Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease-Reference-Cited by-同舟云学术

Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease

Published:2022-08 Issue:8 Volume:65 Page:104537
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Marais Anett^ORCID,Bertoli-Avella Aida M.,Beetz Christian,Altunoglu Umut,Alhashem Amal,Mohamed Sarar,Alghamdi Abdulaziz,Willems Patrick,Tsoutsou Eirini,Fryssira Helena,Pons Roser,Almarzooq Reem,Karatoprak Elif Yüksel,Ayaz Akif,Ünverengil Gökçen,Calvo Maria,Yüksel Zafer^ORCID,Bauer Peter

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference19 articles.

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2. Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures;Böhm;J. Med. Genet.,2019

3. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism;Bonifati;Science,2003

4. The neurodegenerative diseases ALS and SMA are linked at the molecular level via the ASC-1 complex;Chi;Nucleic Acids Res.,2018

5. The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease;Davignon;Hum. Mol. Genet.,2016

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1. ASCC1 structures and bioinformatics reveal a novel helix-clasp-helix RNA-binding motif linked to a two-histidine phosphodiesterase;Journal of Biological Chemistry;2024-06

2. ‘A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy’;Journal of Neuromuscular Diseases;2024-01-02

3. Novel and nano-rare genetic causes of paediatric-onset motor neuronopathies;Brain Communications;2023-12-28

4. Clinical phenotype and next-generation sequencing as essential tools for the diagnosis of a rare form of congenital myopathy due to a TRIP4 intragenic deletion;Neurological Sciences;2023-10-04