OOIR: Observatory of International Research

Papers

(The median citation count of Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration is 1. 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 2022-01-01 to 2026-01-01.)

Article	Citations
Correction	52
Single task-level, 2SD-based cutoffs for the Italian version of the Edinburgh Cognitive and Behavioral ALS screen (ECAS)	39
Validity and reliability measures of the Swedish Karolinska version of the Edinburgh Cognitive and Behavioral ALS Screen (SK-ECAS)	35
Incorporating patient preferences and burden-of-disease in evaluating ALS drug candidate AMX0035: a Bayesian decision analysis perspective	30
Clinical and demographical characteristics in a cohort of MND patients treated with riluzole. Differences between tablets and oral suspension	29
Development, reliability, validity, and acceptability of the remote administration of the Edinburgh Cognitive and Behavioural ALS Screen (ECAS)	29
Rapid classification of a novel ALS-causing I149S variant in superoxide dismutase-1	25
The correlation between social support, coping style, advance care planning readiness, and quality of life in patients with amyotrophic lateral sclerosis: a cross-sectional study	24
The amyotrophic lateral sclerosis-health index (ALS-HI): development and evaluation of a novel outcome measure	23
Clinical epidemiology of amyotrophic lateral sclerosis in Liguria, Italy: a ten year follow up study	23
Incidence of amyotrophic lateral sclerosis before and during the COVID-19 pandemic: evidence from an 8-year population-based study in Central Italy based on healthcare utilization databases	22
Theme 5 Human Cell Biology and Pathology	21
Amyotrophic lateral sclerosis mortality rates in Latin America and the Caribbean: a meta-analysis	21
Impact of occupational categories on the incidence of amyotrophic lateral sclerosis in Sardinia Island, Italy	20
Patient engagement in research: lessons learned from CAPTURE ALS, a longitudinal observational ALS study	19
Epidemiology, clinical features, and management of amyotrophic lateral sclerosis in the neurology department of the Bogodogo University Hospital in Ouagadougou, Burkina Faso	19
Genetic ancestry and risk allele C9orf72 rs3849942 T for amyotrophic lateral sclerosis in Latin American populations	19
Peripheral immunity relate to disease progression and prognosis in amyotrophic lateral sclerosis	18
Theme 7 Pre-Clinical Therapeutic Strategies	18
Residential exposure associations with ALS risk, survival, and phenotype: a Michigan-based case-control study	16
Can resting lung function predict the response of a person living with motor neuron disease to a hypoxic challenge test?	15
Theme 11 - Cognitive and Psychological Assessment and Support	15
Portable fixed dynamometry enables home-based, reliable assessment of muscle strength in patients with amyotrophic lateral sclerosis: a pilot study	15
Genetic variation in targets of lipid-lowering drugs and amyotrophic lateral sclerosis risk: a Mendelian randomization study	14
Theme 10 - Disease Stratification and Phenotyping of Patients	14

Time from amyotrophic lateral sclerosis symptom onset to key disease milestones: analysis of data from a multinational cross-sectional survey	13
Self-assessment of amyotrophic lateral sclerosis functional rating scale on the patient’s smartphone proves to be non-inferior to clinic data capture	13
Assessing pulmonary function in ALS using electrical impedance tomography	13
Correction	13
Care burden and related factors among informal caregivers of patients with amyotrophic lateral sclerosis	13
The involvement of palliative care with neurology – a comparison of UK, Switzerland and Italy	12
Slowly progressive late-onset spinal muscular atrophy Finkel-type related to p.Pro56Ser VABP mutation in Colombia	12
Yield of EEG features as markers of disease severity in amyotrophic lateral sclerosis: a pilot study	12
Pridopidine treatment in ALS: subgroup analyses from the HEALEY ALS Platform trial	12
Automated speech analytics in ALS: higher sensitivity of digital articulatory precision over the ALSFRS-R	12
Amyotrophic lateral sclerosis: exploring pathophysiology in the context of treatment	12
The contralateral co-movement test in a Chinese population with amyotrophic lateral sclerosis	12
Feature selection using metaheuristics to predict annual amyotrophic lateral sclerosis progression	12
Supporting people with Motor Neuron Disease (MND) to make decisions about gastrostomy feeding tube placement: a survey of UK healthcare professionals’ practice and beliefs	11
Time-to-event prediction in ALS using a landmark modeling approach, using the ALS Natural History Consortium dataset	11
Platform Communications: Abstract Book – 33rd International Symposium on ALS/MND (Complete printable file)	11
Expanding the phenotype of TARDBP mutation in a Tunisian family with clinical phenotype heterogeneity	10
Exploring the needs and preferences of people with amyotrophic lateral sclerosis (ALS) when making genomic testing decisions: an interview study	10
Quality of life and care burden of people living with amyotrophic lateral sclerosis who need home-based medical care in Korea and their family caregivers	10
International network for ALS research and care (INARC)	10
Comparison Of King’s Clinical Staging In Multinational Amyotrophic Lateral Sclerosis Cohorts	10
Self-reported initiation apathy is related to worse quality of life in amyotrophic lateral sclerosis	9
Response letter to: a homozygous p.Val120Leu (c.358G > C) SOD1 mutation led to slowly progressive amyotrophic lateral sclerosis in a Brazilian family	9
Toward genetic counseling practice standards for diagnostic testing in amyotrophic lateral sclerosis and frontotemporal dementia	9
Exposure to electromagnetic fields does not modify neither the age of onset nor the disease progression in ALS patients	9
Increased total daily energy expenditure in mild to moderate ALS: greater contribution from physical activity energy expenditure than hyper-metabolism	8
Neuropsychological assessment practices in PRECISION-ALS: challenges and opportunities for harmonization	8
A novel TBK1 loss-of-function variant associated with ALS and parkinsonism phenotypes	8
Changes in saccadic intrusions over time as an objective biomarker to follow ALS disease progression	8
IMPACT-ALS: summary of results from a European survey of people living with ALS	8
Incidence of MND in Canterbury, New Zealand and impact of a key worker role on hospital admissions	8
The natural history of ALS: Baseline characteristics from a multicenter clinical cohort	8
Improving the measurement properties of the Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R): deriving a valid measurement total for the calculation of change	8
Respiratory measurements, respiratory symptoms, and quality of life in ALS: results from the REVEALS study	8
ALSUntangled #80: ISRIB (Integrated stress response InhiBitor)	8
A revision to the United States national ALS registry’s algorithm to improve Case-Ascertainment	8
PRECISION ALS—an integrated pan European patient data platform for ALS	8
Amyotrophic lateral sclerosis estimated prevalence cases from 2022 to 2030, data from the national ALS Registry	8
Impact of mode of training and recertification on ALSFRS-R rater performance	7
Why is nutrition vital for advancing ALS care and clinical research?	7
How the prospect of a clinical trial impacts decision-making for predictive genetic testing in ALS	7
Theme 03 - In Vitro Experimental Models	7
Body mass index is lower in asymptomatic C9orf72 expansion carriers but not in SOD1 pathogenic variant carriers compared to gene negatives	7
Cognition in the course of ALS—a meta-analysis	7
ALSUntangled #79: alpha-lipoic acid	7
Dextromethorphan/quinidine (DMQ) for reducing bulbar symptoms in amyotrophic lateral sclerosis – assessment of treatment experience in a multicenter study	7
Epidemiology and economic burden of amyotrophic lateral sclerosis in the United States: a literature review	7
A speech-based prognostic model for dysarthria progression in ALS	7
ALSUntangled # 69: astaxanthin	7
The diagnostic value of the Italian version of the Edinburgh Cognitive and Behavioral ALS Screen (ECAS)	6

Theme 12 - Clinical Management and Support	6
Amyotrophic lateral sclerosis in Colombia: a population-based study of incidence and socioeconomic determinants	6
Translation and validation of the Arabic version of the amyotrophic lateral sclerosis assessment questionnaire (ALSAQ40-AR)	6
The cholesterol depleting agent, (2-Hydroxypropyl)-ß-cyclodextrin, does not affect disease progression in SOD1 ^G93A mice	6
Demographic changes in a large motor neuron disease cohort in Portugal: a 27 year experience	6
Theme 10 Disease Stratification and Phenotyping of Patients	6
Theme 9 Clinical Trials and Trial Design	6
Longitudinal comparison of the self-administered ALSFRS-RSE and ALSFRS-R as functional outcome measures in ALS	6
Association of UNC13A with increased amyotrophic lateral sclerosis risk, bulbar onset, and lower motor neuron involvement in a Norwegian ALS cohort	6
Primary lateral sclerosis natural history study – planning, designing, and early enrollment	6
Apathy in amyotrophic lateral sclerosis: systematic review and meta-analysis of frequency, correlates, and outcomes	6
Letter to Editor	6
A de novo c.113 T > C: p.L38R mutation of SPTLC1: case report of a girl with sporadic juvenile amyotrophic lateral sclerosis	6
Quantitative susceptibility mapping for investigating brain iron deposits in amyotrophic lateral sclerosis: correlations with clinical phenotype and disease progression	6
Serum heat shock protein concentrations are not associated with amyotrophic lateral sclerosis risk or survival in three European populations	5
The Beaumont behavioral intervention in a Chinese amyotrophic lateral sclerosis cohort	5
SOD1 mutations in Taiwanese ALS patients: Clinical characteristics, frequency, and a p.T138R founder effect	5
A verb-naming test accurately detects cognitive changes in ALS	5
Theme 01 - Epidemiology and Informatics	5
Serum NfL, but not GFAP, differentiates primary lateral sclerosis from adrenomyeloneuropathy and hereditary spastic paraplegia type 4	5
Correction	5
Verbal expressive language minimally affected in non-demented people living with amyotrophic lateral sclerosis	5
HLA and amyotrophic lateral sclerosis: a systematic review and meta-analysis	5
Acceptability and potential benefit of a self-compassion intervention for people living with amyotrophic lateral sclerosis: a mixed methods pilot study	5
Theme 05 - Human Cell Biology and Pathology (including iPSC studies)	5
ALSUntangled #65: glucocorticoid corticosteroids	5
Theme 08 - Clinical Imaging and Electrophysiology	5
Frequency of C9orf72 and SOD1 mutations in 302 sporadic ALS patients from three German ALS centers	5
Relationship between quantitative strength and functional outcomes in the phase 2 FORTITUDE-ALS trial	5
Study of “ALS reversals”: LifeTime environmental exposures (StARLiTE)	5
Incidence of amyotrophic lateral sclerosis in the United States, 2014–2016	5
Theme 3 In Vitro Experimental Models	4
Current practices in the nutrition management of people with amyotrophic lateral sclerosis (ALS): a survey of U.S. ALS care teams	4
Harmonized standard operating procedures for administering the ALS functional rating scale-revised	4
Effects of COVID-19 on motor neuron disease mortality in the United States: a population-based cross-sectional study	4
Thoracic electrical impedance tomography for assessing progression of pulmonary dysfunction in ALS	4
Patients’ choices regarding ventilatory support affect opioid use in amyotrophic lateral sclerosis	4
ALSUntangled #71: Nuedexta	4
In memoriam Ettore Beghi, 1947–2022	4
Theme 02 - Genetics and Genomics	4
Prodromal symptoms in amyotrophic lateral sclerosis from the perspective of the patient and of the caregiver	4
Clinically meaningful change: evaluation of the Rasch-built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS) and the ALSFRS-R	4
Italian reference values and brain correlates of verbal fluency index – vs standard verbal fluency test – to assess executive dysfunction in ALS	4
Neutrophil-to-lymphocyte ratio at diagnosis as a biomarker for survival of amyotrophic lateral sclerosis	4
How effective does a new drug for Amyotrophic Lateral Sclerosis need to be – the patient perspective: a letter in response to “Estimating the minimum important difference in the ALSFRS-R-instrument in	4
Occupational lead exposure and amyotrophic lateral sclerosis survival in the Danish National Patient Registry	4
Mapping the natural history of amyotrophic lateral sclerosis: time-to-event analysis of clinical milestones in the pan-European, population-based PRECISION-ALS cohort	4
Clinical trajectories of genetic variants in ALS: a European observational study within PRECISION-ALS	4
Physical activity in amyotrophic lateral sclerosis: a systematic review of the methodologies used to assess a possible association	4
Neurofilament light chain dynamics in the pre-symptomatic phase of amyotrophic lateral sclerosis: a case report	4
Behavioral subtypes impact prognosis and survival in amyotrophic lateral sclerosis: a clustering-based approach	4
Characterization, epidemiology, and factors associated with evolution and survival in patients with amyotrophic lateral sclerosis in southeastern Spain, 2008–2021: a population-based study	4
Amyotrophic lateral sclerosis in Saudi Arabia: a multicenter descriptive study	4
Prevalence of depression in amyotrophic lateral sclerosis/motor neuron disease: multi-attribute ascertainment and trajectories over 30 months	4
Theme 2 Genetics and Genomics	3
Challenges and solutions to complex data governance issues in cross-national, cross-sectoral, multidisciplinary real world health research: a descriptive overview	3
Spanish adaptation of the Primary Lateral Sclerosis Functional Rating Scale (PLSFRS)	3
A geographical study on amyotrophic lateral sclerosis in Rio Grande Do Norte, Brazil, from 2005 to 2018	3
Platform Communications: Abstract Book – 34th International Symposium on ALS/MND (Complete printable file)	3
ECAS correlation with metabolic alterations on FDG-PET imaging in ALS	3
Serum small non-coding RNA define molecular subtypes in amyotrophic lateral sclerosis	3
Prevalence of amyotrophic lateral sclerosis in the United States, 2018	3
Perils of predictive testing for unaffected people from motor neuron disease families with no identified causal gene	3
Psychometric properties of the Russian version of the Edinburgh cognitive and behavioral amyotrophic lateral sclerosis screen	3
Multistep modeling applied to a Malaysian ALS registry	3
PROSA—a multicenter prospective observational study to develop low-burden digital speech biomarkers in ALS and FTD	3
Correction	3
A nurse coaching intervention to improve support to individuals living with ALS	3
Comparing Amyotrophic lateral sclerosis (ALS) patient characteristics from the National ALS Registry and the Massachusetts ALS Registry, data through 2015	3
Describing and characterising variability in ALS disease progression	3
Self-care mobile application for people with Amyotrophic Lateral Sclerosis: a development and usability test	3
Stigma experienced by ALS/PMA patients and their caregivers: a mixed-methods study	3
Neurologists’ understanding of reproductive medicine options for genetic forms of motor neuron disease	3
Research access barriers in amyotrophic lateral sclerosis	3
Prevalence of cognitive impairment in motor neuron diseases: alternative norming methods lead to considerably diverse estimates	3
Genetically predicted coffee consumption and amyotrophic lateral sclerosis	3
REVEALS—a longitudinal cohort study of multifaceted respiratory assessment in ALS	3
‘Outcomes of genetic testing in the London MND Center: the importance of achieving timely results and correlations to family history’	3
Specialized multidisciplinary care improves ALS survival in Belgium: a population-based retrospective study	3
A novel homozygous loss-of-function variant in SOD1 causing progressive spastic tetraplegia and axial hypotonia	3

Previous psychiatric disorders in the multistep hypothesis of amyotrophic lateral sclerosis: a South Korean population study	3
Percutaneous gastrostomy, mechanical ventilation and survival in amyotrophic lateral sclerosis: an observational study in an incident cohort	3
The quality of life and depression in primary caregivers of patients with amyotrophic lateral sclerosis is affected by patient-related and culture-specific conditions	3
Short tandem repeat expansions in LRP12 are absent in cohorts of familial and sporadic amyotrophic lateral sclerosis patients of European ancestry	2
A study of patient recall and comprehension of genetic testing results in amyotrophic lateral sclerosis (ALS)	2
Four families with slowly progressive ALS due to p.Val120Leu SOD1 variant in Northeast Brazil	2
Transcranial magnetic stimulation to monitor disease progression in ALS: a review	2
Prevalence and predictors of prolonged grief disorder, anxiety and depression in bereaved ALS family caregivers: a national survey of distress and support needs after bereavement	2
Combination of ciprofloxacin/celecoxib as a novel therapeutic strategy for ALS	2
SOD1 gene screening in ALS – frequency of mutations, patients’ attitudes to genetic information and transition to tofersen treatment in a multi-center program	2
Focal epilepsy followed by rapidly progressive frontotemporal dementia: a rare manifestation of VCP mutation	2
Cognitive reserve in ALS: the role of occupational skills and requirements	2
Determinants and progression of stigma in amyotrophic lateral sclerosis/motor neuron disease	2
Occupational lead exposure and survival with amyotrophic lateral sclerosis	2
Deciphering ALS-linked genetic variants in indian patients using targeted and exome sequencing approaches	2
Development of ‘gastrostomy tube – is it for me?’, a web-based patient decision aid for people living with motor neurone disease considering having a gastrostomy tube placed	2
Persistent high levels of perceived fatigue are not associated with hypermetabolism in patients with amyotrophic lateral sclerosis	2
Psychological resilience is protective against cognitive deterioration in motor neuron diseases	2
Theme 11 - Cognitive and Psychological Assessment and Support	2
A novel mutation in the ALS2 gene in an iranian kurdish family with juvenile amyotrophic lateral sclerosis	2
Analysis of incidence of motor neuron disease in England 1998–2019: use of three linked datasets	2
ALSUntangled #76: Wahls protocol	2
Refining items for a preference-based, amyotrophic lateral sclerosis specific, health-related quality of life scale	2
What is the extent of reliability and validity evidence for screening tools for cognitive and behavioral change in people with ALS? A systematic review	2
ALSUntangled #74: Withania Somnifera (Ashwagandha)	2
Incidence of amyotrophic lateral sclerosis in Chile	2
Platform Communications: Abstract Book 35th International Symposium on ALS/MND (Complete printable file)	2
Table of Contents - Poster Communications	2
ALSUntangled #78: Zinc	2
Theme 11 Cognitive and Psychological Assessment and Support	2
Amyotrophic lateral sclerosis caused by the C9orf72 expansion in Norway – prevalence, ancestry, clinical characteristics and sociodemographic status	2
Unraveling the contribution of executive functions to language impairment in ALS	2
ALSUntangled #75: Portable neuromodulation stimulator therapy	2
Theme 06 - Tissue Biomarkers	2
Remote digital assessment of amyotrophic lateral sclerosis functional rating scale – a multicenter observational study	2
An electronic health record cohort of Veterans with amyotrophic lateral sclerosis	2
Assessment of risk of ALS conferred by the GGGGCC hexanucleotide repeat expansion in C9orf72 among first-degree relatives of patients with ALS carrying the repeat expans	2
CAPTURE ALS: the comprehensive analysis platform to understand, remedy and eliminate ALS	2
Living with a parent with ALS - adolescents’ need for professional support from the adolescents’ and the parents’ perspectives	2
Natural history of the revised ALS functional rating scale and its association with survival: the PRECISION-ALS Extant Study	2
Cerebrospinal fluid levels of NfM in relation to NfL and pNfH as prognostic markers in amyotrophic lateral sclerosis	2
MRI biomarkers for memory-related impairment in amyotrophic lateral sclerosis: a systematic review	2
Profiles of disease progression and predictors of mortality in Colombian patients with amyotrophic lateral sclerosis: a comprehensive longitudinal study	2
Environmental risk factors for amyotrophic lateral sclerosis: a case–control study in Canada and France	2
A phase 2, proof-of-concept, placebo-controlled, randomized, multicenter, double-blind study to evaluate the efficacy, safety, tolerability, pharmacokinetics, and pharmacodynamics of Usnoflast (ZYIL1)	2
Reliable change indices for the cognitive section of Portuguese version of the Edinburgh Cognitive and Behavioural ALS screen (ECAS)	2
Racial disparities in ALS diagnostic delay: a single center’s experience and review of potential contributing factors	2
SOD1-ALS mimicking an inflammatory neuropathy: a case report	2
Rapid progression of amyotrophic lateral sclerosis after initiation of GLP-1 agonist: a case report	2
ALS due to a novel TBK1 mutation in Brazil	1
How the coronavirus pandemic affected the lives of people with ALS and their spouses in the UK from spouses’ perspectives: a qualitative study	1
Analysis of STMN2 CA repeats in italian ALS patients shows no association	1
Patient experience and clinical outcome assessment validity in amyotrophic lateral sclerosis: a targeted literature review	1
Participant, site personnel and sponsor perspectives on decentralized trial features in COURAGE-ALS: a randomized clinical trial	1
Subcortical grey matter involvement in ALS and PLS – vulnerable hubs of cortico-cortical and cortico-basal circuits: extrapyramidal, cognitive, bulbar and respiratory correlates	1
Measuring disability in amyotrophic lateral sclerosis/motor neuron disease: the WHODAS 2.0-36, WHODAS 2.0-32, and WHODAS 2.0-12	1
Theme 5 Human Cell Biology and Pathology	1
SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in SOD1 amyotrophic lateral sclerosis	1
Theme 10 Disease Stratification and Phenotyping of Patients	1
Plasma neurofilament light levels show elevation two years prior to diagnosis of amyotrophic lateral sclerosis in the UK Biobank	1
Theme 2 Genetics and Genomics	1
Rurality modifies the association between symptoms and the diagnosis of amyotrophic lateral sclerosis	1
Examining cognitive decline over time in Iranian ALS patients: Adapting successive versions B and C of the Edinburgh cognitive and behavioral screen to Persian	1
Geographical distribution of clinical trials in amyotrophic lateral sclerosis: a scoping review	1
Expanding the spectrum of KIF5A mutations—case report of a large kindred with familial ALS and overlapping syndrome	1
LAENALS: epidemiological and clinical features of amyotrophic lateral sclerosis in Latin America	1
Novel in-frame duplication variant of SOD1 in a Japanese family with familial amyotrophic lateral sclerosis	1
Predicting amyotrophic lateral sclerosis (ALS) progression with machine learning	1
Treatment continuity of amyotrophic lateral sclerosis with available riluzole formulations: state of the art and current challenges in a ‘real-world’ setting	1
Cross-cultural adaptation and psychometric evaluation of a Turkish version of the Amyotrophic Lateral Sclerosis-Specific Quality of Life-Short Form	1
Integrated analysis of transcriptomic and proteomic alterations in mouse models of ALS/FTD identify early metabolic adaptions with similarities to mitochondrial dysfunction disorders	1
Clinical phenotype of frontotemporal dementia associated with the Pro392Leu SQSTM1 mutation	1
Theme 1 Epidemiology and Informatics	1
A survey of current practice in genetic testing in amyotrophic lateral sclerosis in the UK and Republic of Ireland: implications for future planning	1
ALSUntangled #66: antimycobacterial antibiotics.	1
Lack of habituation in somatosensory cortex but not in visual cortex of ALS patients	1
Neurodegenerative biomarkers outperform neuroinflammatory biomarkers in amyotrophic lateral sclerosis	1
FUS mutations in Asian amyotrophic lateral sclerosis patients: a case report and literature review of genotype-phenotype correlations	1
Autophagy dysregulation plays a crucial role in regulatory T-cell loss and neuroinflammation in amyotrophic lateral sclerosis (ALS)	1
Genetic overlap between ALS and other neurodegenerative or neuromuscular disorders	1
Clinical factors and vascular endothelial growth factor as determinants of disease progression in Indian patients with amyotrophic lateral sclerosis	1
ALS due to c.1189 + 1G > T (splice donor) TBK1 mutation	1
Theme 08 - Clinical Imaging and Electrophysiology	1
How to break the news in amyotrophic lateral sclerosis/motor neuron disease: practical guidelines from experts	1
Association of the practice of contact sports with the development of amyotrophic lateral sclerosis	1
Prognosis of amyotrophic lateral sclerosis patients after tracheostomy invasive ventilation in Korea	1
Premorbid lipid levels and long-term risk of ALS—a population-based cohort study	1
Incidence of amyotrophic lateral sclerosis in Sardinia, Italy: age–sex interaction and spatial–temporal variability	1
Analysis of non-motor symptoms in amyotrophic lateral sclerosis	1
A novel DHTKD1 gene mutation with ALS like presentation: a case report	1
Theme 01 - Epidemiology and Informatics	1
Theme 8 Clinical Imaging and Electrophysiology	1
Blood glycated hemoglobin level is not associated with disease progression in amyotrophic lateral sclerosis	1
MAPT p.V363I mutation in a patient with presenile dementia and late amyotrophic lateral sclerosis	1
Neck flexion weakness predicts respiratory dysfunction in amyotrophic lateral sclerosis	1