- A KMT2B Frameshift Variant Causing Focal Dystonia Restricted to the Oromandibular Region After Long-Term Follow-up
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Closas AMFD, Lohmann K, Tan AH, Ibrahim NM, Lim JL, Tay YW, Muthusamy KA, Ahmad-Annuar AB, Klein C, Lim SY
- KMID: 2539026
- J Mov Disord.
- 2023 Jan;16(1):91-94.
- doi: 10.14802/jmd.22109
KMT2B-linked dystonia (DYT-KMT2B) is a childhood-onset dystonia syndrome typically beginning in the lower limbs and progressing caudocranially to affect the upper limbs with eventual prominent craniocervical involvement. Despite its recent... -
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- Loss-of-Function Variant in the SMPD1 Gene in Progressive Supranuclear Palsy-Richardson Syndrome Patients of Chinese Ancestry
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Lim SY, Tan AH, Foo JN, Tan YJ, Chew EG, Annuar AA, Closas AMD, Pajo A, Lim JL, Tay YW, Nadhirah A, Hor JW, Toh TS, Lit LC, Zulkefli J, Ngim SJ, Lim WK, Morris HR, Tan EK, Ng AS
- KMID: 2554696
- J Mov Disord.
- 2024 Apr;17(2):213-217.
- doi: 10.14802/jmd.24009
Lysosomal dysfunction plays an important role in neurodegenerative diseases, including Parkinson’s disease (PD) and possibly Parkinson-plus syndromes such as progressive supranuclear palsy (PSP). This role is exemplified by the involvement... -
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