Neurology-Genetics

Article	Citations
Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts	42
African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants	33
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	32
Paroxysmal Ataxia	30
The Second Decade of Neurology® Genetics Beckons	30
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans	28
Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics	27
Migraine, Stroke, and Cervical Arterial Dissection	27
Heterozygous HTRA1 Mutations Cause Cerebral Small Vessel Diseases	26
Complex 4q35 and 10q26 Rearrangements	26
Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome	25
Identifying Aging and Alzheimer Disease–Associated Somatic Variations in Excitatory Neurons From the Human Frontal Cortex	25
Adaptive and Innate Immunity Are Key Drivers of Age at Onset of Multiple Sclerosis	24
CSF MicroRNAs Reveal Impairment of Angiogenesis and Autophagy in Parkinson Disease	23
Proceedings of the 28th International Stroke Genetics Consortium Workshop	21
A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria	20
Progressive Apraxia of Speech as a Manifestation of Spinocerebellar Ataxia 2	20
Systemic Capillary Leak Syndrome With Cerebral Involvement in a C9orf72 Expansion Carrier	19
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia	19
Tau Pathology Associated With Parkinsonism and Mutation of Mitochondrial DNA Helicase Gene TWNK	18
Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene	18
Improvement of an External Predictive Model Based on New Information Using a Synthetic Data Approach	17
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	17
TARDBP Mutations in Facial-Onset Sensory and Motor Neuronopathy	16
Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness	16

Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1	14
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy	14
Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1	14
Adult-Onset Spinal Muscular Atrophy due to Mutations in the VRK1 Gene	14
SON -Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine	13
Cerebral Aneurysms and Recurrent TIAs in a 42-Year-Old Patient With DADA2 Mutation	13
Immunotherapy Responsive Recurrent Post-Infectious Ataxia Associated With Recurrent ATP2B2 Gene Variant	12
“Chocolate Chip Sign” on Susceptibility-Weighted Imaging	12
Message From the Editors to Our Reviewers	12
The Spectrum of Genetic Risk in Alzheimer Disease	12
Diagnosis of Shashi-Pena Syndrome Caused by Chromosomal Rearrangement Using Nanopore Sequencing	11
Recessive COL4A2 Mutation Leads to Intellectual Disability, Epilepsy, and Spastic Cerebral Palsy	11
TRPM8 Mutations Associated With Persistent Pain After Surgical Injury of Corneal Trigeminal Axons	11
Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy	11
Case of Neuronal Intranuclear Inclusion Disease With Dynamic Perfusion Changes Lacking Typical Signs on Diffusion-Weighted Imaging	10
Homozygous SOD1 Variation L144S Produces a Severe Form of Amyotrophic Lateral Sclerosis in an Iranian Family	10
Expanding Clinical Spectrum of C9ORF72 -Related Disorders and Promising Therapeutic Strategies	10
Novel Mutation of the TGF-β 3 Protein (Loeys-Dietz Type 5) Associated With Aortic and Carotid Dissections	10
A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia	10
Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo	10
A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation	10
Genetic Testing for Malformations of Cortical Development	9
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy	9
The Persistence of Duchenne vs Becker Muscular Dystrophies	9
RFC1 Repeat Distribution in the Cypriot Population	9
Adult-Onset Ataxia With Neuropathy and White Matter Abnormalities Due to a Novel SAMD9L Variant	9
Acid Ceramidase Deficiency	9
Dissecting the Shared Genetic Architecture of Common Epilepsies With Cortical Brain Morphology	9
PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1	9
Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2	9
Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss	9
Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia	9
Occurrence of Amyotrophic Lateral Sclerosis in Type 1 Gaucher Disease	8
Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype	8
The First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to Nonsynonymous POLR3B Mutations	8
A Phenotypic Atlas for Huntington Disease Based on Data From the Enroll-HD Cohort Study	8
Integrating Genetic Structural Variations and Whole-Genome Sequencing Into Clinical Neurology	8
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A	8
Novel SERAC1 Variant Presenting With Adult-Onset Extrapyramidal Dystonia-Parkinsonism Phenotype	8
Integrative Network-Based Analysis Reveals Gene Networks and Novel Drug Repositioning Candidates for Alzheimer Disease	7
Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA- FGF14 -Related Ataxia	7
Clinical Deep Phenotyping of ABCA7 Mutation Carriers	7
IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia	7
Parent-of-Origin Effect on the Age at Symptom Onset in Myotonic Dystrophy Type 2	7
DNA Methylation of the Natriuretic Peptide System Genes and Ischemic Stroke	7
Distinguishing Loss-of-Function and Gain-of-Function SCN8A Variants Using a Random Forest Classification Model Trained on Clinical Features	7
Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication	7
Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia	7
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation	7
Novel Neuroimaging Pattern in POLR3A -Related Disorder on 7T MRI	7

Genetic and Functional Analysis of Glycosyltransferase 8 Domain–Containing Protein 1 in Taiwanese Patients With Amyotrophic Lateral Sclerosis	7
LAMA2 -Related Muscular Dystrophy Across the Life Span	7
Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3	6
Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia	6
Confirming Pathogenicity of the F386L PSEN1 Variant in a South Asian Family With Early-Onset Alzheimer Disease	6
Novel TOP3A Variant Associated With Mitochondrial Disease	6
Increased Serum Levels of miR-125b and miR-132 in Fragile X Syndrome	6
Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1 -Related Disorder	6
Expanding the Allelic Heterogeneity of ANO10 -Associated Autosomal Recessive Cerebellar Ataxia	6
TTN -Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant	6
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia	6
High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete	6
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy	6
SMN1 Duplications Are Associated With Progressive Muscular Atrophy, but Not With Multifocal Motor Neuropathy and Primary Lateral Sclerosis	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	5
Complete Agenesis of Corpus Callosum in KCNQ2 -Related Neonatal Epileptic Encephalopathy	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
Proceedings of the 27th International Stroke Genetics Consortium Workshop	5
Women With Genetic Epilepsies	5
Migraine, Stroke, and Cervical Arterial Dissection	5
PURA- Related Developmental and Epileptic Encephalopathy	5
Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing	5
Neuropathology-Independent Association Between APOE Genotype and Cognitive Decline Rate in the Normal Aging-Early Alzheimer Continuum	5
KCNQ2 Encephalopathy Manifesting With Rett-like Features	5
Body Mass Index and Height in Friedreich Ataxia	5
The Spastic Paraplegia–Centers of Excellence Research Network (SP-CERN)	5
Cross-sectional Observations on the Natural History of Mucolipidosis Type IV	5
Case of Autosomal Dominant Alzheimer Disease With Negative Findings From PiB-PET Examination	5
CSF1R -Related Disorder	5
Phenotype of Patients With Charcot-Marie-Tooth With the p.His123Arg Mutation in GDAP1 in Northern Finland	5
Mild Malformation of Cortical Development With Oligodendroglial Hyperplasia and Epilepsy	5
Adult Phenotype of SYNGAP1 -DEE	5
Genome Sequencing in the Parkinson Disease Clinic	5
Updated Genetic Analysis of Japanese Familial ALS Patients Carrying SOD1 Variants Revealed Phenotypic Differences for Common Variants	5
Effect of the RNF213 p.R4810K Variant on the Progression of Intracranial Artery Stenosis	5
Cerebellar Micro-RNA Profile in a Mouse Model of Spinocerebellar Ataxia Type 2	5
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy	4
Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology	4
Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy	4
C9orf72 Repeat Expansion Discordance in 6 Multigenerational Kindreds	4
ATP1A3 Disease Spectrum Includes Paroxysmal Weakness and Encephalopathy Not Triggered by Fever	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
CircPDS5B Reduction Improves Angiogenesis Following Ischemic Stroke by Regulating MicroRNA-223-3p/NOTCH2 Axis	4
Ataxia and Parkinsonism in a Woman With a VCP Variant and Long-Normal Repeats in the SCA2 Allele	4
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency	4
A 3.9-Mb Deletion on 2p11.2 Comprising the REEP1 Gene Causes Early-Onset Atypical Parkinsonism	4
Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era	4
Neonatal Encephalopathy	4
Novel Cysteine-Sparing Hypomorphic NOTCH3 A1604T Mutation Observed in a Family With Migraine and White Matter Lesions	4
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy	4
Identification of Sex-Specific Genetic Variants Associated With Tau PET	4
Dysfunctional Homozygous VRK1-D263G Variant Impairs the Assembly of Cajal Bodies and DNA Damage Response in Hereditary Spastic Paraplegia	4
Not Just Loss-of-Function Variations	4
Genetic Risk for Alzheimer Disease and Plasma Tau Are Associated With Accelerated Parietal Cortex Thickness Change in Middle-Aged Adults	4
Whole Genome Variable Number Tandem Repeat Analysis in Alzheimer Disease	4
Body Mass Index and Height in the Friedreich Ataxia Clinical Outcome Measures Study	4
A Case of Multiple Intracranial Major Artery Stenoses With Coexisting PCSK9 p.E32K and RNF213 p.R4810K Variants	4
Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing	4
Cerebellar Ataxia and Peripheral Neuropathy in a Family With PNPLA8 -Associated Disease	4
Expanding Clinical Spectrum of C9ORF72 -Related Disorders and Promising Therapeutic Strategies	3
Genome-wide Analysis of Motor Progression in Parkinson Disease	3
Highly Elevated Prevalence of Spinobulbar Muscular Atrophy in Indigenous Communities in Canada Due to a Founder Effect	3
Revealing the Timeline of Structural MRI Changes in Premanifest to Manifest Huntington Disease	3
Association of DMD Gene Variant Classes With Motor Outcomes in a Drug Registration Clinical Trial Setting	3
A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia	3
Questioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral Sclerosis	3
Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis	3
Genetic Predisposition to Mosaic Chromosomal Loss Is Associated With Functional Outcome After Ischemic Stroke	3
Dipping Into the Phenotypic Implications of Mosaic Variants	3
Examining the Performance of Polygenic Risk Scores for Alzheimer Disease Within and Across Populations Using k -Fold Cross-Validation	3
New Mission, New Reviews, New Word Counts, Oh My!	3
Miglustat Therapy for SCARB2 -Associated Action Myoclonus–Renal Failure Syndrome	3
Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort	3
Genetic and Phenotypic Variability in Siblings With Friedreich Ataxia	3
Genetic Insights Into Hypothalamic Hamartoma	3
Biallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy	3
Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant	3

Adult Cerebellar Ataxia, Axonal Neuropathy, and Sensory Impairments Caused by Biallelic SCO2 Variants	3
Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy	3
Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2 -Associated Infantile Epilepsy	3
Familial Brain Calcifications With Leukoencephalopathy	3
Machine Learning Approach for the Prediction of Age-Specific Probability of SCA3 and DRPLA by Survival Curve Analysis	3
Adult Phenotype of CHD2 -Associated Disorders	3
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency	3
Correction to Preprint Server Information	3
Genetic Influences on Hippocampal Subfields	3
Genomic Diagnoses for Ectopic Intracerebral Calcifications	2
Cell-Type Specificity of Mosaic Chromosome 1q Gain Resolved by snRNA-seq in a Case of Epilepsy With Hyaline Protoplasmic Astrocytopathy	2
Parkinson Disease Genetics Extended to African and Hispanic Ancestries in the VA Million Veteran Program	2
Fetal Brain MRI Findings in Myotonic Dystrophy and Considerations for Prenatal Genetic Testing	2
Pathogenic DNM1 Gene Variant Presenting With Unusually Nonsevere Neurodevelopmental Phenotype: A Case Report	2
Startle Disease	2
CWH43 Variants Are Associated With Disease Risk and Clinical Phenotypic Measures in Patients With Normal Pressure Hydrocephalus	2
Overview of the Clinical Approach to Individuals With Cerebellar Ataxia and Neuropathy	2
Perisylvian and Hippocampal Anomalies in Individuals With Pathogenic GRIN2A Variants	2
Migraine, Stroke, and Cervical Arterial Dissection	2
Late-Onset Ataxia-Telangiectasia Presenting With Dystonia and Tremor	2
Agenesis of Pectoralis Major Muscle in Late-Onset GFPT1 -Related Congenital Myasthenic Syndrome	2
Novel SLC13A3 Variants and Cases of Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation and Literature Review	2
Effect of Body Weight on Age at Onset in Huntington Disease	2
Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q 10 Biosynthesis Disorders	2
High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease	2
mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development	2
Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia	2
Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies	2
Primary Progressive Apraxia of Speech Caused by TDP-43	2
Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3 -Related Syndrome	2
Progressive Myoclonus Epilepsies	2
3-Methylglutaconic Aciduria Type I	2
New-Onset Refractory Status Epilepticus Due to a Novel MT-TF Variant	2
Macrostructural Brain Abnormalities in Spinal Muscular Atrophy	2
Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility	2
Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort	2