- A family with machado-joseph disease confirmed by gene analysis
-
Lyoo CH, Kim YD, Lee MS
- KMID: 2442970
- J Korean Neurol Assoc.
- 1997 Apr;15(2):403-412.
The Machado Joseph disease(MJD) is a progressive neurodegenerative disease with an autosomal dominant inheritance. Patients affected by MJD may present variable combinations of cerebellar ataxia, ophthalmoplegia, pyramidal tract signs, extrapyramidal... -
- CITED
-
- Close
- SHARE
-
- Close
- Assessment of Bone Mineral Density of Patients with Spinocerebellar Ataxia Type 3
-
Farias AM, Appenzeller S, França MC, Martinez A, Etchebehere EE, Souza TF, Santos AO
- KMID: 2438678
- J Mov Disord.
- 2019 Jan;12(1):43-46.
- doi: 10.14802/jmd.18041
OBJECTIVE: Machado-Joseph disease (MJD) is a spinocerebellar ataxia, and osteoporosis is a multifactor disease that may affect patients with neurologic conditions. The frequency of osteoporosis among MJD patients, however, has... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Juvenile Onset Spinocerebellar Ataxia Type 3
-
Kim JS, Kim YI, Lee KS, Jin DK
- KMID: 2329239
- J Korean Child Neurol Soc.
- 2000 Dec;8(2):329-332.
The genetic locus of spinocerebellar ataxia type 3 (SCA3) is linked to chromosome 14q 24.3-qter like Machado-Joseph disease (MJD). The number of CAG repeats on mutant chromosome correlates positively with severity of... -
- CITED
-
- Close
- SHARE
-
- Close
- A case of spinocerebellar ataxia type 3: Clinically suspected sporadic inheritance
-
Lee WY, Jin DK
- KMID: 2342602
- J Korean Neurol Assoc.
- 1997 Feb;15(1):204-210.
The spinocerebellar ataxia are a heterogeneous group of neurodegeneative disorders varying in both clinical manifestations and mode of inheritance. Recently, CAG trinucleotide repeats have been identified in inherited neurodegenerative disease... -
- CITED
-
- Close
- SHARE
-
- Close
- Spinocerebellar Ataxia Type 3 Confirmed by Genomic Molecular Analysis: A case report
-
Ahn KH, Kim HS, Kim HW, Kim DH, Yu SD, Cha SM, Park SS
- KMID: 2323662
- J Korean Acad Rehabil Med.
- 2001 Aug;25(4):714-719.
Dominantly inherited spinocerebellar ataxias (SCAs) are a group of the heterogenous neurodegenerative diseases that are characterized by chronic progressive cerebellar ataxia associated with various combinations of other neurological signs. Clinical... -
- CITED
-
- Close
- SHARE
-
- Close
- Expression of Expanded Polyglutamine Disease Proteins in Drosophila (Drosophila Polyglutamine Disease Models)
-
Shin SM, Paik KH, Jin DK
- KMID: 2278680
- Korean J Pediatr.
- 2005 Apr;48(4):425-432.
PURPOSE: Polyglutamine diseases are a group of diseases caused by the expansion of a polyglutamine tract in the protein. The present study was performed to verify if polyglutamine disease transgenic... -
- CITED
-
- Close
- SHARE
-
- Close
- Optimized Methods of Preimplantation Genetic Diagnosis for Trinucleotide Repeat Diseases of Huntington's Disease, Spinocerebellar Ataxia 3 and Fragile X Syndrome
-
Kim MJ, Lee HS, Lim CK, Cho JW, Kim JY, Koong MK, Song IO, Kang IS, Jun JH
- KMID: 1986938
- Korean J Reprod Med.
- 2007 Sep;34(3):179-188.
OBJECTIVES: Many neurological diseases are known to be caused by expansion of trinucleotide repeats (TNRs). It is hard to diagnose the alteration of TNRs with single cell level for preimplantation... -
- CITED
-
- Close
- SHARE
-
- Close
