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 2021-12-01 to 2025-12-01.)

Article	Citations
Correction	51
Single task-level, 2SD-based cutoffs for the Italian version of the Edinburgh Cognitive and Behavioral ALS screen (ECAS)	39
Incorporating patient preferences and burden-of-disease in evaluating ALS drug candidate AMX0035: a Bayesian decision analysis perspective	34
Clinical epidemiology of amyotrophic lateral sclerosis in Liguria, Italy: a ten year follow up study	30
Development, reliability, validity, and acceptability of the remote administration of the Edinburgh Cognitive and Behavioural ALS Screen (ECAS)	29
Clinical and demographical characteristics in a cohort of MND patients treated with riluzole. Differences between tablets and oral suspension	26
Rapid classification of a novel ALS-causing I149S variant in superoxide dismutase-1	24
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	23
The amyotrophic lateral sclerosis-health index (ALS-HI): development and evaluation of a novel outcome measure	23
Validity and reliability measures of the Swedish Karolinska version of the Edinburgh Cognitive and Behavioral ALS Screen (SK-ECAS)	22
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	21
Theme 5 Human Cell Biology and Pathology	21
Impact of occupational categories on the incidence of amyotrophic lateral sclerosis in Sardinia Island, Italy	20
Amyotrophic lateral sclerosis mortality rates in Latin America and the Caribbean: a meta-analysis	20
Genetic ancestry and risk allele C9orf72 rs3849942 T for amyotrophic lateral sclerosis in Latin American populations	19
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	18
Peripheral immunity relate to disease progression and prognosis in amyotrophic lateral sclerosis	18
Theme 7 Pre-Clinical Therapeutic Strategies	17
Residential exposure associations with ALS risk, survival, and phenotype: a Michigan-based case-control study	16
Assessing pulmonary function in ALS using electrical impedance tomography	15
Can resting lung function predict the response of a person living with motor neuron disease to a hypoxic challenge test?	15
Portable fixed dynamometry enables home-based, reliable assessment of muscle strength in patients with amyotrophic lateral sclerosis: a pilot study	14
Theme 10 - Disease Stratification and Phenotyping of Patients	13
Genetic variation in targets of lipid-lowering drugs and amyotrophic lateral sclerosis risk: a Mendelian randomization study	13

Theme 11 - Cognitive and Psychological Assessment and Support	13
Time from amyotrophic lateral sclerosis symptom onset to key disease milestones: analysis of data from a multinational cross-sectional survey	13
Yield of EEG features as markers of disease severity in amyotrophic lateral sclerosis: a pilot study	12
Automated speech analytics in ALS: higher sensitivity of digital articulatory precision over the ALSFRS-R	12
Feature selection using metaheuristics to predict annual amyotrophic lateral sclerosis progression	12
Correction	12
Self-assessment of amyotrophic lateral sclerosis functional rating scale on the patient’s smartphone proves to be non-inferior to clinic data capture	12
Slowly progressive late-onset spinal muscular atrophy Finkel-type related to p.Pro56Ser VABP mutation in Colombia	12
Care burden and related factors among informal caregivers of patients with amyotrophic lateral sclerosis	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
The involvement of palliative care with neurology – a comparison of UK, Switzerland and Italy	11
Drug treatments and interactions, disease progression and quality of life in ALS patients	11
Time-to-event prediction in ALS using a landmark modeling approach, using the ALS Natural History Consortium dataset	11
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
Platform Communications: Abstract Book – 33rd International Symposium on ALS/MND (Complete printable file)	10
Comparison Of King’s Clinical Staging In Multinational Amyotrophic Lateral Sclerosis Cohorts	10
The association of theory of mind with language and visuospatial abilities in amyotrophic lateral sclerosis: a pilot 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
Exploring the needs and preferences of people with amyotrophic lateral sclerosis (ALS) when making genomic testing decisions: an interview study	10
Response letter to: a homozygous p.Val120Leu (c.358G > C) SOD1 mutation led to slowly progressive amyotrophic lateral sclerosis in a Brazilian family	10
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	9
Toward genetic counseling practice standards for diagnostic testing in amyotrophic lateral sclerosis and frontotemporal dementia	9
International network for ALS research and care (INARC)	9
Exposure to electromagnetic fields does not modify neither the age of onset nor the disease progression in ALS patients	9
Expanding the phenotype of TARDBP mutation in a Tunisian family with clinical phenotype heterogeneity	9
A novel TBK1 loss-of-function variant associated with ALS and parkinsonism phenotypes	8
The natural history of ALS: Baseline characteristics from a multicenter clinical cohort	8
ALSUntangled #80: ISRIB (Integrated stress response InhiBitor)	8
Self-reported initiation apathy is related to worse quality of life in amyotrophic lateral sclerosis	8
A revision to the United States national ALS registry’s algorithm to improve Case-Ascertainment	8
Amyotrophic lateral sclerosis estimated prevalence cases from 2022 to 2030, data from the national ALS Registry	8
Increased total daily energy expenditure in mild to moderate ALS: greater contribution from physical activity energy expenditure than hyper-metabolism	8
PRECISION ALS—an integrated pan European patient data platform for ALS	8
Neuropsychological assessment practices in PRECISION-ALS: challenges and opportunities for harmonization	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
Impact of mode of training and recertification on ALSFRS-R rater performance	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
Cognition in the course of ALS—a meta-analysis	7
Respiratory measurements, respiratory symptoms, and quality of life in ALS: results from the REVEALS study	7
Neurofilament light chain as a biological marker for amyotrophic lateral sclerosis: a meta-analysis study	7
Why is nutrition vital for advancing ALS care and clinical research?	7
The cholesterol depleting agent, (2-Hydroxypropyl)-ß-cyclodextrin, does not affect disease progression in SOD1 ^G93A mice	7
Dextromethorphan/quinidine (DMQ) for reducing bulbar symptoms in amyotrophic lateral sclerosis – assessment of treatment experience in a multicenter study	7
Body mass index is lower in asymptomatic C9orf72 expansion carriers but not in SOD1 pathogenic variant carriers compared to gene negatives	7
Theme 03 - In Vitro Experimental Models	7
Urine specific gravity to identify and predict hydration need in ALS	7
Letter to Editor	6

Serum heat shock protein concentrations are not associated with amyotrophic lateral sclerosis risk or survival in three European populations	6
Apathy in amyotrophic lateral sclerosis: systematic review and meta-analysis of frequency, correlates, and outcomes	6
How the prospect of a clinical trial impacts decision-making for predictive genetic testing in ALS	6
The diagnostic value of the Italian version of the Edinburgh Cognitive and Behavioral ALS Screen (ECAS)	6
Primary lateral sclerosis natural history study – planning, designing, and early enrollment	6
Association of UNC13A with increased amyotrophic lateral sclerosis risk, bulbar onset, and lower motor neuron involvement in a Norwegian ALS cohort	6
ALSUntangled #79: alpha-lipoic acid	6
Quantitative susceptibility mapping for investigating brain iron deposits in amyotrophic lateral sclerosis: correlations with clinical phenotype and disease progression	6
Theme 10 Disease Stratification and Phenotyping of Patients	6
Theme 12 - Clinical Management and Support	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
ALSUntangled # 69: astaxanthin	6
Demographic changes in a large motor neuron disease cohort in Portugal: a 27 year experience	6
A verb-naming test accurately detects cognitive changes in ALS	5
HLA and amyotrophic lateral sclerosis: a systematic review and meta-analysis	5
Theme 05 - Human Cell Biology and Pathology (including iPSC studies)	5
Theme 9 Clinical Trials and Trial Design	5
Theme 08 - Clinical Imaging and Electrophysiology	5
Serum NfL, but not GFAP, differentiates primary lateral sclerosis from adrenomyeloneuropathy and hereditary spastic paraplegia type 4	5
Acceptability and potential benefit of a self-compassion intervention for people living with amyotrophic lateral sclerosis: a mixed methods pilot study	5
Relationship between quantitative strength and functional outcomes in the phase 2 FORTITUDE-ALS trial	5
Frequency of C9orf72 and SOD1 mutations in 302 sporadic ALS patients from three German ALS centers	5
ALSUntangled #65: glucocorticoid corticosteroids	5
The Beaumont behavioral intervention in a Chinese amyotrophic lateral sclerosis cohort	5
Study of “ALS reversals”: LifeTime environmental exposures (StARLiTE)	5
Incidence of amyotrophic lateral sclerosis in the United States, 2014–2016	5
Theme 01 - Epidemiology and Informatics	5
Longitudinal comparison of the self-administered ALSFRS-RSE and ALSFRS-R as functional outcome measures in ALS	5
Correction	5
Verbal expressive language minimally affected in non-demented people living with amyotrophic lateral sclerosis	5
Prevalence of depression in amyotrophic lateral sclerosis/motor neuron disease: multi-attribute ascertainment and trajectories over 30 months	4
Patients’ choices regarding ventilatory support affect opioid use in amyotrophic lateral sclerosis	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
Theme 02 - Genetics and Genomics	4
Clinically meaningful change: evaluation of the Rasch-built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS) and the ALSFRS-R	4
Theme 3 In Vitro Experimental Models	4
Italian reference values and brain correlates of verbal fluency index – vs standard verbal fluency test – to assess executive dysfunction in ALS	4
Occupational lead exposure and amyotrophic lateral sclerosis survival in the Danish National Patient Registry	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
Amyotrophic lateral sclerosis in Saudi Arabia: a multicenter descriptive study	4
Thoracic electrical impedance tomography for assessing progression of pulmonary dysfunction in ALS	4
Effects of COVID-19 on motor neuron disease mortality in the United States: a population-based cross-sectional study	4
Behavioral subtypes impact prognosis and survival in amyotrophic lateral sclerosis: a clustering-based approach	4
In memoriam Ettore Beghi, 1947–2022	4
ALSUntangled #71: Nuedexta	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
Neutrophil-to-lymphocyte ratio at diagnosis as a biomarker for survival of amyotrophic lateral sclerosis	4
Clinical trajectories of genetic variants in ALS: a European observational study within PRECISION-ALS	4
Harmonized standard operating procedures for administering the ALS functional rating scale-revised	4
Current practices in the nutrition management of people with amyotrophic lateral sclerosis (ALS): a survey of U.S. ALS care teams	4
PROSA—a multicenter prospective observational study to develop low-burden digital speech biomarkers in ALS and FTD	3
Perils of predictive testing for unaffected people from motor neuron disease families with no identified causal gene	3
Spanish adaptation of the Primary Lateral Sclerosis Functional Rating Scale (PLSFRS)	3
Psychometric properties of the Russian version of the Edinburgh cognitive and behavioral amyotrophic lateral sclerosis screen	3
Validation of the Italian version of the Rasch-Built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS) administered to patients and their caregivers	3
Challenges and solutions to complex data governance issues in cross-national, cross-sectoral, multidisciplinary real world health research: a descriptive overview	3
Neurofilament light chain dynamics in the pre-symptomatic phase of amyotrophic lateral sclerosis: a case report	3
A novel homozygous loss-of-function variant in SOD1 causing progressive spastic tetraplegia and axial hypotonia	3
Stigma experienced by ALS/PMA patients and their caregivers: a mixed-methods study	3
Specialized multidisciplinary care improves ALS survival in Belgium: a population-based retrospective study	3
Serum small non-coding RNA define molecular subtypes in amyotrophic lateral sclerosis	3
A nurse coaching intervention to improve support to individuals living with ALS	3
REVEALS—a longitudinal cohort study of multifaceted respiratory assessment in ALS	3
Neurologists’ understanding of reproductive medicine options for genetic forms of motor neuron disease	3
Prodromal symptoms in amyotrophic lateral sclerosis from the perspective of the patient and of the caregiver	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
Research access barriers in amyotrophic lateral sclerosis	3
Genetically predicted coffee consumption and amyotrophic lateral sclerosis	3
ECAS correlation with metabolic alterations on FDG-PET imaging in ALS	3
Rapid progression of amyotrophic lateral sclerosis after initiation of GLP-1 agonist: a case report	3
Platform Communications: Abstract Book – 34th International Symposium on ALS/MND (Complete printable file)	3
Prevalence of amyotrophic lateral sclerosis in the United States, 2018	3
Self-care mobile application for people with Amyotrophic Lateral Sclerosis: a development and usability test	3
Correction	3
Theme 2 Genetics and Genomics	3
Physical activity in amyotrophic lateral sclerosis: a systematic review of the methodologies used to assess a possible association	3
Multistep modeling applied to a Malaysian ALS registry	3
Prevalence of cognitive impairment in motor neuron diseases: alternative norming methods lead to considerably diverse estimates	3
Percutaneous gastrostomy, mechanical ventilation and survival in amyotrophic lateral sclerosis: an observational study in an incident cohort	3
A geographical study on amyotrophic lateral sclerosis in Rio Grande Do Norte, Brazil, from 2005 to 2018	3

‘Outcomes of genetic testing in the London MND Center: the importance of achieving timely results and correlations to family history’	3
Comparing Amyotrophic lateral sclerosis (ALS) patient characteristics from the National ALS Registry and the Massachusetts ALS Registry, data through 2015	3
Theme 11 - Cognitive and Psychological Assessment and Support	3
Previous psychiatric disorders in the multistep hypothesis of amyotrophic lateral sclerosis: a South Korean population study	3
CAPTURE ALS: the comprehensive analysis platform to understand, remedy and eliminate ALS	2
Theme 11 Cognitive and Psychological Assessment and Support	2
Deciphering ALS-linked genetic variants in indian patients using targeted and exome sequencing approaches	2
The neuroradiology of upper motor neuron degeneration: PLS, HSP, ALS	2
Profiles of disease progression and predictors of mortality in Colombian patients with amyotrophic lateral sclerosis: a comprehensive longitudinal study	2
Platform Communications: Abstract Book 35th International Symposium on ALS/MND (Complete printable file)	2
Short tandem repeat expansions in LRP12 are absent in cohorts of familial and sporadic amyotrophic lateral sclerosis patients of European ancestry	2
Remote digital assessment of amyotrophic lateral sclerosis functional rating scale – a multicenter observational study	2
Occupational lead exposure and survival with amyotrophic lateral sclerosis	2
SOD1-ALS mimicking an inflammatory neuropathy: a case report	2
Reliable change indices for the cognitive section of Portuguese version of the Edinburgh Cognitive and Behavioural ALS screen (ECAS)	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
Environmental risk factors for amyotrophic lateral sclerosis: a case–control study in Canada and France	2
Persistent high levels of perceived fatigue are not associated with hypermetabolism in patients with amyotrophic lateral sclerosis	2
Refining items for a preference-based, amyotrophic lateral sclerosis specific, health-related quality of life scale	2
Racial disparities in ALS diagnostic delay: a single center’s experience and review of potential contributing factors	2
Determinants and progression of stigma in amyotrophic lateral sclerosis/motor neuron disease	2
Combination of ciprofloxacin/celecoxib as a novel therapeutic strategy for ALS	2
Table of Contents - Poster Communications	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
Psychological resilience is protective against cognitive deterioration in motor neuron diseases	2
A novel mutation in the ALS2 gene in an iranian kurdish family with juvenile amyotrophic lateral sclerosis	2
Amyotrophic lateral sclerosis caused by the C9orf72 expansion in Norway – prevalence, ancestry, clinical characteristics and sociodemographic status	2
Describing and characterising variability in ALS disease progression	2
Cognitive reserve in ALS: the role of occupational skills and requirements	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
Natural history of the revised ALS functional rating scale and its association with survival: the PRECISION-ALS Extant Study	2
A study of patient recall and comprehension of genetic testing results in amyotrophic lateral sclerosis (ALS)	2
Incidence of amyotrophic lateral sclerosis in Chile	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
Living with a parent with ALS - adolescents’ need for professional support from the adolescents’ and the parents’ perspectives	2
Cerebrospinal fluid levels of NfM in relation to NfL and pNfH as prognostic markers in amyotrophic lateral sclerosis	2
ALSUntangled #75: Portable neuromodulation stimulator therapy	2
MRI biomarkers for memory-related impairment in amyotrophic lateral sclerosis: a systematic review	2
Theme 06 - Tissue Biomarkers	2
An electronic health record cohort of Veterans with amyotrophic lateral sclerosis	2
Transcranial magnetic stimulation to monitor disease progression in ALS: a review	2
Unraveling the contribution of executive functions to language impairment in ALS	2
ALSUntangled #78: Zinc	2
Analysis of incidence of motor neuron disease in England 1998–2019: use of three linked datasets	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
Clinical phenotype of frontotemporal dementia associated with the Pro392Leu SQSTM1 mutation	1
Blood glycated hemoglobin level is not associated with disease progression in amyotrophic lateral sclerosis	1
ALSUntangled #76: Wahls protocol	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
SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in SOD1 amyotrophic lateral sclerosis	1
Treatment continuity of amyotrophic lateral sclerosis with available riluzole formulations: state of the art and current challenges in a ‘real-world’ setting	1
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	1
Focal epilepsy followed by rapidly progressive frontotemporal dementia: a rare manifestation of VCP mutation	1
Analysis of STMN2 CA repeats in italian ALS patients shows no association	1
Theme 07 - Pre-Clinical Therapeutic Strategies	1
Neck flexion weakness predicts respiratory dysfunction in amyotrophic lateral sclerosis	1
ALS due to a novel TBK1 mutation in Brazil	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
Incidence of amyotrophic lateral sclerosis in Sardinia, Italy: age–sex interaction and spatial–temporal variability	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
Expanding the spectrum of KIF5A mutations—case report of a large kindred with familial ALS and overlapping syndrome	1
Theme 5 Human Cell Biology and Pathology	1
Participant, site personnel and sponsor perspectives on decentralized trial features in COURAGE-ALS: a randomized clinical trial	1
FUS mutations in Asian amyotrophic lateral sclerosis patients: a case report and literature review of genotype-phenotype correlations	1
ALSUntangled #66: antimycobacterial antibiotics.	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
Plasma neurofilament light levels show elevation two years prior to diagnosis of amyotrophic lateral sclerosis in the UK Biobank	1
Theme 1 Epidemiology and Informatics	1
ALSUntangled #74: Withania Somnifera (Ashwagandha)	1
Rurality modifies the association between symptoms and the diagnosis of amyotrophic lateral sclerosis	1
Predicting amyotrophic lateral sclerosis (ALS) progression with machine learning	1
The incidence and prevalence of motor neurone disease in South Australia	1
Geographical distribution of clinical trials in amyotrophic lateral sclerosis: a scoping review	1
Prognosis of amyotrophic lateral sclerosis patients after tracheostomy invasive ventilation in Korea	1
LAENALS: epidemiological and clinical features of amyotrophic lateral sclerosis in Latin America	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
Analysis of non-motor symptoms in amyotrophic lateral sclerosis	1
How to break the news in amyotrophic lateral sclerosis/motor neuron disease: practical guidelines from experts	1
Theme 08 - Clinical Imaging and Electrophysiology	1
A novel DHTKD1 gene mutation with ALS like presentation: a case report	1
ALS due to c.1189 + 1G > T (splice donor) TBK1 mutation	1
Theme 01 - Epidemiology and Informatics	1
Association of the practice of contact sports with the development of amyotrophic lateral sclerosis	1
Theme 8 Clinical Imaging and Electrophysiology	1
Premorbid lipid levels and long-term risk of ALS—a population-based cohort study	1
Lack of habituation in somatosensory cortex but not in visual cortex of ALS patients	1
Theme 10 Disease Stratification and Phenotyping of Patients	1
Theme 2 Genetics and Genomics	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
Cross-cultural adaptation and psychometric evaluation of a Turkish version of the Amyotrophic Lateral Sclerosis-Specific Quality of Life-Short Form	1
Clinical factors and vascular endothelial growth factor as determinants of disease progression in Indian patients with amyotrophic lateral sclerosis	1
Neurodegenerative biomarkers outperform neuroinflammatory biomarkers in 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