Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4.
J. Med. Genet., Nov;47(11):786-90 (2010)
SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experience.
Amyotroph Lateral Scler., Feb;13(2):217-22 (2012)
A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System.
Am. J. Hum. Genet., Jul;91(1):202-8 (2012)
Erlenmeyer flasking of a child's bones: a diagnostic puzzle.
Am J. Orthop., Aug;34(8):393-5 (2005)
Efficacy of lamotrigine in disabling myoclonus in a patient with an mtDNA A3243G mutation.
Neurology., Apr;72(14):1279-80 (2009)
Myocardial blood flow and oxygen consumption in patients with Friedreich's ataxia prior to the onset of cardiomyopathy.
Coron. Artery Dis., Feb;18(1):15-22 (2007)
Adult onset leukodystrophy with neuroaxonal spheroids: clinical, neuroimaging and neuropathologic observations.
Brain Pathol., Jan;19(1):39-47 (2009)
A plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cells.
Proc. Natl. Acad. Sci. U.S.A., Jan;107(4):1571-5 (2010)
Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes.
Amyotroph. Lateral Scler. Other Motor Neuron Disord., Jun;4(2):62-73 (2003)
Effect of sample collection on alpha-galactosidase A enzyme activity measurements in dried blood spots on filter paper.
Clin. Chim. Acta., May;403(1-2):159-62 (2009)