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Prodromal spinocerebellar ataxia type 2: Prospects for early interventions and ethical challenges.
Velázquez-Pérez L, Rodríguez-Labrada R, Laffita-Mesa JM. Velázquez-Pérez L, et al. Mov Disord. 2017 May;32(5):708-718. doi: 10.1002/mds.26969. Epub 2017 Mar 3. Mov Disord. 2017. PMID: 28256108 Review.
The characterization of prodromal stages in neurodegenerative disorders is becoming increasingly important because of the need for early neuroprotective therapies. Research during the past 3 decades in spinocerebellar ataxia type 2 has revealed a large body o …
The characterization of prodromal stages in neurodegenerative disorders is becoming increasingly important because of the need for early neu …
Spinocerebellar ataxia type 28 in a Chinese pedigree: A case report and literature review.
Liu X, Wang L, Chen J, Kang C, Li J. Liu X, et al. Medicine (Baltimore). 2021 Dec 17;100(50):e28008. doi: 10.1097/MD.0000000000028008. Medicine (Baltimore). 2021. PMID: 34918652 Free PMC article. Review.
RATIONALE: Spinocerebellar ataxia (SCA) is a common neurogenetic disease that mainly manifests as ataxia of posture, gait, and limbs, cerebellar dysarthria, and cerebellar and supranuclear eye movement disorders. ...INTERVENTIONS: The patients did not receive …
RATIONALE: Spinocerebellar ataxia (SCA) is a common neurogenetic disease that mainly manifests as ataxia of posture, ga …
Spinocerebellar ataxia 36 (SCA36): «Costa da Morte ataxia».
Arias M, García-Murias M, Sobrido MJ. Arias M, et al. Neurologia. 2017 Jul-Aug;32(6):386-393. doi: 10.1016/j.nrl.2014.11.005. Epub 2015 Jan 13. Neurologia. 2017. PMID: 25593102 Free article. Review. English, Spanish.
INTRODUCTION-OBJECTIVE: To describe the history of the discovery of SCA36 and review knowledge of this entity, which is currently the most prevalent hereditary ataxia in Galicia (Spain) owing to a founder effect. DEVELOPMENT: SCA36 is an autosomal dominant hereditary at
INTRODUCTION-OBJECTIVE: To describe the history of the discovery of SCA36 and review knowledge of this entity, which is currently the most p …
[Recent advances in clinical and genetic research of spinocerebellar ataxia type 36].
Zeng S, Tang B, Wang J. Zeng S, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Dec;32(6):886-9. doi: 10.3760/cma.j.issn.1003-9406.2015.06.029. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015. PMID: 26663071 Review. Chinese.
Non-coding expansion spinocerebellar ataxias (SCAs) are a group of autosomal dominant neurodegenerative diseases characterized by "CTA/CTG", "ATTCT", "TGGAA" expansion in non-coding region of the causative gene. ...
Non-coding expansion spinocerebellar ataxias (SCAs) are a group of autosomal dominant neurodegenerative diseases characterized …
The autosomal dominant spinocerebellar ataxias: emerging mechanistic themes suggest pervasive Purkinje cell vulnerability.
Hekman KE, Gomez CM. Hekman KE, et al. J Neurol Neurosurg Psychiatry. 2015 May;86(5):554-61. doi: 10.1136/jnnp-2014-308421. Epub 2014 Aug 18. J Neurol Neurosurg Psychiatry. 2015. PMID: 25136055 Free PMC article. Review.
The spinocerebellar ataxias are a genetically heterogeneous group of disorders with clinically overlapping phenotypes arising from Purkinje cell degeneration, cerebellar atrophy and varying degrees of degeneration of other grey matter regions. For 22 of the 32
The spinocerebellar ataxias are a genetically heterogeneous group of disorders with clinically overlapping phenotypes arising …
[Spastic ataxia of Charlevoix-Saguenay: the first Russian case report and literature review].
Rudenskaya GE, Kadnikova VA, Ryzhkova OP. Rudenskaya GE, et al. Zh Nevrol Psikhiatr Im S S Korsakova. 2020;120(2):85-91. doi: 10.17116/jnevro202012002185. Zh Nevrol Psikhiatr Im S S Korsakova. 2020. PMID: 32307416 Review. Russian.
Spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare autosomal recessive neurodegenerative disease related to SACS gene and characterized by cerebellar, pyramidal and some other signs. ...Along with main typical features, she had atypical late disease onset (in 32
Spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare autosomal recessive neurodegenerative disease related to SACS gene and chara …
[Genetics in movement disorders].
Sakoda S. Sakoda S. Nihon Rinsho. 1993 Nov;51(11):2935-9. Nihon Rinsho. 1993. PMID: 8277574 Review. Japanese.
The expansion of an unstable trinucleotide CAG repeat are also the causes of hereditary neurodegenerative diseases such as X-linked bular and spinal muscular atrophy and spinocerebellar ataxia type 1. 3) There are various forms in hereditary dystonia. Althoug …
The expansion of an unstable trinucleotide CAG repeat are also the causes of hereditary neurodegenerative diseases such as X-linked bular an …