Neurology-Genetics

Article	Citations
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	56
Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora Disease	49
Complex 4q35 and 10q26 Rearrangements	43
The Second Decade of Neurology® Genetics Beckons	36
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans	33
Paroxysmal Ataxia	33
Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics	33
Heterozygous HTRA1 Mutations Cause Cerebral Small Vessel Diseases	29
Identifying Aging and Alzheimer Disease–Associated Somatic Variations in Excitatory Neurons From the Human Frontal Cortex	27
Migraine, Stroke, and Cervical Arterial Dissection	26
Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts	26
Adaptive and Innate Immunity Are Key Drivers of Age at Onset of Multiple Sclerosis	24
Proceedings of the 28th International Stroke Genetics Consortium Workshop	20
PRRT 2 -Related Epilepsy	20
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia	19
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
Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene	18
Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome	16
Improvement of an External Predictive Model Based on New Information Using a Synthetic Data Approach	16
A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria	16
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	15
TARDBP Mutations in Facial-Onset Sensory and Motor Neuronopathy	15
SON -Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine	14
Immunotherapy Responsive Recurrent Post-Infectious Ataxia Associated With Recurrent ATP2B2 Gene Variant	14

Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy	14
Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1	13
Blood Biomarkers to Identify Renal Angiomyolipomas in People With Tuberous Sclerosis Complex	13
The Spectrum of Genetic Risk in Alzheimer Disease	13
Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1	13
Refining the Phenotypic and Genotypic Spectrum of WDR73 -Related Galloway-Mowat Syndrome	13
“Chocolate Chip Sign” on Susceptibility-Weighted Imaging	13
Cerebral Aneurysms and Recurrent TIAs in a 42-Year-Old Patient With DADA2 Mutation	13
Message From the Editors to Our Reviewers	12
Outcomes in Early-Treated Guanidinoacetate Methyltransferase Deficiency	12
TRPM8 Mutations Associated With Persistent Pain After Surgical Injury of Corneal Trigeminal Axons	12
Frameshift and Copy Number Variants in SACS -Related Neuropathy	12
Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy	12
RFC1 Repeat Distribution in the Cypriot Population	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	11
Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo	11
Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2	11
Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss	11
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
Expanding the Phenotype Spectrum of β-Mannosidosis	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
Genetic Testing for Malformations of Cortical Development	10
Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia	10
Homozygous SOD1 Variation L144S Produces a Severe Form of Amyotrophic Lateral Sclerosis in an Iranian Family	10
The Persistence of Duchenne vs Becker Muscular Dystrophies	10
Acid Ceramidase Deficiency	10
Unlocking Genetic Clues	9
The First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to Nonsynonymous POLR3B Mutations	9
Peripheral Neuropathy in p.Val142Ile (Val122Ile) Variant Hereditary Transthyretin-Mediated Amyloidosis	9
Integrating Genetic Structural Variations and Whole-Genome Sequencing Into Clinical Neurology	9
Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy	9
A Phenotypic Atlas for Huntington Disease Based on Data From the Enroll-HD Cohort Study	9
Novel SERAC1 Variant Presenting With Adult-Onset Extrapyramidal Dystonia-Parkinsonism Phenotype	9
Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype	9
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes	9
Long-Read Sequencing Unveils an Intronic ASPA Retrotransposon Variant Implicated in Canavan Disease	9
Parkinson Disease SNCA Risk Variants Are Associated With Higher Asymmetric Putamen Dopaminergic Dysfunction	8
IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia	8
Holistic Exome-Based Genetic Testing in Adults With Epilepsy	8
Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA- FGF14 -Related Ataxia	8
LAMA2 -Related Muscular Dystrophy Across the Life Span	8
DNA Methylation of the Natriuretic Peptide System Genes and Ischemic Stroke	8
Parent-of-Origin Effect on the Age at Symptom Onset in Myotonic Dystrophy Type 2	8
Distinguishing Loss-of-Function and Gain-of-Function SCN8A Variants Using a Random Forest Classification Model Trained on Clinical Features	8
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation	8
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia	7
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy	7

Complete Agenesis of Corpus Callosum in KCNQ2 -Related Neonatal Epileptic Encephalopathy	7
Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1 -Related Disorder	7
Novel Neuroimaging Pattern in POLR3A -Related Disorder on 7T MRI	7
Clinical Deep Phenotyping of ABCA7 Mutation Carriers	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
Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia	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
CSF1R -Related Disorder	6
Mild Malformation of Cortical Development With Oligodendroglial Hyperplasia and Epilepsy	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
Genome Sequencing in the Parkinson Disease Clinic	6
Migraine, Stroke, and Cervical Arterial Dissection	6
Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing	6
Neuropathology-Independent Association Between APOE Genotype and Cognitive Decline Rate in the Normal Aging-Early Alzheimer Continuum	6
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants	6
Novel AIFM1 Variant in 2 Siblings With Sensorineural Hearing Loss and Cerebellar Ataxia	6
Women With Genetic Epilepsies	6
Adult Phenotype of SYNGAP1 -DEE	6
High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete	6
SLC29A3 Pathogenic Variants Resulting in Dural Based Fibroinflammatory Mass Lesions and H Syndrome Treated With Cobimetinib	6
Confirming Pathogenicity of the F386L PSEN1 Variant in a South Asian Family With Early-Onset Alzheimer Disease	6
Proceedings of the 27th International Stroke Genetics Consortium Workshop	6
Cerebellar Micro-RNA Profile in a Mouse Model of Spinocerebellar Ataxia Type 2	6
The Spastic Paraplegia–Centers of Excellence Research Network (SP-CERN)	6
Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of LMNB1 -Related Autosomal Dominant Leukodystrophy	5
C9orf72 Repeat Expansion Discordance in 6 Multigenerational Kindreds	5
Targeted Therapy of GRIA1 -Related Epilepsy and Intellectual Disability With Perampanel	5
Case of Autosomal Dominant Alzheimer Disease With Negative Findings From PiB-PET Examination	5
Genetic Risk for Alzheimer Disease and Plasma Tau Are Associated With Accelerated Parietal Cortex Thickness Change in Middle-Aged Adults	5
Cross-sectional Observations on the Natural History of Mucolipidosis Type IV	5
Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy	5
Whole Genome Variable Number Tandem Repeat Analysis in Alzheimer Disease	5
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency	5
Updated Genetic Analysis of Japanese Familial ALS Patients Carrying SOD1 Variants Revealed Phenotypic Differences for Common Variants	5
Prevalence and Characteristics of Pathogenic Variants in Taiwanese Patients With Cerebral Small Vessel Disease	5
Not Just Loss-of-Function Variations	5
Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology	5
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy	5
Monogenic Mimics of Neuroinflammatory Phenotypes in Children and Young Adults	5
Effect of the RNF213 p.R4810K Variant on the Progression of Intracranial Artery Stenosis	5
More Than APOE : Genetic Predictors in Alzheimer Disease in APOE ε3 Carriers	5
Motor Function in Limb-Girdle Muscular Dystrophy R1/2A	5
Developing a National Network for Leukodystrophy Research and Care in Canada	5
A Case of Multiple Intracranial Major Artery Stenoses With Coexisting PCSK9 p.E32K and RNF213 p.R4810K Variants	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
Questioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral Sclerosis	4
Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant	4
Adult Phenotype of CHD2 -Associated Disorders	4
CircPDS5B Reduction Improves Angiogenesis Following Ischemic Stroke by Regulating MicroRNA-223-3p/NOTCH2 Axis	4
Search for Additional Pathogenic Variants to Explain Variation in PMP22 -Related Neuropathies	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
Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2 -Associated Infantile Epilepsy	4
Familial Brain Calcifications With Leukoencephalopathy	4
Dipping Into the Phenotypic Implications of Mosaic Variants	4
A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia	4
Genetic and Phenotypic Variability in Siblings With Friedreich Ataxia	4
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy	4
Neonatal Encephalopathy	4
Novel Biallelic Synonymous Exonic Variant in VPS13A Affecting mRNA Splicing	4
Association of DMD Gene Variant Classes With Motor Outcomes in a Drug Registration Clinical Trial Setting	4
New Mission, New Reviews, New Word Counts, Oh My!	4
Genetic Insights Into Hypothalamic Hamartoma	4
Single Nucleotide SMN1 Variants in a Cohort of Individuals With Spinal Muscular Atrophy	4
Examining the Performance of Polygenic Risk Scores for Alzheimer Disease Within and Across Populations Using k -Fold Cross-Validation	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
ATP1A3 Disease Spectrum Includes Paroxysmal Weakness and Encephalopathy Not Triggered by Fever	4
Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility	3
Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis	3
Neurodevelopmental and Neurologic Manifestations of PTEN Hamartoma Tumor Syndrome	3
CWH43 Variants Are Associated With Disease Risk and Clinical Phenotypic Measures in Patients With Normal Pressure Hydrocephalus	3
New-Onset Refractory Status Epilepticus Due to a Novel MT-TF Variant	3
Genetic Architecture of Cerebral White Matter Hyperintensities in Diverse Hispanic/Latino Adults	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

Primary Progressive Apraxia of Speech Caused by TDP-43	3
Correction to Preprint Server Information	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
Overview of the Clinical Approach to Individuals With Cerebellar Ataxia and Neuropathy	3
Serum NOTCH3Extracellular Domain in Patients With CADASIL	3
Disentangling the Causal Effects of Education and Participation Bias on Alzheimer Disease Using Mendelian Randomization	3
Novel SLC13A3 Variants and Cases of Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation and Literature Review	3
Startle Disease	3
Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia	3
Association of the Recurrent ATP1 A1 Variant p.Gly549Arg With Intermediate CMT and Loss of Na,K-ATPase Function	3
Expanding Clinical Spectrum of C9ORF72 -Related Disorders and Promising Therapeutic Strategies	3
Perisylvian and Hippocampal Anomalies in Individuals With Pathogenic GRIN2A Variants	3
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency	3
Cell-Type Specificity of Mosaic Chromosome 1q Gain Resolved by snRNA-seq in a Case of Epilepsy With Hyaline Protoplasmic Astrocytopathy	3
Late-Onset Ataxia-Telangiectasia Presenting With Dystonia and Tremor	3
Pathogenic Variants in A TP1A3	3
Fetal Brain MRI Findings in Myotonic Dystrophy and Considerations for Prenatal Genetic Testing	3
High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease	3
Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies	3
Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort	3
Combating Genetic Heterogeneity for Polygenic Prediction of Susceptibility to Brain β-Amyloid Deposition	2
Compound Heterozygous Variants of GOSR2 Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy	2
Spectrum of Phenotypes in SMA Patients With 4 SMN2 Copies in the French Population	2
Refractory Epilepsy in Adult Patient With COQ8A Variant Improves With CoQ10 Supplementation	2
Expanding the Clinical Spectrum of UBTF -Related Neurodevelopmental Disorder	2
Blended Phenotype of NOTCH3 and RNF213 Variants With Accelerated Large and Small Artery Crosstalk	2
Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3 -Related Syndrome	2
Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q 10 Biosynthesis Disorders	2
Parkinson Disease Genetics Extended to African and Hispanic Ancestries in the VA Million Veteran Program	2
Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network	2
Longitudinal Analysis of Respiratory Function of Different Types of Limb Girdle Muscular Dystrophies Reveals Independent Trajectories	2
Vanishing White Matter Disease Presenting as Dementia and Infertility	2
Metabolic Malfunction Mars Muscle Mitochondria	2
Migraine, Stroke, and Cervical Arterial Dissection	2
Macrostructural Brain Abnormalities in Spinal Muscular Atrophy	2
3-Methylglutaconic Aciduria Type I	2
Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy	2
Novel Genetic Variant in HUWE1	2
A Fast and Robust Strategy to Remove Variant-Level Artifacts in Alzheimer Disease Sequencing Project Data	2
Review of the Genetic Spectrum of Hereditary Spastic Paraplegias in the Middle East and North Africa Regions	2
CGG/CCG Repeat Expansions in LOC642361/NUTM2B-AS1 in Thai Patients With Oculopharyngodistal Myopathy	2
Valosin-Containing Protein Multisystem Proteinopathy and Myopathology	2
Genomic Diagnoses for Ectopic Intracerebral Calcifications	2
Agenesis of Pectoralis Major Muscle in Late-Onset GFPT1 -Related Congenital Myasthenic Syndrome	2
Redefining the Pathogenic CAG Repeat Units Threshold in CACNA1A for Spinocerebellar Ataxia Type 6	2