Neurology-Genetics

Article	Citations
The Second Decade of Neurology® Genetics Beckons	83
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans	57
International Survey on Genetic Literacy and Awareness in Patients With Spinal and Bulbar Muscular Atrophy	38
Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora Disease	34
Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts	32
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	32
Heterozygous HTRA1 Mutations Cause Cerebral Small Vessel Diseases	26
Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics	24
Clinical Clues to the Diagnostic Yield of Genetic Testing in Adults With Late-Onset Behavioral Change	22
Paroxysmal Ataxia	22
Complex 4q35 and 10q26 Rearrangements	22
Identifying Aging and Alzheimer Disease–Associated Somatic Variations in Excitatory Neurons From the Human Frontal Cortex	20
Proceedings of the 28th International Stroke Genetics Consortium Workshop	19
The Genetics of TDP-43 Type C Neurodegeneration	18
A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria	18
Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome	18
Progressive Apraxia of Speech as a Manifestation of Spinocerebellar Ataxia 2	18
Improvement of an External Predictive Model Based on New Information Using a Synthetic Data Approach	18
PRRT 2 -Related Epilepsy	17
Systemic Capillary Leak Syndrome With Cerebral Involvement in a C9orf72 Expansion Carrier	17
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia	17
Adaptive and Innate Immunity Are Key Drivers of Age at Onset of Multiple Sclerosis	16
The Spectrum of Genetic Risk in Alzheimer Disease	16
Quantitative Measurement of Glycosylated ⍺-Dystroglycan as a Biomarker for Disease Severity in Limb-Girdle Muscular Dystrophy Type 2I/R9	16
DEGS1 -Related Hypomyelinating Leukodystrophy	16

Preparing Amyotrophic Lateral Sclerosis Clinics to Provide Longitudinal Care for Individuals Carrying ALS Risk Variants	16
Immunotherapy Responsive Recurrent Post-Infectious Ataxia Associated With Recurrent ATP2B2 Gene Variant	16
Blood Biomarkers to Identify Renal Angiomyolipomas in People With Tuberous Sclerosis Complex	15
TARDBP Mutations in Facial-Onset Sensory and Motor Neuronopathy	15
Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1	15
SON -Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine	14
Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1	14
Cerebral Aneurysms and Recurrent TIAs in a 42-Year-Old Patient With DADA2 Mutation	14
“Chocolate Chip Sign” on Susceptibility-Weighted Imaging	14
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy	14
Frameshift and Copy Number Variants in SACS -Related Neuropathy	13
Augmenting Diagnostic Yield From Genomic Sequencing	13
Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy	13
Outcomes in Early-Treated Guanidinoacetate Methyltransferase Deficiency	13
Refining the Phenotypic and Genotypic Spectrum of WDR73 -Related Galloway-Mowat Syndrome	13
Message From the Editors to Our Reviewers	13
Utility of Targeted RNA Analysis in Neurogenetic Disorders	13
Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia	12
Genetic Testing for Malformations of Cortical Development	12
A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia	12
TRPM8 Mutations Associated With Persistent Pain After Surgical Injury of Corneal Trigeminal Axons	12
Dissecting the Shared Genetic Architecture of Common Epilepsies With Cortical Brain Morphology	12
A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation	12
Acid Ceramidase Deficiency	11
Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype	11
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A	11
The Persistence of Duchenne vs Becker Muscular Dystrophies	11
RFC1 Repeat Distribution in the Cypriot Population	11
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy	11
Expanding the Phenotype Spectrum of β-Mannosidosis	11
Long-Read Sequencing Unveils an Intronic ASPA Retrotransposon Variant Implicated in Canavan Disease	10
Integrating Genetic Structural Variations and Whole-Genome Sequencing Into Clinical Neurology	10
Novel SERAC1 Variant Presenting With Adult-Onset Extrapyramidal Dystonia-Parkinsonism Phenotype	10
A Phenotypic Atlas for Huntington Disease Based on Data From the Enroll-HD Cohort Study	10
Peripheral Neuropathy in p.Val142Ile (Val122Ile) Variant Hereditary Transthyretin-Mediated Amyloidosis	10
Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy	10
Neurogenetics and Neurology® Genetics	9
Long-Read HiFi Genome Sequencing Resolves Retrotransposon-Mediated Deletions in TANGO2 Deficiency Disorder	9
Loss of SARM1 Improves Phenotypes in a Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay	9
Unlocking Genetic Clues	9
LAMA2 -Related Muscular Dystrophy Across the Life Span	9
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes	9
Ataxia With Vitamin E Deficiency Syndrome and a Novel TTPA Variant	9
Parent-of-Origin Effect on the Age at Symptom Onset in Myotonic Dystrophy Type 2	9
Distinguishing Loss-of-Function and Gain-of-Function SCN8A Variants Using a Random Forest Classification Model Trained on Clinical Features	8
Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA- FGF14 -Related Ataxia	8
Plasma isomiRs as Candidate Biomarkers for Amyotrophic Lateral Sclerosis	8
IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia	8
Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1 -Related Disorder	8
Post-Traumatic Headache in Children and Genetic Risk of Migraine	8

Parkinson Disease SNCA Risk Variants Are Associated With Higher Asymmetric Putamen Dopaminergic Dysfunction	8
Novel Neuroimaging Pattern in POLR3A -Related Disorder on 7T MRI	7
Genetically Guided Pharmacotherapy for Structural Neurovascular Lesions	7
Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia	7
Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3	7
Investigating the Genetic Relationship Between Vitamin B12 Metabolism and Parkinson Disease	7
Complete Agenesis of Corpus Callosum in KCNQ2 -Related Neonatal Epileptic Encephalopathy	7
Parkinson Disease Pathogenic Variants	7
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy	7
Holistic Exome-Based Genetic Testing in Adults With Epilepsy	7
Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing	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
Expanding the Clinicoradiologic Phenotype of the CTSA -Associated Small Vessel Disease CARASAL	7
Novel TOP3A Variant Associated With Mitochondrial Disease	7
Pediatric Cohort of Charcot-Marie-Tooth Disease	7
Neuropathology-Independent Association Between APOE Genotype and Cognitive Decline Rate in the Normal Aging-Early Alzheimer Continuum	7
SLC29A3 Pathogenic Variants Resulting in Dural Based Fibroinflammatory Mass Lesions and H Syndrome Treated With Cobimetinib	7
KIF5C -Related Neurodevelopmental Disorder	6
High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete	6
TTN -Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant	6
Cerebellar Micro-RNA Profile in a Mouse Model of Spinocerebellar Ataxia Type 2	6
Proceedings of the 27th International Stroke Genetics Consortium Workshop	6
Adult Phenotype of SYNGAP1 -DEE	6
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants	6
Expanding the Spectrum of BCAP31 -Associated Diseases	6
Population Attributable Risk in Alzheimer and Parkinson Diseases	6
Genome Sequencing in the Parkinson Disease Clinic	6
Mild Malformation of Cortical Development With Oligodendroglial Hyperplasia and Epilepsy	6
Immune Cell Mitochondrial Phenotypes Are Largely Preserved in Mitochondrial Diseases and Do Not Reflect Disease Severity	6
NNZ-2591 in Children and Adolescents With Phelan-McDermid Syndrome	6
CSF1R -Related Disorder	6
Blood Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Candidate Biomarkers in CSF1R -Related Disorder	5
Women With Genetic Epilepsies	5
Novel AIFM1 Variant in 2 Siblings With Sensorineural Hearing Loss and Cerebellar Ataxia	5
Developing a National Network for Leukodystrophy Research and Care in Canada	5
C9orf72 Repeat Expansion Discordance in 6 Multigenerational Kindreds	5
Expanding the Clinical Spectrum of Arboleda-Tham Syndrome	5
Prevalence and Characteristics of Pathogenic Variants in Taiwanese Patients With Cerebral Small Vessel Disease	5
Defining Haplosufficiency in Autosomal Recessive Limb-Girdle Muscular Dystrophy Using Molecular Markers in Disease Carriers	5
Updated Genetic Analysis of Japanese Familial ALS Patients Carrying SOD1 Variants Revealed Phenotypic Differences for Common Variants	5
Case of Autosomal Dominant Alzheimer Disease With Negative Findings From PiB-PET Examination	5
Effect of the RNF213 p.R4810K Variant on the Progression of Intracranial Artery Stenosis	5
Motor Function in Limb-Girdle Muscular Dystrophy R1/2A	5
Identification of Intronic Variants in NDUFA3 as a Cause of Leigh Syndrome by Whole Genome Sequencing and RNA Sequencing	5
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy	5
Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy	5
Monogenic Mimics of Neuroinflammatory Phenotypes in Children and Young Adults	5
Genetic Risk for Alzheimer Disease and Plasma Tau Are Associated With Accelerated Parietal Cortex Thickness Change in Middle-Aged Adults	5
The Association Between APOE Genotype, Race, and Dementia	5
The Spastic Paraplegia–Centers of Excellence Research Network (SP-CERN)	5
Targeted Therapy of GRIA1 -Related Epilepsy and Intellectual Disability With Perampanel	5
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency	5
It Takes 2 (Repeats) to Lose TANGO2	5
Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of LMNB1 -Related Autosomal Dominant Leukodystrophy	5
Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology	5
More Than APOE : Genetic Predictors in Alzheimer Disease in APOE ε3 Carriers	5
CircPDS5B Reduction Improves Angiogenesis Following Ischemic Stroke by Regulating MicroRNA-223-3p/NOTCH2 Axis	4
Assessment and Treatment of Cutaneous Neurofibromas in Neurofibromatosis Type 1	4
Elicited Repetitive Daily Blindness Associated With Gain-of-Function SCN1A Variants and Responsiveness to Sodium Channel Blockers	4
Whole Genome Variable Number Tandem Repeat Analysis in Alzheimer Disease	4
Identification of Sex-Specific Genetic Variants Associated With Tau PET	4
Machine Learning Approach for the Prediction of Age-Specific Probability of SCA3 and DRPLA by Survival Curve Analysis	4
Biallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy	4
A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia	4
The KCNT1 -Related Epilepsy Study	4
A Case of Multiple Intracranial Major Artery Stenoses With Coexisting PCSK9 p.E32K and RNF213 p.R4810K Var	4
Diagnostic Accuracy of Clinical Manifestations in Identifying People With Tuberous Sclerosis Complex	4
Search for Additional Pathogenic Variants to Explain Variation in PMP22 -Related Neuropathies	4
Novel Biallelic Synonymous Exonic Variant in VPS13A Affecting mRNA Splicing	4
Association of Family History and Polygenic Risk Score With Longitudinal Prognosis in Parkinson Disease	4
Prognostic Significance of NOTCH3 Small Vessel Disease Staging for the NOTCH3 p.R544C Variant	4
Questioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral Sclerosis	4
New Mission, New Reviews, New Word Counts, Oh My!	4
Adult Phenotype of CHD2 -Associated Disorders	4
Association of DMD Gene Variant Classes With Motor Outcomes in a Drug Registration Clinical Trial Setting	4
Duchenne Muscular Dystrophy and Delandistrogene Moxeparvovec Gene Therapy in Children	4
Cerebellar Ataxia and Peripheral Neuropathy in a Family With PNPLA8 -Associated Disease	4
Consequences of the Novel ALS-Associated KIF5 A Variant c.2993-6C>A for Exon 27 Splicing and Axonal Transport of SFPQ	4
Neonatal Encephalopathy	4

ATP1A3 Disease Spectrum Includes Paroxysmal Weakness and Encephalopathy Not Triggered by Fever	4
Identification of Nuclear Genetic Loci Linked to Clinical Features of the m.3243A>G Mitochondrial DNA Variant	4
Dipping Into the Phenotypic Implications of Mosaic Variants	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
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
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency	3
Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility	3
Examining the Performance of Polygenic Risk Scores for Alzheimer Disease Within and Across Populations Using k -Fold Cross-Validation	3
DNAJC12 Disease	3
Compound Heterozygous COA7 Variants Presenting With Childhood-Onset Axonal Neuropathy in 2 Siblings	3
Expanding the Genetic Landscape of ATXN2 Variants	3
Correction to Preprint Server Information	3
Genome-wide Analysis of Motor Progression in Parkinson Disease	3
Reducing Body Myopathy in Female Patients With FHL1 Variants Showing Rapid and Severe Evolution Mimicking Inflammatory Myopathy	3
Association of the Recurrent ATP1 A1 Variant p.Gly549Arg With Intermediate CMT and Loss of Na,K-ATPase Function	3
Serum NOTCH3Extracellular Domain in Patients With CADASIL	3
Single Nucleotide SMN1 Variants in a Cohort of Individuals With Spinal Muscular Atrophy	3
Cell-Type Specificity of Mosaic Chromosome 1q Gain Resolved by snRNA-seq in a Case of Epilepsy With Hyaline Protoplasmic Astrocytopathy	3
mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development	3
Overview of the Clinical Approach to Individuals With Cerebellar Ataxia and Neuropathy	3
Primary Progressive Apraxia of Speech Caused by TDP-43	3
Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis	3
Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy	3
CWH43 Variants Are Associated With Disease Risk and Clinical Phenotypic Measures in Patients With Normal Pressure Hydrocephalus	3
Late-Onset Ataxia-Telangiectasia Presenting With Dystonia and Tremor	3
Genetic Insights Into Hypothalamic Hamartoma	3
Neurodevelopmental and Neurologic Manifestations of PTEN Hamartoma Tumor Syndrome	3
Expanding Clinical Spectrum of C9ORF72 -Related Disorders and Promising Therapeutic Strategies	3
Functional Characterization of a De Novo SCN2A Mixed Variant Linked to Early Infantile Developmental and Epileptic Encephalopathy	3
Pilot Study of Fingolimod Treatment in Neuronal Ceroid Lipofuscinosis Type 1	2
Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period	2
Parkinson Disease Genetics Extended to African and Hispanic Ancestries in the VA Million Veteran Program	2
Genetic Risk Factors for Intracerebral Hemorrhage in Populations of East Asian Ancestry	2
Genomic Diagnoses for Ectopic Intracerebral Calcifications	2
Agenesis of Pectoralis Major Muscle in Late-Onset GFPT1 -Related Congenital Myasthenic Syndrome	2
Valosin-Containing Protein Multisystem Proteinopathy and Myopathology	2
Startle Disease	2
Sex-Based Differences in Disease Burden and Phenotype in CADASIL	2
Pathogenic Variants in A TP1A3	2
High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease	2
Diagnostic Genetic Findings From Exome Sequencing in a Cohort of 1,109 Children With Epilepsy	2
Nav1.8 Variant I206M as a Latent Susceptibility Factor in Postaxotomy Ocular Pain	2
CGG/CCG Repeat Expansions in LOC642361/NUTM2B-AS1 in Thai Patients With Oculopharyngodistal Myopathy	2
Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network	2
Fetal Brain MRI Findings in Myotonic Dystrophy and Considerations for Prenatal Genetic Testing	2
Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy	2
Utility of 18F-FDG PET/CT in the Surveillance of Patients With Neurofibromatosis Type 1	2
Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3 -Related Syndrome	2
Blended Phenotype of NOTCH3 and RNF213 Variants With Accelerated Large and Small Artery Crosstalk	2
Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies	2
Clinical Heterogeneity and Candidate Biomarkers in POLG -Related Mitochondrial Disease	2
Clinical Trial Designs for Rare Disorders	2
New-Onset Refractory Status Epilepticus Due to a Novel MT-TF Variant	2
Genetic Architecture of Cerebral White Matter Hyperintensities in Diverse Hispanic/Latino Adults	2
Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q 10 Biosynthesis Disorders	2
Expanding the Molecular and Pathologic Spectrum of HSPB8 Myopathy and Distal Motor Neuropathy	2
Compound Heterozygous Variants of GOSR2 Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy	2
Refractory Epilepsy in Adult Patient With COQ8A Variant Improves With CoQ10 Supplementation	2
Message From the Editors to Our Reviewers	2
3-Methylglutaconic Aciduria Type I	2
Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in the RTTN Gene	2
Expanding the AFG3L2 Spectrum	2
Characterization of Sleep in Alternating Hemiplegia of Childhood	2
Novel VRK1 Variants and a Founder Effect in Axonal Polyneuropathy	2
Combating Genetic Heterogeneity for Polygenic Prediction of Susceptibility to Brain β-Amyloid Deposition	2
Redefining the Pathogenic CAG Repeat Units Threshold in CACNA1A for Spinocerebellar Ataxia Type 6	2
Macrostructural Brain Abnormalities in Spinal Muscular Atrophy	2
Disentangling the Causal Effects of Education and Participation Bias on Alzheimer Disease Using Mendelian Randomization	2
A Retrospective Cohort Study of the GLA c.937G > T, p.Asp313Tyr Variant With No Evidence of an Association With Fabry Disease	2
Novel SLC13A3 Variants and Cases of Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation and Literature Review	2
NNZ-2591 in Children and Adolescents With Phelan-McDermid Syndrome	2
Expanding the Clinical Spectrum of UBTF -Related Neurodevelopmental Disorder	2
Metabolic Malfunction Mars Muscle Mitochondria	2