Neurology-Genetics

Article	Citations
Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics	74
Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora Disease	50
The Second Decade of Neurology® Genetics Beckons	41
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans	39
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	33
Paroxysmal Ataxia	32
Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts	29
Complex 4q35 and 10q26 Rearrangements	27
Heterozygous HTRA1 Mutations Cause Cerebral Small Vessel Diseases	27
International Survey on Genetic Literacy and Awareness in Patients With Spinal and Bulbar Muscular Atrophy	22
Identifying Aging and Alzheimer Disease–Associated Somatic Variations in Excitatory Neurons From the Human Frontal Cortex	21
Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome	20
Proceedings of the 28th International Stroke Genetics Consortium Workshop	20
Quantitative Measurement of Glycosylated ⍺-Dystroglycan as a Biomarker for Disease Severity in Limb-Girdle Muscular Dystrophy Type 2I/R9	19
Adaptive and Innate Immunity Are Key Drivers of Age at Onset of Multiple Sclerosis	18
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia	17
PRRT 2 -Related Epilepsy	17
Progressive Apraxia of Speech as a Manifestation of Spinocerebellar Ataxia 2	17
A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria	17
Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene	16
Improvement of an External Predictive Model Based on New Information Using a Synthetic Data Approach	16
Systemic Capillary Leak Syndrome With Cerebral Involvement in a C9orf72 Expansion Carrier	16
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	15
The Genetics of TDP-43 Type C Neurodegeneration	15
Cerebral Aneurysms and Recurrent TIAs in a 42-Year-Old Patient With DADA2 Mutation	14

Immunotherapy Responsive Recurrent Post-Infectious Ataxia Associated With Recurrent ATP2B2 Gene Variant	14
SON -Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine	14
TARDBP Mutations in Facial-Onset Sensory and Motor Neuronopathy	14
Refining the Phenotypic and Genotypic Spectrum of WDR73 -Related Galloway-Mowat Syndrome	14
Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1	13
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy	13
DEGS1 -Related Hypomyelinating Leukodystrophy	13
Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1	13
Blood Biomarkers to Identify Renal Angiomyolipomas in People With Tuberous Sclerosis Complex	13
Message From the Editors to Our Reviewers	12
Utility of Targeted RNA Analysis in Neurogenetic Disorders	12
“Chocolate Chip Sign” on Susceptibility-Weighted Imaging	12
Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo	12
Augmenting Diagnostic Yield From Genomic Sequencing	12
Frameshift and Copy Number Variants in SACS -Related Neuropathy	12
The Spectrum of Genetic Risk in Alzheimer Disease	12
Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy	12
A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation	11
Expanding Clinical Spectrum of C9ORF72 -Related Disorders and Promising Therapeutic Strategies	11
A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia	11
Outcomes in Early-Treated Guanidinoacetate Methyltransferase Deficiency	11
Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss	11
RFC1 Repeat Distribution in the Cypriot Population	11
TRPM8 Mutations Associated With Persistent Pain After Surgical Injury of Corneal Trigeminal Axons	11
Acid Ceramidase Deficiency	11
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A	10
Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia	10
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy	10
The Persistence of Duchenne vs Becker Muscular Dystrophies	10
Dissecting the Shared Genetic Architecture of Common Epilepsies With Cortical Brain Morphology	10
Genetic Testing for Malformations of Cortical Development	10
Expanding the Phenotype Spectrum of β-Mannosidosis	10
Long-Read Sequencing Unveils an Intronic ASPA Retrotransposon Variant Implicated in Canavan Disease	9
A Phenotypic Atlas for Huntington Disease Based on Data From the Enroll-HD Cohort Study	9
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes	9
Novel SERAC1 Variant Presenting With Adult-Onset Extrapyramidal Dystonia-Parkinsonism Phenotype	9
Peripheral Neuropathy in p.Val142Ile (Val122Ile) Variant Hereditary Transthyretin-Mediated Amyloidosis	9
Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy	9
Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype	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
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
Parent-of-Origin Effect on the Age at Symptom Onset in Myotonic Dystrophy Type 2	8
Neurogenetics and Neurology® Genetics	8
DNA Methylation of the Natriuretic Peptide System Genes and Ischemic Stroke	8
Plasma isomiRs as Candidate Biomarkers for Amyotrophic Lateral Sclerosis	8
IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia	8
Unlocking Genetic Clues	8
LAMA2 -Related Muscular Dystrophy Across the Life Span	8

Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA- FGF14 -Related Ataxia	8
Novel Neuroimaging Pattern in POLR3A -Related Disorder on 7T MRI	7
Distinguishing Loss-of-Function and Gain-of-Function SCN8A Variants Using a Random Forest Classification Model Trained on Clinical Features	7
Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia	7
Pediatric Cohort of Charcot-Marie-Tooth Disease	7
Increased Serum Levels of miR-125b and miR-132 in Fragile X Syndrome	7
Holistic Exome-Based Genetic Testing in Adults With Epilepsy	7
Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1 -Related Disorder	7
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia	7
Expanding the Clinicoradiologic Phenotype of the CTSA -Associated Small Vessel Disease CARASAL	7
Investigating the Genetic Relationship Between Vitamin B12 Metabolism and Parkinson Disease	7
Expanding the Allelic Heterogeneity of ANO10 -Associated Autosomal Recessive Cerebellar Ataxia	7
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy	7
Novel TOP3A Variant Associated With Mitochondrial Disease	7
Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3	7
Complete Agenesis of Corpus Callosum in KCNQ2 -Related Neonatal Epileptic Encephalopathy	7
Immune Cell Mitochondrial Phenotypes Are Largely Preserved in Mitochondrial Diseases and Do Not Reflect Disease Severity	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
Genome Sequencing in the Parkinson Disease Clinic	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
Adult Phenotype of SYNGAP1 -DEE	6
Proceedings of the 27th International Stroke Genetics Consortium Workshop	6
Women With Genetic Epilepsies	6
SLC29A3 Pathogenic Variants Resulting in Dural Based Fibroinflammatory Mass Lesions and H Syndrome Treated With Cobimetinib	6
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants	6
TTN -Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant	6
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy	6
CSF1R -Related Disorder	6
Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy	5
Identification of Intronic Variants in NDUFA3 as a Cause of Leigh Syndrome by Whole Genome Sequencing and RNA Sequencing	5
C9orf72 Repeat Expansion Discordance in 6 Multigenerational Kindreds	5
Motor Function in Limb-Girdle Muscular Dystrophy R1/2A	5
Novel AIFM1 Variant in 2 Siblings With Sensorineural Hearing Loss and Cerebellar Ataxia	5
Cerebellar Micro-RNA Profile in a Mouse Model of Spinocerebellar Ataxia Type 2	5
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency	5
Developing a National Network for Leukodystrophy Research and Care in Canada	5
Monogenic Mimics of Neuroinflammatory Phenotypes in Children and Young Adults	5
Neonatal Encephalopathy	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
More Than APOE : Genetic Predictors in Alzheimer Disease in APOE ε3 Carriers	5
Targeted Therapy of GRIA1 -Related Epilepsy and Intellectual Disability With Perampanel	5
Prevalence and Characteristics of Pathogenic Variants in Taiwanese Patients With Cerebral Small Vessel Disease	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
The Spastic Paraplegia–Centers of Excellence Research Network (SP-CERN)	5
Effect of the RNF213 p.R4810K Variant on the Progression of Intracranial Artery Stenosis	5
Genetic Risk for Alzheimer Disease and Plasma Tau Are Associated With Accelerated Parietal Cortex Thickness Change in Middle-Aged Adults	5
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 Var	4
Association of DMD Gene Variant Classes With Motor Outcomes in a Drug Registration Clinical Trial Setting	4
Examining the Performance of Polygenic Risk Scores for Alzheimer Disease Within and Across Populations Using k -Fold Cross-Validation	4
A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia	4
Genetic Insights Into Hypothalamic Hamartoma	4
Biallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy	4
Genetic and Phenotypic Variability in Siblings With Friedreich Ataxia	4
Cerebellar Ataxia and Peripheral Neuropathy in a Family With PNPLA8 -Associated Disease	4
Association of Family History and Polygenic Risk Score With Longitudinal Prognosis in Parkinson Disease	4
Identification of Sex-Specific Genetic Variants Associated With Tau PET	4
Whole Genome Variable Number Tandem Repeat Analysis in Alzheimer Disease	4
CircPDS5B Reduction Improves Angiogenesis Following Ischemic Stroke by Regulating MicroRNA-223-3p/NOTCH2 Axis	4
Machine Learning Approach for the Prediction of Age-Specific Probability of SCA3 and DRPLA by Survival Curve Analysis	4
Genome-wide Analysis of Motor Progression in Parkinson Disease	4
Single Nucleotide SMN1 Variants in a Cohort of Individuals With Spinal Muscular Atrophy	4
New Mission, New Reviews, New Word Counts, Oh My!	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
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy	4
Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2 -Associated Infantile Epilepsy	4
Adult Phenotype of CHD2 -Associated Disorders	4
Questioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral Sclerosis	4
Dipping Into the Phenotypic Implications of Mosaic Variants	4
Familial Brain Calcifications With Leukoencephalopathy	4
Assessment and Treatment of Cutaneous Neurofibromas in Neurofibromatosis Type 1	4
Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility	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

Correction to Preprint Server Information	3
Expanding Clinical Spectrum of C9ORF72 -Related Disorders and Promising Therapeutic Strategies	3
Association of the Recurrent ATP1 A1 Variant p.Gly549Arg With Intermediate CMT and Loss of Na,K-ATPase Function	3
Disentangling the Causal Effects of Education and Participation Bias on Alzheimer Disease Using Mendelian Randomization	3
Pilot Study of Fingolimod Treatment in Neuronal Ceroid Lipofuscinosis Type 1	3
Startle Disease	3
High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease	3
Perisylvian and Hippocampal Anomalies in Individuals With Pathogenic GRIN2A Variants	3
Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis	3
Serum NOTCH3Extracellular Domain in Patients With CADASIL	3
Cell-Type Specificity of Mosaic Chromosome 1q Gain Resolved by snRNA-seq in a Case of Epilepsy With Hyaline Protoplasmic Astrocytopathy	3
DNAJC12 Disease	3
Primary Progressive Apraxia of Speech Caused by TDP-43	3
Expanding the Molecular and Pathologic Spectrum of HSPB8 Myopathy and Distal Motor Neuropathy	3
Fetal Brain MRI Findings in Myotonic Dystrophy and Considerations for Prenatal Genetic Testing	3
A Retrospective Cohort Study of the GLA c.937G > T, p.Asp313Tyr Variant With No Evidence of an Association With Fabry Disease	3
mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development	3
Expanding the Genetic Landscape of ATXN2 Variants	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
Functional Characterization of a De Novo SCN2A Mixed Variant Linked to Early Infantile Developmental and Epileptic Encephalopathy	3
Overview of the Clinical Approach to Individuals With Cerebellar Ataxia and Neuropathy	3
Neurodevelopmental and Neurologic Manifestations of PTEN Hamartoma Tumor Syndrome	3
Macrostructural Brain Abnormalities in Spinal Muscular Atrophy	3
Pathogenic Variants in A TP1A3	3
Novel SLC13A3 Variants and Cases of Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation and Literature Review	3
Genetic Architecture of Cerebral White Matter Hyperintensities in Diverse Hispanic/Latino Adults	3
Autosomal Dominant FTH1 Variant Causing Pontocerebellar Hypoplasia and Late-Onset Neuroferritinopathy	2
Vanishing White Matter Disease Presenting as Dementia and Infertility	2
Metabolic Malfunction Mars Muscle Mitochondria	2
Redefining the Pathogenic CAG Repeat Units Threshold in CACNA1A for Spinocerebellar Ataxia Type 6	2
Combating Genetic Heterogeneity for Polygenic Prediction of Susceptibility to Brain β-Amyloid Deposition	2
Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3 -Related Syndrome	2
Clinical Trial Designs for Rare Disorders	2
Sex-Based Differences in Disease Burden and Phenotype in CADASIL	2
Migraine, Stroke, and Cervical Arterial Dissection	2
Parkinson Disease Genetics Extended to African and Hispanic Ancestries in the VA Million Veteran Program	2
Adult Neuropsychiatric Manifestation of Hartnup Disease With a Novel SLCA6A19 Variant	2
Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in the RTTN Gene	2
Valosin-Containing Protein Multisystem Proteinopathy and Myopathology	2
A Fast and Robust Strategy to Remove Variant-Level Artifacts in Alzheimer Disease Sequencing Project Data	2
Blended Phenotype of NOTCH3 and RNF213 Variants With Accelerated Large and Small Artery Crosstalk	2
Clinical Heterogeneity and Candidate Biomarkers in POLG -Related Mitochondrial Disease	2
Utility of 18F-FDG PET/CT in the Surveillance of Patients With Neurofibromatosis Type 1	2
3-Methylglutaconic Aciduria Type I	2
New-Onset Refractory Status Epilepticus Due to a Novel MT-TF Variant	2
NNZ-2591 in Children and Adolescents With Phelan-McDermid Syndrome	2
Expanding the AFG3L2 Spectrum	2
Novel Genetic Variant in HUWE1	2
CGG/CCG Repeat Expansions in LOC642361/NUTM2B-AS1 in Thai Patients With Oculopharyngodistal Myopathy	2
Refractory Epilepsy in Adult Patient With COQ8A Variant Improves With CoQ10 Supplementation	2
Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy	2
Agenesis of Pectoralis Major Muscle in Late-Onset GFPT1 -Related Congenital Myasthenic Syndrome	2
Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q 10 Biosynthesis Disorders	2
Characterization of Sleep in Alternating Hemiplegia of Childhood	2
Late-Onset Ataxia-Telangiectasia Presenting With Dystonia and Tremor	2
Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies	2
Genomic Diagnoses for Ectopic Intracerebral Calcifications	2
Compound Heterozygous Variants of GOSR2 Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy	2