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Tremor without parkinsonism: a new phenotype of autosomal-dominant striatal degeneration
Parkinsonism & Related Disorders
◽
10.1016/j.parkreldis.2021.05.003
◽
2021
◽
Author(s):
Yi-Min Sun
◽
Hai-Qing Li
◽
Yue Zhang
Keyword(s):
Autosomal Dominant
◽
Striatal Degeneration
Download Full-text
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References
P124 Autosomal Dominant Striatal Degeneration is caused by a mutation in the phosphodiesterase 8B gene
Basal Ganglia
◽
10.1016/j.baga.2011.01.044
◽
2011
◽
Vol 1
(1)
◽
pp. 27
Author(s):
S. Appenzeller
◽
R. Lucius
◽
A. Schirmacher
◽
E.B. Ringelstein
◽
J.A. Beavo
◽
...
Keyword(s):
Autosomal Dominant
◽
Striatal Degeneration
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Autosomal dominant striatal degeneration (ADSD): Clinical description and mapping to 5q13-5q14
Neurology
◽
10.1212/01.wnl.0000130485.89814.10
◽
2004
◽
Vol 62
(12)
◽
pp. 2203-2208
◽
Cited By ~ 6
Author(s):
G. Kuhlenbaumer
◽
P. Ludemann
◽
A. Schirmacher
◽
E. De Vriendt
◽
G. Hunermund
◽
...
Keyword(s):
Autosomal Dominant
◽
Striatal Degeneration
◽
Clinical Description
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Clinical findings of autosomal-dominant striatal degeneration and PDE8B mutation screening in parkinsonism and related disorders
Parkinsonism & Related Disorders
◽
10.1016/j.parkreldis.2019.11.002
◽
2019
◽
Vol 69
◽
pp. 94-98
Author(s):
Jie Ni
◽
Xiaoping Yi
◽
Zhen Liu
◽
Weining Sun
◽
Yanchun Yuan
◽
...
Keyword(s):
Autosomal Dominant
◽
Mutation Screening
◽
Clinical Findings
◽
Striatal Degeneration
Download Full-text
A novel mutation of PDE8B Gene in a Japanese family with autosomal-dominant striatal degeneration
Movement Disorders
◽
10.1002/mds.26345
◽
2015
◽
Vol 30
(14)
◽
pp. 1964-1967
◽
Cited By ~ 6
Author(s):
Reo Azuma
◽
Kinya Ishikawa
◽
Kosei Hirata
◽
Yuji Hashimoto
◽
Makoto Takahashi
◽
...
Keyword(s):
Autosomal Dominant
◽
Novel Mutation
◽
Japanese Family
◽
Striatal Degeneration
Download Full-text
Autosomal-Dominant Striatal Degeneration Is Caused by a Mutation in the Phosphodiesterase 8B Gene
The American Journal of Human Genetics
◽
10.1016/j.ajhg.2009.12.003
◽
2010
◽
Vol 86
(1)
◽
pp. 83-87
◽
Cited By ~ 20
Author(s):
Silke Appenzeller
◽
Anja Schirmacher
◽
Hartmut Halfter
◽
Sebastian Bäumer
◽
Manuela Pendziwiat
◽
...
Keyword(s):
Autosomal Dominant
◽
Striatal Degeneration
Download Full-text
Hereditary phlebectasis of the lips. An autosomal dominant disorder
Archives of Dermatology
◽
10.1001/archderm.112.5.712
◽
1976
◽
Vol 112
(5)
◽
pp. 712-714
Author(s):
W. B. Reed
Keyword(s):
Autosomal Dominant
◽
Autosomal Dominant Disorder
Download Full-text
859: Autosomal Dominant Tranmission of Genitovaginal Prolapse
The Journal of Urology
◽
10.1016/s0022-5347(18)35028-6
◽
2005
◽
Vol 173
(4S)
◽
pp. 233-234
Author(s):
Gregory S. Jack
◽
Raviender Bukkapatnam
◽
Ganka Nicolav
◽
Eric Vilain
◽
Larissa V. Rodriguez
Keyword(s):
Autosomal Dominant
Download Full-text
109 A mutation at chromosome 7q22.3-33.1 can lead to autosomal-dominant dilated cardiomyopathy
European Journal of Heart Failure Supplements
◽
10.1016/s1567-4215(05)80067-0
◽
2005
◽
Vol 4
(1)
◽
pp. 25-26
Keyword(s):
Dilated Cardiomyopathy
◽
Autosomal Dominant
Download Full-text
Information provided by pairs of distantly affected relatives to search for genes involved in rare autosomal dominant diseases
Annals of Human Genetics
◽
10.1017/s0003480096005970
◽
1997
◽
Vol 61
(1)
◽
pp. 25-36
◽
Cited By ~ 2
Author(s):
E. GÉNIN
◽
G. BELLIS
◽
F. CLERGET-DARPOUX
Keyword(s):
Autosomal Dominant
Download Full-text
Echocardiographic findings in kidney transplant patients with autosomal dominant polycystic kidney disease
Scandinavian Journal of Urology and Nephrology
◽
10.1080/00365590902972446
◽
2009
◽
pp. 1-4
Author(s):
Henrik Hadimeri
◽
Kenneth Caidahl
◽
Odd Bech-Hanssen
◽
Gudrun Nyberg
Keyword(s):
Kidney Disease
◽
Kidney Transplant
◽
Polycystic Kidney Disease
◽
Autosomal Dominant
◽
Polycystic Kidney
◽
Transplant Patients
◽
Kidney Transplant Patients
◽
Autosomal Dominant Polycystic Kidney
◽
Echocardiographic Findings
Download Full-text
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