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 2021-05-01 to 2025-05-01.)

Article	Citations
Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts	42
African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants	33
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	32
Paroxysmal Ataxia	30
The Second Decade of Neurology® Genetics Beckons	30
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans	28
Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics	27
Migraine, Stroke, and Cervical Arterial Dissection	27
Complex 4q35 and 10q26 Rearrangements	26
Heterozygous HTRA1 Mutations Cause Cerebral Small Vessel Diseases	26
Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome	25
Identifying Aging and Alzheimer Disease–Associated Somatic Variations in Excitatory Neurons From the Human Frontal Cortex	25
Adaptive and Innate Immunity Are Key Drivers of Age at Onset of Multiple Sclerosis	24
CSF MicroRNAs Reveal Impairment of Angiogenesis and Autophagy in Parkinson Disease	23
Proceedings of the 28th International Stroke Genetics Consortium Workshop	21
Progressive Apraxia of Speech as a Manifestation of Spinocerebellar Ataxia 2	20
A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria	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	19
Tau Pathology Associated With Parkinsonism and Mutation of Mitochondrial DNA Helicase Gene TWNK	18
Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene	18
Improvement of an External Predictive Model Based on New Information Using a Synthetic Data Approach	17
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	17
TARDBP Mutations in Facial-Onset Sensory and Motor Neuronopathy	16
Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness	16

Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1	14
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy	14
Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1	14
Adult-Onset Spinal Muscular Atrophy due to Mutations in the VRK1 Gene	14
SON -Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine	13
Cerebral Aneurysms and Recurrent TIAs in a 42-Year-Old Patient With DADA2 Mutation	13
Immunotherapy Responsive Recurrent Post-Infectious Ataxia Associated With Recurrent ATP2B2 Gene Variant	12
“Chocolate Chip Sign” on Susceptibility-Weighted Imaging	12
Message From the Editors to Our Reviewers	12
The Spectrum of Genetic Risk in Alzheimer Disease	12
Diagnosis of Shashi-Pena Syndrome Caused by Chromosomal Rearrangement Using Nanopore Sequencing	11
Recessive COL4A2 Mutation Leads to Intellectual Disability, Epilepsy, and Spastic Cerebral Palsy	11
TRPM8 Mutations Associated With Persistent Pain After Surgical Injury of Corneal Trigeminal Axons	11
Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy	11
Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo	10
A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation	10
Case of Neuronal Intranuclear Inclusion Disease With Dynamic Perfusion Changes Lacking Typical Signs on Diffusion-Weighted Imaging	10
Homozygous SOD1 Variation L144S Produces a Severe Form of Amyotrophic Lateral Sclerosis in an Iranian Family	10
Expanding Clinical Spectrum of C9ORF72 -Related Disorders and Promising Therapeutic Strategies	10
Novel Mutation of the TGF-β 3 Protein (Loeys-Dietz Type 5) Associated With Aortic and Carotid Dissections	10
A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia	10
Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss	9
Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia	9
Genetic Testing for Malformations of Cortical Development	9
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy	9
The Persistence of Duchenne vs Becker Muscular Dystrophies	9
RFC1 Repeat Distribution in the Cypriot Population	9
Adult-Onset Ataxia With Neuropathy and White Matter Abnormalities Due to a Novel SAMD9L Variant	9
Acid Ceramidase Deficiency	9
Dissecting the Shared Genetic Architecture of Common Epilepsies With Cortical Brain Morphology	9
PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1	9
Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2	9
Occurrence of Amyotrophic Lateral Sclerosis in Type 1 Gaucher Disease	8
Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype	8
The First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to Nonsynonymous POLR3B Mutations	8
A Phenotypic Atlas for Huntington Disease Based on Data From the Enroll-HD Cohort Study	8
Integrating Genetic Structural Variations and Whole-Genome Sequencing Into Clinical Neurology	8
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A	8
Novel SERAC1 Variant Presenting With Adult-Onset Extrapyramidal Dystonia-Parkinsonism Phenotype	8
Genetic and Functional Analysis of Glycosyltransferase 8 Domain–Containing Protein 1 in Taiwanese Patients With Amyotrophic Lateral Sclerosis	7
LAMA2 -Related Muscular Dystrophy Across the Life Span	7
Integrative Network-Based Analysis Reveals Gene Networks and Novel Drug Repositioning Candidates for Alzheimer Disease	7
Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA- FGF14 -Related Ataxia	7
Clinical Deep Phenotyping of ABCA7 Mutation Carriers	7
IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia	7
Parent-of-Origin Effect on the Age at Symptom Onset in Myotonic Dystrophy Type 2	7
DNA Methylation of the Natriuretic Peptide System Genes and Ischemic Stroke	7
Distinguishing Loss-of-Function and Gain-of-Function SCN8A Variants Using a Random Forest Classification Model Trained on Clinical Features	7
Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication	7
Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia	7

FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation	7
Novel Neuroimaging Pattern in POLR3A -Related Disorder on 7T MRI	7
SMN1 Duplications Are Associated With Progressive Muscular Atrophy, but Not With Multifocal Motor Neuropathy and Primary Lateral Sclerosis	6
SLC29A3 Pathogenic Variants Resulting in Dural Based Fibroinflammatory Mass Lesions and H Syndrome Treated With Cobimetinib	6
Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3	6
Novel TOP3A Variant Associated With Mitochondrial Disease	6
Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia	6
Confirming Pathogenicity of the F386L PSEN1 Variant in a South Asian Family With Early-Onset Alzheimer Disease	6
Increased Serum Levels of miR-125b and miR-132 in Fragile X Syndrome	6
Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1 -Related Disorder	6
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia	6
Expanding the Allelic Heterogeneity of ANO10 -Associated Autosomal Recessive Cerebellar Ataxia	6
TTN -Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant	6
High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete	6
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy	6