Latest Research in Genetic Neurodegenerative Diseases

Top Research Topics in Genetic Neurodegenerative Diseases

• Genetic Neurodegenerative Diseases — 3 papers
• Genomics and Rare Diseases — 1 papers
• Lung Cancer Treatments and Mutations — 1 papers
• Cardiomyopathy and Myosin Studies — 1 papers
• Amyotrophic Lateral Sclerosis Research — 1 papers
• Autoimmune Neurological Disorders and Treatments — 1 papers
• Cardiovascular Effects of Exercise — 1 papers
• Congenital heart defects research — 1 papers
• Pharmacogenetics and Drug Metabolism — 1 papers
• Ion Transport and Channel Regulation — 1 papers

Highest-Cited Papers

1. Desmoplakin-Related Arrhythmogenic Cardiomyopathy Carriers and Desmosomal-Type Acantholysis: A Previous Description of the Keratinocyte “Fingerprint Sign”. Comment on Metze et al. Desmosomal-Type Acantholysis—A New Histologic Pattern Related to Mutat (1 citations)
2. Clinical and genotypic characterization of SETD5-related disorders using Human Phenotype Ontology-based profiling
3. In search of past genetics
4. Natural Missplicing Events Amplified by an Elusive Deep-Intronic MYBPC3 Variant Cause Hypertrophic Cardiomyopathy
5. A reproducible transcriptomic signature supports interpretation of metatranscript-only TTN variants in recessive titinopathy
6. Inclusion-Body Myopathy with Paget Disease of the Bone and Frontotemporal Dementia (IBMPFD) with SCN4A Mutation: Modifying Factor or Not?
7. Toe Walking: A Descriptive Comparison of Clinical Characteristics Across Sensorimotor and Sensory Neuropathy-Associated Genes
8. Cerebellar Atrophy in Pediatric-Onset Opsoclonus-Myoclonus-Ataxia Syndrome: A Large International Cohort Study.
9. Expanding the Phenotypic Spectrum of PRKD1 Gain-of-Function Syndrome: Congenital Heart Disease, Bilateral Carotid Dissections, and Ectodermal Dysplasia in an Adult Patient
10. Amplicon-based long-read sequencing for accurate CYP2D6 gene deletion and duplication detection using CYP2D7 as a reference gene
11. Multiple co-occurring genetic variants in an elderly patient with Liddle’s-like syndrome: a case report and literature review
12. Malignant hyperthermia associated with a variant of uncertain significance c.12146A>C (p.Glu4049Ala) in the RYR1 gene: a case report
13. Myotonic dystrophy type 1 – updates on mechanisms of multisystemic manifestations, genetically targeted therapeutics, and preparing for a postapproval world