Neurology-Genetics

Article	Citations
The SPID-GBA study	43
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy	38
Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy	38
African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants	36
Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes	30
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?	27
RFC1 -Related Disease	26
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants	26
PURA- Related Developmental and Epileptic Encephalopathy	25
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	24
Neuronal intranuclear inclusion disease presenting with an MELAS-like episode in chronic polyneuropathy	23
Revealing the Timeline of Structural MRI Changes in Premanifest to Manifest Huntington Disease	23
Progressive Myoclonus Epilepsies	22
Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease	21
WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase	21
Novel TUBA4A Variant Associated With Familial Frontotemporal Dementia	21
Integrative Network-Based Analysis Reveals Gene Networks and Novel Drug Repositioning Candidates for Alzheimer Disease	21
Expanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide Expansions	20
Progress in Amyotrophic Lateral Sclerosis Gene Discovery	20
Polygenic Risk Scores Augment Stroke Subtyping	19
Expanding Clinical Spectrum of C9ORF72 -Related Disorders and Promising Therapeutic Strategies	18
Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication	18
Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing	18
Migraine, Stroke, and Cervical Arterial Dissection	18
Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era	18

Impact of MEK Inhibitor Therapy on Neurocognitive Functioning in NF1	18
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2 -Related Neurodevelopmental Disorder	17
Therapy Trial Design in Vanishing White Matter	17
FLNC-Associated Myofibrillar Myopathy	16
Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy	16
Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia	16
Frequency of GAA- FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia	14
Association of blood-based transcriptional risk scores with biomarkers for Alzheimer disease	14
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries	14
Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin	14
ALS in Finland	14
CSF MicroRNAs Reveal Impairment of Angiogenesis and Autophagy in Parkinson Disease	14
Effect of Body Weight on Age at Onset in Huntington Disease	13
Trigeminal Neuralgia TRPM8 Mutation	13
LAMA2 -Related Muscular Dystrophy Across the Life Span	13
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene	12
Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis	12
V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations	12
Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome	12
LBSL	12
Genetic Evidence for Protective Effects of Angiotensin-Converting Enzyme Against Alzheimer Disease But Not Other Neurodegenerative Diseases in European Populations	12
Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1	11
Genetic Influences on Hippocampal Subfields	11
Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis	11
Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly	11
Can Anti–β-amyloid Monoclonal Antibodies Work in Autosomal Dominant Alzheimer Disease?	11
New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra	11
C9orf72 and the Care of the Patient With ALS or FTD	11
Primary mitochondrial myopathy	11
Amyotrophic Lateral Sclerosis Genetic Access Program	11
MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor	10
Clinical Deep Phenotyping of ABCA7 Mutation Carriers	10
Case of Neuronal Intranuclear Inclusion Disease With Dynamic Perfusion Changes Lacking Typical Signs on Diffusion-Weighted Imaging	10
Distinguishing Loss-of-Function and Gain-of-Function SCN8A Variants Using a Random Forest Classification Model Trained on Clinical Features	10
Genome Sequencing in the Parkinson Disease Clinic	10
Homozygous SOD1 Variation L144S Produces a Severe Form of Amyotrophic Lateral Sclerosis in an Iranian Family	9
Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness	9
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4	9
EIF2AK2 -related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease	9
Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia	9
NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism	9
Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia	9
Cumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based Cohort	9
Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies	9
Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2 -Associated Infantile Epilepsy	9
Frequency and Phenotype Associations of Rare Variants in 5 Monogenic Cerebral Small Vessel Disease Genes in 200,000 UK Biobank Participants	9
U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene	8
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder	8
Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7	8
Effect of the RNF213 p.R4810K Variant on the Progression of Intracranial Artery Stenosis	8

Chromosomal Microarray Analysis in Pregnancies With Corpus Callosum or Posterior Fossa Anomalies	8
Clinical Evidence for Variegated Silencing in Patients With Friedreich Ataxia	8
Relationships of APOE Genotypes With Small RNA and Protein Cargo of Brain Tissue Extracellular Vesicles From Patients With Late-Stage AD	8
Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy	7
Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo	7
Mutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability	7
Ketogenic diet reduces Lafora bodies in murine Lafora disease	7
Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy	7
PRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in Women	7
Novel Variations in the KDM5C Gene Causing X-Linked Intellectual Disability	7
New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes	7
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain	7
Body Mass Index and Height in the Friedreich Ataxia Clinical Outcome Measures Study	7
Diagnosis of Shashi-Pena Syndrome Caused by Chromosomal Rearrangement Using Nanopore Sequencing	7
Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing	7
Pathogenic NOTCH3 Variants Are Frequent Among the Korean General Population	7
Integrating Genetic Structural Variations and Whole-Genome Sequencing Into Clinical Neurology	6
A Remote Longitudinal Observational Study of Individuals at Genetic Risk for Parkinson Disease	6
Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy	6
Congenital immobility and stiffness related to biallelic ATAD1 variants	6
Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease	6
Ataxia and Parkinsonism in a Woman With a VCP Variant and Long-Normal Repeats in the SCA2 Allele	6
Overview of the Clinical Approach to Individuals With Cerebellar Ataxia and Neuropathy	6
Highly Elevated Prevalence of Spinobulbar Muscular Atrophy in Indigenous Communities in Canada Due to a Founder Effect	6
Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping	6
Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia	6
Migrating Focal Seizures and Myoclonic Status in ARV1- Related Encephalopathy	6
Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders	6
Race and Alzheimer Disease Biomarkers	6
Novel TOP3A Variant Associated With Mitochondrial Disease	6
Association of HLA-DQA2 and HLA-B With Moyamoya Disease in the Chinese Han Population	6
Herpes simplex virus 2 encephalitis in a patient heterozygous for a TLR3 mutation	5
Heterozygous variants in DCC	5
Neuropathology-Independent Association Between APOE Genotype and Cognitive Decline Rate in the Normal Aging-Early Alzheimer Continuum	5
Disease Severity and Motor Impairment Correlate With Health-Related Quality of Life in AP-4-Associated Hereditary Spastic Paraplegia	5
Cerebellar Ataxia and Peripheral Neuropathy in a Family With PNPLA8 -Associated Disease	5
Ataxia-Pancytopenia Syndrome due to a de Novo SAMD9L Mutation	5
Toward the Definition of Patient-Reported Outcome Measurements in Hereditary Spastic Paraplegia	5
Progressive Ataxia and Neurologic Regression in RFXANK -Associated Bare Lymphocyte Syndrome	5
Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1	5
Clinical and Metabolic Signature of UNC13A rs12608932 Variant in Amyotrophic Lateral Sclerosis	5
A Fast and Robust Strategy to Remove Variant-Level Artifacts in Alzheimer Disease Sequencing Project Data	5
Complex 4q35 and 10q26 Rearrangements	5
Pathogenic DNM1 Gene Variant Presenting With Unusually Nonsevere Neurodevelopmental Phenotype: A Case Report	5
Cross-sectional Observations on the Natural History of Mucolipidosis Type IV	5
Clinical Manifestation of Nebulin-Associated Nemaline Myopathy	5
Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations	5
Adult-Onset Spinal Muscular Atrophy due to Mutations in the VRK1 Gene	5
Miglustat Therapy for SCARB2 -Associated Action Myoclonus–Renal Failure Syndrome	5
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation	5
Novel Mutation of the TGF-β 3 Protein (Loeys-Dietz Type 5) Associated With Aortic and Carotid Dissections	5
Novel Cysteine-Sparing Hypomorphic NOTCH3 A1604T Mutation Observed in a Family With Migraine and White Matter Lesions	4
Familial Lipomas Without Classic Neurofibromatosis-1 Caused by a Missense Germline NF1 Mutation	4
Biotinidase deficiency	4
Neurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1	4
DNA Methylation of the Natriuretic Peptide System Genes and Ischemic Stroke	4
Occurrence of Amyotrophic Lateral Sclerosis in Type 1 Gaucher Disease	4
Filamin A Variant as a Possible Second-Hit Gene Promoting Moyamoya Disease–like Vascular Formation Associated With RNF213 p.R4810K Variant	4
Dysfunctional Homozygous VRK1-D263G Variant Impairs the Assembly of Cajal Bodies and DNA Damage Response in Hereditary Spastic Paraplegia	4
Phenotype of Patients With Charcot-Marie-Tooth With the p.His123Arg Mutation in GDAP1 in Northern Finland	4
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy	4
Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features	4
Possible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral Sclerosis	4
Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology	4
mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development	4
DMPK mRNA Expression in Human Brain Tissue Throughout the Lifespan	4
Machine Learning Approach for the Prediction of Age-Specific Probability of SCA3 and DRPLA by Survival Curve Analysis	4
POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy	4
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia	3
Erythromelalgia: A Child With V400M Mutation in the SCN9A Gene	3
Phenotypic Spectrum of DNM2 -Related Centronuclear Myopathy	3
Identification of Sex-Specific Genetic Variants Associated With Tau PET	3
Genetic and Functional Analysis of Glycosyltransferase 8 Domain–Containing Protein 1 in Taiwanese Patients With Amyotrophic Lateral Sclerosis	3
A 3.9-Mb Deletion on 2p11.2 Comprising the REEP1 Gene Causes Early-Onset Atypical Parkinsonism	3
Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy	3
Novel SLC9A6 Variation in Female Carriers With Intellectual Disability and Atypical Parkinsonism	3
Novel Pathogenic Sequence Variation m.5789T>C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial Genome	3
Genetic Predisposition to Mosaic Chromosomal Loss Is Associated With Functional Outcome After Ischemic Stroke	3
Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort	3
White Matter Hyperintensities and Cerebral Microbleeds in Ataxia-Telangiectasia	3

Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant	3
Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices	3
Recessive COL4A2 Mutation Leads to Intellectual Disability, Epilepsy, and Spastic Cerebral Palsy	3
Neurofibromatosis-1 Gene Mutational Profiles Differ Between Syndromic Disease and Sporadic Cancers	3
Does SCA45 Cause Very Late-Onset Pure Cerebellar Ataxia?	3
Case of Autosomal Dominant Alzheimer Disease With Negative Findings From PiB-PET Examination	3
Transcriptome and Genome Analysis Uncovers a DMD Structural Variant	3
High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete	3
Interactive Effects of HLA and GM Alleles on the Development of Alzheimer Disease	3
Paroxysmal Ataxia	3
Heterozygous HTRA1 Mutations Cause Cerebral Small Vessel Diseases	3
CircPDS5B Reduction Improves Angiogenesis Following Ischemic Stroke by Regulating MicroRNA-223-3p/NOTCH2 Axis	3
Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss	3
Genetic Testing for Malformations of Cortical Development	3
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy	3
CWH43 Variants Are Associated With Disease Risk and Clinical Phenotypic Measures in Patients With Normal Pressure Hydrocephalus	3
Paroxysmal Kinesigenic Dyskinesia in Twins With Chromosome 16p11.2 Duplication Syndrome	3
Genome-wide Analysis of Motor Progression in Parkinson Disease	3
Vanishing White Matter Disease Presenting as Dementia and Infertility	2
FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual Disability	2
Somatic Variants in SVIL in Cerebral Aneurysms	2
Cerebrospinal fluid abnormalities in developmental and epileptic encephalopathy with a de novo CDK19 variant	2
Review of Phenotypic Heterogeneity of Neuronal Intranuclear Inclusion Disease and NOTCH2NLC -Related GGC Repeat Expansion Disorders	2
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency	2
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A	2
Adult-Onset Ataxia With Neuropathy and White Matter Abnormalities Due to a Novel SAMD9L Variant	2
Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2	2
Adult-Onset Sandhoff Disease in a Filipino Patient: Asymmetric Weakness, Whole HEXB Gene Deletion, and Coexisting MYH7 Pathogenic Variant	2
Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation	2
Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region	2
The Dose Makes the Poison	2
Familial Brain Calcifications With Leukoencephalopathy	2
Role of Rho-Associated Kinase in the Pathophysiology of Cerebral Cavernous Malformations	2
Severe Epilepsy and Movement Disorder May Be Early Symptoms of TMEM106B -Related Hypomyelinating Leukodystrophy	2
Alanyl-tRNA Synthetase 1 Gene Variants in Hereditary Neuropathy	2
Startle Disease	2
RFC1 Repeat Distribution in the Cypriot Population	2
A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation	2
Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia	2
Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant	2
Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1	2
Longitudinal Analysis of Respiratory Function of Different Types of Limb Girdle Muscular Dystrophies Reveals Independent Trajectories	2
Clonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic Spread	2
Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene	2
The First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to Nonsynonymous POLR3B Mutations	2
IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia	2
Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations	2
Clinicoradiologic Criteria for the Diagnosis of Stroke-like Episodes in MELAS	2
New-Onset Refractory Status Epilepticus Due to a Novel MT-TF Variant	2
On Spinocerebellar Ataxia 21 as a Mimicker of Cerebral Palsy	2
High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease	2
Estimated Familial Amyotrophic Lateral Sclerosis Proportion	2
SON -Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine	2
A New Case With Cortical Malformation Caused by Biallelic Variants in LAMC3	2