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SPINOCEREBELLAR ATAXIA 21
Known as:
SCA21
National Institutes of Health
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Related topics
Related topics
23 relations
Abnormality of extrapyramidal motor function
Aggressive behavior
Akinesia
Apathy
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Broader (1)
Spinocerebellar Degeneration
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Neural-specific distribution of transmembrane protein TMEM240 and formation of TMEM240-Body.
Qiongqiong Hu
,
Guangyou Wang
,
+16 authors
Jinghua Wang
International Journal of Biological…
2020
Corpus ID: 219703605
2020
2020
The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals
Mégane Homa
,
A. Loyens
,
+6 authors
B. Sablonnière
Cerebellum
2020
Corpus ID: 210953879
A variety of missense mutations and a stop mutation in the gene coding for transmembrane protein 240 ( TMEM240 ) have been…
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2019
2019
Isolation and characterization of bioactive compounds with antibacterial, antioxidant and enzyme inhibitory activities from marine-derived rare actinobacteria, Nocardiopsis sp. SCA21.
S. Siddharth
,
Ravishankar Rai V
Microbial Pathogenesis
2019
Corpus ID: 204242926
Review
2019
Review
2019
The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature.
Andreas Traschütz
,
J. van Gaalen
,
+9 authors
M. Synofzik
Parkinsonism & Related Disorders
2019
Corpus ID: 54490165
2015
2015
Cognition in SCA21 reflects developmental and adult onset cerebellar cognitive affective syndrome.
P. Braga-Neto
,
J. L. Pedroso
,
O. Barsottini
,
J. Schmahmann
Brain : a journal of neurology
2015
Corpus ID: 32487659
Sir, We read with interest the article by Delplanque et al. (2014) entitled: ‘TMEM240 mutations cause spinocerebellar ataxia…
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2014
2014
Spinocerebellar Ataxia 21 with Retardation
J. Millichap
,
J. Millichap
2014
Corpus ID: 58497835
Investigators at Universite de Lille Nord de France, and other centers in France, report the identification of a novel causative…
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2008
2008
Slowly progressive spinocerebellar ataxia with extrapyramidal signs and mild cognitive impairment (SCA21)
J. Delplanque
,
D. Devos
,
+6 authors
B. Sablonnière
Cerebellum
2008
Corpus ID: 31724588
Spinocerebellar ataxia 21 is a slowly progressive and mild ataxia associated with extrapyramidal signs. Affected subjects exhibit…
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2004
2004
A novel neurodegenerative disease characterised by posterior column ataxia and pyramidal tract involvement maps to chromosome 8p12–8q12.1
P. Valdmanis
,
A. A. Simões Lopes
,
F. Gros-Louis
,
J. Stewart
,
G. Rouleau
,
N. Dupré
Journal of Medical Genetics
2004
Corpus ID: 21578117
The recent barrage of linkage assignments and gene discoveries has confirmed the clinical and genetic heterogeneity of ataxic…
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2003
2003
Identification d'un nouveau locus responsable d'une ataxie spinocérébelleuse héréditaire (SCA21) : approche gène-candidat
I. Vuillaume
2003
Corpus ID: 80633815
Highly Cited
2002
Highly Cited
2002
A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3‐p15.1
I. Vuillaume
,
D. Devos
,
+9 authors
B. Sablonnière
Annals of Neurology
2002
Corpus ID: 12301865
We investigated a French family with a new type of autosomal dominant spinocerebellar ataxia that was excluded from all…
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