Neurology-Genetics

Article	Citations
Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices	42
V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations	36
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans	34
Phenotypic Spectrum of DNM2 -Related Centronuclear Myopathy	33
Identifying Aging and Alzheimer Disease–Associated Somatic Variations in Excitatory Neurons From the Human Frontal Cortex	32
Alanyl-tRNA Synthetase 1 Gene Variants in Hereditary Neuropathy	30
DNA Methylation of the Natriuretic Peptide System Genes and Ischemic Stroke	28
Identification of Sex-Specific Genetic Variants Associated With Tau PET	27
Spinocerebellar Ataxia Type 2	26
Somatic Variants in SVIL in Cerebral Aneurysms	25
Involvement of the Superior Cerebellar Peduncles in GAA- FGF14 Ataxia	25
Novel Synonymous and Frameshift Variants in the TRIP12 Gene Identified in 2 Chinese Patients With Intellectual Disability	24
Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features	24
Blended Phenotype of NOTCH3 and RNF213 Variants With Accelerated Large and Small Artery Crosstalk	23
Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant	23
CircPDS5B Reduction Improves Angiogenesis Following Ischemic Stroke by Regulating MicroRNA-223-3p/NOTCH2 Axis	22
Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis	21
Blended Phenotype of Prader-Willi Syndrome and HSP- SPG11 Caused by Maternal Uniparental Isodisomy	20
Predominant Spastic Paraparesis Associated With the D178N Mutation in PRNP	19
Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia	19
Clinicoradiologic Criteria for the Diagnosis of Stroke-like Episodes in MELAS	18
Complex 4q35 and 10q26 Rearrangements	18
LAMA2 -Related Muscular Dystrophy Across the Life Span	17
The Second Decade of Neurology® Genetics Beckons	17
Redefining the Pathogenic CAG Repeat Units Threshold in CACNA1A for Spinocerebellar Ataxia Type 6	17

IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia	16
Frequency and Phenotype Associations of Rare Variants in 5 Monogenic Cerebral Small Vessel Disease Genes in 200,000 UK Biobank Participants	16
Paroxysmal Ataxia	16
Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics	16
TNNI1 Mutated in Autosomal Dominant Proximal Arthrogryposis	16
Association of HLA-DQA2 and HLA-B With Moyamoya Disease in the Chinese Han Population	15
Parent-of-Origin Effect on the Age at Symptom Onset in Myotonic Dystrophy Type 2	14
Heterozygous HTRA1 Mutations Cause Cerebral Small Vessel Diseases	13
Erythromelalgia: A Child With V400M Mutation in the SCN9A Gene	13
Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing	13
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	13
African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants	12
Novel Biallelic Synonymous Exonic Variant in VPS13A Affecting mRNA Splicing	12
Migraine, Stroke, and Cervical Arterial Dissection	12
ATP1A3 Disease Spectrum Includes Paroxysmal Weakness and Encephalopathy Not Triggered by Fever	12
Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA- FGF14 -Related Ataxia	11
A Novel Pattern of Dystonia in DYT- VPS16	11
Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy	11
Genomic Diagnoses for Ectopic Intracerebral Calcifications	11
A Case of Multiple Intracranial Major Artery Stenoses With Coexisting PCSK9 p.E32K and RNF213 p.R4810K Variants	10
Ataxia and Diplopia	10
Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts	10
Association of Family History and Polygenic Risk Score With Longitudinal Prognosis in Parkinson Disease	9
Role of Rho-Associated Kinase in the Pathophysiology of Cerebral Cavernous Malformations	9
Cerebellar Ataxia and Peripheral Neuropathy in a Family With PNPLA8 -Associated Disease	9
Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia	9
Review of Phenotypic Heterogeneity of Neuronal Intranuclear Inclusion Disease and NOTCH2NLC -Related GGC Repeat Expansion Disorders	9
Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication	9
Global Presence and Penetrance of CSF1R -Related Disorder	9
Integrative Network-Based Analysis Reveals Gene Networks and Novel Drug Repositioning Candidates for Alzheimer Disease	9
Distinguishing Loss-of-Function and Gain-of-Function SCN8A Variants Using a Random Forest Classification Model Trained on Clinical Features	9
Migraine, Stroke, and Cervical Arterial Dissection	9
Impact of MEK Inhibitor Therapy on Neurocognitive Functioning in NF1	9
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy	9
Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene	8
Metabolic Malfunction Mars Muscle Mitochondria	8
Novel Neuroimaging Pattern in POLR3A -Related Disorder on 7T MRI	8
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation	8
Neurology ® Genetics Acknowledgment to Reviewers	8
FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual Disability	8
Familial Brain Calcifications With Leukoencephalopathy	8
LBSL	8
Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathies	8
Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3	8
Association of DMD Gene Variant Classes With Motor Outcomes in a Drug Registration Clinical Trial Setting	7
Quantitative Muscle MRI to Monitor Disease Progression in Hypokalemic Periodic Paralysis	7
Acknowledgment to Reviewers	7
Pathogenic NOTCH3 Variants Are Frequent Among the Korean General Population	7
Tau Pathology Associated With Parkinsonism and Mutation of Mitochondrial DNA Helicase Gene TWNK	7
Interactive Effects of HLA and GM Alleles on the Development of Alzheimer Disease	7

A Window Into the Myofibrillar Myopathy Proteome	7
Polygenic Risk Scores Augment Stroke Subtyping	7
A New Case With Cortical Malformation Caused by Biallelic Variants in LAMC3	7
Systemic Capillary Leak Syndrome With Cerebral Involvement in a C9orf72 Expansion Carrier	7
Proceedings of the 28th International Stroke Genetics Consortium Workshop	7
Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2 -Associated Infantile Epilepsy	7
Review of the Genetic Spectrum of Hereditary Spastic Paraplegias in the Middle East and North Africa Regions	7
Revealing the Timeline of Structural MRI Changes in Premanifest to Manifest Huntington Disease	6
Refractory Epilepsy in Adult Patient With COQ8A Variant Improves With CoQ10 Supplementation	6
Expanding the Clinical Spectrum of UBTF -Related Neurodevelopmental Disorder	6
Adult Neuropsychiatric Manifestation of Hartnup Disease With a Novel SLCA6A19 Variant	6
Miglustat Therapy for SCARB2 -Associated Action Myoclonus–Renal Failure Syndrome	6
Clinical Deep Phenotyping of ABCA7 Mutation Carriers	6
A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family	6
Novel Genetic Variant in HUWE1	6
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia	6
A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria	6
Progressive Apraxia of Speech as a Manifestation of Spinocerebellar Ataxia 2	6
Compound Heterozygous Variants of GOSR2 Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy	6
Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1 -Related Disorder	6
Adult Phenotype of CHD2 -Associated Disorders	6
Clinical and Genetic Analysis of Patients With TK2 Deficiency	6
White Matter Hyperintensities and Cerebral Microbleeds in Ataxia-Telangiectasia	5
Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region	5
Vanishing White Matter Disease Presenting as Dementia and Infertility	5
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy	5
Novel TOP3A Variant Associated With Mitochondrial Disease	5
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene	5
Neurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1	5
Friedreich Ataxia	5
Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort	5
Clonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic Spread	5
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia	5
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4	5
Genetic and Phenotypic Variability in Siblings With Friedreich Ataxia	5
Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network	5
The Dose Makes the Poison	4
Ten Years of Neurology ® Genetics	4
Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia	4
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy	4
Expanding the Allelic Heterogeneity of ANO10 -Associated Autosomal Recessive Cerebellar Ataxia	4
Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus Callosum	4
Clinical Characteristics of Patients With Becker Muscular Dystrophy Having Pathogenic Microvariants or Duplications	4
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain	4
Improvement of an External Predictive Model Based on New Information Using a Synthetic Data Approach	4
Global Perspectives on Returning Genetic Research Results in Parkinson Disease	4
CGG/CCG Repeat Expansions in LOC642361/NUTM2B-AS1 in Thai Patients With Oculopharyngodistal Myopathy	4
Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease	4
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder	4
Machine Learning Approach for the Prediction of Age-Specific Probability of SCA3 and DRPLA by Survival Curve Analysis	4
Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome	4
Longitudinal Analysis of Respiratory Function of Different Types of Limb Girdle Muscular Dystrophies Reveals Independent Trajectories	4
A Fast and Robust Strategy to Remove Variant-Level Artifacts in Alzheimer Disease Sequencing Project Data	4
Neonatal-Onset Opsoclonus-Myoclonus-Ataxia-Like Syndrome Caused by De Novo FRMD5 Variant Responsive to IV Steroid Pulse Therapy	4
Adaptive and Innate Immunity Are Key Drivers of Age at Onset of Multiple Sclerosis	4
Nemaline Myopathy Type 6 Caused by Variants in the KBTBD13 Gene	4
Examining the Performance of Polygenic Risk Scores for Alzheimer Disease Within and Across Populations Using k -Fold Cross-Validation	3
PURA- Related Developmental and Epileptic Encephalopathy	3
SLC29A3 Pathogenic Variants Resulting in Dural Based Fibroinflammatory Mass Lesions and H Syndrome Treated With Cobimetinib	3
Questioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral Sclerosis	3
Therapy Trial Design in Vanishing White Matter	3
Early Peripheral Nerve Involvement at the Time of Coughing in Patients With RFC1 Intronic Expansion	3
CSF MicroRNAs Reveal Impairment of Angiogenesis and Autophagy in Parkinson Disease	3
Neurodevelopmental Disorder, Obesity, Pancytopenia, Diabetes Mellitus, Cirrhosis, and Renal Failure in ACBD6 -Associated Syndrome	3
Large-Scale Whole-Genome Analysis of HTLV-1–Associated Myelopathy Identified Hereditary Spastic Paraplegias	3
SON -Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine	3
Disease Progression of GNE Myopathy and Its Relationship With Genotype	3
Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping	3
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants	3
Highly Elevated Prevalence of Spinobulbar Muscular Atrophy in Indigenous Communities in Canada Due to a Founder Effect	3
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	3
Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1	3
The Spectrum of Genetic Risk in Alzheimer Disease	3
Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1	3
Genetic Predisposition to Mosaic Chromosomal Loss Is Associated With Functional Outcome After Ischemic Stroke	3
Mild Malformation of Cortical Development With Oligodendroglial Hyperplasia and Epilepsy	3
Genetic Insights Into Hypothalamic Hamartoma	3
A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia	3
Shared Genetics of Migraine and Gastrointestinal Disorders Implicates Underlying Neurologic Mechanisms Yet Heterogeneous Etiologies	3
Amyotrophic Lateral Sclerosis Genetic Access Program	3

Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in the RTTN Gene	3
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency	3
Genome-wide Analysis of Motor Progression in Parkinson Disease	3
SMN1 Duplications Are Associated With Progressive Muscular Atrophy, but Not With Multifocal Motor Neuropathy and Primary Lateral Sclerosis	3
Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1	3
Complete Agenesis of Corpus Callosum in KCNQ2 -Related Neonatal Epileptic Encephalopathy	2
Disease Severity and Motor Impairment Correlate With Health-Related Quality of Life in AP-4-Associated Hereditary Spastic Paraplegia	2
Increased Serum Levels of miR-125b and miR-132 in Fragile X Syndrome	2
A 3′UTR Insertion Is a Candidate Causal Variant at the TMEM106B Locus Associated With Increased Risk for FTLD-TDP	2
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy	2
Clinical and Metabolic Signature of UNC13A rs12608932 Variant in Amyotrophic Lateral Sclerosis	2
Adult-Onset Spinal Muscular Atrophy due to Mutations in the VRK1 Gene	2
Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis	2
Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin	2
KCNQ2 Encephalopathy Manifesting With Rett-like Features	2
“Chocolate Chip Sign” on Susceptibility-Weighted Imaging	2
Adult Cerebellar Ataxia, Axonal Neuropathy, and Sensory Impairments Caused by Biallelic SCO2 Variants	2
SLC9A6 -Linked Parkinson Syndrome in Female Heterozygotes Is Associated With PET-Detectable Tau Pathology	2
Confirming Pathogenicity of the F386L PSEN1 Variant in a South Asian Family With Early-Onset Alzheimer Disease	2
Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy	2
Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant	2
APOE ε4 Allele Frequency Among Cognitively Healthy Members of an Ojibwe Tribal Nation	2
Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation	2
Neuropathology-Independent Association Between APOE Genotype and Cognitive Decline Rate in the Normal Aging-Early Alzheimer Continuum	2
Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness	2
Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy	2
Cerebral Aneurysms and Recurrent TIAs in a 42-Year-Old Patient With DADA2 Mutation	2
Immunotherapy Responsive Recurrent Post-Infectious Ataxia Associated With Recurrent ATP2B2 Gene Variant	2
New Mission, New Reviews, New Word Counts, Oh My!	2
Clinical Evidence for Variegated Silencing in Patients With Friedreich Ataxia	2
Race and Alzheimer Disease Biomarkers	2
Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies	2
Biallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy	2
TTN -Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant	2
TARDBP Mutations in Facial-Onset Sensory and Motor Neuronopathy	2
Phenotype of Patients With Charcot-Marie-Tooth With the p.His123Arg Mutation in GDAP1 in Northern Finland	2
Expanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide Expansions	2
Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing	2
High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete	2
Quantitative Muscle MRI to Monitor Disease Progression in Hypokalemic Periodic Paralysis	2
Mutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability	2
Acute Vestibular Syndrome Unmasking an RFC1 -Spectrum Disorder	2