Neurology-Genetics

Papers
(The H4-Index of Neurology-Genetics is 19. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2020-11-01 to 2024-11-01.)
ArticleCitations
The SPID-GBA study43
Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy38
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy38
African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants36
Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes30
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?27
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants26
RFC1 -Related Disease26
PURA- Related Developmental and Epileptic Encephalopathy25
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE24
Revealing the Timeline of Structural MRI Changes in Premanifest to Manifest Huntington Disease23
Neuronal intranuclear inclusion disease presenting with an MELAS-like episode in chronic polyneuropathy23
Progressive Myoclonus Epilepsies22
Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease21
WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase21
Novel TUBA4A Variant Associated With Familial Frontotemporal Dementia21
Integrative Network-Based Analysis Reveals Gene Networks and Novel Drug Repositioning Candidates for Alzheimer Disease21
Expanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide Expansions20
Progress in Amyotrophic Lateral Sclerosis Gene Discovery20
Polygenic Risk Scores Augment Stroke Subtyping19
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