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American Journal of Medical Genetics. Part A|December 23, 2017
Prader-Willi syndrome and early-onset morbid obesity NIH rare disease consortium: A review of natural history studyMerlin G Butler, Virginia Kimonis, Elisabeth Dykens, et al.
American Journal of Medical Genetics. Part A|April 4, 2017
Oxytocin treatment in children with Prader-Willi syndrome: A double-blind, placebo-controlled, crossover studyJennifer L Miller, Roy Tamura, Merlin G Butler, et al.
American Journal of Medical Genetics. Part A|June 22, 2019
Birth seasonality studies in a large Prader-Willi syndrome cohortMerlin G Butler, Virginia Kimonis, Elisabeth Dykens, et al.
Molecular Genetics and Metabolism Reports|November 8, 2021
Prevalence of cerebral small vessel disease in a Fabry disease cohortDaisy Tapia, David Floriolli, Eric Han, et al.
Pediatrics|December 10, 2014
Growth charts for non-growth hormone treated Prader-Willi syndromeMerlin G Butler, Jaehoon Lee, Ann M Manzardo, et al.
Neurology. Genetics|August 13, 2019
New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathySejad Al-Tahan, Lan Weiss, Howard Yu, et al.
Neuromuscular Disorders : NMD|August 12, 2018
A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein geneJake Plewa, Abhilasha Surampalli, Marie Wencel, et al.
Autophagy|January 28, 2010
VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFDEmilie Tresse, Florian A Salomons, Jouni Vesa, et al.
Neuromuscular Disorders : NMD|April 2, 2022
Safety and effectiveness of resistance training in patients with late onset Pompe disease - a pilot studyCaleb Bhatnagar, Jeet Shah, Bhumi Ramani, et al.
Genes|March 29, 2023
Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1Rod Carlo Agram Columbres, Yue Chin, Sanjana Pratti, et al.
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