Neurology-Genetics

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
The Second Decade of Neurology® Genetics Beckons	32
Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts	32
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans	31
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
Adaptive and Innate Immunity Are Key Drivers of Age at Onset of Multiple Sclerosis	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
Tau Pathology Associated With Parkinsonism and Mutation of Mitochondrial DNA Helicase Gene TWNK	24
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	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
TARDBP Mutations in Facial-Onset Sensory and Motor Neuronopathy	16
Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1	16
CSF MicroRNAs Reveal Impairment of Angiogenesis and Autophagy in Parkinson Disease	16

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
Cerebral Aneurysms and Recurrent TIAs in a 42-Year-Old Patient With DADA2 Mutation	15
Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1	14
Immunotherapy Responsive Recurrent Post-Infectious Ataxia Associated With Recurrent ATP2B2 Gene Variant	14
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
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
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
Message From the Editors to Our Reviewers	12
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
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
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
RFC1 Repeat Distribution in the Cypriot Population	10
Adult-Onset Ataxia With Neuropathy and White Matter Abnormalities Due to a Novel SAMD9L Variant	10
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
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
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

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
Increased Serum Levels of miR-125b and miR-132 in Fragile X Syndrome	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
Expanding the Allelic Heterogeneity of ANO10 -Associated Autosomal Recessive Cerebellar Ataxia	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
Clinical Deep Phenotyping of ABCA7 Mutation Carriers	7
Novel Neuroimaging Pattern in POLR3A -Related Disorder on 7T MRI	7
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
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
Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology	5
Updated Genetic Analysis of Japanese Familial ALS Patients Carrying SOD1 Variants Revealed Phenotypic Differences for Common Variants	5
Migraine, Stroke, and Cervical Arterial Dissection	5
Cerebellar Micro-RNA Profile in a Mouse Model of Spinocerebellar Ataxia Type 2	5
Genetic Risk for Alzheimer Disease and Plasma Tau Are Associated With Accelerated Parietal Cortex Thickness Change in Middle-Aged Adults	5
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency	5
C9orf72 Repeat Expansion Discordance in 6 Multigenerational Kindreds	5
Women With Genetic Epilepsies	5
Novel AIFM1 Variant in 2 Siblings With Sensorineural Hearing Loss and Cerebellar Ataxia	5
Genome Sequencing in the Parkinson Disease Clinic	5
Prevalence and Characteristics of Pathogenic Variants in Taiwanese Patients With Cerebral Small Vessel Disease	5
Not Just Loss-of-Function Variations	5
Targeted Therapy of GRIA1 -Related Epilepsy and Intellectual Disability With Perampanel	5
Body Mass Index and Height in the Friedreich Ataxia Clinical Outcome Measures Study	5
Case of Autosomal Dominant Alzheimer Disease With Negative Findings From PiB-PET Examination	5
Body Mass Index and Height in Friedreich Ataxia	5
More Than APOE : Genetic Predictors in Alzheimer Disease in APOE ε3 Carriers	5
Dysfunctional Homozygous VRK1-D263G Variant Impairs the Assembly of Cajal Bodies and DNA Damage Response in Hereditary Spastic Paraplegia	5
Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy	5
Cross-sectional Observations on the Natural History of Mucolipidosis Type IV	5
A 3.9-Mb Deletion on 2p11.2 Comprising the REEP1 Gene Causes Early-Onset Atypical Parkinsonism	5
Novel Biallelic Synonymous Exonic Variant in VPS13A Affecting mRNA Splicing	4
Cerebellar Ataxia and Peripheral Neuropathy in a Family With PNPLA8 -Associated Disease	4
Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of LMNB1 -Related Autosomal Dominant Leukodystrophy	4
Identification of Sex-Specific Genetic Variants Associated With Tau PET	4
ATP1A3 Disease Spectrum Includes Paroxysmal Weakness and Encephalopathy Not Triggered by Fever	4
Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2 -Associated Infantile Epilepsy	4
A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia	4
Adult Cerebellar Ataxia, Axonal Neuropathy, and Sensory Impairments Caused by Biallelic SCO2 Variants	4
Adult Phenotype of CHD2 -Associated Disorders	4
Familial Brain Calcifications With Leukoencephalopathy	4
Diagnostic Accuracy of Clinical Manifestations in Identifying People With Tuberous Sclerosis Complex	4
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy	4
A Case of Multiple Intracranial Major Artery Stenoses With Coexisting PCSK9 p.E32K and RNF213 p.R4810K Variants	4
Neonatal Encephalopathy	4
Miglustat Therapy for SCARB2 -Associated Action Myoclonus–Renal Failure Syndrome	4
Revealing the Timeline of Structural MRI Changes in Premanifest to Manifest Huntington Disease	4
Genetic Insights Into Hypothalamic Hamartoma	4
Genetic Predisposition to Mosaic Chromosomal Loss Is Associated With Functional Outcome After Ischemic Stroke	4
Machine Learning Approach for the Prediction of Age-Specific Probability of SCA3 and DRPLA by Survival Curve Analysis	4
Examining the Performance of Polygenic Risk Scores for Alzheimer Disease Within and Across Populations Using k -Fold Cross-Validation	4
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy	4
Association of DMD Gene Variant Classes With Motor Outcomes in a Drug Registration Clinical Trial Setting	4
CircPDS5B Reduction Improves Angiogenesis Following Ischemic Stroke by Regulating MicroRNA-223-3p/NOTCH2 Axis	4
Association of Family History and Polygenic Risk Score With Longitudinal Prognosis in Parkinson Disease	4
Whole Genome Variable Number Tandem Repeat Analysis in Alzheimer Disease	4
Genetic and Phenotypic Variability in Siblings With Friedreich Ataxia	4
New Mission, New Reviews, New Word Counts, Oh My!	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
Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort	4

Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility	3
Macrostructural Brain Abnormalities in Spinal Muscular Atrophy	3
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency	3
Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy	3
Genome-wide Analysis of Motor Progression in Parkinson Disease	3
Fetal Brain MRI Findings in Myotonic Dystrophy and Considerations for Prenatal Genetic Testing	3
Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia	3
Late-Onset Ataxia-Telangiectasia Presenting With Dystonia and Tremor	3
High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease	3
Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort	3
Overview of the Clinical Approach to Individuals With Cerebellar Ataxia and Neuropathy	3
Single Nucleotide SMN1 Variants in a Cohort of Individuals With Spinal Muscular Atrophy	3
Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis	3
Questioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral Sclerosis	3
Correction to Preprint Server Information	3
Cell-Type Specificity of Mosaic Chromosome 1q Gain Resolved by snRNA-seq in a Case of Epilepsy With Hyaline Protoplasmic Astrocytopathy	3
Association of the Recurrent ATP1 A1 Variant p.Gly549Arg With Intermediate CMT and Loss of Na,K-ATPase Function	3
Startle Disease	3
CWH43 Variants Are Associated With Disease Risk and Clinical Phenotypic Measures in Patients With Normal Pressure Hydrocephalus	3
Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies	3
Perisylvian and Hippocampal Anomalies in Individuals With Pathogenic GRIN2A Variants	3
Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant	3
Primary Progressive Apraxia of Speech Caused by TDP-43	3
Expanding Clinical Spectrum of C9ORF72 -Related Disorders and Promising Therapeutic Strategies	3
Progressive Myoclonus Epilepsies	3
mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development	3
A Retrospective Cohort Study of the GLA c.937G > T, p.Asp313Tyr Variant With No Evidence of an Association With Fabry Disease	3
Valosin-Containing Protein Multisystem Proteinopathy and Myopathology	2
Genomic Diagnoses for Ectopic Intracerebral Calcifications	2
New-Onset Refractory Status Epilepticus Due to a Novel MT-TF Variant	2
Parkinson Disease Genetics Extended to African and Hispanic Ancestries in the VA Million Veteran Program	2
Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3 -Related Syndrome	2
Vanishing White Matter Disease Presenting as Dementia and Infertility	2
Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in the RTTN Gene	2
Spectrum of Phenotypes in SMA Patients With 4 SMN2 Copies in the French Population	2
CGG/CCG Repeat Expansions in LOC642361/NUTM2B-AS1 in Thai Patients With Oculopharyngodistal Myopathy	2
Novel Genetic Variant in HUWE1	2
Blended Phenotype of NOTCH3 and RNF213 Variants With Accelerated Large and Small Artery Crosstalk	2
Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q 10 Biosynthesis Disorders	2
Combating Genetic Heterogeneity for Polygenic Prediction of Susceptibility to Brain β-Amyloid Deposition	2
Novel SLC13A3 Variants and Cases of Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation and Literature Review	2
Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy	2
Review of the Genetic Spectrum of Hereditary Spastic Paraplegias in the Middle East and North Africa Regions	2
Compound Heterozygous Variants of GOSR2 Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy	2
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene	2
Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network	2
Migraine, Stroke, and Cervical Arterial Dissection	2
Agenesis of Pectoralis Major Muscle in Late-Onset GFPT1 -Related Congenital Myasthenic Syndrome	2
Pathogenic DNM1 Gene Variant Presenting With Unusually Nonsevere Neurodevelopmental Phenotype: A Case Report	2
Redefining the Pathogenic CAG Repeat Units Threshold in CACNA1A for Spinocerebellar Ataxia Type 6	2
3-Methylglutaconic Aciduria Type I	2
Adult Neuropsychiatric Manifestation of Hartnup Disease With a Novel SLCA6A19 Variant	2
Refractory Epilepsy in Adult Patient With COQ8A Variant Improves With CoQ10 Supplementation	2
Metabolic Malfunction Mars Muscle Mitochondria	2
A Fast and Robust Strategy to Remove Variant-Level Artifacts in Alzheimer Disease Sequencing Project Data	2