Literature DB >> 30363471

A 62-Year-Old Woman with Spastic Ataxia and Eye Movement Abnormalities.

Antonella Macerollo1,2, Davide Martino3,4.   

Abstract

Entities:  

Keywords:  HSP‐7; cerebellar syndrome; ocular movements disorder

Year:  2015        PMID： 30363471      PMCID： PMC6178611          DOI： 10.1002/mdc3.12227

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


× No keyword cloud information.
  5 in total

Review 1.  Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms.

Authors:  Sara Salinas; Christos Proukakis; Andrew Crosby; Thomas T Warner
Journal:  Lancet Neurol       Date:  2008-12       Impact factor: 44.182

2.  Functional evaluation of paraplegin mutations by a yeast complementation assay.

Authors:  Florian Bonn; Krishna Pantakani; Moneef Shoukier; Thomas Langer; Ashraf U Mannan
Journal:  Hum Mutat       Date:  2010-05       Impact factor: 4.878

3.  A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.

Authors:  Alessia Arnoldi; Alessandra Tonelli; Francesca Crippa; Gaetano Villani; Consiglia Pacelli; Manuela Sironi; Uberto Pozzoli; Maria Grazia D'Angelo; Giovanni Meola; Andrea Martinuzzi; Claudia Crimella; Francesca Redaelli; Chris Panzeri; Alessandra Renieri; Giacomo Pietro Comi; Anna Carla Turconi; Nereo Bresolin; Maria Teresa Bassi
Journal:  Hum Mutat       Date:  2008-04       Impact factor: 4.878

4.  Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.

Authors:  Koen L I van Gassen; Charlotte D C C van der Heijden; Susanne T de Bot; Wilfred F A den Dunnen; Leonard H van den Berg; Corien C Verschuuren-Bemelmans; H P H Kremer; Jan H Veldink; Erik-Jan Kamsteeg; Hans Scheffer; Bart P van de Warrenburg
Journal:  Brain       Date:  2012-09-10       Impact factor: 13.501

5.  SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.

Authors:  E Sánchez-Ferrero; E Coto; C Beetz; J Gámez; A I Corao; M Díaz; J Esteban; E del Castillo; G Moris; J Infante; M Menéndez; S I Pascual-Pascual; A López de Munaín; M J Garcia-Barcina; V Alvarez
Journal:  Clin Genet       Date:  2012-05-21       Impact factor: 4.438
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.