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 2021-10-01 to 2025-10-01.)

Article	Citations
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	49
Heterozygous HTRA1 Mutations Cause Cerebral Small Vessel Diseases	45
Migraine, Stroke, and Cervical Arterial Dissection	38
Complex 4q35 and 10q26 Rearrangements	37
Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts	32
The Second Decade of Neurology® Genetics Beckons	32
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans	31
Adaptive and Innate Immunity Are Key Drivers of Age at Onset of Multiple Sclerosis	30
Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics	30
Paroxysmal Ataxia	30
Identifying Aging and Alzheimer Disease–Associated Somatic Variations in Excitatory Neurons From the Human Frontal Cortex	30
Proceedings of the 28th International Stroke Genetics Consortium Workshop	28
Improvement of an External Predictive Model Based on New Information Using a Synthetic Data Approach	27
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	24
Tau Pathology Associated With Parkinsonism and Mutation of Mitochondrial DNA Helicase Gene TWNK	24
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia	23
A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria	23
Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome	23
Progressive Apraxia of Speech as a Manifestation of Spinocerebellar Ataxia 2	20
Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene	19
PRRT 2 -Related Epilepsy	18
Systemic Capillary Leak Syndrome With Cerebral Involvement in a C9orf72 Expansion Carrier	17
CSF MicroRNAs Reveal Impairment of Angiogenesis and Autophagy in Parkinson Disease	16
TARDBP Mutations in Facial-Onset Sensory and Motor Neuronopathy	16
Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1	16

Cerebral Aneurysms and Recurrent TIAs in a 42-Year-Old Patient With DADA2 Mutation	15
SON -Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine	15
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy	15
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
Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness	13
Blood Biomarkers to Identify Renal Angiomyolipomas in People With Tuberous Sclerosis Complex	13
Refining the Phenotypic and Genotypic Spectrum of WDR73 -Related Galloway-Mowat Syndrome	13
“Chocolate Chip Sign” on Susceptibility-Weighted Imaging	13
The Spectrum of Genetic Risk in Alzheimer Disease	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
Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy	12
Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo	11
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A	11
Acid Ceramidase Deficiency	11
Diagnosis of Shashi-Pena Syndrome Caused by Chromosomal Rearrangement Using Nanopore Sequencing	11
A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation	11
Genetic Testing for Malformations of Cortical Development	11
Homozygous SOD1 Variation L144S Produces a Severe Form of Amyotrophic Lateral Sclerosis in an Iranian Family	11
Expanding Clinical Spectrum of C9ORF72 -Related Disorders and Promising Therapeutic Strategies	11
Novel Mutation of the TGF-β 3 Protein (Loeys-Dietz Type 5) Associated With Aortic and Carotid Dissections	11
RFC1 Repeat Distribution in the Cypriot Population	10
Adult-Onset Ataxia With Neuropathy and White Matter Abnormalities Due to a Novel SAMD9L Variant	10
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy	10
A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia	10
The Persistence of Duchenne vs Becker Muscular Dystrophies	10
Dissecting the Shared Genetic Architecture of Common Epilepsies With Cortical Brain Morphology	10
Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia	10
Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss	10
Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2	9
Peripheral Neuropathy in p.Val142Ile (Val122Ile) Variant Hereditary Transthyretin-Mediated Amyloidosis	9
Genetic and Functional Analysis of Glycosyltransferase 8 Domain–Containing Protein 1 in Taiwanese Patients With Amyotrophic Lateral Sclerosis	9
Integrative Network-Based Analysis Reveals Gene Networks and Novel Drug Repositioning Candidates for Alzheimer Disease	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
Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype	9
A Phenotypic Atlas for Huntington Disease Based on Data From the Enroll-HD Cohort Study	9
Integrating Genetic Structural Variations and Whole-Genome Sequencing Into Clinical Neurology	9
The First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to Nonsynonymous POLR3B Mutations	9
Novel SERAC1 Variant Presenting With Adult-Onset Extrapyramidal Dystonia-Parkinsonism Phenotype	9
Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA- FGF14 -Related Ataxia	8
Unlocking Genetic Clues	8
Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication	8
Holistic Exome-Based Genetic Testing in Adults With Epilepsy	8
LAMA2 -Related Muscular Dystrophy Across the Life Span	8
DNA Methylation of the Natriuretic Peptide System Genes and Ischemic Stroke	8
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation	8
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy	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
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia	8
Parent-of-Origin Effect on the Age at Symptom Onset in Myotonic Dystrophy Type 2	8
Clinical Deep Phenotyping of ABCA7 Mutation Carriers	7
Novel Neuroimaging Pattern in POLR3A -Related Disorder on 7T MRI	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
Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1 -Related Disorder	7
Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia	7
PURA- Related Developmental and Epileptic Encephalopathy	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
Adult Phenotype of SYNGAP1 -DEE	7
Phenotype of Patients With Charcot-Marie-Tooth With the p.His123Arg Mutation in GDAP1 in Northern Finland	6
Complete Agenesis of Corpus Callosum in KCNQ2 -Related Neonatal Epileptic Encephalopathy	6
SLC29A3 Pathogenic Variants Resulting in Dural Based Fibroinflammatory Mass Lesions and H Syndrome Treated With Cobimetinib	6
The Spastic Paraplegia–Centers of Excellence Research Network (SP-CERN)	6
Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing	6
Mild Malformation of Cortical Development With Oligodendroglial Hyperplasia and Epilepsy	6
Neuropathology-Independent Association Between APOE Genotype and Cognitive Decline Rate in the Normal Aging-Early Alzheimer Continuum	6
High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete	6
CSF1R -Related Disorder	6
Effect of the RNF213 p.R4810K Variant on the Progression of Intracranial Artery Stenosis	6
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants	6
Confirming Pathogenicity of the F386L PSEN1 Variant in a South Asian Family With Early-Onset Alzheimer Disease	6
TTN -Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant	6
Proceedings of the 27th International Stroke Genetics Consortium Workshop	6
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy	6