Literature DB >> 31743419

Clinical and genetic findings in a cohort of Chinese patients with autosomal recessive spinocerebellar ataxia.

Rong-Yuan Guan1, Jian-Jun Wu2,1, Zheng-Tong Ding2, Jian Wang2, Yi-Min Sun2.   

Abstract

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Year:  2019        PMID： 31743419     DOI： 10.1111/cge.13669

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  4 in total

1.  Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype.

Authors:  Marta Gatti; Stefania Magri; Daniela Di Bella; Elisa Sarto; Franco Taroni; Caterina Mariotti; Lorenzo Nanetti
Journal:  Neurol Sci       Date:  2021-07-12       Impact factor: 3.307

2.  Autosomal recessive spinocerebellar ataxia type 4 with a VPS13D mutation: A case report.

Authors:  Xin Huang; Dong-Sheng Fan
Journal:  World J Clin Cases       Date:  2022-01-14       Impact factor: 1.337

3.  Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias.

Authors:  Hao-Ling Cheng; Ya-Ru Shao; Yi Dong; Hai-Lin Dong; Lu Yang; Yin Ma; Ying Shen; Zhi-Ying Wu
Journal:  Transl Neurodegener       Date:  2021-10-18       Impact factor: 8.014

4.  Genotype-Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review.

Authors:  Burcu Atasu; Ayse Nur Ozdag Acarlı; Basar Bilgic; Betül Baykan; Erol Demir; Yasemin Ozluk; Aydin Turkmen; Ann-Kathrin Hauser; Gamze Guven; Hasmet Hanagasi; Hakan Gurvit; Murat Emre; Thomas Gasser; Ebba Lohmann
Journal:  BMC Neurol       Date:  2022-03-28       Impact factor: 2.474
  4 in total

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