Latest Research in Genetic Neurodegenerative Diseases

Top Research Topics in Genetic Neurodegenerative Diseases

• Genomics and Rare Diseases — 6 papers
• Genetic Neurodegenerative Diseases — 5 papers
• Genomic variations and chromosomal abnormalities — 1 papers
• Genetic and Kidney Cyst Diseases — 1 papers
• Muscle Physiology and Disorders — 1 papers
• Liver Disease Diagnosis and Treatment — 1 papers
• Epilepsy research and treatment — 1 papers
• Genetics and Neurodevelopmental Disorders — 1 papers
• Parathyroid Disorders and Treatments — 1 papers
• Immune responses and vaccinations — 1 papers

Highest-Cited Papers

1. Nanopore long-read sequencing facilitates accurate diagnosis of KMT2B-related dystonia
2. Friedreich Ataxia: From Genetics to Mechanism to Clinical Features
3. Characterising the motif composition and allele length distribution of ZFHX3 GGC repeat expansions in amyotrophic lateral sclerosis
4. A De Novo 16p13.3 Triplication Underlying Early‐Onset Complex Neurodegeneration
5. Long-read sequencing reveals a hidden Alu-mediated splice defect in CPLANE1, causing orofaciodigital syndrome type VI
6. The hidden burden of structural variants in neurodegenerative and neuromuscular disorders
7. Nanopore Ultra-Long Sequencing for FSHD: From Molecular Diagnosis to Preimplantation Genetic Testing
8. Omics-based Decoding of Metabolic Dysfunction-associated Fatty Liver Disease: From Pathogenesis to Clinical Translation
9. Association for Clinical Genomic Science (ACGS) Best Practice Guidelines for Variant Classification in Rare Disease
10. Association for Clinical Genomic Science (ACGS) Best Practice Guidelines for Variant Classification in Rare Disease
11. Selectivity Filter KCND3 Variant Causes Spinocerebellar Ataxia 19/22 and K V 4 .3 Functional Loss
12. RAPID: a targeted long-read RNA workflow for functional resolution of splicing variants in rare disease
13. Precision therapeutics for early onset epilepsy: Allele-selective antisense oligonucleotides for SCN2A-related epilepsy
14. Rett syndrome in the therapeutic era: Rethinking diagnosis, boundaries, clinical outcomes, and financing
15. Characteristics of a Cohort of Individuals With SCA27B Associated With Repeat Expansions in FGF14
16. aiDIVA – hybrid AI for rare disease diagnostics using evidence-based, machine learning and language models
17. Optimized Cas9‐Enriched Nanopore Sequencing and Analysis Workflow for Clinical Diagnosis of Repeat Expansion Disorders
18. The isolated HEPN domain of SACSIN exhibits RNA-binding activity
19. Metabolic Memory in Cardiovascular Disease: Encoding, Propagation, and Therapeutic Targeting