Identification of two compound heterozygousVPS13Alarge deletions in chorea‐acanthocytosis only by protein and quantitative DNA analysis-Reference-Cited by-同舟云学术

Identification of two compound heterozygousVPS13Alarge deletions in chorea‐acanthocytosis only by protein and quantitative DNA analysis

Published:2020-02-14 Issue:9 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Spieler Derek¹²³^ORCID,Velayos‐Baeza Antonio⁴^ORCID,Mühlbäck Alžbeta⁵⁶,Castrop Florian³,Maegerlein Christian⁷,Slotta‐Huspenina Julia⁸,Bader Benedikt⁹,Haslinger Bernhard³,Danek Adrian⁹

Affiliation:

1. Department of Psychosomatic Medicine and Psychotherapy Center for Mental Health Faculty of Medicine Albert‐Ludwigs‐Universität Freiburg Freiburg Germany

2. Institute of Epidemiology Mental Health Research Unit Helmholtz Zentrum München German Research Center for Environmental Health Neuherberg Germany

3. Department of Neurology Klinikum rechts der Isar Technische Universität München Munich Germany

4. Wellcome Centre for Human Genetics University of Oxford Oxford United Kingdom

5. kbo‐Isar‐Amper‐Klinikum Taufkirchen (Vils) Taufkirchen (Vils) Germany

6. Department of Neurology and Centre of Clinical Neuroscience First Faculty of Medicine Charles University and General University Hospital Prague Prague Czech Republic

7. Department of Neuroradiology Klinikum rechts der Isar Technische Universität München Munich Germany

8. Institut für Allgemeine Pathologie und Pathologische Anatomie der Technischen Universität München Klinikum rechts der Isar Technische Universität München Munich Germany

9. Neurologische Klinik und Poliklinik Ludwigs‐Maximilians Universität München Munich Germany

Funder

Advocacy for Neuroacanthocytosis Patients

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1179

Reference35 articles.

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2. Competitive organelle-specific adaptors recruit Vps13 to membrane contact sites

3. Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye

4. Frontal‐subcortical circuitry and behavior;Bonelli R. M.;Dialogues in Clinical Neuroscience,2007

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1. Chorea-echinocytosis caused by two novel compound heterozygous mutations in the VPS13A gene: a case report and literature review;2023-10-03

2. An Autopsy Series of Seven Cases of VPS13A Disease (Chorea‐Acanthocytosis);Movement Disorders;2023-09-05

3. Heterozygous VPS13A and PARK2 Mutations in a Patient with Parkinsonism and Seizures;Case Reports in Neurology;2021-06-11