Neurology-Genetics

Article	Citations
Late-onset vs nonmendelian early-onset Alzheimer disease	82
Prevalence of RFC1 -mediated spinocerebellar ataxia in a North American ataxia cohort	40
The SPID-GBA study	36
Mitochondrial diseases in North America	35
ALS in Danish Registries	33
Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders	31
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy	30
Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy	29
Genetic risk for Alzheimer disease predicts hippocampal volume through the human lifespan	29
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy	28
African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants	27
Neurologic outcomes in Friedreich ataxia	27
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?	26
Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue	25
Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes	24
Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy	24
Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation	24
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	23
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants	22
Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34	21
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited	21
APOE ϵ 4 modifies the relationship between infectious burden and poor cognition	21
Progressive Myoclonus Epilepsies	20
Revealing the Timeline of Structural MRI Changes in Premanifest to Manifest Huntington Disease	20
SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia	20

WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase	20
Neuronal intranuclear inclusion disease presenting with an MELAS-like episode in chronic polyneuropathy	20
Expanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide Expansions	19
Expanding the phenotypic and molecular spectrum of RNA polymerase III–related leukodystrophy	19
D-DEMØ, a distinct phenotype caused by ATP1A3 mutations	18
Novel TUBA4A Variant Associated With Familial Frontotemporal Dementia	18
Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication	17
Polygenic Risk Scores Augment Stroke Subtyping	17
Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing	17
Integrative Network-Based Analysis Reveals Gene Networks and Novel Drug Repositioning Candidates for Alzheimer Disease	17
Polygenic risk scores of several subtypes of epilepsies in a founder population	16
Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation	16
RFC1 -Related Disease	16
Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia	15
Progress in Amyotrophic Lateral Sclerosis Gene Discovery	15
Molecular diagnosis of muscular diseases in outpatient clinics	15
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2 -Related Neurodevelopmental Disorder	15
Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1	14
Impact of MEK Inhibitor Therapy on Neurocognitive Functioning in NF1	14
FLNC-Associated Myofibrillar Myopathy	14
Heterozygous STUB1 missense variants cause ataxia, cognitive decline, and STUB1 mislocalization	14
Migraine, Stroke, and Cervical Arterial Dissection	14
Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy	14
PURA- Related Developmental and Epileptic Encephalopathy	14
Rapid progressive ALS in a patient with a DNAJC7 loss-of-function mutation	13
Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency	13
Disease duration in autosomal dominant familial Alzheimer disease	13
Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era	13
A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome	13
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries	13
Expanding Clinical Spectrum of C9ORF72 -Related Disorders and Promising Therapeutic Strategies	13
MYORG -related disease is associated with central pontine calcifications and atypical parkinsonism	13
CSF MicroRNAs Reveal Impairment of Angiogenesis and Autophagy in Parkinson Disease	12
Therapy Trial Design in Vanishing White Matter	12
Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease	12
Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin	12
ALS in Finland	11
Integrative analysis identifies the association between CASZ1 methylation and ischemic stroke	11
C9orf72 and the Care of the Patient With ALS or FTD	11
Association of blood-based transcriptional risk scores with biomarkers for Alzheimer disease	11
Use of local genetic ancestry to assess TOMM40 -523′ and risk for Alzheimer disease	11
LBSL	11
Can Anti–β-amyloid Monoclonal Antibodies Work in Autosomal Dominant Alzheimer Disease?	10
Trigeminal Neuralgia TRPM8 Mutation	10
V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations	10
Primary mitochondrial myopathy	10
Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis	10
Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutation	9
Association of a structural variant within the SQSTM1 gene with amyotrophic lateral sclerosis	9
Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy	9

Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutation	9
New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra	9
SLC1A3 variant associated with hemiplegic migraine and acetazolamide-responsive MRS changes	9
MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor	9
Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1	9
Amyotrophic Lateral Sclerosis Genetic Access Program	9
Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease	9
Hereditary cerebral amyloid angiopathy, Piedmont-type mutation	9
Case of Neuronal Intranuclear Inclusion Disease With Dynamic Perfusion Changes Lacking Typical Signs on Diffusion-Weighted Imaging	9
Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly	9
Synonymous variants associated with Alzheimer disease in multiplex families	9
Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia	9
Novel dominant MPAN family with a complex genetic architecture as a basis for phenotypic variability	9
Disease-modifying effects of an SCAF4 structural variant in a predominantly SOD1 ALS cohort	9
Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis	8
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder	8
EIF2AK2 -related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease	8
Genetic Influences on Hippocampal Subfields	8
Frequency and Phenotype Associations of Rare Variants in 5 Monogenic Cerebral Small Vessel Disease Genes in 200,000 UK Biobank Participants	8
Gerstmann-Sträussler-Scheinker disease ( PRNP p.D202N) presenting with atypical parkinsonism	8
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4	8
NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism	7
Ketogenic diet reduces Lafora bodies in murine Lafora disease	7
Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1	7
Cumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based Cohort	7
Genetic Evidence for Protective Effects of Angiotensin-Converting Enzyme Against Alzheimer Disease But Not Other Neurodegenerative Diseases in European Populations	7
Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia	7
Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness	7
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene	7
COX deficiency and leukoencephalopathy due to a novel homozygous APOPT1/COA8 mutation	7
Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7	7
Expanded genetic insight and clinical experience of DNMT1-complex disorder	7
Genome Sequencing in the Parkinson Disease Clinic	7
Genetic risk scores and hallucinations in patients with Parkinson disease	7
Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2 -Associated Infantile Epilepsy	7
Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia	7
Effect of Body Weight on Age at Onset in Huntington Disease	7
Manifesting carriers of X-linked myotubular myopathy	7
Mutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability	7
Heritability of cervical spinal cord structure	6
Migrating Focal Seizures and Myoclonic Status in ARV1- Related Encephalopathy	6
Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing	6
Diagnosis of Shashi-Pena Syndrome Caused by Chromosomal Rearrangement Using Nanopore Sequencing	6
Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease	6
Genetic background of ataxia in children younger than 5 years in Finland	6
Matrix metalloproteinase-degraded type I collagen is associated with APOE/TOMM40 variants and preclinical dementia	6
4H leukodystrophy	6
Clinical Evidence for Variegated Silencing in Patients With Friedreich Ataxia	6
New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes	6
Frequency of GAA- FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia	6
Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy	6
Homozygous SOD1 Variation L144S Produces a Severe Form of Amyotrophic Lateral Sclerosis in an Iranian Family	6
Genotyping single nucleotide polymorphisms for allele-selective therapy in Huntington disease	6
Race and Alzheimer Disease Biomarkers	6
Intronic pentanucleotide expansion in the replication factor 1 gene ( RFC1 ) is a major cause of adult-onset ataxia	6
Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome	5
Congenital immobility and stiffness related to biallelic ATAD1 variants	5
Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations	5
Herpes simplex virus 2 encephalitis in a patient heterozygous for a TLR3 mutation	5
Novel truncating mutations of MYO18B causing congenital myopathy in a Swiss patient	5
Biallelic LINE insertion mutation in HACD1 causing congenital myopathy	5
Clinical and Metabolic Signature of UNC13A rs12608932 Variant in Amyotrophic Lateral Sclerosis	5
Pathogenic NOTCH3 Variants Are Frequent Among the Korean General Population	5
LAMA2 -Related Muscular Dystrophy Across the Life Span	5
Ataxia-Pancytopenia Syndrome due to a de Novo SAMD9L Mutation	5
Novel Mutation of the TGF-β 3 Protein (Loeys-Dietz Type 5) Associated With Aortic and Carotid Dissections	5
U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene	5
Novel Variations in the KDM5C Gene Causing X-Linked Intellectual Disability	5
GLUT1 deficiency	5
Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy	5
Neuraxial dysraphism in EPAS1- associated syndrome due to improper mesenchymal transition	5
Relationships of APOE Genotypes With Small RNA and Protein Cargo of Brain Tissue Extracellular Vesicles From Patients With Late-Stage AD	5
PRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in Women	5
Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders	5
Effect of the RNF213 p.R4810K Variant on the Progression of Intracranial Artery Stenosis	5
Highly Elevated Prevalence of Spinobulbar Muscular Atrophy in Indigenous Communities in Canada Due to a Founder Effect	5
Clinical Manifestation of Nebulin-Associated Nemaline Myopathy	4
Phenotype of Patients With Charcot-Marie-Tooth With the p.His123Arg Mutation in GDAP1 in Northern Finland	4
Clinical Deep Phenotyping of ABCA7 Mutation Carriers	4
Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features	4

A Remote Longitudinal Observational Study of Individuals at Genetic Risk for Parkinson Disease	4
Distinguishing Loss-of-Function and Gain-of-Function SCN8A Variants Using a Random Forest Classification Model Trained on Clinical Features	4
POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy	4
Pathogenic DNM1 Gene Variant Presenting With Unusually Nonsevere Neurodevelopmental Phenotype: A Case Report	4
Progressive Ataxia and Neurologic Regression in RFXANK -Associated Bare Lymphocyte Syndrome	4
Heterozygous variants in DCC	4
Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations	4
Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene	4
Expanding the phenotype of MTOR -related disorders and the Smith-Kingsmore syndrome	4
Genetic testing utilization for patients with neurologic disease and the limitations of claims data	4
Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia	4
Possible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral Sclerosis	4
Overview of the Clinical Approach to Individuals With Cerebellar Ataxia and Neuropathy	4
Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo	4
Adult-Onset Spinal Muscular Atrophy due to Mutations in the VRK1 Gene	4
A Fast and Robust Strategy to Remove Variant-Level Artifacts in Alzheimer Disease Sequencing Project Data	4
Neurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1	4
Integrating Genetic Structural Variations and Whole-Genome Sequencing Into Clinical Neurology	4
Association of HLA-DQA2 and HLA-B With Moyamoya Disease in the Chinese Han Population	4
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation	4
Ataxia and Parkinsonism in a Woman With a VCP Variant and Long-Normal Repeats in the SCA2 Allele	4
Chromosomal Microarray Analysis in Pregnancies With Corpus Callosum or Posterior Fossa Anomalies	4
Adult-onset leukoencephalopathy with homozygous LAMB1 missense mutation	4
Neuropathology-Independent Association Between APOE Genotype and Cognitive Decline Rate in the Normal Aging-Early Alzheimer Continuum	3
Homoplasmic mitochondrial tRNA Pro mutation causing exercise-induced muscle swelling and fatigue	3
Complex 4q35 and 10q26 Rearrangements	3
Three-dimensional imaging in myotonic dystrophy type 1	3
Occurrence of Amyotrophic Lateral Sclerosis in Type 1 Gaucher Disease	3
Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy	3
Toward the Definition of Patient-Reported Outcome Measurements in Hereditary Spastic Paraplegia	3
Recessive COL4A2 Mutation Leads to Intellectual Disability, Epilepsy, and Spastic Cerebral Palsy	3
Novel Pathogenic Sequence Variation m.5789T>C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial Genome	3
Brainstem ischemic syndrome in juvenile NF2	3
Novel TOP3A Variant Associated With Mitochondrial Disease	3
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia	3
DNA Methylation of the Natriuretic Peptide System Genes and Ischemic Stroke	3
Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices	3
KCNQ2 encephalopathy manifesting with Rett-like features	3
A 3.9-Mb Deletion on 2p11.2 Comprising the REEP1 Gene Causes Early-Onset Atypical Parkinsonism	3
Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy	3
Familial Lipomas Without Classic Neurofibromatosis-1 Caused by a Missense Germline NF1 Mutation	3
Genome-wide Analysis of Motor Progression in Parkinson Disease	3
Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies	3
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain	3
Miglustat Therapy for SCARB2 -Associated Action Myoclonus–Renal Failure Syndrome	3
Phenotypic Spectrum of DNM2 -Related Centronuclear Myopathy	3
Body Mass Index and Height in the Friedreich Ataxia Clinical Outcome Measures Study	3
Novel Cysteine-Sparing Hypomorphic NOTCH3 A1604T Mutation Observed in a Family With Migraine and White Matter Lesions	3
Neurofibromatosis-1 Gene Mutational Profiles Differ Between Syndromic Disease and Sporadic Cancers	3
Genetic Testing for Malformations of Cortical Development	3
Does SCA45 Cause Very Late-Onset Pure Cerebellar Ataxia?	3
Biotinidase deficiency	3