2023
A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome FunctionAndreas Hentschel, Nancy Meyer, Nicolai Kohlschmidt, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 17, 2018
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth diseaseManisha Juneja, Abdelkrim Azmi, Jonathan Baets, et al.
Molecular Therapy. Nucleic Acids|September 17, 2018
Comprehensive RNA-Sequencing Analysis in Serum and Muscle Reveals Novel Small RNA Signatures with Biomarker Potential for DMDAnna M L Coenen-Stass, Helena Sork, Sole Gatto, et al.
Neurology|May 4, 2018
Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo <i>PTEN</i> mutationBoglarka Bansagi, Vietxuan Phan, Mark R Baker, et al.
RNA Biology|April 7, 2022
Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insightsAndrea C Kakouri, Demetris Koutalianos, Andrie Koutsoulidou, et al.
Journal of Neurology|December 16, 2024
Giant axonal neuropathy (GAN): cross-sectional data on phenotypes, genotypes, and proteomic signature from a German cohortAndrea Gangfuß, Guido Goj, Silke Polz, et al.
Cells|May 13, 2023
Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality SystemsDominik Sellung, Lorena Heil, Nassam Daya, et al.
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