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 2022-04-01 to 2026-04-01.)

Article	Citations
Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora Disease	71
The Second Decade of Neurology® Genetics Beckons	49
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans	40
Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics	37
Paroxysmal Ataxia	33
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	31
Heterozygous HTRA1 Mutations Cause Cerebral Small Vessel Diseases	29
Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts	28
International Survey on Genetic Literacy and Awareness in Patients With Spinal and Bulbar Muscular Atrophy	27
Identifying Aging and Alzheimer Disease–Associated Somatic Variations in Excitatory Neurons From the Human Frontal Cortex	26
Complex 4q35 and 10q26 Rearrangements	20
Adaptive and Innate Immunity Are Key Drivers of Age at Onset of Multiple Sclerosis	20
Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome	19
Proceedings of the 28th International Stroke Genetics Consortium Workshop	19
A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria	18
PRRT 2 -Related Epilepsy	18
Progressive Apraxia of Speech as a Manifestation of Spinocerebellar Ataxia 2	17
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia	17
Improvement of an External Predictive Model Based on New Information Using a Synthetic Data Approach	17
Systemic Capillary Leak Syndrome With Cerebral Involvement in a C9orf72 Expansion Carrier	16
Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene	16
The Genetics of TDP-43 Type C Neurodegeneration	15
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	15
Blood Biomarkers to Identify Renal Angiomyolipomas in People With Tuberous Sclerosis Complex	14
Refining the Phenotypic and Genotypic Spectrum of WDR73 -Related Galloway-Mowat Syndrome	14

DEGS1 -Related Hypomyelinating Leukodystrophy	14
Immunotherapy Responsive Recurrent Post-Infectious Ataxia Associated With Recurrent ATP2B2 Gene Variant	14
Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1	14
Cerebral Aneurysms and Recurrent TIAs in a 42-Year-Old Patient With DADA2 Mutation	14
TARDBP Mutations in Facial-Onset Sensory and Motor Neuronopathy	14
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy	13
Frameshift and Copy Number Variants in SACS -Related Neuropathy	13
Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1	13
“Chocolate Chip Sign” on Susceptibility-Weighted Imaging	13
SON -Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine	13
The Spectrum of Genetic Risk in Alzheimer Disease	13
Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy	12
Message From the Editors to Our Reviewers	12
Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo	12
Outcomes in Early-Treated Guanidinoacetate Methyltransferase Deficiency	12
Utility of Targeted RNA Analysis in Neurogenetic Disorders	11
A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia	11
Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2	11
Genetic Testing for Malformations of Cortical Development	11
TRPM8 Mutations Associated With Persistent Pain After Surgical Injury of Corneal Trigeminal Axons	11
RFC1 Repeat Distribution in the Cypriot Population	11
Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss	11
Augmenting Diagnostic Yield From Genomic Sequencing	11
Expanding Clinical Spectrum of C9ORF72 -Related Disorders and Promising Therapeutic Strategies	11
A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation	11
Expanding the Phenotype Spectrum of β-Mannosidosis	11
The Persistence of Duchenne vs Becker Muscular Dystrophies	10
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A	10
Dissecting the Shared Genetic Architecture of Common Epilepsies With Cortical Brain Morphology	10
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy	10
Acid Ceramidase Deficiency	10
Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia	10
The First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to Nonsynonymous POLR3B Mutations	9
Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy	9
Long-Read Sequencing Unveils an Intronic ASPA Retrotransposon Variant Implicated in Canavan Disease	9
A Phenotypic Atlas for Huntington Disease Based on Data From the Enroll-HD Cohort Study	9
Parkinson Disease SNCA Risk Variants Are Associated With Higher Asymmetric Putamen Dopaminergic Dysfunction	9
Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype	9
Peripheral Neuropathy in p.Val142Ile (Val122Ile) Variant Hereditary Transthyretin-Mediated Amyloidosis	9
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes	9
Unlocking Genetic Clues	9
Integrating Genetic Structural Variations and Whole-Genome Sequencing Into Clinical Neurology	9
Novel SERAC1 Variant Presenting With Adult-Onset Extrapyramidal Dystonia-Parkinsonism Phenotype	9
DNA Methylation of the Natriuretic Peptide System Genes and Ischemic Stroke	8
Distinguishing Loss-of-Function and Gain-of-Function SCN8A Variants Using a Random Forest Classification Model Trained on Clinical Features	8
Novel TOP3A Variant Associated With Mitochondrial Disease	8
Parent-of-Origin Effect on the Age at Symptom Onset in Myotonic Dystrophy Type 2	8
Plasma isomiRs as Candidate Biomarkers for Amyotrophic Lateral Sclerosis	8
Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA- FGF14 -Related Ataxia	8
LAMA2 -Related Muscular Dystrophy Across the Life Span	8

IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia	8
Expanding the Allelic Heterogeneity of ANO10 -Associated Autosomal Recessive Cerebellar Ataxia	8
Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1 -Related Disorder	7
Increased Serum Levels of miR-125b and miR-132 in Fragile X Syndrome	7
Complete Agenesis of Corpus Callosum in KCNQ2 -Related Neonatal Epileptic Encephalopathy	7
Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia	7
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia	7
Holistic Exome-Based Genetic Testing in Adults With Epilepsy	7
Expanding the Clinicoradiologic Phenotype of the CTSA -Associated Small Vessel Disease CARASAL	7
Mild Malformation of Cortical Development With Oligodendroglial Hyperplasia and Epilepsy	7
Novel Neuroimaging Pattern in POLR3A -Related Disorder on 7T MRI	7
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy	7
Clinical Deep Phenotyping of ABCA7 Mutation Carriers	7
High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete	7
Immune Cell Mitochondrial Phenotypes Are Largely Preserved in Mitochondrial Diseases and Do Not Reflect Disease Severity	7
Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3	7
CSF1R -Related Disorder	6
Adult Phenotype of SYNGAP1 -DEE	6
Pediatric Cohort of Charcot-Marie-Tooth Disease	6
TTN -Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant	6
Migraine, Stroke, and Cervical Arterial Dissection	6
Genome Sequencing in the Parkinson Disease Clinic	6
Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing	6
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants	6
SLC29A3 Pathogenic Variants Resulting in Dural Based Fibroinflammatory Mass Lesions and H Syndrome Treated With Cobimetinib	6
Cerebellar Micro-RNA Profile in a Mouse Model of Spinocerebellar Ataxia Type 2	6
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy	6
Women With Genetic Epilepsies	6
Neuropathology-Independent Association Between APOE Genotype and Cognitive Decline Rate in the Normal Aging-Early Alzheimer Continuum	6
Investigating the Genetic Relationship Between Vitamin B12 Metabolism and Parkinson Disease	6
Proceedings of the 27th International Stroke Genetics Consortium Workshop	6
Effect of the RNF213 p.R4810K Variant on the Progression of Intracranial Artery Stenosis	6
Novel AIFM1 Variant in 2 Siblings With Sensorineural Hearing Loss and Cerebellar Ataxia	6
Case of Autosomal Dominant Alzheimer Disease With Negative Findings From PiB-PET Examination	6