Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients-Reference-Cited by-同舟云学术

Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients

Published:2017-07-23 Issue:6 Volume:81 Page:249-257
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Mészárosová Anna Uhrová¹^ORCID,Grečmalová Dagmar²,Brázdilová Michaela³,Dvořáčková Nina²,Kalina Zdeněk⁴,Čermáková Marie⁵,Vávrová Dagmar⁵,Smetanová Irena⁵,Staněk David¹,Seeman Pavel¹⁵

Affiliation:

1. DNA Laboratory, Department of Child Neurology; Charles University 2nd Medical School and University Hospital Motol; Prague Czech Republic

2. Department of Medical Genetics; Faculty Hospital Ostrava; Ostrava Czech Republic

3. Department of Child Neurology; Charles University 2nd Medical School and University Hospital Motol; Prague Czech Republic

4. Department of Medical Genetics; Faculty Hospital Brno; Brno Czech Republic

5. Centre for Medical Genetics and Reproductive Medicine GENNET; Prague Czech Republic

Funder

Ministerstvo Zdravotnictví Ceské Republiky

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ahg.12206/fullpdf

Reference26 articles.

1. Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A;Abel;Neurogenetics,2004

2. Hereditary spastic paraplegia associated with axonal neuropathy: a novel mutation of SPG3A in a large family;Al-Maawali;J Clin Neuromuscul Dis,2011

3. Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene;D'amico;Neurology,2004

4. Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia;Durr;Arch Neurol,2004

5. Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients;Elert-Dobkowska;J Neurol Sci,2015

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1. Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET;neurogenetics;2022-07-05

2. Extensive In Silico Analysis of ATL1 Gene : Discovered Five Mutations That May Cause Hereditary Spastic Paraplegia Type 3A;Scientifica;2020-03-27

3. Genotype–phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients;Journal of Neurology;2019-11-19

4. Genetics of hereditary spastic paraplegias;Neurologie pro praxi;2019-11-01

5. Extensive In Silico Analysis of ATL1 Gene: Discovered Five Mutations that may Cause Hereditary Spastic Paraplegia Type 3A;2019-10-25