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 2022-05-01 to 2026-05-01.)

Article	Citations
Correction	34
Clinical and demographical characteristics in a cohort of MND patients treated with riluzole. Differences between tablets and oral suspension	32
Development, reliability, validity, and acceptability of the remote administration of the Edinburgh Cognitive and Behavioural ALS Screen (ECAS)	30
Incorporating patient preferences and burden-of-disease in evaluating ALS drug candidate AMX0035: a Bayesian decision analysis perspective	30
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	25
Validity and reliability measures of the Swedish Karolinska version of the Edinburgh Cognitive and Behavioral ALS Screen (SK-ECAS)	25
Rapid classification of a novel ALS-causing I149S variant in superoxide dismutase-1	25
Clinical epidemiology of amyotrophic lateral sclerosis in Liguria, Italy: a ten year follow up study	24
The amyotrophic lateral sclerosis-health index (ALS-HI): development and evaluation of a novel outcome measure	23
Single task-level, 2SD-based cutoffs for the Italian version of the Edinburgh Cognitive and Behavioral ALS screen (ECAS)	22
Theme 5 Human Cell Biology and Pathology	21
Genetic ancestry and risk allele C9orf72 rs3849942 T for amyotrophic lateral sclerosis in Latin American populations	20
Impact of occupational categories on the incidence of amyotrophic lateral sclerosis in Sardinia Island, Italy	20
Challenges in medical care for amyotrophic lateral sclerosis: a survey of physicians from Republic of Bashkortostan (Russia), Belarus, and Kazakhstan	19
Residential exposure associations with ALS risk, survival, and phenotype: a Michigan-based case-control study	19
Theme 7 Pre-Clinical Therapeutic Strategies	18
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	17
Emerging strategies for interpreting variants of uncertain significance (VUS) in amyotrophic lateral sclerosis	17
Epidemiology, clinical features, and management of amyotrophic lateral sclerosis in the neurology department of the Bogodogo University Hospital in Ouagadougou, Burkina Faso	16
Patient engagement in research: lessons learned from CAPTURE ALS, a longitudinal observational ALS study	16
Care burden and related factors among informal caregivers of patients with amyotrophic lateral sclerosis	14
Portable fixed dynamometry enables home-based, reliable assessment of muscle strength in patients with amyotrophic lateral sclerosis: a pilot study	14
Assessing pulmonary function in ALS using electrical impedance tomography	14
Peripheral immunity relate to disease progression and prognosis in amyotrophic lateral sclerosis	14
Amyotrophic lateral sclerosis: exploring pathophysiology in the context of treatment	14

Theme 11 - Cognitive and Psychological Assessment and Support	14
Correction	13
Time from amyotrophic lateral sclerosis symptom onset to key disease milestones: analysis of data from a multinational cross-sectional survey	13
Can resting lung function predict the response of a person living with motor neuron disease to a hypoxic challenge test?	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
ALS motor phenotypes: a revised ‘OPM’ classification	13
Yield of EEG features as markers of disease severity in amyotrophic lateral sclerosis: a pilot study	12
Genetic variation in targets of lipid-lowering drugs and amyotrophic lateral sclerosis risk: a Mendelian randomization study	12
Theme 10 - Disease Stratification and Phenotyping of Patients	12
The contralateral co-movement test in a Chinese population with amyotrophic lateral sclerosis	11
Slowly progressive late-onset spinal muscular atrophy Finkel-type related to p.Pro56Ser VABP mutation in Colombia	11
Limited data capture on reproductive medicine use in amyotrophic lateral sclerosis: implications for monitoring access	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
Automated speech analytics in ALS: higher sensitivity of digital articulatory precision over the ALSFRS-R	10
Feature selection using metaheuristics to predict annual amyotrophic lateral sclerosis progression	10
Pridopidine treatment in ALS: subgroup analyses from the HEALEY ALS Platform trial	10
Time-to-event prediction in ALS using a landmark modeling approach, using the ALS Natural History Consortium dataset	10
The involvement of palliative care with neurology – a comparison of UK, Switzerland and Italy	10
Platform Communications: Abstract Book – 33rd International Symposium on ALS/MND (Complete printable file)	9
Comparison Of King’s Clinical Staging In Multinational Amyotrophic Lateral Sclerosis Cohorts	9
Expanding the phenotype of TARDBP mutation in a Tunisian family with clinical phenotype heterogeneity	9
IMPACT-ALS: summary of results from a European survey of people living with ALS	9
PRECISION ALS—an integrated pan European patient data platform for ALS	9
The natural history of ALS: Baseline characteristics from a multicenter clinical cohort	9
Exposure to electromagnetic fields does not modify neither the age of onset nor the disease progression in ALS patients	9
International network for ALS research and care (INARC)	9
Neuropsychological assessment practices in PRECISION-ALS: challenges and opportunities for harmonization	9
A novel TBK1 loss-of-function variant associated with ALS and parkinsonism phenotypes	9
Exploring the needs and preferences of people with amyotrophic lateral sclerosis (ALS) when making genomic testing decisions: an interview study	9
Self-reported initiation apathy is related to worse quality of life in amyotrophic lateral sclerosis	9
Incidence of MND in Canterbury, New Zealand and impact of a key worker role on hospital admissions	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	8
Response letter to: a homozygous p.Val120Leu (c.358G > C) SOD1 mutation led to slowly progressive amyotrophic lateral sclerosis in a Brazilian family	8
A revision to the United States national ALS registry’s algorithm to improve Case-Ascertainment	8
Changes in saccadic intrusions over time as an objective biomarker to follow ALS disease progression	8
Increased total daily energy expenditure in mild to moderate ALS: greater contribution from physical activity energy expenditure than hyper-metabolism	8
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	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
Body mass index is lower in asymptomatic C9orf72 expansion carriers but not in SOD1 pathogenic variant car	8
Respiratory measurements, respiratory symptoms, and quality of life in ALS: results from the REVEALS study	7
Cognition in the course of ALS—a meta-analysis	7
Epidemiology and economic burden of amyotrophic lateral sclerosis in the United States: a literature review	7
Dextromethorphan/quinidine (DMQ) for reducing bulbar symptoms in amyotrophic lateral sclerosis – assessment of treatment experience in a multicenter study	7
The genetics of autosomal recessive ALS: a review of the common forms and their phenotypes	7
ALSUntangled #80: ISRIB (Integrated stress response InhiBitor)	7
Why is nutrition vital for advancing ALS care and clinical research?	7
Theme 03 - In Vitro Experimental Models	7
ALSUntangled #79: alpha-lipoic acid	6
Association of UNC13A with increased amyotrophic lateral sclerosis risk, bulbar onset, and lower motor neuron involvement in a Norwegian ALS cohort	6

Longitudinal comparison of the self-administered ALSFRS-RSE and ALSFRS-R as functional outcome measures in ALS	6
Demographic changes in a large motor neuron disease cohort in Portugal: a 27 year experience	6
The cholesterol depleting agent, (2-Hydroxypropyl)-ß-cyclodextrin, does not affect disease progression in SOD1 ^G93A mice	6
Quantitative susceptibility mapping for investigating brain iron deposits in amyotrophic lateral sclerosis: correlations with clinical phenotype and disease progression	6
ALSUntangled #65: glucocorticoid corticosteroids	6
Primary lateral sclerosis natural history study – planning, designing, and early enrollment	6
How the prospect of a clinical trial impacts decision-making for predictive genetic testing in ALS	6
A speech-based prognostic model for dysarthria progression in ALS	6
Theme 12 - Clinical Management and Support	6
Serum heat shock protein concentrations are not associated with amyotrophic lateral sclerosis risk or survival in three European populations	6
ALSUntangled # 69: astaxanthin	6
Theme 10 Disease Stratification and Phenotyping of Patients	6
Study of “ALS reversals”: LifeTime environmental exposures (StARLiTE)	5
Relationship between quantitative strength and functional outcomes in the phase 2 FORTITUDE-ALS trial	5
ALSUntangled #71: Nuedexta	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
Theme 05 - Human Cell Biology and Pathology (including iPSC studies)	5
Translation and validation of the Arabic version of the amyotrophic lateral sclerosis assessment questionnaire (ALSAQ40-AR)	5
The Beaumont behavioral intervention in a Chinese amyotrophic lateral sclerosis cohort	5
Acceptability and potential benefit of a self-compassion intervention for people living with amyotrophic lateral sclerosis: a mixed methods pilot study	5
Correction	5
Frequency of C9orf72 and SOD1 mutations in 302 sporadic ALS patients from three German ALS centers	5
Patients’ choices regarding ventilatory support affect opioid use in amyotrophic lateral sclerosis	5
Theme 01 - Epidemiology and Informatics	5
Amyotrophic lateral sclerosis in Colombia: a population-based study of incidence and socioeconomic determinants	5
HLA and amyotrophic lateral sclerosis: a systematic review and meta-analysis	5
Verbal expressive language minimally affected in non-demented people living with amyotrophic lateral sclerosis	5
Serum NfL, but not GFAP, differentiates primary lateral sclerosis from adrenomyeloneuropathy and hereditary spastic paraplegia type 4	5
Letter to Editor	5
Characterization, epidemiology, and factors associated with evolution and survival in patients with amyotrophic lateral sclerosis in southeastern Spain, 2008–2021: a population-based study	5
Prevalence of depression in amyotrophic lateral sclerosis/motor neuron disease: multi-attribute ascertainment and trajectories over 30 months	5
SOD1 mutations in Taiwanese ALS patients: Clinical characteristics, frequency, and a p.T138R founder effect	5
Theme 9 Clinical Trials and Trial Design	5
Theme 08 - Clinical Imaging and Electrophysiology	5
A verb-naming test accurately detects cognitive changes in ALS	5
Four decades of ALS care: a retrospective study of epidemiology, clinical course and changes in management	4
In memoriam Ettore Beghi, 1947–2022	4
Harmonized standard operating procedures for administering the ALS functional rating scale-revised	4
Theme 02 - Genetics and Genomics	4
Challenges and solutions to complex data governance issues in cross-national, cross-sectoral, multidisciplinary real world health research: a descriptive overview	4
Current practices in the nutrition management of people with amyotrophic lateral sclerosis (ALS): a survey of U.S. ALS care teams	4
Behavioral subtypes impact prognosis and survival in amyotrophic lateral sclerosis: a clustering-based approach	4
Clinical trajectories of genetic variants in ALS: a European observational study within PRECISION-ALS	4
Occupational lead exposure and amyotrophic lateral sclerosis survival in the Danish National Patient Registry	4
Theme 3 In Vitro Experimental Models	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
Italian reference values and brain correlates of verbal fluency index – vs standard verbal fluency test – to assess executive dysfunction in ALS	4
Spanish adaptation of the Primary Lateral Sclerosis Functional Rating Scale (PLSFRS)	4
The impact of motor neurone disease on oral health: a scoping review	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
Amyotrophic lateral sclerosis in Saudi Arabia: a multicenter descriptive study	4
Effects of COVID-19 on motor neuron disease mortality in the United States: a population-based cross-sectional study	4
Clinically meaningful change: evaluation of the Rasch-built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS) and the ALSFRS-R	4
Prevalence of cognitive impairment in motor neuron diseases: alternative norming methods lead to considerably diverse estimates	4
Prodromal symptoms in amyotrophic lateral sclerosis from the perspective of the patient and of the caregiver	4
Thoracic electrical impedance tomography for assessing progression of pulmonary dysfunction in ALS	4
Specialized multidisciplinary care improves ALS survival in Belgium: a population-based retrospective study	3
PROSA—a multicenter prospective observational study to develop low-burden digital speech biomarkers in ALS and FTD	3
Physical activity in amyotrophic lateral sclerosis: a systematic review of the methodologies used to assess a possible association	3
Neurofilament light chain dynamics in the pre-symptomatic phase of amyotrophic lateral sclerosis: a case report	3
Correction	3
Stigma experienced by ALS/PMA patients and their caregivers: a mixed-methods study	3
Serum small non-coding RNA define molecular subtypes in amyotrophic lateral sclerosis	3
Platform Communications: Abstract Book – 34th International Symposium on ALS/MND (Complete printable file)	3
Describing and characterising variability in ALS disease progression	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
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
Theme 2 Genetics and Genomics	3
Multistep modeling applied to a Malaysian ALS registry	3
REVEALS—a longitudinal cohort study of multifaceted respiratory assessment in ALS	3
Theme 11 - Cognitive and Psychological Assessment and Support	3
Comparing Amyotrophic lateral sclerosis (ALS) patient characteristics from the National ALS Registry and the Massachusetts ALS Registry, data through 2015	3
Self-care mobile application for people with Amyotrophic Lateral Sclerosis: a development and usability test	3
ECAS correlation with metabolic alterations on FDG-PET imaging in ALS	3
Percutaneous gastrostomy, mechanical ventilation and survival in amyotrophic lateral sclerosis: an observational study in an incident cohort	3
Neurologists’ understanding of reproductive medicine options for genetic forms of motor neuron disease	3
Assessment of language and executive functions in ALS: the brief executive Language screen	3
Psychometric properties of the Russian version of the Edinburgh cognitive and behavioral amyotrophic lateral sclerosis screen	3

Research access barriers in amyotrophic lateral sclerosis	3
A novel homozygous loss-of-function variant in SOD1 causing progressive spastic tetraplegia and axial hypotonia	3
SOD1-ALS mimicking an inflammatory neuropathy: a case report	3
A geographical study on amyotrophic lateral sclerosis in Rio Grande Do Norte, Brazil, from 2005 to 2018	3
A nurse coaching intervention to improve support to individuals living with ALS	3
Rapid progression of amyotrophic lateral sclerosis after initiation of GLP-1 agonist: a case report	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
A study of patient recall and comprehension of genetic testing results in amyotrophic lateral sclerosis (ALS)	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
A national survey of pseudobulbar affect and symptomatic treatment in Amyotrophic Lateral Sclerosis	2
ALSUntangled #74: Withania Somnifera (Ashwagandha)	2
Table of Contents - Poster Communications	2
Living with a parent with ALS - adolescents’ need for professional support from the adolescents’ and the parents’ perspectives	2
ALSUntangled #76: Wahls protocol	2
Unraveling the contribution of executive functions to language impairment in ALS	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
Natural history of the revised ALS functional rating scale and its association with survival: the PRECISION-ALS Extant Study	2
ALSUntangled #75: Portable neuromodulation stimulator therapy	2
Focal epilepsy followed by rapidly progressive frontotemporal dementia: a rare manifestation of VCP mutation	2
Remote digital assessment of amyotrophic lateral sclerosis functional rating scale – a multicenter observational study	2
Reliable change indices for the cognitive section of Portuguese version of the Edinburgh Cognitive and Behavioural ALS screen (ECAS)	2
Short tandem repeat expansions in LRP12 are absent in cohorts of familial and sporadic amyotrophic lateral sclerosis patients of European ancestry	2
Incidence of amyotrophic lateral sclerosis in Chile	2
Psychological resilience is protective against cognitive deterioration in motor neuron diseases	2
Amyotrophic lateral sclerosis caused by the C9orf72 expansion in Norway – prevalence, ancestry, clinical characteristics and sociodemographic status	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
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
Determinants and progression of stigma in amyotrophic lateral sclerosis/motor neuron disease	2
Subjective sleep quality in amyotrophic lateral sclerosis: a systematic review and meta-analysis	2
Racial disparities in ALS diagnostic delay: a single center’s experience and review of potential contributing factors	2
Theme 8 Clinical Imaging and Electrophysiology	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
Cerebrospinal fluid levels of NfM in relation to NfL and pNfH as prognostic markers in amyotrophic lateral sclerosis	2
Theme 06 - Tissue Biomarkers	2
MRI biomarkers for memory-related impairment in amyotrophic lateral sclerosis: a systematic review	2
A novel mutation in the ALS2 gene in an iranian kurdish family with juvenile amyotrophic lateral sclerosis	2
Platform Communications: Abstract Book 35th International Symposium on ALS/MND (Complete printable file)	2
‘Outcomes of genetic testing in the London MND Center: the importance of achieving timely results and correlations to family history’	2
ALSUntangled #78: Zinc	2
Homozygosity for the C allele at UNC13A rs12608932 seems to compromise cognition in ALS independently of the cognitive domains	2
Profiles of disease progression and predictors of mortality in Colombian patients with amyotrophic lateral sclerosis: a comprehensive longitudinal study	2
Lack of habituation in somatosensory cortex but not in visual cortex of ALS patients	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
Four families with slowly progressive ALS due to p.Val120Leu SOD1 variant in Northeast Brazil	2
Combination of ciprofloxacin/celecoxib as a novel therapeutic strategy for ALS	2
How to measure person-centred care in people living with ALS: development and validation of the patient experience PEMALS questionnaire	2
Cognitive reserve in ALS: the role of occupational skills and requirements	2
An electronic health record cohort of Veterans with amyotrophic lateral sclerosis	2
Clinical characterization of the proximal lower-limb ALS phenotype: a retrospective cohort study	2
Geographical distribution of clinical trials in amyotrophic lateral sclerosis: a scoping review	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
Prognosis of amyotrophic lateral sclerosis patients after tracheostomy invasive ventilation in Korea	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
Neurodegenerative biomarkers outperform neuroinflammatory biomarkers in amyotrophic lateral sclerosis	1
Premorbid lipid levels and long-term risk of ALS—a population-based cohort study	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
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
Clinical phenotype of frontotemporal dementia associated with the Pro392Leu SQSTM1 mutation	1
Analysis of STMN2 CA repeats in italian ALS patients shows no association	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
What can vowel acoustics reveal about the communicative participation of people living with ALS?	1
Targeting metabolic dysfunction in amyotrophic lateral sclerosis: therapeutic potential of GLP-1 receptor agonists	1
Methodological considerations in the analysis of survival data in amyotrophic lateral sclerosis	1
Analysis of non-motor symptoms in amyotrophic lateral sclerosis	1
Theme 1 Epidemiology and Informatics	1
ALS due to c.1189 + 1G > T (splice donor) TBK1 mutation	1
Rurality modifies the association between symptoms and the diagnosis of amyotrophic lateral sclerosis	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
Clinical parameters affecting the course of amyotrophic lateral sclerosis: a longitudinal analysis of the Greek registry for amyotrophic lateral sclerosis (ALS-GR)	1
ALSUntangled #66: antimycobacterial antibiotics.	1
SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in SOD1 amyotrophic lateral sclerosis	1
Blood glycated hemoglobin level is not associated with disease progression in amyotrophic lateral sclerosis	1
Cognitive and behavioral involvement in spinal and bulbar muscular atrophy (SBMA): a systematic review	1
ALSUntangled #82: N-acetylcysteine	1
Autophagy dysregulation plays a crucial role in regulatory T-cell loss and neuroinflammation in amyotrophic lateral sclerosis (ALS)	1
Clinical factors and vascular endothelial growth factor as determinants of disease progression in Indian patients with amyotrophic lateral sclerosis	1
Theme 5 Human Cell Biology and Pathology	1
LAENALS: epidemiological and clinical features of amyotrophic lateral sclerosis in Latin America	1
Expanding the spectrum of KIF5A mutations—case report of a large kindred with familial ALS and overlapping syndrome	1
Patient experience and clinical outcome assessment validity in amyotrophic lateral sclerosis: a targeted literature review	1
Transcranial magnetic stimulation to monitor disease progression in ALS: a review	1
Association of the practice of contact sports with the development of amyotrophic lateral sclerosis	1
A novel DHTKD1 gene mutation with ALS like presentation: a case report	1
The incidence and prevalence of motor neurone disease in South Australia	1
Theme 01 - Epidemiology and Informatics	1
Theme 2 Genetics and Genomics	1
Treatment continuity of amyotrophic lateral sclerosis with available riluzole formulations: state of the art and current challenges in a ‘real-world’ setting	1
Gadolinium enhancement of the cauda equina in a case of familial ALS with p.S135G SOD1 mutation	1
Genetic overlap between ALS and other neurodegenerative or neuromuscular disorders	1