Neurodevelopmental Gene‐Related Dystonia‐Parkinsonism with Onset in Adults: A Case with <scp> <i>NAA15</i> </scp> Variant-Reference-Cited by-同舟云学术

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Neurodevelopmental Gene‐Related Dystonia‐Parkinsonism with Onset in Adults: A Case with NAA15 Variant

Published:2022-06-22 Issue:9 Volume:37 Page:1955-1957
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Movement Disorders

Author:

Straka Igor¹,Švantnerová Jana¹,Minár Michal¹^ORCID,Stanková Simona¹,Zech Michael²³^ORCID

Affiliation:

1. Second Department of Neurology, Faculty of Medicine Comenius University, University Hospital Bratislava Bratislava Slovakia

2. Institute of Neurogenomics, Helmholtz Zentrum München Munich Germany

3. Institute of Human Genetics, School of Medicine Technical University of Munich Munich Germany

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.29125

Reference7 articles.

1. Monogenic variants in dystonia: an exome-wide sequencing study

2. Neural stem cells in Parkinson’s disease: a role for neurogenesis defects in onset and progression

3. Neuropathological Findings in a Case of Parkinsonism and Developmental Delay Associated with a Monoallelic Variant in PLXNA1

4. Loss‐of‐Function Mutations in NR4A2 Cause Dopa‐Responsive Dystonia Parkinsonism

5. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

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1. PPP2R5D heterozygous pathogenic variant causes early-onset parkinsonism and treatment implications: A case report;Parkinsonism & Related Disorders;2024-07

2. Adult‐Onset Parkinsonism as Late Manifestation of HIVEP2‐Associated Developmental Disorder;Movement Disorders Clinical Practice;2024-06-28

3. Longitudinal adaptive behavioral outcomes in Ogden syndrome by seizure status and therapeutic intervention;American Journal of Medical Genetics Part A;2024-05-15

4. A Natural History ofNAA15-related Neurodevelopmental Disorder Through Adolescence;2024-04-22

5. Cortical Myoclonus and Complex Paroxysmal Dyskinesias in a Patient with NAA15 Variant;Movement Disorders;2024-04-21

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