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Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 1, 2019
A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblingsFangning Gu, Anchi Wu, M Grace Gordon, et al.Neurology|December 21, 2014
DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorderNicole I Wolf, Camilo Toro, Ilya Kister, et al.Annals of Clinical and Translational Neurology|July 8, 2014
Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11Benoît Renvoisé, Jaerak Chang, Rajat Singh, et al.JCI Insight|March 5, 2019
PARP1 inhibition alleviates injury in ARH3-deficient mice and human cellsMasato Mashimo, Xiangning Bu, Kazumasa Aoyama, et al.Toxicon : Official Journal of the International Society on Toxinology|July 28, 2019
Botulinum toxin and occupational therapy for Writer's crampJung E Park, Ejaz A Shamim, Pattamon Panyakaew, et al.American Journal of Medical Genetics. Part A|August 12, 2016
Phenotypic evolution of UNC80 loss of functionElise Valkanas, Katherine Schaffer, Christopher Dunham, et al.Annals of Clinical and Translational Neurology|April 1, 2020
Neurological manifestations of Erdheim-Chester DiseaseLouisa C Boyd, Kevin J O'Brien, Neval Ozkaya, et al.Translational Research : the Journal of Laboratory and Clinical Medicine|November 14, 2018
Glycomics in rare diseases: from diagnosis tomechanismMariska Davids, Megan S Kane, Lynne A Wolfe, et al.Muscle & Nerve|January 3, 2021
Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studiesTanya Lehky, Reversa Joseph, Camilo Toro, et al.Journal of Clinical Medicine|March 8, 2020
Conventional and Unconventional Therapeutic Strategies for Sialidosis Type IRosario Mosca, Diantha van de Vlekkert, Yvan Campos, et al.Pageof 16