Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene-Reference-Cited by-同舟云学术

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Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene

Published:2017-03-22 Issue:5 Volume:24 Page:741-747
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:Eur J Neurol

Author:

Krenn M.¹^ORCID,Zulehner G.¹,Hotzy C.¹,Rath J.¹,Stogmann E.¹,Wagner M.²³,Haack T. B.²,Strom T. M.²⁴,Zimprich A.¹,Zimprich F.¹

Affiliation:

1. Department of Neurology; Medical University of Vienna; Vienna Austria

2. Institute of Human Genetics; Technical University Munich; Munich Germany

3. Institute of Neurogenomics; Helmholtz Zentrum München; Neuherberg Germany

4. Institute of Human Genetics; Helmholtz Zentrum München; Neuherberg Germany

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ene.13279/fullpdf

Reference18 articles.

1. The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies;Ruano;Neuroepidemiology,2014

2. Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms;Fink;Acta Neuropathol,2013

3. Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology;Tesson;Hum Genet,2015

4. Recent advances in the genetics of spastic paraplegias;Stevanin;Curr Neurol Neurosci Rep,2008

5. Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis;Erlich;Genome Res,2011

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1. Cryo-EM unveils kinesin KIF1A’s processivity mechanism and the impact of its pathogenic variant P305L;Nature Communications;2024-07-02

2. Identification of an in-frame homozygous KIF1A variant causing a mild SPG30 phenotype in a Korean family;Gene;2023-06

3. Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients;Genes;2023-04-25

4. Cryo-EM Unveils the Processivity Mechanism of Kinesin KIF1A and the Impact of its Pathogenic Variant P305L;2023-02-03

5. Positive charge in the K-loop of the kinesin-3 motor KIF1A regulates superprocessivity by enhancing microtubule affinity in the one-head–bound state;Journal of Biological Chemistry;2023-02

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