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 2021-04-01 to 2025-04-01.)

Article	Citations
Single breath counting is an effective screening tool for forced vital capacity in ALS	46
Theme 12 Clinical Management and Support	32
ALS incidence and population aging in Northern Italy	28
Theme 10 Disease Stratification and Phenotyping of Patients	28
Gut microbiome differences between amyotrophic lateral sclerosis patients and spouse controls	26
Determining the need for caregiver support using ALSFRS-R and its limitations	23
A survey of current practice in genetic testing in amyotrophic lateral sclerosis in the UK and Republic of Ireland: implications for future planning	22
REVEALS—a longitudinal cohort study of multifaceted respiratory assessment in ALS	19
Neurologists’ understanding of reproductive medicine options for genetic forms of motor neuron disease	19
Measuring disability in amyotrophic lateral sclerosis/motor neuron disease: the WHODAS 2.0-36, WHODAS 2.0-32, and WHODAS 2.0-12	17
Expanding the clinical and genetic spectrum of SQSTM1-related disorders in family with personality disorder and frontotemporal dementia	17
Stigma experienced by ALS/PMA patients and their caregivers: a mixed-methods study	17
ALSUntangled #62: vitamin C	17
A speech-based prognostic model for dysarthria progression in ALS	16
Primary lateral sclerosis natural history study – planning, designing, and early enrollment	15
PROSA—a multicenter prospective observational study to develop low-burden digital speech biomarkers in ALS and FTD	15
The cholesterol depleting agent, (2-Hydroxypropyl)-ß-cyclodextrin, does not affect disease progression in SOD1 ^G93A mice	15
ALSUntangled #66: antimycobacterial antibiotics.	15
A geographical study on amyotrophic lateral sclerosis in Rio Grande Do Norte, Brazil, from 2005 to 2018	14
Incorporating patient preferences and burden-of-disease in evaluating ALS drug candidate AMX0035: a Bayesian decision analysis perspective	14
Low plasma hyaluronan is associated with faster functional decline in patients with amyotrophic lateral sclerosis	14
Estimation of forced vital capacity using speech acoustics in patients with ALS	14
Urine specific gravity to identify and predict hydration need in ALS	13
Genotype-phenotype association and functional analysis of hnRNPA1 mutations in amyotrophic lateral sclerosis	13
Imaging extra-motor dysfunction in motor neuron disease: achievements and controversies	13

ALSUntangled # 69: astaxanthin	13
Validity and reliability measures of the Swedish Karolinska version of the Edinburgh Cognitive and Behavioral ALS Screen (SK-ECAS)	12
Clinical and demographical characteristics in a cohort of MND patients treated with riluzole. Differences between tablets and oral suspension	12
The amyotrophic lateral sclerosis-health index (ALS-HI): development and evaluation of a novel outcome measure	12
Percutaneous gastrostomy, mechanical ventilation and survival in amyotrophic lateral sclerosis: an observational study in an incident cohort	11
Clinical testing panels for ALS: global distribution, consistency, and challenges	11
Rapid classification of a novel ALS-causing I149S variant in superoxide dismutase-1	11
Clinicoradiological features in amyotrophic lateral sclerosis patients with olfactory dysfunction	11
Previous psychiatric disorders in the multistep hypothesis of amyotrophic lateral sclerosis: a South Korean population study	11
Theme 08 - CLINICAL IMAGING AND ELECTROPHYSIOLOGY	11
Direct health costs of amyotrophic lateral sclerosis in a multidisciplinary ALS unit in Catalonia (Spain)	10
Demographic changes in a large motor neuron disease cohort in Portugal: a 27 year experience	10
Theme 09 - Clinical Trials and Trial Design	10
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	9
Genetic and epigenetic disease modifiers in an Italian C9orf72 family expressing ALS, FTD or PD clinical phenotypes	9
Theme 01 - Epidemiology and Informatics	9
Epidemiological and genetic features of amyotrophic lateral sclerosis in Latin America and the Caribbean: a systematic review	9
How to break the news in amyotrophic lateral sclerosis/motor neuron disease: practical guidelines from experts	9
ECAS correlation with metabolic alterations on FDG-PET imaging in ALS	9
Theme 03 - In Vitro Experimental Models	9
A nurse coaching intervention to improve support to individuals living with ALS	9
Incidence of amyotrophic lateral sclerosis in Sardinia, Italy: age–sex interaction and spatial–temporal variability	9
A homozygous p.Val120Leu (c.358G > C) SOD1 mutation led to slowly progressive amyotrophic lateral sclerosis in a Brazilian family	9
Apathy in amyotrophic lateral sclerosis: systematic review and meta-analysis of frequency, correlates, and outcomes	8
Single task-level, 2SD-based cutoffs for the Italian version of the Edinburgh Cognitive and Behavioral ALS screen (ECAS)	8
A novel DHTKD1 gene mutation with ALS like presentation: a case report	8
The diagnostic value of the Italian version of the Edinburgh Cognitive and Behavioral ALS Screen (ECAS)	8
Clinical epidemiology of amyotrophic lateral sclerosis in Liguria, Italy: a ten year follow up study	8
Expanding the spectrum of KIF5A mutations—case report of a large kindred with familial ALS and overlapping syndrome	8
How the prospect of a clinical trial impacts decision-making for predictive genetic testing in ALS	8
Development, reliability, validity, and acceptability of the remote administration of the Edinburgh Cognitive and Behavioural ALS Screen (ECAS)	8
Rurality modifies the association between symptoms and the diagnosis of amyotrophic lateral sclerosis	7
Correction	7
Defining cognitive impairment in amyotrophic lateral sclerosis: an evaluation of empirical approaches	7
Prognosis of amyotrophic lateral sclerosis patients after tracheostomy invasive ventilation in Korea	7
Perils of predictive testing for unaffected people from motor neuron disease families with no identified causal gene	7
ALSFRS-R decline rate prior to baseline is not useful for stratifying subsequent progression of functional decline	7
Muscle MRI in motor neuron diseases: a systematic review	7
A novel homozygous loss-of-function variant in SOD1 causing progressive spastic tetraplegia and axial hypotonia	7
Correction	7
Impact of the covid-19 pandemic on amyotrophic lateral sclerosis care in the UK	7
Specialized multidisciplinary care improves ALS survival in Belgium: a population-based retrospective study	6
Recruitment of population-based controls for ALS cases from the National ALS Registry	6
Predicting amyotrophic lateral sclerosis (ALS) progression with machine learning	6
Pulmonary function decline in amyotrophic lateral sclerosis	6
Prevalence of amyotrophic lateral sclerosis in the United States, 2018	6
Introduction	6
Neurodegenerative biomarkers outperform neuroinflammatory biomarkers in amyotrophic lateral sclerosis	6
Plasma neurofilament analysis in VITALITY-ALS	6
Factors affecting anticipatory grief of family carers supporting people living with Motor Neurone disease: the impact of disease symptomatology	6

Association of the practice of contact sports with the development of amyotrophic lateral sclerosis	5
Semantic behavioral variant frontotemporal dementia and semantic dementia associated with TARDBP mutations	5
Letter to Editor	5
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	5
MiNDAUS partnership: a roadmap for the cure and management of motor Neurone disease	5
A novel splice site FUS mutation in a familial ALS case: effects on protein expression	5
Peripheral immunity relate to disease progression and prognosis in amyotrophic lateral sclerosis	5
Amyotrophic lateral sclerosis mortality rates in Latin America and the Caribbean: a meta-analysis	5
ALSUntangled #65: glucocorticoid corticosteroids	5
Theme 04 - IN VIVO EXPERIMETAL MODELS	5
Residential exposure associations with ALS risk, survival, and phenotype: a Michigan-based case-control study	5
Association of apolipoprotein E ε4 allele and amyotrophic lateral sclerosis in Chinese population	5
COURAGE-ALS: a randomized, double-blind phase 3 study designed to improve participant experience and increase the probability of success	5
Theme 02 - GENETICS AND GENOMICS	5
Impact of occupational categories on the incidence of amyotrophic lateral sclerosis in Sardinia Island, Italy	5
Caregivers’ divergent perspectives on patients’ well-being and attitudes towards hastened death in Germany, Poland and Sweden	5
An electronic health record cohort of Veterans with amyotrophic lateral sclerosis	5
Dyspnea (breathlessness) in amyotrophic lateral sclerosis/motor neuron disease: prevalence, progression, severity, and correlates	5
Theme 05 - HUMAN CELL BIOLOGY AND PATHOLOGY (including iPSC studies)	4
Comparing Amyotrophic lateral sclerosis (ALS) patient characteristics from the National ALS Registry and the Massachusetts ALS Registry, data through 2015	4
Platform Communications: Abstract Book – 34th International Symposium on ALS/MND (Complete printable file)	4
Spanish adaptation of the Rasch-Built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS)	4
Alteration in ornithine metabolism due to mutation in ALDH18A1 masquerading as ALS in pregnancy	4
Rapid progression of amyotrophic lateral sclerosis after initiation of GLP-1 agonist: a case report	4
Increased synthesis of pro-inflammatory cytokines in C9ORF72 patients	4
Serum heat shock protein concentrations are not associated with amyotrophic lateral sclerosis risk or survival in three European populations	4
Genetic ancestry and risk allele C9orf72 rs3849942 T for amyotrophic lateral sclerosis in Latin American populations	4
Motor neuron disease in three asymptomatic pVal50Met TTR gene carriers	4
Analysis of STMN2 CA repeats in italian ALS patients shows no association	4
Quantitative susceptibility mapping in amyotrophic lateral sclerosis: automatic quantification of the magnetic susceptibility in the subcortical nuclei	4
Subcortical grey matter involvement in ALS and PLS – vulnerable hubs of cortico-cortical and cortico-basal circuits: extrapyramidal, cognitive, bulbar and respiratory correlates	4
Theme 2 Genetics and Genomics	4
Geographical clusters of amyotrophic lateral sclerosis and the Bradford Hill criteria	4
‘Outcomes of genetic testing in the London MND Center: the importance of achieving timely results and correlations to family history’	4
Association of UNC13A with increased amyotrophic lateral sclerosis risk, bulbar onset, and lower motor neuron involvement in a Norwegian ALS cohort	4
Theme 11 - Cognitive and Psychological Assessment and Support	4
Theme 12 - Clinical Management and Support	4
Treatment continuity of amyotrophic lateral sclerosis with available riluzole formulations: state of the art and current challenges in a ‘real-world’ setting	4
ALS due to c.1189 + 1G > T (splice donor) TBK1 mutation	4
Theme 5 Human Cell Biology and Pathology	4
Development and validation of a machine-learning ALS survival model lacking vital capacity (VC-Free) for use in clinical trials during the COVID-19 pandemic	3
Motor neuron diseases are not exclusively motor; the SSR paradigm	3
Predicting dysphagia onset in patients with ALS: the ALS dysphagia risk score	3
Urinary p75^ECD levels in patients with amyotrophic lateral sclerosis: a meta-analysis	3
A novel mutation in the ALS2 gene in an iranian kurdish family with juvenile amyotrophic lateral sclerosis	3
FUS mutations in Asian amyotrophic lateral sclerosis patients: a case report and literature review of genotype-phenotype correlations	3
Corticospinal tract and motor cortex degeneration in pure hereditary spastic paraparesis type 4 (SPG4)	3
Describing and characterising variability in ALS disease progression	3
Theme 07 - Pre-Clinical Therapeutic Strategies	3
ALS due to a novel TBK1 mutation in Brazil	3
Epidemiological and clinical profile of amyotrophic lateral sclerosis in Ethiopia: a 5-year multicenter retrospective study	3
Evidence for generalizability of edaravone efficacy using a novel machine learning risk-based subgroup analysis tool	3
Routine blood biochemical biomarkers in amyotrophic lateral sclerosis: Systematic review and cohort analysis	3
Short tandem repeat expansions in LRP12 are absent in cohorts of familial and sporadic amyotrophic lateral sclerosis patients of European ancestry	3
Integrated analysis of transcriptomic and proteomic alterations in mouse models of ALS/FTD identify early metabolic adaptions with similarities to mitochondrial dysfunction disorders	3
Tailoring patients’ enrollment in ALS clinical trials: the effect of disease duration and vital capacity cutoffs	3
Patient engagement in research: lessons learned from CAPTURE ALS, a longitudinal observational ALS study	3
A de novo c.113 T > C: p.L38R mutation of SPTLC1: case report of a girl with sporadic juvenile amyotrophic lateral sclerosis	3
Theme 08 - Clinical Imaging and Electrophysiology	3
Table of Contents - Poster Communications	3
Yield of EEG features as markers of disease severity in amyotrophic lateral sclerosis: a pilot study	3
Remote digital assessment of amyotrophic lateral sclerosis functional rating scale – a multicenter observational study	3
Blood glycated hemoglobin level is not associated with disease progression in amyotrophic lateral sclerosis	3
Premorbid lipid levels and long-term risk of ALS—a population-based cohort study	3
Factors associated with Noninvasive ventilation compliance in patients with ALS/MND	3
Association between vascular risk factors and cognitive impairment in amyotrophic lateral sclerosis: a case-control study	3
An identical DCTN1 mutation in two Chinese siblings manifest as dHMN and ALS respectively: a case report	3
Longitudinal comparison of the self-administered ALSFRS-RSE and ALSFRS-R as functional outcome measures in ALS	3
ALS patients with concurrent neuroinflammatory disorders; a nationwide clinical records study	3
Theme 10 - Disease Stratification and Phenotyping of Patients	3
Care burden and related factors among informal caregivers of patients with amyotrophic lateral sclerosis	2
Geographical distribution of clinical trials in amyotrophic lateral sclerosis: a scoping review	2
LAENALS: epidemiological and clinical features of amyotrophic lateral sclerosis in Latin America	2
Prevalence of amyotrophic lateral sclerosis in the United States using established and novel methodologies, 2017	2
Theme 11 - Cognitive and Psychological Assessment and Support	2
HLA and amyotrophic lateral sclerosis: a systematic review and meta-analysis	2
Genetic overlap between ALS and other neurodegenerative or neuromuscular disorders	2
Time from amyotrophic lateral sclerosis symptom onset to key disease milestones: analysis of data from a multinational cross-sectional survey	2
Comparison of the ability of the King’s and MiToS staging systems to predict disease progression and survival in amyotrophic lateral sclerosis	2
Occupation and amyotrophic lateral sclerosis risk: a case-control study in the isolated island population of Malta	2

Psychological resilience is protective against cognitive deterioration in motor neuron diseases	2
Assessing pulmonary function in ALS using electrical impedance tomography	2
The ALSFRS-R Summit: a global call to action on the use of the ALSFRS-R in ALS clinical trials	2
Theme 06 - Tissue Biomarkers	2
Clinical factors and vascular endothelial growth factor as determinants of disease progression in Indian patients with amyotrophic lateral sclerosis	2
A verb-naming test accurately detects cognitive changes in ALS	2
Relationship between quantitative strength and functional outcomes in the phase 2 FORTITUDE-ALS trial	2
Theme 02 - Genetics and Genomics	2
Compound heterozygous P67S/D91A SOD1 mutations in an ALS family with apparently sporadic case	2
Autophagy dysregulation plays a crucial role in regulatory T-cell loss and neuroinflammation in amyotrophic lateral sclerosis (ALS)	2
Amyotrophic lateral sclerosis: exploring pathophysiology in the context of treatment	2
Maximizing the translational potential of neurophysiology in amyotrophic lateral sclerosis: a study on compound muscle action potentials	2
Slowly progressing Amyotrophic lateral sclerosis associated with the F21L variant in the SOD1 gene: Demographic and clinical characteristics	2
Tracheostomy ventilation in motor neurone disease: a snapshot of UK practice	2
Verbal expressive language minimally affected in non-demented people living with amyotrophic lateral sclerosis	2
Self-assessment of amyotrophic lateral sclerosis functional rating scale on the patient’s smartphone proves to be non-inferior to clinic data capture	2
Theme 08 - Clinical Imaging and Electrophysiology	2
The Beaumont behavioral intervention in a Chinese amyotrophic lateral sclerosis cohort	2
Racial disparities in ALS diagnostic delay: a single center’s experience and review of potential contributing factors	2
Theme 10 - DISEASE STRATIFICATION AND PHENOTYPING OF PATIENTS	2
Table of Contents - Poster Communications	2
Theme 05 - Human Cell Biology and Pathology	2
Theme 10 - Disease Stratification and Phenotyping of Patients	2
Living beyond loss: a qualitative investigation of caregivers’ experiences after the death of their relatives with amyotrophic lateral sclerosis	2
The flail-arm syndrome: the influence of phenotypic features	2
The relationship between ventilatory function and cognitive and behavioral impairment in ALS	2
Study of “ALS reversals”: LifeTime environmental exposures (StARLiTE)	1
Correction	1
The contralateral co-movement test in a Chinese population with amyotrophic lateral sclerosis	1
Theme 6 Tissue Biomarkers	1
Jean Marie Baptiste Vianney de Jong (1937–2024)	1
Slow progression of amyotrophic lateral sclerosis in a Chinese patient carrying SOD1 p.S135T mutation	1
Incidence of amyotrophic lateral sclerosis in the United States, 2014–2016	1
ALSUntangled #67: rituximab	1
Sensitivity and specificity of the ECAS in identifying executive function and social cognition deficits in MND	1
Amyotrophic lateral sclerosis and lovastatin: a promising treatment perspective	1
Theme 05 - Human Cell Biology and Pathology (including iPSC studies)	1
ALSUntangled #70: caffeine	1
Theme 01 - Epidemiology and Informatics	1
ALSUntangled #73: Lion’s Mane	1
Implementation of the MiNDToolkit intervention for the management of behavioral symptoms in MND by healthcare professionals: a mixed-methods process evaluation	1
Human endogenous retrovirus K (HERV-K) env in neuronal extracellular vesicles: a new biomarker of motor neuron disease	1
What, how and when do families communicate about ALS? A qualitative exploration of parents’ and children’s perceptions	1
Amyotrophic lateral sclerosis associated with a pathological expansion in the ATXN7 gene	1
Analysis of non-motor symptoms in amyotrophic lateral sclerosis	1
A case of juvenile-onset amyotrophic lateral sclerosis with a de novo frameshift FUS gene mutation presenting with bilateral abducens palsy	1
Theme 8 Clinical Imaging and Electrophysiology	1
Persistent high levels of perceived fatigue are not associated with hypermetabolism in patients with amyotrophic lateral sclerosis	1
Acceptability and potential benefit of a self-compassion intervention for people living with amyotrophic lateral sclerosis: a mixed methods pilot study	1
Care trajectories and adherence to respiratory management recommendations in persons living with amyotrophic lateral sclerosis: a ten-year cohort study in a French tertiary university centre	1
Drug treatments and interactions, disease progression and quality of life in ALS patients	1
Correction	1
ALSUntangled #68: ozone therapy	1
FUS gene mutation in amyotrophic lateral sclerosis: a new case report and systematic 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
Theme 04 - In Vivo Experimetal Models	1
Analysis of incidence of motor neuron disease in England 1998–2019: use of three linked datasets	1
Theme 03 - IN VITRO EXPERIMENTAL MODELS	1
Can amyotrophic lateral sclerosis progression really pause? A cohort study using the medical research council scale	1
ALSUntangled #75: Portable neuromodulation stimulator therapy	1
Determining impairment in the Swedish, Polish and German ECAS: the importance of adjusting for age and education	1
The incidence and prevalence of motor neurone disease in South Australia	1
Prevalence of depression in amyotrophic lateral sclerosis/motor neuron disease: multi-attribute ascertainment and trajectories over 30 months	1
MiToS and King’s staging as clinical outcome measures in ALS: a retrospective analysis of the FORTITUDE-ALS trial	1
Genetic variation in targets of lipid-lowering drugs and amyotrophic lateral sclerosis risk: a Mendelian randomization study	1
Theme 9 Clinical Trials and Trial Design	1
SOD1 gene screening in ALS – frequency of mutations, patients’ attitudes to genetic information and transition to tofersen treatment in a multi-center program	1
Theme 07 - PRE-CLINICAL THERAPEUTIC STRATEGIES	1
Prognostic value of motor and extramotor involvement in ALS	1
ALSUntangled #64: butyrates	1
Can resting lung function predict the response of a person living with motor neuron disease to a hypoxic challenge test?	1
Frequency of C9orf72 and SOD1 mutations in 302 sporadic ALS patients from three German ALS centers	1
Portable fixed dynamometry enables home-based, reliable assessment of muscle strength in patients with amyotrophic lateral sclerosis: a pilot study	1
Mortality among family members of patients with amyotrophic lateral sclerosis – a Swedish register-based study	1
Theme 07 - Pre-Clinical Therapeutic Strategies	1
Use of a new ALS specific respiratory questionnaire: the ARES score	1
ALSUntangled #71: Nuedexta	1
Genetic testing for amyotrophic lateral sclerosis in Canada – an assessment of current practices	1
Fatigue and anxiety mediate the effect of dyspnea on quality of life in amyotrophic lateral sclerosis	1
Living with a parent with ALS - adolescents’ need for professional support from the adolescents’ and the parents’ perspectives	1
Cardiac troponin T is elevated and increases longitudinally in ALS patients	1