OOIR: Observatory of International Research

Papers

(The TQCC of Neurology-Genetics is 8. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2020-04-01 to 2024-04-01.)

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	38
Mitochondrial diseases in North America	36
ALS in Danish Registries	33
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy	33
Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy	32
Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders	32
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy	30
Genetic risk for Alzheimer disease predicts hippocampal volume through the human lifespan	29
African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants	28
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	26
Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation	25
Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy	24
Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes	24
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	23
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited	22
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants	22
Neuronal intranuclear inclusion disease presenting with an MELAS-like episode in chronic polyneuropathy	21
Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34	21
APOE ϵ 4 modifies the relationship between infectious burden and poor cognition	21
WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase	21
SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia	20

Revealing the Timeline of Structural MRI Changes in Premanifest to Manifest Huntington Disease	20
Progressive Myoclonus Epilepsies	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
Novel TUBA4A Variant Associated With Familial Frontotemporal Dementia	18
D-DEMØ, a distinct phenotype caused by ATP1A3 mutations	18
RFC1 -Related Disease	18
Integrative Network-Based Analysis Reveals Gene Networks and Novel Drug Repositioning Candidates for Alzheimer Disease	18
Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication	17
Polygenic risk scores of several subtypes of epilepsies in a founder population	17
Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing	17
Polygenic Risk Scores Augment Stroke Subtyping	17
Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation	16
Migraine, Stroke, and Cervical Arterial Dissection	16
Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia	16
Molecular diagnosis of muscular diseases in outpatient clinics	16
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2 -Related Neurodevelopmental Disorder	16
Progress in Amyotrophic Lateral Sclerosis Gene Discovery	15
Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1	15
PURA- Related Developmental and Epileptic Encephalopathy	15
Heterozygous STUB1 missense variants cause ataxia, cognitive decline, and STUB1 mislocalization	15
Impact of MEK Inhibitor Therapy on Neurocognitive Functioning in NF1	14
FLNC-Associated Myofibrillar Myopathy	14
Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy	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
Clinical Features and Classification of Neuronal Intranuclear Inclusion 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
MYORG -related disease is associated with central pontine calcifications and atypical parkinsonism	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
Therapy Trial Design in Vanishing White Matter	13
Disease duration in autosomal dominant familial Alzheimer disease	13
CSF MicroRNAs Reveal Impairment of Angiogenesis and Autophagy in Parkinson Disease	12
Association of blood-based transcriptional risk scores with biomarkers for Alzheimer disease	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
LBSL	11
C9orf72 and the Care of the Patient With ALS or FTD	11
Novel dominant MPAN family with a complex genetic architecture as a basis for phenotypic variability	11
Use of local genetic ancestry to assess TOMM40 -523′ and risk for Alzheimer disease	11
Integrative analysis identifies the association between CASZ1 methylation and ischemic stroke	11
Synonymous variants associated with Alzheimer disease in multiplex families	10
Can Anti–β-amyloid Monoclonal Antibodies Work in Autosomal Dominant Alzheimer Disease?	10
Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis	10
Trigeminal Neuralgia TRPM8 Mutation	10
V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations	10
Primary mitochondrial myopathy	10

New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra	10
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
Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1	9
COX deficiency and leukoencephalopathy due to a novel homozygous APOPT1/COA8 mutation	9
Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia	9
SLC1A3 variant associated with hemiplegic migraine and acetazolamide-responsive MRS changes	9
Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutation	9
MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor	9
Amyotrophic Lateral Sclerosis Genetic Access Program	9
Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutation	9
Disease-modifying effects of an SCAF4 structural variant in a predominantly SOD1 ALS cohort	9
Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1	9
Association of a structural variant within the SQSTM1 gene with amyotrophic lateral sclerosis	9
Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly	9
Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy	9
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4	9
Gerstmann-Sträussler-Scheinker disease ( PRNP p.D202N) presenting with atypical parkinsonism	8
Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis	8
Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia	8
Effect of Body Weight on Age at Onset in Huntington Disease	8
Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia	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