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MSTO1-related Autosomal Recessive Mitochondrial Myopathy and Ataxia Syndrome: A Case Series and Description of Phenotypes

Author:Sharma, Rishi   Schimmenti, Lisa   Selcen, Duygu   Smith, Benn   Pinto e Vairo, Filippo   Dhamija, Radhika   

Session Name:P2: Child Neurology and Developmental Neurology: Neurogenetics 1  

Topic:Child Neurology and Developmental Neurology  

Program Number:P2.012  

Author Institution:Mayo Clinic, Rochester, MN  Mayo Clinic Scottsdale, Scottsdale, AZ  

Isolated Neurologic Manifestations of Adolescent-Onset Wilson Disease

Author:Stockman, John   Bogosian, Claire   Saucier, Laura E.   Jeste, Shafali S.   Rosser, Tena   Santoro, Jonathan D.   Ahsan, Nusrat   

Session Name:P2: Child Neurology and Developmental Neurology: Neurogenetics 1  

Topic:Child Neurology and Developmental Neurology  

Program Number:P2.013  

Author Institution:Children's Hospital Los Angeles, Los Angeles, CA  

Double Trouble: Adenylosuccinate Lyase Deficiency- a Study in Phenotypic Variation

Author:Vedula, Apoorva   Rawat, Akash   Koppanatham, Aishwarya   Varkey, Thomas   McVige, Jennifer   

Session Name:P2: Child Neurology and Developmental Neurology: Neurogenetics 1  

Topic:Child Neurology and Developmental Neurology  

Program Number:P2.014  

Author Institution:Osmania Medical College, Hyderabad, India  Himalayan Institute of medical sciences, Dehradun, India  Dent Neurological Institute, Amherst, NY  

Electroretinography Biomarkers Indicate Disrupted Visual Processing in Fragile X Syndrome: A Comparative Study with Healthy Controls

Author:Pu, Qianyi   Sekhar, Tejas   Stanley, Mary   Berry-Kravis, Elizabeth   

Session Name:P2: Child Neurology and Developmental Neurology: Neurogenetics 1  

Topic:Child Neurology and Developmental Neurology  

Program Number:P2.015  

Author Institution:Rush Medical College, Chicago, IL  Rush University Medical Center, Chicago, IL  

Case of Autosomal Recessive METTL5 Related Intellectual Disability with Deafness

Author:Daniel, Shreya   Bone, Megan   

Session Name:P2: Child Neurology and Developmental Neurology: Neurogenetics 1  

Topic:Child Neurology and Developmental Neurology  

Program Number:P2.016  

Author Institution:Johns Hopkins University School of Medicine, Baltimore, MD  Kennedy Krieger Institute, Baltimore, MD