Literature DB >> 28660440

Neurocognitive Characterization of an SCA28 Family Caused by a Novel AFG3L2 Gene Mutation.

Laszlo Szpisjak1, Viola L Nemeth1, Noemi Szepfalusi1, Denes Zadori1, Zoltan Maroti2, Tibor Kalmar2, Laszlo Vecsei1,3, Peter Klivenyi4.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2017        PMID： 28660440     DOI： 10.1007/s12311-017-0870-9

Source DB:  PubMed          Journal:  Cerebellum        ISSN： 1473-4222            Impact factor:   3.847


× No keyword cloud information.
  32 in total

1.  Trail Making Test A and B: normative data stratified by age and education.

Authors:  Tom N Tombaugh
Journal:  Arch Clin Neuropsychol       Date:  2004-03       Impact factor: 2.813

2.  Cognitive dysfunction in spinocerebellar ataxia type 3: variable topographies and patterns.

Authors:  Pedro Braga-Neto; Livia Almeida Dutra; José Luiz Pedroso; Orlando G P Barsottini
Journal:  Mov Disord       Date:  2013-12-11       Impact factor: 10.338

3.  Longitudinal study of cognitive and psychiatric functions in spinocerebellar ataxia types 1 and 2.

Authors:  Roberto Fancellu; Dominga Paridi; Chiara Tomasello; Marta Panzeri; Anna Castaldo; Silvia Genitrini; Paola Soliveri; Floriano Girotti
Journal:  J Neurol       Date:  2013-12       Impact factor: 4.849

4.  Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis.

Authors:  B P C van de Warrenburg; R J Sinke; C C Verschuuren-Bemelmans; H Scheffer; E R Brunt; P F Ippel; J A Maat-Kievit; D Dooijes; N C Notermans; D Lindhout; N V A M Knoers; H P H Kremer
Journal:  Neurology       Date:  2002-03-12       Impact factor: 9.910

Review 5.  Consensus Paper: Revisiting the Symptoms and Signs of Cerebellar Syndrome.

Authors:  Florian Bodranghien; Amy Bastian; Carlo Casali; Mark Hallett; Elan D Louis; Mario Manto; Peter Mariën; Dennis A Nowak; Jeremy D Schmahmann; Mariano Serrao; Katharina Marie Steiner; Michael Strupp; Caroline Tilikete; Dagmar Timmann; Kim van Dun
Journal:  Cerebellum       Date:  2016-06       Impact factor: 3.847

6.  SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy.

Authors:  Kirsten Svenstrup; Troels Tolstrup Nielsen; Frederik Aidt; Nina Rostgaard; Morten Duno; Flemming Wibrand; Tua Vinther-Jensen; Ian Law; John Vissing; Peter Roos; Lena Elisabeth Hjermind; Jørgen Erik Nielsen
Journal:  Cerebellum       Date:  2017-02       Impact factor: 3.847

7.  Cognitive impairment in young adults with infratentorial infarcts.

Authors:  J Malm; B Kristensen; T Karlsson; B Carlberg; M Fagerlund; T Olsson
Journal:  Neurology       Date:  1998-08       Impact factor: 9.910

8.  A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28.

Authors:  Anna Mareike Löbbe; Jun-Suk Kang; Rüdiger Hilker; Holger Hackstein; Ulrich Müller; Dagmar Nolte
Journal:  J Mol Neurosci       Date:  2013-11-29       Impact factor: 3.444

9.  Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis.

Authors:  Caterina Mariotti; Alfredo Brusco; Daniela Di Bella; Claudia Cagnoli; Marco Seri; Cinzia Gellera; Stefano Di Donato; Franco Taroni
Journal:  Cerebellum       Date:  2008       Impact factor: 3.847

10.  Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.

Authors:  Gráinne S Gorman; Gerald Pfeffer; Helen Griffin; Emma L Blakely; Marzena Kurzawa-Akanbi; Jessica Gabriel; Kamil Sitarz; Mark Roberts; Benedikt Schoser; Angela Pyle; Andrew M Schaefer; Robert McFarland; Douglass M Turnbull; Rita Horvath; Patrick F Chinnery; Robert W Taylor
Journal:  JAMA Neurol       Date:  2015-01       Impact factor: 18.302
View more
  3 in total

1.  Unique Structural Features of the Mitochondrial AAA+ Protease AFG3L2 Reveal the Molecular Basis for Activity in Health and Disease.

Authors:  Cristina Puchades; Bojian Ding; Albert Song; R Luke Wiseman; Gabriel C Lander; Steven E Glynn
Journal:  Mol Cell       Date:  2019-07-18       Impact factor: 17.970

Review 2.  Spinocerebellar ataxia type 28 in a Chinese pedigree: A case report and literature review.

Authors:  Xiaoyang Liu; Linlin Wang; Jiajun Chen; Chunyang Kang; Jia Li
Journal:  Medicine (Baltimore)       Date:  2021-12-17       Impact factor: 1.817

3.  Expanding the clinical and genetic heterogeneity of SPAX5.

Authors:  Claudia Dosi; Daniele Galatolo; Anna Rubegni; Stefano Doccini; Rosa Pasquariello; Claudia Nesti; Federico Sicca; Melissa Barghigiani; Roberta Battini; Alessandra Tessa; Filippo M Santorelli
Journal:  Ann Clin Transl Neurol       Date:  2020-04-01       Impact factor: 4.511
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.