Neurology-Genetics

Article	Citations
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	49
Paroxysmal Ataxia	49
The Second Decade of Neurology® Genetics Beckons	40
Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts	38
Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics	33
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans	33
Identifying Aging and Alzheimer Disease–Associated Somatic Variations in Excitatory Neurons From the Human Frontal Cortex	31
Complex 4q35 and 10q26 Rearrangements	31
Migraine, Stroke, and Cervical Arterial Dissection	30
Heterozygous HTRA1 Mutations Cause Cerebral Small Vessel Diseases	26
Proceedings of the 28th International Stroke Genetics Consortium Workshop	25
Adaptive and Innate Immunity Are Key Drivers of Age at Onset of Multiple Sclerosis	25
A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria	24
Improvement of an External Predictive Model Based on New Information Using a Synthetic Data Approach	24
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia	20
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
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	18
Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome	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
TARDBP Mutations in Facial-Onset Sensory and Motor Neuronopathy	15
Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene	15
SON -Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine	14

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
Immunotherapy Responsive Recurrent Post-Infectious Ataxia Associated With Recurrent ATP2B2 Gene Variant	14
The Spectrum of Genetic Risk in Alzheimer Disease	13
Refining the Phenotypic and Genotypic Spectrum of WDR73 -Related Galloway-Mowat Syndrome	13
“Chocolate Chip Sign” on Susceptibility-Weighted Imaging	13
Message From the Editors to Our Reviewers	12
Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1	12
Outcomes in Early-Treated Guanidinoacetate Methyltransferase Deficiency	12
Blood Biomarkers to Identify Renal Angiomyolipomas in People With Tuberous Sclerosis Complex	12
Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy	12
Homozygous SOD1 Variation L144S Produces a Severe Form of Amyotrophic Lateral Sclerosis in an Iranian Family	11
Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo	11
Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss	11
TRPM8 Mutations Associated With Persistent Pain After Surgical Injury of Corneal Trigeminal Axons	11
Diagnosis of Shashi-Pena Syndrome Caused by Chromosomal Rearrangement Using Nanopore Sequencing	11
The Persistence of Duchenne vs Becker Muscular Dystrophies	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	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
Adult-Onset Ataxia With Neuropathy and White Matter Abnormalities Due to a Novel SAMD9L Variant	10
RFC1 Repeat Distribution in the Cypriot Population	10
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
Acid Ceramidase Deficiency	10
Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia	10
Genetic Testing for Malformations of Cortical Development	10
Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2	9
Integrating Genetic Structural Variations and Whole-Genome Sequencing Into Clinical Neurology	9
Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype	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
Peripheral Neuropathy in p.Val142Ile (Val122Ile) Variant Hereditary Transthyretin-Mediated Amyloidosis	9
Novel Mutation of the TGF-β 3 Protein (Loeys-Dietz Type 5) Associated With Aortic and Carotid Dissections	9
Genetic and Functional Analysis of Glycosyltransferase 8 Domain–Containing Protein 1 in Taiwanese Patients With Amyotrophic Lateral Sclerosis	9
A Phenotypic Atlas for Huntington Disease Based on Data From the Enroll-HD Cohort Study	9
The First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to Nonsynonymous POLR3B Mutations	9
Distinguishing Loss-of-Function and Gain-of-Function SCN8A Variants Using a Random Forest Classification Model Trained on Clinical Features	8
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy	8
Novel Neuroimaging Pattern in POLR3A -Related Disorder on 7T MRI	8
Unlocking Genetic Clues	8
Parent-of-Origin Effect on the Age at Symptom Onset in Myotonic Dystrophy Type 2	8
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia	8
Expanding the Allelic Heterogeneity of ANO10 -Associated Autosomal Recessive Cerebellar Ataxia	8
IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia	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
LAMA2 -Related Muscular Dystrophy Across the Life Span	8
Holistic Exome-Based Genetic Testing in Adults With Epilepsy	8

Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1 -Related Disorder	8
Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA- FGF14 -Related Ataxia	8
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation	8
Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia	7
Novel TOP3A Variant Associated With Mitochondrial Disease	7
Clinical Deep Phenotyping of ABCA7 Mutation Carriers	7
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants	7
Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3	7
Adult Phenotype of SYNGAP1 -DEE	7
CSF1R -Related Disorder	6
Complete Agenesis of Corpus Callosum in KCNQ2 -Related Neonatal Epileptic Encephalopathy	6
Increased Serum Levels of miR-125b and miR-132 in Fragile X Syndrome	6
Migraine, Stroke, and Cervical Arterial Dissection	6
Proceedings of the 27th International Stroke Genetics Consortium Workshop	6
High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete	6
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy	6
Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing	6
Phenotype of Patients With Charcot-Marie-Tooth With the p.His123Arg Mutation in GDAP1 in Northern Finland	6
Mild Malformation of Cortical Development With Oligodendroglial Hyperplasia and Epilepsy	6
Body Mass Index and Height in Friedreich Ataxia	6
SLC29A3 Pathogenic Variants Resulting in Dural Based Fibroinflammatory Mass Lesions and H Syndrome Treated With Cobimetinib	6
TTN -Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant	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
Women With Genetic Epilepsies	6
Neuropathology-Independent Association Between APOE Genotype and Cognitive Decline Rate in the Normal Aging-Early Alzheimer Continuum	6
Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy	5
Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of LMNB1 -Related Autosomal Dominant Leukodystrophy	5
Novel AIFM1 Variant in 2 Siblings With Sensorineural Hearing Loss and Cerebellar Ataxia	5
Updated Genetic Analysis of Japanese Familial ALS Patients Carrying SOD1 Variants Revealed Phenotypic Differences for Common Variants	5
Effect of the RNF213 p.R4810K Variant on the Progression of Intracranial Artery Stenosis	5
Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology	5
Targeted Therapy of GRIA1 -Related Epilepsy and Intellectual Disability With Perampanel	5
C9orf72 Repeat Expansion Discordance in 6 Multigenerational Kindreds	5
Whole Genome Variable Number Tandem Repeat Analysis in Alzheimer Disease	5
Cerebellar Micro-RNA Profile in a Mouse Model of Spinocerebellar Ataxia Type 2	5
The Spastic Paraplegia–Centers of Excellence Research Network (SP-CERN)	5
More Than APOE : Genetic Predictors in Alzheimer Disease in APOE ε3 Carriers	5
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency	5
Cross-sectional Observations on the Natural History of Mucolipidosis Type IV	5
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy	5
Genetic Risk for Alzheimer Disease and Plasma Tau Are Associated With Accelerated Parietal Cortex Thickness Change in Middle-Aged Adults	5
Prevalence and Characteristics of Pathogenic Variants in Taiwanese Patients With Cerebral Small Vessel Disease	5
Case of Autosomal Dominant Alzheimer Disease With Negative Findings From PiB-PET Examination	5
Genome Sequencing in the Parkinson Disease Clinic	5
A 3.9-Mb Deletion on 2p11.2 Comprising the REEP1 Gene Causes Early-Onset Atypical Parkinsonism	5
Not Just Loss-of-Function Variations	5
Association of Family History and Polygenic Risk Score With Longitudinal Prognosis in Parkinson Disease	4
Examining the Performance of Polygenic Risk Scores for Alzheimer Disease Within and Across Populations Using k -Fold Cross-Validation	4
Dipping Into the Phenotypic Implications of Mosaic Variants	4
Biallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy	4
New Mission, New Reviews, New Word Counts, Oh My!	4
Adult Cerebellar Ataxia, Axonal Neuropathy, and Sensory Impairments Caused by Biallelic SCO2 Variants	4
Association of DMD Gene Variant Classes With Motor Outcomes in a Drug Registration Clinical Trial Setting	4
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy	4
Novel Biallelic Synonymous Exonic Variant in VPS13A Affecting mRNA Splicing	4
Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2 -Associated Infantile Epilepsy	4
Familial Brain Calcifications With Leukoencephalopathy	4
Genetic and Phenotypic Variability in Siblings With Friedreich Ataxia	4
Genome-wide Analysis of Motor Progression in Parkinson Disease	4
Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant	4
A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia	4
Questioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral Sclerosis	4
Adult Phenotype of CHD2 -Associated Disorders	4
Cerebellar Ataxia and Peripheral Neuropathy in a Family With PNPLA8 -Associated Disease	4
ATP1A3 Disease Spectrum Includes Paroxysmal Weakness and Encephalopathy Not Triggered by Fever	4
A Case of Multiple Intracranial Major Artery Stenoses With Coexisting PCSK9 p.E32K and RNF213 p.R4810K Variants	4
Neonatal Encephalopathy	4
Body Mass Index and Height in the Friedreich Ataxia Clinical Outcome Measures Study	4
Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis	4
Single Nucleotide SMN1 Variants in a Cohort of Individuals With Spinal Muscular Atrophy	4
Genetic Predisposition to Mosaic Chromosomal Loss Is Associated With Functional Outcome After Ischemic Stroke	4
Genetic Insights Into Hypothalamic Hamartoma	4
Machine Learning Approach for the Prediction of Age-Specific Probability of SCA3 and DRPLA by Survival Curve Analysis	4
CircPDS5B Reduction Improves Angiogenesis Following Ischemic Stroke by Regulating MicroRNA-223-3p/NOTCH2 Axis	4
Diagnostic Accuracy of Clinical Manifestations in Identifying People With Tuberous Sclerosis Complex	4
Identification of Sex-Specific Genetic Variants Associated With Tau PET	4
Perisylvian and Hippocampal Anomalies in Individuals With Pathogenic GRIN2A Variants	3
Primary Progressive Apraxia of Speech Caused by TDP-43	3
Late-Onset Ataxia-Telangiectasia Presenting With Dystonia and Tremor	3

Association of the Recurrent ATP1 A1 Variant p.Gly549Arg With Intermediate CMT and Loss of Na,K-ATPase Function	3
Fetal Brain MRI Findings in Myotonic Dystrophy and Considerations for Prenatal Genetic Testing	3
Cell-Type Specificity of Mosaic Chromosome 1q Gain Resolved by snRNA-seq in a Case of Epilepsy With Hyaline Protoplasmic Astrocytopathy	3
Novel SLC13A3 Variants and Cases of Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation and Literature Review	3
A Retrospective Cohort Study of the GLA c.937G > T, p.Asp313Tyr Variant With No Evidence of an Association With Fabry Disease	3
Macrostructural Brain Abnormalities in Spinal Muscular Atrophy	3
Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort	3
Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility	3
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency	3
mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development	3
Agenesis of Pectoralis Major Muscle in Late-Onset GFPT1 -Related Congenital Myasthenic Syndrome	3
Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia	3
New-Onset Refractory Status Epilepticus Due to a Novel MT-TF Variant	3
Progressive Myoclonus Epilepsies	3
Startle Disease	3
Expanding Clinical Spectrum of C9ORF72 -Related Disorders and Promising Therapeutic Strategies	3
Overview of the Clinical Approach to Individuals With Cerebellar Ataxia and Neuropathy	3
Neurodevelopmental and Neurologic Manifestations of PTEN Hamartoma Tumor Syndrome	3
Combating Genetic Heterogeneity for Polygenic Prediction of Susceptibility to Brain β-Amyloid Deposition	3
Correction to Preprint Server Information	3
3-Methylglutaconic Aciduria Type I	3
CWH43 Variants Are Associated With Disease Risk and Clinical Phenotypic Measures in Patients With Normal Pressure Hydrocephalus	3
Genetic Architecture of Cerebral White Matter Hyperintensities in Diverse Hispanic/Latino Adults	3
Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies	3
High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease	3
Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy	3