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期刊名:Cerebellum and ataxias

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ISSN:2053-8871

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共收录本刊相关文章索引137
Clinical Trial Case Reports Meta-Analysis RCT Review Systematic Review
Classical Article Case Reports Clinical Study Clinical Trial Clinical Trial Protocol Comment Comparative Study Editorial Guideline Letter Meta-Analysis Multicenter Study Observational Study Randomized Controlled Trial Review Systematic Review
Kathie J Ngo,Gemma Poke,Katherine Neas et al. Kathie J Ngo et al.
Background: Mutations in the Inositol 1,4,5-Trisphosphate Receptor Type 1 (ITPR1) gene cause spinocerebellar ataxia type 29 (SCA29), a rare congenital-onset autosomal dominant non-progressive cerebellar ataxia. The Māori...
Corey Bolton,Maureen Lacy Corey Bolton
Background: The spinocerebellar ataxias (SCA) are a heterogeneous group of progressive neurodegenerative disorders that are associated with diffuse cerebellar atrophy. While the physical symptoms of this condition have lo...
Adriana Moro,Mariana Moscovich,Marina Farah et al. Adriana Moro et al.
Nonmotor symptoms (NMS) have been increasingly recognized in a number of neurodegenerative diseases with a burden of disability that parallels or even surpasses that induced by motor symptoms. As NMS have often been poorly recognized and in...
Emanuela Molinari,Maria Oto,Ashita Waterston et al. Emanuela Molinari et al.
Disorders of the cerebellum may present with motor, cognitive, behavioral and affective symptoms. There is a growing interest in developing neuroanatomical models of symptoms generation that involve the cerebellum and the cerebello-cortical...
Ida Stenshorne,Magnhild Rasmussen,Panagiotis Salvanos et al. Ida Stenshorne et al.
Background: CAPOS (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss) syndrome is caused by the heterozygous mutation, c.2452G > A, in the ATP1A3 gene. Other mutations in this gene can ...
Cerebellum & Ataxias Cerebellum & Ataxias
[This corrects the article DOI: 10.1186/s40673-019-0101-x.].
Humberto Skott,Cristina Muntean-Firanescu,Kristin Samuelsson et al. Humberto Skott et al.
Background: Friedreich ataxia (FRDA) is the most common familial ataxia syndrome in Central and Southern Europe but rare in Scandinavia. Biallelic mutations in SH3 domain and tetratricopeptide repeats 2 (SH3TC2) cause Cha...
Sara M Souza,Barbara O Santos,Isadora C A Sodré et al. Sara M Souza et al.
Background: Paraneoplastic cerebellar degeneration is usually associated with gynecological and breast cancer, lung cancer, and Hodgkin's lymphoma. Renal cell carcinoma has rarely been described as an underlying malignanc...
Viren H Kadodwala,Marios Hadjivassiliou,Stuart Currie et al. Viren H Kadodwala et al.
Background: Multiple system atrophy (MSA) is a sporadic adult-onset neurodegenerative disease with a cerebellar subtype where ataxic symptoms predominate (MSA-C) associated with autonomic dysfunction and a grave prognosis...