Latest Research in Neurogenetic and Muscular Disorders Research
18 research papers · 2026 median publication year
Top Research Topics in Neurogenetic and Muscular Disorders Research
- Neurogenetic and Muscular Disorders Research — 4 papers
- Genomics and Rare Diseases — 2 papers
- Diet and metabolism studies — 1 papers
- Cellular transport and secretion — 1 papers
- Genomic variations and chromosomal abnormalities — 1 papers
- Skin and Cellular Biology Research — 1 papers
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities — 1 papers
- Cystic Fibrosis Research Advances — 1 papers
- Epilepsy research and treatment — 1 papers
- BRCA gene mutations in cancer — 1 papers
Highest-Cited Papers
- Epilepsy with myoclonic-atonic seizures: a comprehensive review with emphasis on current and emerging pharmacotherapies
- Extending the ATP9A ‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility
- Pubertal delay in patients with paternally derived 15q11.2–q13 duplication syndrome and MKRN3 overexpression
- PATAU SINDROMI (TRISOMIYA 13)
- TERNER SINDROMI (45,X)
- Population-Specific Carrier Frequencies in an Underrepresented Genetically Heterogeneous Population: Implications for Expanded Carrier Screening
- Expanding the neurobehavioral phenotype of HERC2-related disorder in the Amish
- Comparative Analysis of SMN2 Splicing Activity and Protein Production Following In Vitro Treatment with the Generic Risdiplam Drug Vapromin® and the Reference Drug Evrysdi®
- Genetic testing practices across European epilepsy centers: An ERN EpiCARE survey
- Rapid Genomic Testing: A Study of Institutional Utilization and Outcomes
- Analytical Study Showing a False-Negative Limitation of Deletion-Based Newborn Screening for Spinal Muscular Atrophy Using a Compound Heterozygous SMN1 Control
- A Single-Tube Nested PCR Method for SMN1 Deletion Detection in Spinal Muscular Atrophy
- Thrombus Metabolism‐Based Molecular Subtyping for Prognostic Risk Stratification in Acute Ischemic Stroke: A Preliminary Study
- Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland – part II – expert based recommendations for surveillance and management of side-effects
- Rare Variants May Influence Disease Risk and Clinical Features in Sporadic Late-Onset Chinese Parkinson’s Disease Patients
- Electrophysiological Correlates of Familial Dyslexia in Two Siblings: A Case Report
- Citywide implementation of a rapid whole-genome sequencing program for critically ill pediatric patients
- Correlation of polygenic risk score and clinical phenotype in patients with genetic generalized epilepsy