| Antisense oligonucleotides |
24 |
| Genetic risk of Parkinson disease and progression: An analysis of 13 longitudinal cohorts |
22 |
| Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations |
12 |
| Impaired kidney structure and function in spinal muscular atrophy |
11 |
| Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes |
10 |
| AP4 deficiency A novel form of neurodegeneration with brain iron accumulation? |
10 |
| Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders |
9 |
| Anti-inflammatory effects of dietary vitamin D-3 in patients with multiple sclerosis |
9 |
| Psychometric properties of the Friedreich Ataxia Rating Scale |
9 |
| Delineating FOXG1 syndrome From congenital microcephaly to hyperkinetic encephalopathy |
9 |
| Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation |
8 |
| Diagnostic odyssey of patients with mitochondrial disease |
7 |
| Genome-wide brain DNA methylation analysis suggests epigenetic reprogramming in Parkinson disease |
7 |
| New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy |
7 |
| Oligogenic basis of sporadic ALS The example of SOD1 p.Ala90Val mutation |
7 |
| DMPK gene DNA methylation levels are associated with muscular and respiratory profiles in DM1 |
7 |
| Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype |
7 |
| Expanding the global prevalence of spinocerebellar ataxia type 42 |
6 |
| Brain somatic mutations in SLC3SA2 cause intractable epilepsy with aberrant N-glycosylation |
6 |
| ASFMR1 splice variant A predictor of fragile X-associated tremor/ataxia syndrome |
6 |
| Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23) |
6 |
| Genetic landscape of pediatric movement disorders and management implications |
6 |
| ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia |
6 |
| Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy |
5 |
| Congenital myopathies in the adult neuromuscular clinic Diagnostic challenges and pitfalls |
5 |
| Genotype-structure-phenotype relationships diverge in paralogs ATP1A ATP1A and ATP1A3 |
5 |
| Epilepsy with migrating focal seizures KCNT1 mutation hotspots and phenotype variability |
5 |
| Genomic variation in educational attainment modifies Alzheimer disease risk |
5 |
| Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants |
4 |
| Molecular pathogenesis of human CD59 deficiency |
4 |
| Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis |
4 |
| Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome |
4 |
| ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia |
4 |
| Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease |
4 |
| Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ |
4 |
| Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy |
4 |
| Alzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+) |
4 |
| Longitudinal analysis of contrast acuity in Friedreich ataxia |
4 |
| Noncoding repeat expansions for ALS in Japan are associated with the ATXN8OS gene |
4 |
| Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy |
4 |
| Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families |
4 |
| Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy |
4 |
| De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity |
4 |
| Plasticity-related gene 3 (LPPR1) and age at diagnosis of Parkinson disease |
4 |
| Increased KCNJ18 promoter activity as a mechanism in atypical normokalemic periodic paralysis |
4 |
| Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function |
3 |
| Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family |
3 |
| SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology |
3 |
| Association study between multiple system atrophy and TREM2 p.R47H |
3 |
| Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene |
3 |
