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 2020-05-01 to 2024-05-01.)

Article	Citations
Late-onset vs nonmendelian early-onset Alzheimer disease	84
Prevalence of RFC1 -mediated spinocerebellar ataxia in a North American ataxia cohort	42
The SPID-GBA study	38
Genetic risk for Alzheimer disease predicts hippocampal volume through the human lifespan	35
Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy	33
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy	33
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy	30
African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants	29
Neurologic outcomes in Friedreich ataxia	27
Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue	27
Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation	27
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?	26
Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes	25
Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy	25
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	23
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants	23
APOE ϵ 4 modifies the relationship between infectious burden and poor cognition	22
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited	22
WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase	21
Revealing the Timeline of Structural MRI Changes in Premanifest to Manifest Huntington Disease	21
Neuronal intranuclear inclusion disease presenting with an MELAS-like episode in chronic polyneuropathy	21
D-DEMØ, a distinct phenotype caused by ATP1A3 mutations	20
Progressive Myoclonus Epilepsies	20
SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia	20
Expanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide Expansions	19

Integrative Network-Based Analysis Reveals Gene Networks and Novel Drug Repositioning Candidates for Alzheimer Disease	19
PURA- Related Developmental and Epileptic Encephalopathy	19
RFC1 -Related Disease	19
Expanding the phenotypic and molecular spectrum of RNA polymerase III–related leukodystrophy	19
Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication	18
Novel TUBA4A Variant Associated With Familial Frontotemporal Dementia	18
Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing	18
Polygenic Risk Scores Augment Stroke Subtyping	18
Polygenic risk scores of several subtypes of epilepsies in a founder population	17
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2 -Related Neurodevelopmental Disorder	16
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
Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1	15
Impact of MEK Inhibitor Therapy on Neurocognitive Functioning in NF1	15
Therapy Trial Design in Vanishing White Matter	15
Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era	15
Progress in Amyotrophic Lateral Sclerosis Gene Discovery	15
FLNC-Associated Myofibrillar Myopathy	14
Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease	14
Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy	14
Disease duration in autosomal dominant familial Alzheimer disease	14
Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency	14
Expanding Clinical Spectrum of C9ORF72 -Related Disorders and Promising Therapeutic Strategies	13
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries	13
A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome	13
Rapid progressive ALS in a patient with a DNAJC7 loss-of-function mutation	13
Association of blood-based transcriptional risk scores with biomarkers for Alzheimer disease	13
ALS in Finland	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
CSF MicroRNAs Reveal Impairment of Angiogenesis and Autophagy in Parkinson Disease	12
LBSL	11
C9orf72 and the Care of the Patient With ALS or FTD	11
Integrative analysis identifies the association between CASZ1 methylation and ischemic stroke	11
Novel dominant MPAN family with a complex genetic architecture as a basis for phenotypic variability	11
New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra	11
Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis	10
Trigeminal Neuralgia TRPM8 Mutation	10
Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia	10
Primary mitochondrial myopathy	10
V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations	10
Synonymous variants associated with Alzheimer disease in multiplex families	10
Can Anti–β-amyloid Monoclonal Antibodies Work in Autosomal Dominant Alzheimer Disease?	10
Effect of Body Weight on Age at Onset in Huntington Disease	9
MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor	9
Amyotrophic Lateral Sclerosis Genetic Access Program	9
COX deficiency and leukoencephalopathy due to a novel homozygous APOPT1/COA8 mutation	9
Disease-modifying effects of an SCAF4 structural variant in a predominantly SOD1 ALS cohort	9
Matrix metalloproteinase-degraded type I collagen is associated with APOE/TOMM40 variants and preclinical dementia	9

Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly	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
Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1	9
Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 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
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4	9
SLC1A3 variant associated with hemiplegic migraine and acetazolamide-responsive MRS changes	9
Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia	8
Genetic Evidence for Protective Effects of Angiotensin-Converting Enzyme Against Alzheimer Disease But Not Other Neurodegenerative Diseases in European Populations	8
Genetic Influences on Hippocampal Subfields	8
Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis	8
Frequency and Phenotype Associations of Rare Variants in 5 Monogenic Cerebral Small Vessel Disease Genes in 200,000 UK Biobank Participants	8
EIF2AK2 -related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease	8
Manifesting carriers of X-linked myotubular myopathy	8
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder	8
Cumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based Cohort	8
Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia	8