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

Article	Citations
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	56
Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora Disease	49
Complex 4q35 and 10q26 Rearrangements	43
The Second Decade of Neurology® Genetics Beckons	36
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans	33
Paroxysmal Ataxia	33
Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics	33
Heterozygous HTRA1 Mutations Cause Cerebral Small Vessel Diseases	29
Identifying Aging and Alzheimer Disease–Associated Somatic Variations in Excitatory Neurons From the Human Frontal Cortex	27
Migraine, Stroke, and Cervical Arterial Dissection	26
Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts	26
Adaptive and Innate Immunity Are Key Drivers of Age at Onset of Multiple Sclerosis	24
Proceedings of the 28th International Stroke Genetics Consortium Workshop	20
PRRT 2 -Related Epilepsy	20
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia	19
Systemic Capillary Leak Syndrome With Cerebral Involvement in a C9orf72 Expansion Carrier	18
Progressive Apraxia of Speech as a Manifestation of Spinocerebellar Ataxia 2	18
Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene	18
Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome	16
Improvement of an External Predictive Model Based on New Information Using a Synthetic Data Approach	16
A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria	16
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	15
TARDBP Mutations in Facial-Onset Sensory and Motor Neuronopathy	15
SON -Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine	14
Immunotherapy Responsive Recurrent Post-Infectious Ataxia Associated With Recurrent ATP2B2 Gene Variant	14

Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy	14
Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1	13
Blood Biomarkers to Identify Renal Angiomyolipomas in People With Tuberous Sclerosis Complex	13
The Spectrum of Genetic Risk in Alzheimer Disease	13
Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1	13
Refining the Phenotypic and Genotypic Spectrum of WDR73 -Related Galloway-Mowat Syndrome	13
“Chocolate Chip Sign” on Susceptibility-Weighted Imaging	13
Cerebral Aneurysms and Recurrent TIAs in a 42-Year-Old Patient With DADA2 Mutation	13
Message From the Editors to Our Reviewers	12
Outcomes in Early-Treated Guanidinoacetate Methyltransferase Deficiency	12
TRPM8 Mutations Associated With Persistent Pain After Surgical Injury of Corneal Trigeminal Axons	12
Frameshift and Copy Number Variants in SACS -Related Neuropathy	12
Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy	12
RFC1 Repeat Distribution in the Cypriot Population	11
Expanding Clinical Spectrum of C9ORF72 -Related Disorders and Promising Therapeutic Strategies	11
Dissecting the Shared Genetic Architecture of Common Epilepsies With Cortical Brain Morphology	11
Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo	11
Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2	11
Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss	11
A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia	10
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A	10
Expanding the Phenotype Spectrum of β-Mannosidosis	10
A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation	10
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy	10
Genetic Testing for Malformations of Cortical Development	10
Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia	10
Homozygous SOD1 Variation L144S Produces a Severe Form of Amyotrophic Lateral Sclerosis in an Iranian Family	10
The Persistence of Duchenne vs Becker Muscular Dystrophies	10
Acid Ceramidase Deficiency	10
Unlocking Genetic Clues	9
The First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to Nonsynonymous POLR3B Mutations	9
Peripheral Neuropathy in p.Val142Ile (Val122Ile) Variant Hereditary Transthyretin-Mediated Amyloidosis	9
Integrating Genetic Structural Variations and Whole-Genome Sequencing Into Clinical Neurology	9
Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy	9
A Phenotypic Atlas for Huntington Disease Based on Data From the Enroll-HD Cohort Study	9
Novel SERAC1 Variant Presenting With Adult-Onset Extrapyramidal Dystonia-Parkinsonism Phenotype	9
Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype	9
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes	9
Long-Read Sequencing Unveils an Intronic ASPA Retrotransposon Variant Implicated in Canavan Disease	9
Parkinson Disease SNCA Risk Variants Are Associated With Higher Asymmetric Putamen Dopaminergic Dysfunction	8
IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia	8
Holistic Exome-Based Genetic Testing in Adults With Epilepsy	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
DNA Methylation of the Natriuretic Peptide System Genes and Ischemic Stroke	8
Parent-of-Origin Effect on the Age at Symptom Onset in Myotonic Dystrophy Type 2	8
Distinguishing Loss-of-Function and Gain-of-Function SCN8A Variants Using a Random Forest Classification Model Trained on Clinical Features	8
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation	8
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia	7
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy	7

Complete Agenesis of Corpus Callosum in KCNQ2 -Related Neonatal Epileptic Encephalopathy	7
Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1 -Related Disorder	7
Novel Neuroimaging Pattern in POLR3A -Related Disorder on 7T MRI	7
Clinical Deep Phenotyping of ABCA7 Mutation Carriers	7
Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3	7
Novel TOP3A Variant Associated With Mitochondrial Disease	7
Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia	7
Increased Serum Levels of miR-125b and miR-132 in Fragile X Syndrome	7
Expanding the Allelic Heterogeneity of ANO10 -Associated Autosomal Recessive Cerebellar Ataxia	7
Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing	6
Neuropathology-Independent Association Between APOE Genotype and Cognitive Decline Rate in the Normal Aging-Early Alzheimer Continuum	6
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants	6
Novel AIFM1 Variant in 2 Siblings With Sensorineural Hearing Loss and Cerebellar Ataxia	6
Migraine, Stroke, and Cervical Arterial Dissection	6
High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete	6
SLC29A3 Pathogenic Variants Resulting in Dural Based Fibroinflammatory Mass Lesions and H Syndrome Treated With Cobimetinib	6
Confirming Pathogenicity of the F386L PSEN1 Variant in a South Asian Family With Early-Onset Alzheimer Disease	6
Proceedings of the 27th International Stroke Genetics Consortium Workshop	6
Women With Genetic Epilepsies	6
Cerebellar Micro-RNA Profile in a Mouse Model of Spinocerebellar Ataxia Type 2	6
Adult Phenotype of SYNGAP1 -DEE	6
CSF1R -Related Disorder	6
Mild Malformation of Cortical Development With Oligodendroglial Hyperplasia and Epilepsy	6
TTN -Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant	6
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy	6
The Spastic Paraplegia–Centers of Excellence Research Network (SP-CERN)	6
Genome Sequencing in the Parkinson Disease Clinic	6