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 2021-04-01 to 2025-04-01.)

Article	Citations
Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices	42
V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations	36
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans	34
Phenotypic Spectrum of DNM2 -Related Centronuclear Myopathy	33
Identifying Aging and Alzheimer Disease–Associated Somatic Variations in Excitatory Neurons From the Human Frontal Cortex	32
Alanyl-tRNA Synthetase 1 Gene Variants in Hereditary Neuropathy	30
DNA Methylation of the Natriuretic Peptide System Genes and Ischemic Stroke	28
Identification of Sex-Specific Genetic Variants Associated With Tau PET	27
Spinocerebellar Ataxia Type 2	26
Somatic Variants in SVIL in Cerebral Aneurysms	25
Involvement of the Superior Cerebellar Peduncles in GAA- FGF14 Ataxia	25
Novel Synonymous and Frameshift Variants in the TRIP12 Gene Identified in 2 Chinese Patients With Intellectual Disability	24
Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features	24
Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant	23
Blended Phenotype of NOTCH3 and RNF213 Variants With Accelerated Large and Small Artery Crosstalk	23
CircPDS5B Reduction Improves Angiogenesis Following Ischemic Stroke by Regulating MicroRNA-223-3p/NOTCH2 Axis	22
Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis	21
Blended Phenotype of Prader-Willi Syndrome and HSP- SPG11 Caused by Maternal Uniparental Isodisomy	20
Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia	19
Predominant Spastic Paraparesis Associated With the D178N Mutation in PRNP	19
Clinicoradiologic Criteria for the Diagnosis of Stroke-like Episodes in MELAS	18
Complex 4q35 and 10q26 Rearrangements	18
The Second Decade of Neurology® Genetics Beckons	17
Redefining the Pathogenic CAG Repeat Units Threshold in CACNA1A for Spinocerebellar Ataxia Type 6	17
LAMA2 -Related Muscular Dystrophy Across the Life Span	17

Paroxysmal Ataxia	16
Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics	16
TNNI1 Mutated in Autosomal Dominant Proximal Arthrogryposis	16
IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia	16
Frequency and Phenotype Associations of Rare Variants in 5 Monogenic Cerebral Small Vessel Disease Genes in 200,000 UK Biobank Participants	16
Association of HLA-DQA2 and HLA-B With Moyamoya Disease in the Chinese Han Population	15
Parent-of-Origin Effect on the Age at Symptom Onset in Myotonic Dystrophy Type 2	14
Erythromelalgia: A Child With V400M Mutation in the SCN9A Gene	13
Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing	13
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	13
Heterozygous HTRA1 Mutations Cause Cerebral Small Vessel Diseases	13
Novel Biallelic Synonymous Exonic Variant in VPS13A Affecting mRNA Splicing	12
Migraine, Stroke, and Cervical Arterial Dissection	12
ATP1A3 Disease Spectrum Includes Paroxysmal Weakness and Encephalopathy Not Triggered by Fever	12
African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants	12
A Novel Pattern of Dystonia in DYT- VPS16	11
Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy	11
Genomic Diagnoses for Ectopic Intracerebral Calcifications	11
Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA- FGF14 -Related Ataxia	11
Ataxia and Diplopia	10
Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts	10
A Case of Multiple Intracranial Major Artery Stenoses With Coexisting PCSK9 p.E32K and RNF213 p.R4810K Variants	10
Review of Phenotypic Heterogeneity of Neuronal Intranuclear Inclusion Disease and NOTCH2NLC -Related GGC Repeat Expansion Disorders	9
Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication	9
Global Presence and Penetrance of CSF1R -Related Disorder	9
Integrative Network-Based Analysis Reveals Gene Networks and Novel Drug Repositioning Candidates for Alzheimer Disease	9
Distinguishing Loss-of-Function and Gain-of-Function SCN8A Variants Using a Random Forest Classification Model Trained on Clinical Features	9
Migraine, Stroke, and Cervical Arterial Dissection	9
Impact of MEK Inhibitor Therapy on Neurocognitive Functioning in NF1	9
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy	9
Association of Family History and Polygenic Risk Score With Longitudinal Prognosis in Parkinson Disease	9
Role of Rho-Associated Kinase in the Pathophysiology of Cerebral Cavernous Malformations	9
Cerebellar Ataxia and Peripheral Neuropathy in a Family With PNPLA8 -Associated Disease	9
Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia	9
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation	8
Neurology ® Genetics Acknowledgment to Reviewers	8
FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual Disability	8
Familial Brain Calcifications With Leukoencephalopathy	8
LBSL	8
Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathies	8
Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3	8
Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene	8
Metabolic Malfunction Mars Muscle Mitochondria	8
Novel Neuroimaging Pattern in POLR3A -Related Disorder on 7T MRI	8
Tau Pathology Associated With Parkinsonism and Mutation of Mitochondrial DNA Helicase Gene TWNK	7
Interactive Effects of HLA and GM Alleles on the Development of Alzheimer Disease	7
A Window Into the Myofibrillar Myopathy Proteome	7
Polygenic Risk Scores Augment Stroke Subtyping	7
A New Case With Cortical Malformation Caused by Biallelic Variants in LAMC3	7
Systemic Capillary Leak Syndrome With Cerebral Involvement in a C9orf72 Expansion Carrier	7

Proceedings of the 28th International Stroke Genetics Consortium Workshop	7
Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2 -Associated Infantile Epilepsy	7
Review of the Genetic Spectrum of Hereditary Spastic Paraplegias in the Middle East and North Africa Regions	7
Association of DMD Gene Variant Classes With Motor Outcomes in a Drug Registration Clinical Trial Setting	7
Quantitative Muscle MRI to Monitor Disease Progression in Hypokalemic Periodic Paralysis	7
Acknowledgment to Reviewers	7
Pathogenic NOTCH3 Variants Are Frequent Among the Korean General Population	7
Revealing the Timeline of Structural MRI Changes in Premanifest to Manifest Huntington Disease	6
Refractory Epilepsy in Adult Patient With COQ8A Variant Improves With CoQ10 Supplementation	6
Expanding the Clinical Spectrum of UBTF -Related Neurodevelopmental Disorder	6
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia	6
A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria	6
Clinical Deep Phenotyping of ABCA7 Mutation Carriers	6
A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family	6
Novel Genetic Variant in HUWE1	6
Adult Phenotype of CHD2 -Associated Disorders	6
Clinical and Genetic Analysis of Patients With TK2 Deficiency	6
Progressive Apraxia of Speech as a Manifestation of Spinocerebellar Ataxia 2	6
Compound Heterozygous Variants of GOSR2 Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy	6
Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1 -Related Disorder	6
Adult Neuropsychiatric Manifestation of Hartnup Disease With a Novel SLCA6A19 Variant	6
Miglustat Therapy for SCARB2 -Associated Action Myoclonus–Renal Failure Syndrome	6