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 2021-05-01 to 2025-05-01.)

Article	Citations
Rapid classification of a novel ALS-causing I149S variant in superoxide dismutase-1	41
Low plasma hyaluronan is associated with faster functional decline in patients with amyotrophic lateral sclerosis	31
The amyotrophic lateral sclerosis-health index (ALS-HI): development and evaluation of a novel outcome measure	30
Clinical and demographical characteristics in a cohort of MND patients treated with riluzole. Differences between tablets and oral suspension	29
Expanding the clinical and genetic spectrum of SQSTM1-related disorders in family with personality disorder and frontotemporal dementia	28
Correction	22
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	21
Clinical epidemiology of amyotrophic lateral sclerosis in Liguria, Italy: a ten year follow up study	19
Validity and reliability measures of the Swedish Karolinska version of the Edinburgh Cognitive and Behavioral ALS Screen (SK-ECAS)	19
Incorporating patient preferences and burden-of-disease in evaluating ALS drug candidate AMX0035: a Bayesian decision analysis perspective	18
Development, reliability, validity, and acceptability of the remote administration of the Edinburgh Cognitive and Behavioural ALS Screen (ECAS)	17
Genetic ancestry and risk allele C9orf72 rs3849942 T for amyotrophic lateral sclerosis in Latin American populations	17
Impact of occupational categories on the incidence of amyotrophic lateral sclerosis in Sardinia Island, Italy	17
Residential exposure associations with ALS risk, survival, and phenotype: a Michigan-based case-control study	17
Single task-level, 2SD-based cutoffs for the Italian version of the Edinburgh Cognitive and Behavioral ALS screen (ECAS)	17
Amyotrophic lateral sclerosis mortality rates in Latin America and the Caribbean: a meta-analysis	17
Geographical clusters of amyotrophic lateral sclerosis and the Bradford Hill criteria	16
Peripheral immunity relate to disease progression and prognosis in amyotrophic lateral sclerosis	15
Theme 5 Human Cell Biology and Pathology	15
Patient engagement in research: lessons learned from CAPTURE ALS, a longitudinal observational ALS study	15
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	14
Correction	14
Theme 11 - Cognitive and Psychological Assessment and Support	14
Yield of EEG features as markers of disease severity in amyotrophic lateral sclerosis: a pilot study	13
Can resting lung function predict the response of a person living with motor neuron disease to a hypoxic challenge test?	13

Assessing pulmonary function in ALS using electrical impedance tomography	13
Time from amyotrophic lateral sclerosis symptom onset to key disease milestones: analysis of data from a multinational cross-sectional survey	12
Amyotrophic lateral sclerosis: exploring pathophysiology in the context of treatment	12
Use of a new ALS specific respiratory questionnaire: the ARES score	11
Care burden and related factors among informal caregivers of patients with amyotrophic lateral sclerosis	11
Genetic variation in targets of lipid-lowering drugs and amyotrophic lateral sclerosis risk: a Mendelian randomization study	11
Self-assessment of amyotrophic lateral sclerosis functional rating scale on the patient’s smartphone proves to be non-inferior to clinic data capture	11
Theme 10 - Disease Stratification and Phenotyping of Patients	11
Portable fixed dynamometry enables home-based, reliable assessment of muscle strength in patients with amyotrophic lateral sclerosis: a pilot study	11
ALS patients with concurrent neuroinflammatory disorders; a nationwide clinical records study	11
The involvement of palliative care with neurology – a comparison of UK, Switzerland and Italy	11
Slowly progressive late-onset spinal muscular atrophy Finkel-type related to p.Pro56Ser VABP mutation in Colombia	10
Automated speech analytics in ALS: higher sensitivity of digital articulatory precision over the ALSFRS-R	10
Comparison Of King’s Clinical Staging In Multinational Amyotrophic Lateral Sclerosis Cohorts	10
Drug treatments and interactions, disease progression and quality of life in ALS patients	10
A case of juvenile-onset amyotrophic lateral sclerosis with a de novo frameshift FUS gene mutation presenting with bilateral abducens palsy	10
The contralateral co-movement test in a Chinese population with amyotrophic lateral sclerosis	10
PRECISION ALS—an integrated pan European patient data platform for ALS	10
Theme 03 - IN VITRO EXPERIMENTAL MODELS	10
Supporting people with Motor Neuron Disease (MND) to make decisions about gastrostomy feeding tube placement: a survey of UK healthcare professionals’ practice and beliefs	10
Time-to-event prediction in ALS using a landmark modeling approach, using the ALS Natural History Consortium dataset	10
A revision to the United States national ALS registry’s algorithm to improve Case-Ascertainment	9
Exposure to electromagnetic fields does not modify neither the age of onset nor the disease progression in ALS patients	9
Platform Communications: Abstract Book – 33rd International Symposium on ALS/MND (Complete printable file)	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	9
Response letter to: a homozygous p.Val120Leu (c.358G > C) SOD1 mutation led to slowly progressive amyotrophic lateral sclerosis in a Brazilian family	8
International network for ALS research and care (INARC)	8
The natural history of ALS: Baseline characteristics from a multicenter clinical cohort	8
Exploring the needs and preferences of people with amyotrophic lateral sclerosis (ALS) when making genomic testing decisions: an interview study	8
The association of theory of mind with language and visuospatial abilities in amyotrophic lateral sclerosis: a pilot study	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
Amyotrophic lateral sclerosis estimated prevalence cases from 2022 to 2030, data from the national ALS Registry	8
Inosine supplements only reach the CNS in molybdenum deficient humans and may cause astrocyte degeneration and bulbar–respiratory disease	8
Toward genetic counseling practice standards for diagnostic testing in amyotrophic lateral sclerosis and frontotemporal dementia	8
Monocyte CD14 and HLA-DR expression increases with disease duration and severity in amyotrophic lateral sclerosis	8
Neurofilament light chain as a biological marker for amyotrophic lateral sclerosis: a meta-analysis study	7
Percutaneous gastrostomy in amyotrophic lateral sclerosis: a review	7
Respiratory measurements, respiratory symptoms, and quality of life in ALS: results from the REVEALS study	7
Impact of mode of training and recertification on ALSFRS-R rater performance	7
IMPACT-ALS: summary of results from a European survey of people living with ALS	7
Body mass index is lower in asymptomatic C9orf72 expansion carriers but not in SOD1 pathogenic variant carriers compared to gene negatives	6
Increased total daily energy expenditure in mild to moderate ALS: greater contribution from physical activity energy expenditure than hyper-metabolism	6
Cognition in the course of ALS—a meta-analysis	6
Changes in saccadic intrusions over time as an objective biomarker to follow ALS disease progression	6
Demographic changes in a large motor neuron disease cohort in Portugal: a 27 year experience	6
Why is nutrition vital for advancing ALS care and clinical research?	6
Epidemiology and economic burden of amyotrophic lateral sclerosis in the United States: a literature review	6
Theme 03 - In Vitro Experimental Models	6
Urine specific gravity to identify and predict hydration need in ALS	5

How the prospect of a clinical trial impacts decision-making for predictive genetic testing in ALS	5
Letter to Editor	5
Longitudinal comparison of the self-administered ALSFRS-RSE and ALSFRS-R as functional outcome measures in ALS	5
A de novo c.113 T > C: p.L38R mutation of SPTLC1: case report of a girl with sporadic juvenile amyotrophic lateral sclerosis	5
The diagnostic value of the Italian version of the Edinburgh Cognitive and Behavioral ALS Screen (ECAS)	5
The cholesterol depleting agent, (2-Hydroxypropyl)-ß-cyclodextrin, does not affect disease progression in SOD1 ^G93A mice	5
Theme 05 - HUMAN CELL BIOLOGY AND PATHOLOGY (including iPSC studies)	5
Association of UNC13A with increased amyotrophic lateral sclerosis risk, bulbar onset, and lower motor neuron involvement in a Norwegian ALS cohort	5
Serum heat shock protein concentrations are not associated with amyotrophic lateral sclerosis risk or survival in three European populations	5
Theme 12 - Clinical Management and Support	5
Primary lateral sclerosis natural history study – planning, designing, and early enrollment	5
A speech-based prognostic model for dysarthria progression in ALS	5
Apathy in amyotrophic lateral sclerosis: systematic review and meta-analysis of frequency, correlates, and outcomes	5
ALSUntangled #65: glucocorticoid corticosteroids	5
MiNDAUS partnership: a roadmap for the cure and management of motor Neurone disease	5
ALSUntangled # 69: astaxanthin	5
Theme 08 - Clinical Imaging and Electrophysiology	4
Acceptability and potential benefit of a self-compassion intervention for people living with amyotrophic lateral sclerosis: a mixed methods pilot study	4
Correction	4
The Beaumont behavioral intervention in a Chinese amyotrophic lateral sclerosis cohort	4
Relationship between quantitative strength and functional outcomes in the phase 2 FORTITUDE-ALS trial	4
ALSUntangled #61: melatonin	4
Current practices in the nutrition management of people with amyotrophic lateral sclerosis (ALS): a survey of U.S. ALS care teams	4
In memoriam Ettore Beghi, 1947–2022	4
Prevalence of depression in amyotrophic lateral sclerosis/motor neuron disease: multi-attribute ascertainment and trajectories over 30 months	4
Arterial blood gas analysis: base excess and carbonate are predictive of noninvasive ventilation adaptation and survival in amyotrophic lateral sclerosis	4
Medical therapies for amyotrophic lateral sclerosis-related respiratory decline: an appraisal of needs, opportunities and obstacles	4
Frequency of C9orf72 and SOD1 mutations in 302 sporadic ALS patients from three German ALS centers	4
Verbal expressive language minimally affected in non-demented people living with amyotrophic lateral sclerosis	4
A verb-naming test accurately detects cognitive changes in ALS	4
Theme 01 - Epidemiology and Informatics	4
Theme 05 - Human Cell Biology and Pathology (including iPSC studies)	4
Theme 02 - Genetics and Genomics	4
Harmonized standard operating procedures for administering the ALS functional rating scale-revised	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
Study of “ALS reversals”: LifeTime environmental exposures (StARLiTE)	4
Incidence of amyotrophic lateral sclerosis in the United States, 2014–2016	4
HLA and amyotrophic lateral sclerosis: a systematic review and meta-analysis	4
Theme 10 - DISEASE STRATIFICATION AND PHENOTYPING OF PATIENTS	4
The expanding clinical and genetic spectrum of alsin-related disorders: the first cohort of Brazilian patients	4
Patients’ choices regarding ventilatory support affect opioid use in amyotrophic lateral sclerosis	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
Occupational lead exposure and amyotrophic lateral sclerosis survival in the Danish National Patient Registry	4
ALSUntangled #71: Nuedexta	4
Prevalence of cognitive impairment in motor neuron diseases: alternative norming methods lead to considerably diverse estimates	3
Motor neuron disease beginning with frontotemporal dementia: clinical features and progression	3
Theme 06 - TISSUE BIOMARKERS	3
Neutrophil-to-lymphocyte ratio at diagnosis as a biomarker for survival of amyotrophic lateral sclerosis	3
Theme 08 - CLINICAL IMAGING AND ELECTROPHYSIOLOGY	3
Perils of predictive testing for unaffected people from motor neuron disease families with no identified causal gene	3
Stigma experienced by ALS/PMA patients and their caregivers: a mixed-methods study	3
A geographical study on amyotrophic lateral sclerosis in Rio Grande Do Norte, Brazil, from 2005 to 2018	3
Single breath counting is an effective screening tool for forced vital capacity in ALS	3
Validation of the Italian version of the Rasch-Built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS) administered to patients and their caregivers	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
Genetically predicted coffee consumption and amyotrophic lateral sclerosis	3
Effects of COVID-19 on motor neuron disease mortality in the United States: a population-based cross-sectional study	3
Challenges and solutions to complex data governance issues in cross-national, cross-sectoral, multidisciplinary real world health research: a descriptive overview	3
REVEALS—a longitudinal cohort study of multifaceted respiratory assessment in ALS	3
PROSA—a multicenter prospective observational study to develop low-burden digital speech biomarkers in ALS and FTD	3
Specialized multidisciplinary care improves ALS survival in Belgium: a population-based retrospective study	3
Correction	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
Platform Communications: Abstract Book - 32nd International Symposium on ALS/MND (Complete printable file)	3
Thoracic electrical impedance tomography for assessing progression of pulmonary dysfunction in ALS	3
Psychometric properties of the Russian version of the Edinburgh cognitive and behavioral amyotrophic lateral sclerosis screen	3
ALS incidence and population aging in Northern Italy	3
A nurse coaching intervention to improve support to individuals living with ALS	3
Previous psychiatric disorders in the multistep hypothesis of amyotrophic lateral sclerosis: a South Korean population study	3
ECAS correlation with metabolic alterations on FDG-PET imaging in ALS	3
The relationship between ventilatory function and cognitive and behavioral impairment in ALS	2
Can amyotrophic lateral sclerosis progression really pause? A cohort study using the medical research council scale	2
Rapid progression of amyotrophic lateral sclerosis after initiation of GLP-1 agonist: a case report	2
Theme 04 - IN VIVO EXPERIMETAL MODELS	2
Short tandem repeat expansions in LRP12 are absent in cohorts of familial and sporadic amyotrophic lateral sclerosis patients of European ancestry	2
A novel homozygous loss-of-function variant in SOD1 causing progressive spastic tetraplegia and axial hypotonia	2
An electronic health record cohort of Veterans with amyotrophic lateral sclerosis	2
Remote digital assessment of amyotrophic lateral sclerosis functional rating scale – a multicenter observational study	2

Racial disparities in ALS diagnostic delay: a single center’s experience and review of potential contributing factors	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
ALSUntangled #75: Portable neuromodulation stimulator therapy	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
A novel mutation in the ALS2 gene in an iranian kurdish family with juvenile amyotrophic lateral sclerosis	2
SOD1-ALS mimicking an inflammatory neuropathy: a case report	2
Theme 11 - Cognitive and Psychological Assessment and Support	2
Comparing Amyotrophic lateral sclerosis (ALS) patient characteristics from the National ALS Registry and the Massachusetts ALS Registry, data through 2015	2
Describing and characterising variability in ALS disease progression	2
Percutaneous gastrostomy, mechanical ventilation and survival in amyotrophic lateral sclerosis: an observational study in an incident cohort	2
Platform Communications: Abstract Book – 34th International Symposium on ALS/MND (Complete printable file)	2
Mortality among family members of patients with amyotrophic lateral sclerosis – a Swedish register-based study	2
Persistent high levels of perceived fatigue are not associated with hypermetabolism in patients with amyotrophic lateral sclerosis	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
Analysis of incidence of motor neuron disease in England 1998–2019: use of three linked datasets	2
Psychological resilience is protective against cognitive deterioration in motor neuron diseases	2
Factors associated with Noninvasive ventilation compliance in patients with ALS/MND	2
Genetic and epigenetic disease modifiers in an Italian C9orf72 family expressing ALS, FTD or PD clinical phenotypes	2
‘Outcomes of genetic testing in the London MND Center: the importance of achieving timely results and correlations to family history’	2
Prevalence of amyotrophic lateral sclerosis in the United States, 2018	2
Neurologists’ understanding of reproductive medicine options for genetic forms of motor neuron disease	2
Theme 06 - Tissue Biomarkers	2
Occupational lead exposure and survival with amyotrophic lateral sclerosis	2
Determinants and progression of stigma in amyotrophic lateral sclerosis/motor neuron disease	2
Table of Contents - Poster Communications	2
Cardiac troponin T is elevated and increases longitudinally in ALS patients	2
ALS due to c.1189 + 1G > T (splice donor) TBK1 mutation	1
Incidence of amyotrophic lateral sclerosis in Chile	1
Caregivers’ divergent perspectives on patients’ well-being and attitudes towards hastened death in Germany, Poland and Sweden	1
How to break the news in amyotrophic lateral sclerosis/motor neuron disease: practical guidelines from experts	1
CAPTURE ALS: the comprehensive analysis platform to understand, remedy and eliminate ALS	1
Theme 12 - CLINICAL MANAGEMENT, SUPPORT AND INFORMATION	1
ALSUntangled #74: Withania Somnifera (Ashwagandha)	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
Theme 01 - Epidemiology and Informatics	1
Clinical factors and vascular endothelial growth factor as determinants of disease progression in Indian patients with amyotrophic lateral sclerosis	1
ALSUntangled #76: Wahls protocol	1
ALS due to a novel TBK1 mutation in Brazil	1
Lack of habituation in somatosensory cortex but not in visual cortex of ALS patients	1
Premorbid lipid levels and long-term risk of ALS—a population-based cohort study	1
Amyotrophic lateral sclerosis caused by the C9orf72 expansion in Norway – prevalence, ancestry, clinical characteristics and sociodemographic status	1
LAENALS: epidemiological and clinical features of amyotrophic lateral sclerosis in Latin America	1
Combination of ciprofloxacin/celecoxib as a novel therapeutic strategy for ALS	1
Incidence of amyotrophic lateral sclerosis in Sardinia, Italy: age–sex interaction and spatial–temporal variability	1
Estimation of forced vital capacity using speech acoustics in patients with ALS	1
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	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
What is the extent of reliability and validity evidence for screening tools for cognitive and behavioral change in people with ALS? A systematic review	1
Theme 2 Genetics and Genomics	1
A novel DHTKD1 gene mutation with ALS like presentation: a case report	1
Transcranial magnetic stimulation to monitor disease progression in ALS: a review	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
ALSUntangled #63: ketogenic diets	1
Theme 07 - PRE-CLINICAL THERAPEUTIC STRATEGIES	1
Plasma neurofilament light levels show elevation two years prior to diagnosis of amyotrophic lateral sclerosis in the UK Biobank	1
The incidence and prevalence of motor neurone disease in South Australia	1
Rurality modifies the association between symptoms and the diagnosis of amyotrophic lateral sclerosis	1
Autophagy dysregulation plays a crucial role in regulatory T-cell loss and neuroinflammation in amyotrophic lateral sclerosis (ALS)	1
Neurodegenerative biomarkers outperform neuroinflammatory biomarkers in amyotrophic lateral sclerosis	1
Theme 08 - Clinical Imaging and Electrophysiology	1
Refining items for a preference-based, amyotrophic lateral sclerosis specific, health-related quality of life scale	1
Urinary p75^ECD levels in patients with amyotrophic lateral sclerosis: a meta-analysis	1
Cerebrospinal fluid levels of NfM in relation to NfL and pNfH as prognostic markers in amyotrophic lateral sclerosis	1
Association of the practice of contact sports with the development of amyotrophic lateral sclerosis	1
Platform Communications: Abstract Book 35th International Symposium on ALS/MND (Complete printable file)	1
Theme 10 Disease Stratification and Phenotyping of Patients	1
Analysis of STMN2 CA repeats in italian ALS patients shows no association	1
Theme 01 - EPIDEMIOLOGY AND INFORMATICS	1
FUS mutations in Asian amyotrophic lateral sclerosis patients: a case report and literature review of genotype-phenotype correlations	1
Editorial to the supplement entitled “assessments of pulmonary function in patients with amyotrophic lateral sclerosis: options and applicability in both the clinical care and clinical trial settings”	1
Treatment continuity of amyotrophic lateral sclerosis with available riluzole formulations: state of the art and current challenges in a ‘real-world’ setting	1
The neuroradiology of upper motor neuron degeneration: PLS, HSP, ALS	1
Focal epilepsy followed by rapidly progressive frontotemporal dementia: a rare manifestation of VCP mutation	1
Prognosis of amyotrophic lateral sclerosis patients after tracheostomy invasive ventilation in Korea	1
SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in SOD1 amyotrophic lateral sclerosis	1
Analysis of non-motor symptoms in amyotrophic lateral sclerosis	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
Genetic overlap between ALS and other neurodegenerative or neuromuscular disorders	1
ALSUntangled #66: antimycobacterial antibiotics.	1
Geographical distribution of clinical trials in amyotrophic lateral sclerosis: a scoping review	1
Muscle MRI in motor neuron diseases: a systematic review	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
MRI biomarkers for memory-related impairment in amyotrophic lateral sclerosis: a systematic review	1
Evidence for generalizability of edaravone efficacy using a novel machine learning risk-based subgroup analysis tool	1
Trends in survival of ALS from a population-based registry	1
Blood glycated hemoglobin level is not associated with disease progression in amyotrophic lateral sclerosis	1
ALSUntangled #78: Zinc	1
Expanding the spectrum of KIF5A mutations—case report of a large kindred with familial ALS and overlapping syndrome	1
Predicting amyotrophic lateral sclerosis (ALS) progression with machine learning	1
Cognitive reserve in ALS: the role of occupational skills and requirements	1