Abstract

Non-motor manifestations of myoclonus dystonia on a mixed-ethnicity Filipino female with a novel sgce gene nonsense mutation: a case report

Full Text
Published version (Free)

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call

Similar Papers

Paper Title
Journal
Date
Author
A mixed-ethnicity myoclonus-dystonia patient with a novel SGCE nonsense mutation: a case report
Meliza Angelica J De Leon ... Christine Klein
BMC Neurology | VOL. 22
Meliza Angelica J De Leon, et. al.Meliza Angelica J De Leon ... Christine Klein
05 Jan 2022
A novel nonsense mutation in the fumarate hydratase gene in a Chinese patient with recurrent leiomyomas
Chenmin Yang ... Weiwei Feng
F&S Reports | VOL. 4
Chenmin Yang, et. al.Chenmin Yang ... Weiwei Feng
01 Aug 2023
Kindler epidermolysis bullosa associated with oral cancer in the buccal mucosa
Daisuke Sawamura ... Hajime Nakano
JAAD Case Reports | VOL. 26
Daisuke Sawamura, et. al.Daisuke Sawamura ... Hajime Nakano
18 Jun 2022
Identification of lung cancer drivers by comparison of the observed and the expected numbers of missense and nonsense mutations in individual human genes.
Christopher I Amos ... Ivan P Gorlov
Oncotarget | VOL. 13
Christopher I Amos, et. al.Christopher I Amos ... Ivan P Gorlov
25 May 2022
View more papers

More From: Parkinsonism and Related Disorders

Paper Title
Journal
Date
Author
Temporal and spatial characteristics of plantar pressure center trajectory for identifying early Parkinson's disease gait
Xia Zhang ... Yikuan Li
Parkinsonism and Related Disorders | VOL. 124
Xia Zhang, et. al.Xia Zhang ... Yikuan Li
07 May 2024
Energetic dysfunction and iron overload in early Parkinson's disease: Two distinct mechanisms?
Stephan Grimaldi ... Maxime Guye
Parkinsonism and Related Disorders | VOL. 124
Stephan Grimaldi, et. al.Stephan Grimaldi ... Maxime Guye
06 May 2024
A benign course of Parkinson's disease associated with different mutations in the glucocerebrosidase gene – A case series
Mikhal E Cohen ... Gilad Yahalom
Parkinsonism and Related Disorders | VOL. 124
Mikhal E Cohen, et. al.Mikhal E Cohen ... Gilad Yahalom
04 May 2024
Pilot therapeutic education program in multiple system atrophy: Safety, quality of life and satisfaction from a national registry based longitudinal study
A Cámara ... M.J Martí
Parkinsonism and Related Disorders | VOL. 124
A Cámara, et. al.A Cámara ... M.J Martí
03 May 2024
View more papers