Literature DB >> 28192817

Spinocerebellar Ataxia 27: Clinical Phenotype of Twin Sisters with FGF14 Deletion.

Alfonso Amado1, Manuel Oscar Blanco1, Alfredo Repáraz-Andrade2.   

Abstract

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Year:  2017        PMID： 28192817     DOI： 10.1055/s-0037-1598110

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN： 0174-304X            Impact factor:   1.947


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  7 in total

1.  Dorsal and Ventral Hippocampus Differentiate in Functional Pathways and Differentially Associate with Neurological Disease-Related Genes during Postnatal Development.

Authors:  A-Ram Lee; Jong-Hwan Kim; Eunsil Cho; Mirang Kim; Mikyoung Park
Journal:  Front Mol Neurosci       Date:  2017-10-16       Impact factor: 5.639

Review 2.  Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.

Authors:  Giacomo Garone; Alessandro Capuano; Lorena Travaglini; Federica Graziola; Fabrizia Stregapede; Ginevra Zanni; Federico Vigevano; Enrico Bertini; Francesco Nicita
Journal:  Int J Mol Sci       Date:  2020-05-20       Impact factor: 5.923

3.  Imputation-Based Whole-Genome Sequence Association Study Reveals Constant and Novel Loci for Hematological Traits in a Large-Scale Swine F2 Resource Population.

Authors:  Guorong Yan; Tianfu Guo; Shijun Xiao; Feng Zhang; Wenshui Xin; Tao Huang; Wenwu Xu; Yiping Li; Zhiyan Zhang; Lusheng Huang
Journal:  Front Genet       Date:  2018-10-22       Impact factor: 4.599

4.  FGF14-related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9.

Authors:  Julie Piarroux; Florence Riant; Véronique Humbertclaude; Ganaelle Remerand; Jessica Hadjadj; Franck Rejou; Christine Coubes; Lucile Pinson; Pierre Meyer; Agathe Roubertie
Journal:  Ann Clin Transl Neurol       Date:  2020-03-12       Impact factor: 4.511

Review 5.  Paroxysmal Movement Disorders.

Authors:  Susan Harvey; Mary D King; Kathleen M Gorman
Journal:  Front Neurol       Date:  2021-06-11       Impact factor: 4.003

Review 6.  Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype.

Authors:  Christopher L Groth; Brian D Berman
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2018-01-30

Review 7.  Episodic Ataxias: Faux or Real?

Authors:  Paola Giunti; Elide Mantuano; Marina Frontali
Journal:  Int J Mol Sci       Date:  2020-09-05       Impact factor: 5.923
  7 in total

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