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Clinical and genetic study of autosomal recessive cerebellar ataxia type 1
Annals of Neurology
◽
10.1002/ana.21143
◽
2007
◽
Vol 62
(1)
◽
pp. 93-98
◽
Cited By ~ 57
Author(s):
Nicolas Dupré
◽
François Gros-Louis
◽
Nicolas Chrestian
◽
Steve Verreault
◽
Denis Brunet
◽
...
Keyword(s):
Cerebellar Ataxia
◽
Genetic Study
◽
Autosomal Recessive
◽
Autosomal Recessive Cerebellar Ataxia
Download Full-text
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Cited By
References
G.P.18.08 Clinical and genetic study of autosomal recessive cerebellar ataxia type 1
Neuromuscular Disorders
◽
10.1016/j.nmd.2007.06.435
◽
2007
◽
Vol 17
(9-10)
◽
pp. 892
Author(s):
N. Dupre
◽
F. Gros-Louis
◽
N. Chrestian
◽
D. de Verteuil
◽
B. Brais
◽
...
Keyword(s):
Cerebellar Ataxia
◽
Genetic Study
◽
Autosomal Recessive
◽
Autosomal Recessive Cerebellar Ataxia
Download Full-text
Autosomal Recessive Cerebellar Ataxia type 1 mimicking multiple sclerosis: A report of two siblings with a novel mutation in SYNE1 gene in a Saudi family
Journal of the Neurological Sciences
◽
10.1016/j.jns.2016.11.036
◽
2017
◽
Vol 372
◽
pp. 97-100
◽
Cited By ~ 13
Author(s):
Hussein Algahtani
◽
Yousef Marzouk
◽
Raghad Algahtani
◽
Sali Salman
◽
Bader Shirah
Keyword(s):
Multiple Sclerosis
◽
Cerebellar Ataxia
◽
Autosomal Recessive
◽
Novel Mutation
◽
Autosomal Recessive Cerebellar Ataxia
◽
Saudi Family
Download Full-text
Autosomal recessive cerebellar ataxia: A clinical and genetic study
Journal of the Neurological Sciences
◽
10.1016/j.jns.2013.07.1665
◽
2013
◽
Vol 333
◽
pp. e468
Author(s):
L. Ali-Pacha
◽
W. Hamza
◽
S. Nouioua
◽
C. Lagier-Tourenne
◽
S. Assami
◽
...
Keyword(s):
Cerebellar Ataxia
◽
Genetic Study
◽
Autosomal Recessive
◽
Autosomal Recessive Cerebellar Ataxia
Download Full-text
Autosomal Recessive Cerebellar Ataxia Type 1: Phenotypic and Genetic Correlation in a Cohort of Chinese Patients with SYNE1 Variants
The Cerebellum
◽
10.1007/s12311-020-01186-8
◽
2020
◽
Author(s):
Xiaohui Duan
◽
Ying Hao
◽
Zhenhua Cao
◽
Chao Zhou
◽
Jin Zhang
◽
...
Keyword(s):
Genetic Correlation
◽
Cerebellar Ataxia
◽
Autosomal Recessive
◽
Chinese Patients
◽
Autosomal Recessive Cerebellar Ataxia
Download Full-text
Homozygous Splice Mutation in CWF19L1 in Two Brothers with Autosomal Recessive Cerebellar Ataxia
Neuropediatrics
◽
10.1055/s-0037-1603019
◽
2017
◽
Vol 48
(S 01)
◽
pp. S1-S45
Author(s):
A. Enderli
◽
B. Heinrich
◽
P. Joset
◽
J. De Geyter
◽
J. Scheer
◽
...
Keyword(s):
Cerebellar Ataxia
◽
Autosomal Recessive
◽
Splice Mutation
◽
Autosomal Recessive Cerebellar Ataxia
Download Full-text
Spectrin-associated autosomal recessive cerebellar ataxia
10.32388/gqwz1k
◽
2020
◽
Author(s):
Keyword(s):
Cerebellar Ataxia
◽
Autosomal Recessive
◽
Autosomal Recessive Cerebellar Ataxia
Download Full-text
LINKAGE TO CHROMOSOME 13Q11‐12 OF AN AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA IN A TUNISIAN FAMILY
Journal of the Peripheral Nervous System
◽
10.1111/j.1529-8027.2000.22-22.x
◽
2000
◽
Vol 5
(4)
◽
pp. 241-242
Author(s):
N Mrissa
◽
S Belal
◽
C Ben Hamida
◽
R Amouri
◽
I Turki
◽
...
Keyword(s):
Cerebellar Ataxia
◽
Autosomal Recessive
◽
Autosomal Recessive Cerebellar Ataxia
◽
Tunisian Family
Download Full-text
Executive and Attentional Disorders, Epilepsy and Porencephalic Cyst in Autosomal Recessive Cerebellar Ataxia Type 3 Due to ANO10 Mutation
European Neurology
◽
10.1159/000445109
◽
2016
◽
Vol 75
(3-4)
◽
pp. 186-190
◽
Cited By ~ 11
Author(s):
Ludivine Chamard
◽
Géraldine Sylvestre
◽
Michel Koenig
◽
Eloi Magnin
Keyword(s):
Cerebellar Ataxia
◽
Autosomal Recessive
◽
Porencephalic Cyst
◽
Autosomal Recessive Cerebellar Ataxia
◽
Attentional Disorders
◽
Type 3
Download Full-text
Autosomal Recessive Cerebellar Ataxia 3 Due to Homozygote c.132dupA Mutation Within theANO10Gene
JAMA Neurology
◽
10.1001/jamaneurol.2014.3918
◽
2015
◽
Vol 72
(2)
◽
pp. 238
◽
Cited By ~ 2
Author(s):
Martina Minnerop
◽
Peter Bauer
Keyword(s):
Cerebellar Ataxia
◽
Autosomal Recessive
◽
Autosomal Recessive Cerebellar Ataxia
Download Full-text
Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion
Genetics in Medicine
◽
10.1038/gim.2014.95
◽
2014
◽
Vol 17
(4)
◽
pp. 291-299
◽
Cited By ~ 27
Author(s):
Kristof Van Schil
◽
Françoise Meire
◽
Marcus Karlstetter
◽
Miriam Bauwens
◽
Hannah Verdin
◽
...
Keyword(s):
Cerebellar Ataxia
◽
Early Onset
◽
Autosomal Recessive
◽
Retinal Dystrophy
◽
Autosomal Recessive Cerebellar Ataxia
Download Full-text
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