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Clinical and Translational Medicine|December 8, 2025
Antisense oligonucleotides targeting valosin-containing protein ameliorate muscle pathology and molecular defects in cell and mouse models of multisystem proteinopathyPallabi Pal, Michele Carrer, Lan Weiss, et al.
Annals of Neurology|November 30, 2005
Progressive cavitating leukoencephalopathy: a novel childhood diseaseSakkuBai Naidu, Genila Bibat, Doris Lin, et al.
Biorxiv : the Preprint Server for Biology|March 11, 2024
Skeletal muscle effects of antisense oligonucleotides targeting glycogen synthase 1 in a mouse model of Pompe diseaseLan Weiss, Michele Carrer, Alyaa Shmara, et al.
American Journal of Medical Genetics. Part A|July 17, 2010
Double-blind therapeutic trial in Angelman syndrome using betaine and folic acidSarika U Peters, Lynne M Bird, Virginia Kimonis, et al.
Clinical and Translational Medicine|April 23, 2025
Skeletal muscle effects of antisense oligonucleotides targeting glycogen synthase 1 in a mouse model of Pompe diseaseLan Weiss, Michele Carrer, Alyaa Shmara, et al.
American Journal of Human Genetics|April 3, 2012
Primate genome gain and loss: a bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcriptsOlga Camacho-Vanegas, Sandra Catalina Camacho, Jacob Till, et al.
Orphanet Journal of Rare Diseases|January 30, 2022
Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathyManisha Korb, Allison Peck, Lindsay N Alfano, et al.
American Journal of Human Genetics|March 1, 2016
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow SyndromeJanson J White, Juliana F Mazzeu, Alexander Hoischen, et al.
Journal of Medical Genetics|January 17, 2014
A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndromeTaraneh Esmailpour, Hamidreza Riazifar, Linan Liu, et al.
Annals of Clinical and Translational Neurology|April 7, 2023
Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathyBhaskar Roy, Allison Peck, Teresinha Evangelista, et al.
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