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Rare Deleterious Mutations in CSVD-Related Genes: Phenotypic and Neuroimaging Correlates in a Multicenter Chinese Cohort

Author:Li, Yijuan   Yao, Ming   Wan, Mengyao   Liu, Jingyi   Liu, Zi-Yue   Han, Fei   Zhou, Lixin   Ni, Jun   Zhu, Yi-Cheng   

Session Name:P4: Cerebrovascular Disease and Interventional Neurology: Translational Science, Advanced Diagnostics, and Pathophysiology 1  

Topic:Cerebrovascular Disease and Interventional Neurology  

Program Number:P4.004  

Author Institution:Peking Union Medical College, Beijing, China, People's Republic of  Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Science, Beijing, China, People's Republic of  

Rare Genetic Variants in CMT: Linking Genotype to Phenotype Through Morphological and Molecular Studies

Author:Bekircan-Kurt, Can Ebru   Aksu-Menges, Evrim   Sinik, Isra   Arslan, Doruk   Kumtepe, Eray Taha   Terzi, Yunus Kasim   Ergul-Ulger, Zeynep   Erdem-Ozdamar, Sevim   Tan, Ersin   Balci-Hayta, Burcu   

Session Name:P6: Neuromuscular and Clinical Neurophysiology (EMG): Peripheral Nerve and Other Neuromuscular Disorders  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:P6.015  

Author Institution:Hacettepe University, Neurology Dept., Turkey  Hacettepe University, Medical Biology Dept., Ankara, Turkey  Hacettepe University, Medical Biology Dept., Turkey  Hacettepe University, Neurology Dept., Ankara, Turkey  Baskent University, Medical Genetics Dept., Turkey  

A Rare Presentation of hATTR-related Axonal Polyradiculoneuropathy with Cranial Neuropathy in An African American with p.Ile127Val Mutation

Author:Zhang, Li   Daley, Catherine   

Session Name:P2: Neuromuscular and Clinical Neurophysiology (EMG): Case Studies in Neuromuscular Medicine 1  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:P2.015  

Author Institution:Northwestern Memorial Hospital, Chicago, IL  Northwestern Medicine, Orland Park, IL  

Rare Presentation of Hereditary Diffuse Leukoencephalopathy with Mutation in Previous Variant of Uncertain Significance in CSF1R p.Ser759Pro.

Author:Langford, Jordan   White, Caitlin   Hart, Hannah   Bonkowsky, Joshua   Crane, Paul   

Session Name:P5: Aging, Dementia, and Behavioral Neurology: Genetics  

Topic:Aging, Dementia, and Behavioral Neurology  

Program Number:P5.002  

Author Institution:University of Utah, North Salt Lake, UT  University of Utah, Salt Lake City, Utah, UT  University of Utah, UT  University of Utah, Salt Lake City, UT  University of Utah, West Jordan, UT  

A Rare Presentation of Neuroborreliosis with Elevated Intracranial Pressure in a Young Female

Author:Zahra, Zainab   Iqbal, Amna   Koffman, Boyd   

Session Name:P6: Infectious Disease: Ticks and Fleas  

Topic:Infectious Disease  

Program Number:P6.007  

Author Institution:University of Toledo Department of Neurology, Toledo, OH  Wah Medical College, Pakistan