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 2021-08-01 to 2025-08-01.)

Article	Citations
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans	46
Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics	39
Identifying Aging and Alzheimer Disease–Associated Somatic Variations in Excitatory Neurons From the Human Frontal Cortex	37
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	35
Migraine, Stroke, and Cervical Arterial Dissection	31
The Second Decade of Neurology® Genetics Beckons	30
Paroxysmal Ataxia	30
Complex 4q35 and 10q26 Rearrangements	30
Heterozygous HTRA1 Mutations Cause Cerebral Small Vessel Diseases	29
Proceedings of the 28th International Stroke Genetics Consortium Workshop	29
Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts	29
Adaptive and Innate Immunity Are Key Drivers of Age at Onset of Multiple Sclerosis	27
Tau Pathology Associated With Parkinsonism and Mutation of Mitochondrial DNA Helicase Gene TWNK	27
Improvement of an External Predictive Model Based on New Information Using a Synthetic Data Approach	24
Systemic Capillary Leak Syndrome With Cerebral Involvement in a C9orf72 Expansion Carrier	23
A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria	22
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia	22
Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome	21
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	20
Progressive Apraxia of Speech as a Manifestation of Spinocerebellar Ataxia 2	20
Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene	18
PRRT 2 -Related Epilepsy	18
CSF MicroRNAs Reveal Impairment of Angiogenesis and Autophagy in Parkinson Disease	17
Cerebral Aneurysms and Recurrent TIAs in a 42-Year-Old Patient With DADA2 Mutation	15
Refining the Phenotypic and Genotypic Spectrum of WDR73 -Related Galloway-Mowat Syndrome	15

Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1	15
Blood Biomarkers to Identify Renal Angiomyolipomas in People With Tuberous Sclerosis Complex	15
TARDBP Mutations in Facial-Onset Sensory and Motor Neuronopathy	15
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy	14
The Spectrum of Genetic Risk in Alzheimer Disease	14
Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness	13
Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1	13
Adult-Onset Spinal Muscular Atrophy due to Mutations in the VRK1 Gene	12
Immunotherapy Responsive Recurrent Post-Infectious Ataxia Associated With Recurrent ATP2B2 Gene Variant	12
“Chocolate Chip Sign” on Susceptibility-Weighted Imaging	12
SON -Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine	12
The Persistence of Duchenne vs Becker Muscular Dystrophies	11
TRPM8 Mutations Associated With Persistent Pain After Surgical Injury of Corneal Trigeminal Axons	11
Recessive COL4A2 Mutation Leads to Intellectual Disability, Epilepsy, and Spastic Cerebral Palsy	11
Genetic Testing for Malformations of Cortical Development	11
Expanding Clinical Spectrum of C9ORF72 -Related Disorders and Promising Therapeutic Strategies	11
Outcomes in Early-Treated Guanidinoacetate Methyltransferase Deficiency	11
Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo	11
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy	11
RFC1 Repeat Distribution in the Cypriot Population	11
Diagnosis of Shashi-Pena Syndrome Caused by Chromosomal Rearrangement Using Nanopore Sequencing	11
Message From the Editors to Our Reviewers	11
Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy	11
Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss	11
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A	10
Novel Mutation of the TGF-β 3 Protein (Loeys-Dietz Type 5) Associated With Aortic and Carotid Dissections	10
Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia	10
Occurrence of Amyotrophic Lateral Sclerosis in Type 1 Gaucher Disease	9
A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation	9
PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1	9
Genetic and Functional Analysis of Glycosyltransferase 8 Domain–Containing Protein 1 in Taiwanese Patients With Amyotrophic Lateral Sclerosis	9
Dissecting the Shared Genetic Architecture of Common Epilepsies With Cortical Brain Morphology	9
Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2	9
Adult-Onset Ataxia With Neuropathy and White Matter Abnormalities Due to a Novel SAMD9L Variant	9
Homozygous SOD1 Variation L144S Produces a Severe Form of Amyotrophic Lateral Sclerosis in an Iranian Family	9
Case of Neuronal Intranuclear Inclusion Disease With Dynamic Perfusion Changes Lacking Typical Signs on Diffusion-Weighted Imaging	9
Acid Ceramidase Deficiency	9
A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia	9
A Phenotypic Atlas for Huntington Disease Based on Data From the Enroll-HD Cohort Study	9
Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy	9
LAMA2 -Related Muscular Dystrophy Across the Life Span	8
Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA- FGF14 -Related Ataxia	8
The First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to Nonsynonymous POLR3B Mutations	8
Integrating Genetic Structural Variations and Whole-Genome Sequencing Into Clinical Neurology	8
Parent-of-Origin Effect on the Age at Symptom Onset in Myotonic Dystrophy Type 2	8
Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia	8
Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication	8
Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype	8
IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia	8
Distinguishing Loss-of-Function and Gain-of-Function SCN8A Variants Using a Random Forest Classification Model Trained on Clinical Features	8

Integrative Network-Based Analysis Reveals Gene Networks and Novel Drug Repositioning Candidates for Alzheimer Disease	8
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation	8
Novel SERAC1 Variant Presenting With Adult-Onset Extrapyramidal Dystonia-Parkinsonism Phenotype	8
DNA Methylation of the Natriuretic Peptide System Genes and Ischemic Stroke	8
Unlocking Genetic Clues	8
Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1 -Related Disorder	7
Novel TOP3A Variant Associated With Mitochondrial Disease	7
Clinical Deep Phenotyping of ABCA7 Mutation Carriers	7
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia	7
Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3	7
Holistic Exome-Based Genetic Testing in Adults With Epilepsy	7
Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia	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
Expanding the Allelic Heterogeneity of ANO10 -Associated Autosomal Recessive Cerebellar Ataxia	7
TTN -Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant	6
SMN1 Duplications Are Associated With Progressive Muscular Atrophy, but Not With Multifocal Motor Neuropathy and Primary Lateral Sclerosis	6
Adult Phenotype of SYNGAP1 -DEE	6
Mild Malformation of Cortical Development With Oligodendroglial Hyperplasia and Epilepsy	6
Confirming Pathogenicity of the F386L PSEN1 Variant in a South Asian Family With Early-Onset Alzheimer Disease	6
PURA- Related Developmental and Epileptic Encephalopathy	6
Increased Serum Levels of miR-125b and miR-132 in Fragile X Syndrome	6
KCNQ2 Encephalopathy Manifesting With Rett-like Features	6
Neuropathology-Independent Association Between APOE Genotype and Cognitive Decline Rate in the Normal Aging-Early Alzheimer Continuum	6
SLC29A3 Pathogenic Variants Resulting in Dural Based Fibroinflammatory Mass Lesions and H Syndrome Treated With Cobimetinib	6
High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete	6
Proceedings of the 27th International Stroke Genetics Consortium Workshop	6
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants	6
Complete Agenesis of Corpus Callosum in KCNQ2 -Related Neonatal Epileptic Encephalopathy	6
Phenotype of Patients With Charcot-Marie-Tooth With the p.His123Arg Mutation in GDAP1 in Northern Finland	6
CSF1R -Related Disorder	6
Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing	6