OOIR: Observatory of International Research

Papers

(The TQCC of Neurology-Genetics is 6. 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 2021-02-01 to 2025-02-01.)

Article	Citations
Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices	38
V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations	36
Association of Family History and Polygenic Risk Score With Longitudinal Prognosis in Parkinson Disease	30
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans	28
Phenotypic Spectrum of DNM2 -Related Centronuclear Myopathy	27
Parent-of-Origin Effect on the Age at Symptom Onset in Myotonic Dystrophy Type 2	26
Identifying Aging and Alzheimer Disease–Associated Somatic Variations in Excitatory Neurons From the Human Frontal Cortex	25
Alanyl-tRNA Synthetase 1 Gene Variants in Hereditary Neuropathy	23
DNA Methylation of the Natriuretic Peptide System Genes and Ischemic Stroke	22
Spinocerebellar Ataxia Type 2	21
Somatic Variants in SVIL in Cerebral Aneurysms	21
Identification of Sex-Specific Genetic Variants Associated With Tau PET	21
Novel Synonymous and Frameshift Variants in the TRIP12 Gene Identified in 2 Chinese Patients With Intellectual Disability	21
Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant	20
Role of Rho-Associated Kinase in the Pathophysiology of Cerebral Cavernous Malformations	20
CircPDS5B Reduction Improves Angiogenesis Following Ischemic Stroke by Regulating MicroRNA-223-3p/NOTCH2 Axis	19
Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia	18
Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis	18
Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia	18
Blended Phenotype of Prader-Willi Syndrome and HSP- SPG11 Caused by Maternal Uniparental Isodisomy	18
Predominant Spastic Paraparesis Associated With the D178N Mutation in PRNP	18
Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features	18
Clinicoradiologic Criteria for the Diagnosis of Stroke-like Episodes in MELAS	17
Complex 4q35 and 10q26 Rearrangements	17
Frequency and Phenotype Associations of Rare Variants in 5 Monogenic Cerebral Small Vessel Disease Genes in 200,000 UK Biobank Participants	16

WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase	16
Cerebellar Ataxia and Peripheral Neuropathy in a Family With PNPLA8 -Associated Disease	16
Erythromelalgia: A Child With V400M Mutation in the SCN9A Gene	15
TNNI1 Mutated in Autosomal Dominant Proximal Arthrogryposis	15
IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia	14
Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing	14
Paroxysmal Ataxia	14
Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics	14
Heterozygous HTRA1 Mutations Cause Cerebral Small Vessel Diseases	14
LBSL	13
Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication	13
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation	13
Distinguishing Loss-of-Function and Gain-of-Function SCN8A Variants Using a Random Forest Classification Model Trained on Clinical Features	12
LAMA2 -Related Muscular Dystrophy Across the Life Span	12
Association of HLA-DQA2 and HLA-B With Moyamoya Disease in the Chinese Han Population	12
Impact of MEK Inhibitor Therapy on Neurocognitive Functioning in NF1	12
New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra	12
Integrative Network-Based Analysis Reveals Gene Networks and Novel Drug Repositioning Candidates for Alzheimer Disease	12
Migraine, Stroke, and Cervical Arterial Dissection	11
ATP1A3 Disease Spectrum Includes Paroxysmal Weakness and Encephalopathy Not Triggered by Fever	11
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	11
Novel Biallelic Synonymous Exonic Variant in VPS13A Affecting mRNA Splicing	11
African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants	11
Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA- FGF14 -Related Ataxia	11
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy	11
Review of Phenotypic Heterogeneity of Neuronal Intranuclear Inclusion Disease and NOTCH2NLC -Related GGC Repeat Expansion Disorders	10
Migraine, Stroke, and Cervical Arterial Dissection	10
Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy	10
A Novel Pattern of Dystonia in DYT- VPS16	10
A Case of Multiple Intracranial Major Artery Stenoses With Coexisting PCSK9 p.E32K and RNF213 p.R4810K Variants	9
Global Presence and Penetrance of CSF1R -Related Disorder	9
Neurology ® Genetics Acknowledgment to Reviewers	9
Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping	9
Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts	9
Ataxia and Diplopia	9
Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathies	9
Genomic Diagnoses for Ectopic Intracerebral Calcifications	9
Blended Phenotype of NOTCH3 and RNF213 Variants With Accelerated Large and Small Artery Crosstalk	9
Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene	9
Familial Brain Calcifications With Leukoencephalopathy	9
Metabolic Malfunction Mars Muscle Mitochondria	8
Acknowledgment to Reviewers	8
FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual Disability	8
Novel Neuroimaging Pattern in POLR3A -Related Disorder on 7T MRI	8
Proceedings of the 28th International Stroke Genetics Consortium Workshop	8
Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3	8
Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus Callosum	8
Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network	7
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder	7
Miglustat Therapy for SCARB2 -Associated Action Myoclonus–Renal Failure Syndrome	7

Clonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic Spread	7
CSF MicroRNAs Reveal Impairment of Angiogenesis and Autophagy in Parkinson Disease	7
Clinical and Genetic Analysis of Patients With TK2 Deficiency	7
Pathogenic NOTCH3 Variants Are Frequent Among the Korean General Population	7
Polygenic Risk Scores Augment Stroke Subtyping	7
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain	7
Machine Learning Approach for the Prediction of Age-Specific Probability of SCA3 and DRPLA by Survival Curve Analysis	7
Friedreich Ataxia	7
A Window Into the Myofibrillar Myopathy Proteome	7
The Dose Makes the Poison	7
Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease	6
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4	6
Longitudinal Analysis of Respiratory Function of Different Types of Limb Girdle Muscular Dystrophies Reveals Independent Trajectories	6
Novel TOP3A Variant Associated With Mitochondrial Disease	6
Improvement of an External Predictive Model Based on New Information Using a Synthetic Data Approach	6
White Matter Hyperintensities and Cerebral Microbleeds in Ataxia-Telangiectasia	6
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia	6
V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations	6
Genetic and Phenotypic Variability in Siblings With Friedreich Ataxia	6
A Fast and Robust Strategy to Remove Variant-Level Artifacts in Alzheimer Disease Sequencing Project Data	6
Vanishing White Matter Disease Presenting as Dementia and Infertility	6
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene	6
Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region	6