Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia-Reference-Cited by-同舟云学术

Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia

Published:2015-03-15 Issue:6 Volume:30 Page:854-858
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Kancheva Dahlia¹²³,Chamova Teodora⁴,Guergueltcheva Velina⁴,Mitev Vanio³,Azmanov Dimitar N.⁵⁶,Kalaydjieva Luba⁶,Tournev Ivailo⁴⁷,Jordanova Albena¹²³

Affiliation:

1. Molecular Neurogenomics Group; Department of Molecular Genetics; VIB Antwerp Belgium

2. Neurogenetics Laboratory, Institute Born-Bunge, University of Antwerp; Antwerp Belgium

3. Department of Medical Chemistry and Biochemistry; Molecular Medicine Center, Medical University-Sofia; Sofia Bulgaria

4. Department of Neurology; Medical University-Sofia; Sofia Bulgaria

5. Department of Diagnostic Genomics; PathWest, QEII Medical Centre; Nedlands WA Australia

6. Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia; Perth Australia

7. Department of Cognitive Science and Psychology; New Bulgarian University; Sofia Bulgaria

Funder

Research Fund of the University of Antwerp, Belgium

Fund for Scientific Research-Flanders, Belgium

Research Fund of the Medical University-Sofia, Bulgaria

Tom Wahlig Foundation, Jena, Germany

The Boehringer Ingelheim Fund, Germany

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mds.26196/fullpdf

Reference17 articles.

1. Mutations in the autoregulatory domain of β- tubulin 4a cause hereditary dystonia;Hersheson;Ann Neurol,2013

2. Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene;Lohmann;Ann Neurol,2013

3. A de novo mutation in the betatubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum;Simons;Am J Hum Genet,2013

4. Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene;Blumkin;Neurogenetics,2014

5. Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy;Purnell;Pediatr Neurol,2014

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4. Novel TUBB4A mutation in a family with hereditary spastic paraplegia;Acta Neurologica Belgica;2022-07-23

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