Neurology-Genetics

Article	Citations
The Second Decade of Neurology® Genetics Beckons	75
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans	51
International Survey on Genetic Literacy and Awareness in Patients With Spinal and Bulbar Muscular Atrophy	41
Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora Disease	40
Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics	36
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	32
Identifying Aging and Alzheimer Disease–Associated Somatic Variations in Excitatory Neurons From the Human Frontal Cortex	30
Complex 4q35 and 10q26 Rearrangements	29
Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts	27
Paroxysmal Ataxia	22
Heterozygous HTRA1 Mutations Cause Cerebral Small Vessel Diseases	22
Clinical Clues to the Diagnostic Yield of Genetic Testing in Adults With Late-Onset Behavioral Change	21
Proceedings of the 28th International Stroke Genetics Consortium Workshop	21
Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene	20
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	17
A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria	17
Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome	17
Quantitative Measurement of Glycosylated ⍺-Dystroglycan as a Biomarker for Disease Severity in Limb-Girdle Muscular Dystrophy Type 2I/R9	17
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia	16
Adaptive and Innate Immunity Are Key Drivers of Age at Onset of Multiple Sclerosis	16
Systemic Capillary Leak Syndrome With Cerebral Involvement in a C9orf72 Expansion Carrier	16
PRRT 2 -Related Epilepsy	16
The Genetics of TDP-43 Type C Neurodegeneration	16
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	16

Immunotherapy Responsive Recurrent Post-Infectious Ataxia Associated With Recurrent ATP2B2 Gene Variant	15
TARDBP Mutations in Facial-Onset Sensory and Motor Neuronopathy	15
Cerebral Aneurysms and Recurrent TIAs in a 42-Year-Old Patient With DADA2 Mutation	15
DEGS1 -Related Hypomyelinating Leukodystrophy	14
Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1	14
Blood Biomarkers to Identify Renal Angiomyolipomas in People With Tuberous Sclerosis Complex	14
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy	14
“Chocolate Chip Sign” on Susceptibility-Weighted Imaging	13
Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1	13
SON -Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine	13
Refining the Phenotypic and Genotypic Spectrum of WDR73 -Related Galloway-Mowat Syndrome	13
The Spectrum of Genetic Risk in Alzheimer Disease	13
TRPM8 Mutations Associated With Persistent Pain After Surgical Injury of Corneal Trigeminal Axons	12
Utility of Targeted RNA Analysis in Neurogenetic Disorders	12
Frameshift and Copy Number Variants in SACS -Related Neuropathy	12
Expanding Clinical Spectrum of C9ORF72 -Related Disorders and Promising Therapeutic Strategies	12
Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy	12
Augmenting Diagnostic Yield From Genomic Sequencing	12
Message From the Editors to Our Reviewers	12
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
Dissecting the Shared Genetic Architecture of Common Epilepsies With Cortical Brain Morphology	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
RFC1 Repeat Distribution in the Cypriot Population	11
Genetic Testing for Malformations of Cortical Development	11
Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia	11
Expanding the Phenotype Spectrum of β-Mannosidosis	11
Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype	10
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A	10
Acid Ceramidase Deficiency	10
The Persistence of Duchenne vs Becker Muscular Dystrophies	10
A Phenotypic Atlas for Huntington Disease Based on Data From the Enroll-HD Cohort Study	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
Peripheral Neuropathy in p.Val142Ile (Val122Ile) Variant Hereditary Transthyretin-Mediated Amyloidosis	9
The First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to Nonsynonymous POLR3B Mutations	9
Integrating Genetic Structural Variations and Whole-Genome Sequencing Into Clinical Neurology	9
Novel SERAC1 Variant Presenting With Adult-Onset Extrapyramidal Dystonia-Parkinsonism Phenotype	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
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
IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia	8
Unlocking Genetic Clues	8
Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA- FGF14 -Related Ataxia	8
DNA Methylation of the Natriuretic Peptide System Genes and Ischemic Stroke	8
Post-Traumatic Headache in Children and Genetic Risk of Migraine	8
Plasma isomiRs as Candidate Biomarkers for Amyotrophic Lateral Sclerosis	8
Parent-of-Origin Effect on the Age at Symptom Onset in Myotonic Dystrophy Type 2	8

LAMA2 -Related Muscular Dystrophy Across the Life Span	8
Neurogenetics and Neurology® Genetics	8
Parkinson Disease SNCA Risk Variants Are Associated With Higher Asymmetric Putamen Dopaminergic Dysfunction	8
Long-Read HiFi Genome Sequencing Resolves Retrotransposon-Mediated Deletions in TANGO2 Deficiency Disorder	8
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
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia	7
Novel Neuroimaging Pattern in POLR3A -Related Disorder on 7T MRI	7
Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3	7
Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1 -Related Disorder	7
Investigating the Genetic Relationship Between Vitamin B12 Metabolism and Parkinson Disease	7
Holistic Exome-Based Genetic Testing in Adults With Epilepsy	7
Parkinson Disease Pathogenic Variants	7
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy	7
Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia	7
Complete Agenesis of Corpus Callosum in KCNQ2 -Related Neonatal Epileptic Encephalopathy	7
Distinguishing Loss-of-Function and Gain-of-Function SCN8A Variants Using a Random Forest Classification Model Trained on Clinical Features	7
Expanding the Allelic Heterogeneity of ANO10 -Associated Autosomal Recessive Cerebellar Ataxia	7
Increased Serum Levels of miR-125b and miR-132 in Fragile X Syndrome	6
High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete	6
Adult Phenotype of SYNGAP1 -DEE	6
Neuropathology-Independent Association Between APOE Genotype and Cognitive Decline Rate in the Normal Aging-Early Alzheimer Continuum	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
Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing	6
Proceedings of the 27th International Stroke Genetics Consortium Workshop	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
CSF1R -Related Disorder	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
Monogenic Mimics of Neuroinflammatory Phenotypes in Children and Young Adults	5
KIF5C -Related Neurodevelopmental Disorder	5
The Spastic Paraplegia–Centers of Excellence Research Network (SP-CERN)	5
Genome Sequencing in the Parkinson Disease Clinic	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
Motor Function in Limb-Girdle Muscular Dystrophy R1/2A	5
Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of LMNB1 -Related Autosomal Dominant Leukodystrophy	5
Effect of the RNF213 p.R4810K Variant on the Progression of Intracranial Artery Stenosis	5
Updated Genetic Analysis of Japanese Familial ALS Patients Carrying SOD1 Variants Revealed Phenotypic Differences for Common Variants	5
Genetic Risk for Alzheimer Disease and Plasma Tau Are Associated With Accelerated Parietal Cortex Thickness Change in Middle-Aged Adults	5
Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology	5
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
Developing a National Network for Leukodystrophy Research and Care in Canada	5
More Than APOE : Genetic Predictors in Alzheimer Disease in APOE ε3 Carriers	5
Novel AIFM1 Variant in 2 Siblings With Sensorineural Hearing Loss and Cerebellar Ataxia	5
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy	5
Case of Autosomal Dominant Alzheimer Disease With Negative Findings From PiB-PET Examination	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
Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2 -Associated Infantile Epilepsy	4
Single Nucleotide SMN1 Variants in a Cohort of Individuals With Spinal Muscular Atrophy	4
Dipping Into the Phenotypic Implications of Mosaic Variants	4
Prognostic Significance of NOTCH3 Small Vessel Disease Staging for the NOTCH3 p.R544C Variant	4
Genetic and Phenotypic Variability in Siblings With Friedreich Ataxia	4
Diagnostic Accuracy of Clinical Manifestations in Identifying People With Tuberous Sclerosis Complex	4
A Case of Multiple Intracranial Major Artery Stenoses With Coexisting PCSK9 p.E32K and RNF213 p.R4810K Var	4
Whole Genome Variable Number Tandem Repeat Analysis in Alzheimer Disease	4
Expanding the Clinical Spectrum of Arboleda-Tham Syndrome	4
Neonatal Encephalopathy	4
New Mission, New Reviews, New Word Counts, Oh My!	4
Genome-wide Analysis of Motor Progression in Parkinson Disease	4
A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia	4
Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant	4
Adult Phenotype of CHD2 -Associated Disorders	4
C9orf72 Repeat Expansion Discordance in 6 Multigenerational Kindreds	4
Biallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy	4
Cerebellar Ataxia and Peripheral Neuropathy in a Family With PNPLA8 -Associated Disease	4
Identification of Sex-Specific Genetic Variants Associated With Tau PET	4
Search for Additional Pathogenic Variants to Explain Variation in PMP22 -Related Neuropathies	4
ATP1A3 Disease Spectrum Includes Paroxysmal Weakness and Encephalopathy Not Triggered by Fever	4
Association of Family History and Polygenic Risk Score With Longitudinal Prognosis in Parkinson Disease	4
Machine Learning Approach for the Prediction of Age-Specific Probability of SCA3 and DRPLA by Survival Curve Analysis	4
Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy	4
Questioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral Sclerosis	4
Examining the Performance of Polygenic Risk Scores for Alzheimer Disease Within and Across Populations Using k -Fold Cross-Validation	4

Familial Brain Calcifications With Leukoencephalopathy	4
Elicited Repetitive Daily Blindness Associated With Gain-of-Function SCN1A Variants and Responsiveness to Sodium Channel Blockers	4
Assessment and Treatment of Cutaneous Neurofibromas in Neurofibromatosis Type 1	4
CircPDS5B Reduction Improves Angiogenesis Following Ischemic Stroke by Regulating MicroRNA-223-3p/NOTCH2 Axis	4
Novel Biallelic Synonymous Exonic Variant in VPS13A Affecting mRNA Splicing	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
DNAJC12 Disease	3
Perisylvian and Hippocampal Anomalies in Individuals With Pathogenic GRIN2A Variants	3
Pathogenic Variants in A TP1A3	3
Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis	3
Late-Onset Ataxia-Telangiectasia Presenting With Dystonia and Tremor	3
Reducing Body Myopathy in Female Patients With FHL1 Variants Showing Rapid and Severe Evolution Mimicking Inflammatory Myopathy	3
Expanding the Genetic Landscape of ATXN2 Variants	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
Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility	3
Correction to Preprint Server Information	3
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency	3
A Retrospective Cohort Study of the GLA c.937G > T, p.Asp313Tyr Variant With No Evidence of an Association With Fabry Disease	3
Genetic Insights Into Hypothalamic Hamartoma	3
Genetic Architecture of Cerebral White Matter Hyperintensities in Diverse Hispanic/Latino Adults	3
Functional Characterization of a De Novo SCN2A Mixed Variant Linked to Early Infantile Developmental and Epileptic Encephalopathy	3
CWH43 Variants Are Associated With Disease Risk and Clinical Phenotypic Measures in Patients With Normal Pressure Hydrocephalus	3
Serum NOTCH3Extracellular Domain in Patients With CADASIL	3
Association of the Recurrent ATP1 A1 Variant p.Gly549Arg With Intermediate CMT and Loss of Na,K-ATPase Function	3
Pilot Study of Fingolimod Treatment in Neuronal Ceroid Lipofuscinosis Type 1	3
Compound Heterozygous COA7 Variants Presenting With Childhood-Onset Axonal Neuropathy in 2 Siblings	3
High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease	3
Overview of the Clinical Approach to Individuals With Cerebellar Ataxia and Neuropathy	3
Neurodevelopmental and Neurologic Manifestations of PTEN Hamartoma Tumor Syndrome	3
Expanding Clinical Spectrum of C9ORF72 -Related Disorders and Promising Therapeutic Strategies	3
Primary Progressive Apraxia of Speech Caused by TDP-43	3
Fetal Brain MRI Findings in Myotonic Dystrophy and Considerations for Prenatal Genetic Testing	2
Startle Disease	2
Utility of 18F-FDG PET/CT in the Surveillance of Patients With Neurofibromatosis Type 1	2
Clinical Heterogeneity and Candidate Biomarkers in POLG -Related Mitochondrial Disease	2
Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in the RTTN Gene	2
Metabolic Malfunction Mars Muscle Mitochondria	2
Genomic Diagnoses for Ectopic Intracerebral Calcifications	2
Redefining the Pathogenic CAG Repeat Units Threshold in CACNA1A for Spinocerebellar Ataxia Type 6	2
Novel VRK1 Variants and a Founder Effect in Axonal Polyneuropathy	2
Agenesis of Pectoralis Major Muscle in Late-Onset GFPT1 -Related Congenital Myasthenic Syndrome	2
Combating Genetic Heterogeneity for Polygenic Prediction of Susceptibility to Brain β-Amyloid Deposition	2
Sex-Based Differences in Disease Burden and Phenotype in CADASIL	2
Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies	2
Disentangling the Causal Effects of Education and Participation Bias on Alzheimer Disease Using Mendelian Randomization	2
Novel SLC13A3 Variants and Cases of Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation and Literature Review	2
Diagnostic Genetic Findings From Exome Sequencing in a Cohort of 1,109 Children With Epilepsy	2
Vanishing White Matter Disease Presenting as Dementia and Infertility	2
Genetic Risk Factors for Intracerebral Hemorrhage in Populations of East Asian Ancestry	2
CGG/CCG Repeat Expansions in LOC642361/NUTM2B-AS1 in Thai Patients With Oculopharyngodistal Myopathy	2
Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q 10 Biosynthesis Disorders	2
Valosin-Containing Protein Multisystem Proteinopathy and Myopathology	2
Characterization of Sleep in Alternating Hemiplegia of Childhood	2
Parkinson Disease Genetics Extended to African and Hispanic Ancestries in the VA Million Veteran Program	2
New-Onset Refractory Status Epilepticus Due to a Novel MT-TF Variant	2
Clinical Trial Designs for Rare Disorders	2
Expanding the Molecular and Pathologic Spectrum of HSPB8 Myopathy and Distal Motor Neuropathy	2
Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3 -Related Syndrome	2
Autosomal Dominant FTH1 Variant Causing Pontocerebellar Hypoplasia and Late-Onset Neuroferritinopathy	2
Refractory Epilepsy in Adult Patient With COQ8A Variant Improves With CoQ10 Supplementation	2
Expanding the AFG3L2 Spectrum	2
Blended Phenotype of NOTCH3 and RNF213 Variants With Accelerated Large and Small Artery Crosstalk	2
Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy	2
Macrostructural Brain Abnormalities in Spinal Muscular Atrophy	2
Migraine, Stroke, and Cervical Arterial Dissection	2
NNZ-2591 in Children and Adolescents With Phelan-McDermid Syndrome	2
3-Methylglutaconic Aciduria Type I	2