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Journal of Neuropathology and Experimental Neurology|January 30, 2016
Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species ComparisonsMichael W Lawlor, Alan H Beggs, Ana Buj-Bello, et al.
The Journal of Clinical Investigation|June 19, 2012
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemiaVijay G Sankaran, Roxanne Ghazvinian, Ron Do, et al.
BMC Neurology|October 21, 2011
Decreased brain venous vasculature visibility on susceptibility-weighted imaging venography in patients with multiple sclerosis is related to chronic cerebrospinal venous insufficiencyRobert Zivadinov, Guy U Poloni, Karen Marr, et al.
Journal of Medical Genetics|November 1, 1993
Dystrophin analysis in idiopathic dilated cardiomyopathyV V Michels, G M Pastores, P P Moll, et al.
Journal of Magnetic Resonance Imaging : JMRI|November 12, 2013
Aqueductal cerebrospinal fluid pulsatility in healthy individuals is affected by impaired cerebral venous outflowClive B Beggs, Christopher Magnano, Simon J Shepherd, et al.
Elife|October 14, 2017
RNA polymerase II stalling at pre-mRNA splice sites is enforced by ubiquitination of the catalytic subunitLaura Milligan, Camille Sayou, Alex Tuck, et al.
Human Molecular Genetics|February 24, 2018
SPEG-deficient skeletal muscles exhibit abnormal triad and defective calcium handlingVirginia Huntoon, Jeffrey J Widrick, Colline Sanchez, et al.
Nature Plants|April 3, 2019
Control of meristem determinacy by trehalose 6-phosphate phosphatases is uncoupled from enzymatic activityHannes Claeys, Son Lang Vi, Xiaosa Xu, et al.
Muscle & Nerve|September 27, 2016
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathyPaulomi Mehta, Melanie Küspert, Tejus Bale, et al.
JAMA Neurology|September 30, 2014
Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findingsPankaj B Agrawal, Mugdha Joshi, Nicholas S Marinakis, et al.
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