- A Novel APTX Variant and Ataxia with Oculomotor Apraxia Type 1
-
Manzoor H, Bukhari I, Wajid M, Zhang Y, Zhang H, Brüggemann N, Klein C, Shi Q, Naz S
- KMID: 2391678
- J Clin Neurol.
- 2017 Jul;13(3):303-305.
- doi: 10.3988/jcn.2017.13.3.303
No abstract available. -
- CITED
-
- Close
- SHARE
-
- Close
- A KMT2B Frameshift Variant Causing Focal Dystonia Restricted to the Oromandibular Region After Long-Term Follow-up
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
- Using Formative Research to Design an Epidemiologic Survey: The North Carolina Study of Home Care and Hospice Nurses
-
Leiss JK, Lyden JT, Klein C
- KMID: 2380532
- Epidemiol Health.
- 2011;33:e2011008.
OBJECTIVES: Formative research can serve as a means of obtaining important information for designing an epidemiologic study, but descriptions of this approach in the epidemiologic literature are lacking. The objective... -
- CITED
-
- Close
- SHARE
-
- Close
- GBA1 Variants and Parkinson’s Disease: Paving the Way for Targeted Therapy
-
Huh YE, Usnich T, Scherzer CR, Klein C, Chung SJ
- KMID: 2545923
- J Mov Disord.
- 2023 Sep;16(3):261-278.
- doi: 10.14802/jmd.23023
Glucosylceramidase beta 1 (GBA1) variants have attracted enormous attention as the most promising and important genetic candidates for precision medicine in Parkinson’s disease (PD). A substantial correlation between GBA1 genotypes... -
- CITED
-
- Close
- SHARE
-
- Close
