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The First Korean Family of Spinocerebellar Ataxia 21 (ATX-TMEM240) with Facial Dystonic Phenotype
The Cerebellum
◽
10.1007/s12311-022-01368-6
◽
2022
◽
Author(s):
Don Gueu Park
◽
Min Seung Kim
◽
Jung Han Yoon
Keyword(s):
Spinocerebellar Ataxia
◽
Korean Family
Download Full-text
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References
Spinocerebellar Ataxia 13 Presenting with Pure Cerebellar Syndrome in a Korean Family
Journal of Movement Disorders
◽
10.14802/jmd.20064
◽
2020
◽
Vol 13
(3)
◽
pp. 244-246
Author(s):
Minkyeong Kim
◽
Seung Hwan Oh
◽
Jae Wook Cho
◽
Jae-Hyeok Lee
Keyword(s):
Spinocerebellar Ataxia
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Cerebellar Syndrome
◽
Korean Family
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Spinocerebellar Ataxia Type 6 and Episodic Ataxia Type 2 in a Korean Family
Journal of Korean Medical Science
◽
10.3346/jkms.2001.16.6.809
◽
2001
◽
Vol 16
(6)
◽
pp. 809
◽
Cited By ~ 11
Author(s):
Seong Ho Koh
◽
Hee Tae Kim
◽
Seung Hyun Kim
◽
Gyu Yong Lee
◽
Juhan Kim
◽
...
Keyword(s):
Spinocerebellar Ataxia
◽
Episodic Ataxia
◽
Spinocerebellar Ataxia Type
◽
Korean Family
◽
Spinocerebellar Ataxia Type 6
◽
Episodic Ataxia Type 2
◽
Episodic Ataxia Type
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Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6
Clinical Genetics
◽
10.1034/j.1399-0004.1998.531530104.x
◽
1998
◽
Vol 53
(1)
◽
pp. 13-19
◽
Cited By ~ 51
Author(s):
Hidetaka Watanabe
◽
Fumiaki Tanaka
◽
Michiyo Matsumoto
◽
Manabu Doyu
◽
Tetsuo Ando
◽
...
Keyword(s):
Spinocerebellar Ataxia
◽
Frequency Analysis
◽
Autosomal Dominant
◽
Japanese Patients
◽
Spinocerebellar Ataxia Type
◽
Spinocerebellar Ataxia Type 6
◽
Cerebellar Ataxias
Download Full-text
Neurophysiological Characterization of Autosomal Dominant Spinocerebellar Ataxia 17
Klinische Neurophysiologie
◽
10.1055/s-2004-832237
◽
2004
◽
Vol 35
(03)
◽
Author(s):
A Wolters
◽
U Walter
◽
R Benecke
◽
A Rolfs
Keyword(s):
Spinocerebellar Ataxia
◽
Autosomal Dominant
◽
Autosomal Dominant Spinocerebellar Ataxia
Download Full-text
Mitochondrial impairment in patients with spinocerebellar ataxia type 3
Aktuelle Neurologie
◽
10.1055/s-2004-833082
◽
2004
◽
Vol 31
(S 1)
◽
Author(s):
L Schöls
◽
J Andrich
◽
H Przuntek
◽
K Müller
◽
J Zange
Keyword(s):
Spinocerebellar Ataxia
◽
Spinocerebellar Ataxia Type
◽
Spinocerebellar Ataxia Type 3
◽
Mitochondrial Impairment
◽
Type 3
Download Full-text
Eye hand coordination in spinocerebellar ataxia type 17
Klinische Neurophysiologie
◽
10.1055/s-2006-939304
◽
2006
◽
Vol 37
(01)
◽
Author(s):
P Trillenberg
◽
A Sprenger
◽
A Hiller
◽
C Klein
◽
G Weinberger
◽
...
Keyword(s):
Spinocerebellar Ataxia
◽
Spinocerebellar Ataxia Type
◽
Hand Coordination
◽
Spinocerebellar Ataxia Type 17
Download Full-text
CATASTROPHIC EPILEPSY IN PATIENTS WITH INFANTILE ONSET SPINOCEREBELLAR ATAXIA (IOSCA), A NUCLEAR MITOCHONDRIAL DISORDER
Neuropediatrics
◽
10.1055/s-2006-945845
◽
2006
◽
Vol 37
(S 1)
◽
Author(s):
T Lonnqvist
◽
A Paetau
◽
H Pihko
Keyword(s):
Spinocerebellar Ataxia
◽
Mitochondrial Disorder
◽
Catastrophic Epilepsy
Download Full-text
Eye movement abnormalities in spinocerebellar ataxia type 17
Aktuelle Neurologie
◽
10.1055/s-2006-953057
◽
2006
◽
Vol 33
(S 1)
◽
Author(s):
J. Hübner
◽
A. Sprenger
◽
J. Hagenah
◽
C. Klein
◽
H. Rambold
◽
...
Keyword(s):
Eye Movement
◽
Spinocerebellar Ataxia
◽
Spinocerebellar Ataxia Type
◽
Spinocerebellar Ataxia Type 17
Download Full-text
Preserved eye-hand coordination in spinocerebellar ataxia type 17
Aktuelle Neurologie
◽
10.1055/s-2006-953074
◽
2006
◽
Vol 33
(S 1)
◽
Author(s):
P. Trillenberg
◽
A. Sprenger
◽
A. Hiller
◽
C. Klein
◽
G. Weinberger
◽
...
Keyword(s):
Spinocerebellar Ataxia
◽
Spinocerebellar Ataxia Type
◽
Hand Coordination
◽
Spinocerebellar Ataxia Type 17
Download Full-text
Functional measures in spinocerebellar ataxia (SCA) – evaluation of a SCA Functional Composite Index
Aktuelle Neurologie
◽
10.1055/s-2007-988073
◽
2007
◽
Vol 34
(S 2)
◽
Author(s):
T Schmitz-Hübsch
◽
D Timmann-Braun
◽
S Szymanski
◽
S Döhlinger
◽
JS Kang
◽
...
Keyword(s):
Spinocerebellar Ataxia
◽
Composite Index
◽
Functional Composite
◽
Functional Measures
Download Full-text
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