Session Details

[Pe-048]English Poster Session 048 Neurogenetics 1

Fri. May 23, 2025 5:15 PM - 6:35 PM JST
Fri. May 23, 2025 8:15 AM - 9:35 AM UTC
ポスター会場(大阪国際会議場3F イベントホール)
Chairs: Manabu Funayama(Juntendo University, Japan), Tatsuhiko Naito(Department of Neuroscience, Icahn School of Medicine at Mount Sinai, Japan)

[Pe-048-1]withdrawn

[Pe-048-2]withdrawn

[Pe-048-3]Ubiquitin-associated protein one gene (UBAP1) mutation in a Filipino male with Spastic Paraplegia

Kruzette Khloe L. Solijon, Joshua Emmanuel E. Abejero (Chong Hua Hospital, Philippines)

[Pe-048-4]Computational molecular characterization of a novel SLC20A2 variant associated with PFBC

Min-yu Lan1, Yu-sung Huang2, Jia-yin Tsai2, Shih-chun Lan3, Yuh-ju Sun2, Yung-yee Chang1 (1.Neurology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan, 2.Institute of Bioinformatics and Structural Biology, National Tsing Hua University, Hsinchu, Taiwan, Taiwan, 3.School of Medicine, National Taiwan University College of Medicine, Taipei, Taiwan, Taiwan)

[Pe-048-5]Alternatively spliced novel isoforms of sHSPB6 and its role in neurodegenerative disorders

Naira Rashid, Sayeed Ur Rehman A Kalam (Jamia Hamdard, India)

[Pe-048-6]withdrawn

[Pe-048-7]Cerebellar ataxia and voltage-dependent calcium channel genes: a candidate gene approach in J-CAT

Yuka Hama1, Hidetoshi Date2, Yuji Takahashi1,3, Hidehiro Mizusawa4, J-CAT (Japan Consortium of Ataxias)5 (1.Department of Genomic Medicine, National Center Hospital, National Center of Neurology and Psychiatry, Japan, 2.Medical Genome Center, National Center of Neurology and Psychiatry, Japan, 3.Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan, 4.National Center of Neurology and Psychiatry, Japan, 5.J-CAT (Japan Consortium of Ataxias), Japan)