MDS Virtual Congress 2021 » Genetics (Non-PD)

Meeting: MDS Virtual Congress 2021

A Child with Fever-Induced Paroxysmal Weakness and Encephalopathy with ATP1A3 mutation

D. Ferman, Q. Luc (Los Angeles, USA)

Be aware of pitfalls: Bioinformatic analysis of Cas9-targeted Nanopore sequencing of the RFC1 repeat in CANVAS

I. Wohlers, H. Pott, S. Schaake, J. Trinh, H. Busch, K. Lohmann (Lübeck, Germany)

Cognitive profiling in a cohort of Primary Familial Brain Calcification (PFBC) patients

M. Garon, M. Carecchio, L. Weis, F. Pistonesi, M. Mainardi, G. Bonato, L. Salviati, A. Antonini, R. Biundo (Padova, Italy)

Differential methylation signatures in Lewy body dementia

P. Reho, TG. Beach, GE. Serrano, KL. Newell, HP. Easwaran, JC. Troncoso, O. Pletnikova, SW. Scholz (Bethesda, USA)

HSP-SPG5A/CYP7B1: unusual clinical and genetic characteristics in an Indian family

A. Orlacchio, M. Stasi, A. Stigliano, A. Meyyazhagan, T. Kawarai (Rome, Italy)

Mutation analysis of BSN gene in patients with multiple system atrophy

M. Wakita, A. Nagai, H. Yaguchi, I. Yabe (Sapporo, Japan)

New presenilin-1 missense variant (p.Pro88Arg) characterized by initial progressive supranuclear palsy like phenotype.

Q. Thomas, S. Nambot, C. Thauvin-Robinet, C. Philippe, Y. Bejot, G. Dupont (Dijon, France)

Whole-Exome Sequencing in a Movement Disorders Clinic

C. Shah, L. Robak, E. Hill, J. Jankovic (Houston, USA)

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