The Diagnosis of Mitochondrial Diseases Brochure. DIAGNOSTIC SERVICES FOR MITOCHONDRIAL DISORDERS. The Columbia University Department of Neurology is world-renowned for many pioneering studies on mitochondrial and metabolic myopathies. We provide comprehensive biochemical, morphological and DNA analyses to diagnose mitochondrial diseases, and to detect glycogenoses and disorders of lipid metabolism. The laboratory is under the supervision of Salvatore DiMauro, MD. And the services we provide.

Enter the terms you wish to search for. Enter the terms you wish to search for. Research Unveils a Developmental Splicing Program Controlling Neuronal Maturation and Excitability. The C9ORF72 GGGGCC expansion forms RNA G-quadruplex inclusions and sequesters hnRNP H to disrupt splicing in ALS patient brains. A Stem Cell Model of the Motor Circuit Uncouples Motor Neuron Death from Hyperexcitability Induced by SMN Deficiency.

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