OOIR: Observatory of International Research

Papers

(The TQCC of Neurology-Genetics is 7. 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 2020-11-01 to 2024-11-01.)

Article	Citations
The SPID-GBA study	43
Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy	38
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy	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
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants	26
RFC1 -Related Disease	26
PURA- Related Developmental and Epileptic Encephalopathy	25
Epilepsy Course and Developmental Trajectories in STXBP1 -DEE	24
Revealing the Timeline of Structural MRI Changes in Premanifest to Manifest Huntington Disease	23
Neuronal intranuclear inclusion disease presenting with an MELAS-like episode in chronic polyneuropathy	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
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
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
Therapy Trial Design in Vanishing White Matter	17
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2 -Related Neurodevelopmental Disorder	17
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
FLNC-Associated Myofibrillar Myopathy	16
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
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
Trigeminal Neuralgia TRPM8 Mutation	13
LAMA2 -Related Muscular Dystrophy Across the Life Span	13
Effect of Body Weight on Age at Onset in Huntington Disease	13
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
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene	12
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
Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1	11
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
MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor	10
Clinical Deep Phenotyping of ABCA7 Mutation Carriers	10
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
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
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
U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene	8
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder	8
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
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