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 2020-11-01 to 2024-11-01.)

Article	Citations
The human gut microbiota in people with amyotrophic lateral sclerosis	60
Gut microbiome differences between amyotrophic lateral sclerosis patients and spouse controls	37
An old friend who has overstayed their welcome: the ALSFRS-R total score as primary endpoint for ALS clinical trials	36
Prevalence of amyotrophic lateral sclerosis in the United States using established and novel methodologies, 2017	32
Incidence of amyotrophic lateral sclerosis in the United States, 2014–2016	28
Prevalence of amyotrophic lateral sclerosis (ALS), United States, 2016	26
Defining cognitive impairment in amyotrophic lateral sclerosis: an evaluation of empirical approaches	23
An online non-meditative mindfulness intervention for people with ALS and their caregivers: a randomized controlled trial	22
Neuroimaging in primary lateral sclerosis	21
Disorders of sleep and wakefulness in amyotrophic lateral sclerosis (ALS): a systematic review	20
Prevalence of pain in amyotrophic lateral sclerosis: a systematic review and meta-analysis	19
Pulmonary function decline in amyotrophic lateral sclerosis	17
Patient reported outcomes in ALS: characteristics of the self-entry ALS Functional Rating Scale-revised and the Activities-specific Balance Confidence Scale	16
Associations between autoimmune diseases and amyotrophic lateral sclerosis: a register-based study	16
Amyotrophic lateral sclerosis caregiver burden and patients’ quality of life during COVID-19 pandemic	16
Apathy in amyotrophic lateral sclerosis: systematic review and meta-analysis of frequency, correlates, and outcomes	15
Genetics of frontotemporal dementia in China	15
Estimation of forced vital capacity using speech acoustics in patients with ALS	15
Chitotriosidase as biomarker for early stage amyotrophic lateral sclerosis: a multicenter study	15
MRI biomarkers for memory-related impairment in amyotrophic lateral sclerosis: a systematic review	14
Cognitive reserve is associated with altered clinical expression in amyotrophic lateral sclerosis	14
Percutaneous gastrostomy in amyotrophic lateral sclerosis: a review	14
Increased synthesis of pro-inflammatory cytokines in C9ORF72 patients	14
Genetics of primary lateral sclerosis	14
Simultaneous ALS and SCA2 associated with an intermediate-length ATXN2 CAG-repeat expansion	14

Trauma and amyotrophic lateral sclerosis: a systematic review and meta-analysis	14
The diagnostic value of the Italian version of the Edinburgh Cognitive and Behavioral ALS Screen (ECAS)	13
Muscle MRI in motor neuron diseases: a systematic review	13
The clinical spectrum of primary lateral sclerosis	13
Three different short-interval intracortical inhibition methods in early diagnosis of amyotrophic lateral sclerosis	12
Urinary p75^ECD levels in patients with amyotrophic lateral sclerosis: a meta-analysis	12
Italian adaptation of the Beaumont Behavioral Inventory (BBI): psychometric properties and clinical usability	12
Neuropathology of primary lateral sclerosis	12
The path to diagnosis in ALS: delay, referrals, alternate diagnoses, and clinical progression	12
Genetic testing for amyotrophic lateral sclerosis in Canada – an assessment of current practices	12
Neurophysiological features of primary lateral sclerosis	11
Remote digital assessment of amyotrophic lateral sclerosis functional rating scale – a multicenter observational study	11
Neurofilament light chain as a biological marker for amyotrophic lateral sclerosis: a meta-analysis study	11
Human endogenous retrovirus K (HERV-K) env in neuronal extracellular vesicles: a new biomarker of motor neuron disease	11
Incidence of amyotrophic lateral sclerosis in Sardinia, Italy: age–sex interaction and spatial–temporal variability	11
Novel serum autoantibodies against ß-actin (ACTB) in amyotrophic lateral sclerosis	11
Cardiac troponin T is elevated and increases longitudinally in ALS patients	11
Case-control study in ALS using the National ALS Registry: lead and agricultural chemicals are potential risk factors	10
Epidemiological and genetic features of amyotrophic lateral sclerosis in Latin America and the Caribbean: a systematic review	10
Increased worsening of amyotrophic lateral sclerosis patients during Covid-19-related lockdown in France	10
Analysis of incidence of motor neuron disease in England 1998–2019: use of three linked datasets	10
Arterial blood gas analysis: base excess and carbonate are predictive of noninvasive ventilation adaptation and survival in amyotrophic lateral sclerosis	10
Factors associated with Noninvasive ventilation compliance in patients with ALS/MND	10
Clinical features and incidence trends of amyotrophic lateral sclerosis in Navarre, Spain, 2007–2018: a population-based study	9
Respiratory onset in amyotrophic lateral sclerosis: clinical features and spreading pattern	9
History of vigorous leisure-time physical activity and early onset amyotrophic lateral sclerosis (ALS), data from the national ALS registry: 2010–2018	9
Characteristics of pain and the burden it causes in patients with amyotrophic lateral sclerosis – a longitudinal study	9
Persian adaptation of Edinburgh Cognitive and Behavioural Screen (ECAS)	9
Gastrointestinal biopsies and amyotrophic lateral sclerosis – results from a cohort study of 1.1 million individuals	9
Impact of the covid-19 pandemic on amyotrophic lateral sclerosis care in the UK	9
Reliable change indices for the Italian Edinburgh Cognitive and Behavioral ALS Screen (ECAS)	9
Genotype-phenotype correlations of KIF5A stalk domain variants	9
ALSUntangled #64: butyrates	9
What is amyotrophic lateral sclerosis prevalence?	8
Problem-focused coping underlying lower caregiver burden in ALS-FTD: implications for caregiver intervention	8
Tracheostomy ventilation in motor neurone disease: a snapshot of UK practice	8
Juvenile amyotrophic lateral sclerosis associated with biallelic c.757delG mutation of sorbitol dehydrogenase gene	8
Motor neuron disease beginning with frontotemporal dementia: clinical features and progression	8
Dysfunction of the left angular gyrus may be associated with writing errors in ALS	8
Dying from ALS in Sweden: clinical status, setting, and symptoms	8
Cerebellar degeneration in primary lateral sclerosis: an under-recognized facet of PLS	8
Therapeutic effect of a novel curcumin derivative GT863 on a mouse model of amyotrophic lateral sclerosis	7
Occupational history associates with ALS survival and onset segment	7
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	7
The future of ALS diagnosis and staging: where do we go from here?	7
Using the ALSFRS-R in multicentre clinical trials for amyotrophic lateral sclerosis: potential limitations in current standard operating procedures	7
Comparison of the ability of the King’s and MiToS staging systems to predict disease progression and survival in amyotrophic lateral sclerosis	7
Genetic and epigenetic disease modifiers in an Italian C9orf72 family expressing ALS, FTD or PD clinical phenotypes	7
Epidemiology and economic burden of amyotrophic lateral sclerosis in the United States: a literature review	7
Clinically meaningful change: evaluation of the Rasch-built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS) and the ALSFRS-R	7

Yield of EEG features as markers of disease severity in amyotrophic lateral sclerosis: a pilot study	7
Clinical testing panels for ALS: global distribution, consistency, and challenges	7
COURAGE-ALS: a randomized, double-blind phase 3 study designed to improve participant experience and increase the probability of success	6
Single breath counting is an effective screening tool for forced vital capacity in ALS	6
Progression of cognitive and behavioral disturbances in motor neuron diseases assessed using standard and computer-based batteries	6
Care burden and related factors among informal caregivers of patients with amyotrophic lateral sclerosis	6
Prevalence of amyotrophic lateral sclerosis in the United States, 2018	6
Clinical care and therapeutic trials in PLS	6
The Latin American Epidemiology Network for ALS (Laenals)	6
Occupation and amyotrophic lateral sclerosis risk: a case-control study in the isolated island population of Malta	6
Delivery of nutritional management services to people with amyotrophic lateral sclerosis (ALS)	6
A potential upper motor neuron measure of bulbar involvement in amyotrophic lateral sclerosis using jaw muscle coherence	6
Trends in survival of ALS from a population-based registry	6
Plasma neurofilament light levels show elevation two years prior to diagnosis of amyotrophic lateral sclerosis in the UK Biobank	5
Clinical trials in pediatric ALS: a TRICALS feasibility study	5
Combination of ciprofloxacin/celecoxib as a novel therapeutic strategy for ALS	5
A revision to the United States national ALS registry’s algorithm to improve Case-Ascertainment	5
Preface: promoting research in PLS: current knowledge and future challenges	5
ALS patients with concurrent neuroinflammatory disorders; a nationwide clinical records study	5
An identical DCTN1 mutation in two Chinese siblings manifest as dHMN and ALS respectively: a case report	5
A survey of current practice in genetic testing in amyotrophic lateral sclerosis in the UK and Republic of Ireland: implications for future planning	5
Non-motor symptoms in amyotrophic lateral sclerosis	5
Survival and epidemiology of amyotrophic lateral sclerosis (ALS) cases in the Chicago and Detroit metropolitan cohort: incident cases 2009–2011 and survival through 2018	5
Environmental risk factors for amyotrophic lateral sclerosis: a case–control study in Canada and France	5
Monocyte CD14 and HLA-DR expression increases with disease duration and severity in amyotrophic lateral sclerosis	5
Current practices and barriers in gastrostomy indication in amyotrophic lateral sclerosis: a survey of ALS care teams in The Netherlands	5
Challenges and opportunities for Multi-National Investigator-Initiated clinical trials for ALS: European and United States collaborations	5
Clinicoradiological features in amyotrophic lateral sclerosis patients with olfactory dysfunction	5
CAPTURE ALS: the comprehensive analysis platform to understand, remedy and eliminate ALS	5
Cognition in the course of ALS—a meta-analysis	5
PRECISION ALS—an integrated pan European patient data platform for ALS	5
The patient's perspective of remote respiratory assessments during the COVID-19 pandemic	5
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	5
Sensitivity and specificity of the ECAS in identifying executive function and social cognition deficits in MND	5
Corticospinal tract and motor cortex degeneration in pure hereditary spastic paraparesis type 4 (SPG4)	5
A speech-based prognostic model for dysarthria progression in ALS	5
MiToS and King’s staging as clinical outcome measures in ALS: a retrospective analysis of the FORTITUDE-ALS trial	4
Study of “ALS reversals”: LifeTime environmental exposures (StARLiTE)	4
Association of apolipoprotein E ε4 allele and amyotrophic lateral sclerosis in Chinese population	4
Progressive arm muscle weakness in ALS follows the same sequence regardless of onset site: use of TOMS, a novel analytic method to track limb strength	4
Phrenic nerve study as outcome in clinical trials for amyotrophic lateral sclerosis	4
Prevalence of depression in amyotrophic lateral sclerosis/motor neuron disease: multi-attribute ascertainment and trajectories over 30 months	4
FUS gene mutation in amyotrophic lateral sclerosis: a new case report and systematic review	4
Fatigue and anxiety mediate the effect of dyspnea on quality of life in amyotrophic lateral sclerosis	4
Neurodegenerative biomarkers outperform neuroinflammatory biomarkers in amyotrophic lateral sclerosis	4
The quality of life and depression in primary caregivers of patients with amyotrophic lateral sclerosis is affected by patient-related and culture-specific conditions	4
The association of theory of mind with language and visuospatial abilities in amyotrophic lateral sclerosis: a pilot study	4
A qualitative evaluation of the revised amyotrophic lateral sclerosis functional rating scale (ALSFRS-R) by the patient community: a web-based cross-sectional survey	4
Genetic overlap between ALS and other neurodegenerative or neuromuscular disorders	4
Predicting dysphagia onset in patients with ALS: the ALS dysphagia risk score	4
Transcranial magnetic stimulation to monitor disease progression in ALS: a review	4
FDG-PET shows weak correlation between focal motor weakness and brain metabolic alterations in ALS	4
Correlation between oculometric measures and clinical assessment in ALS patients participating in a phase IIb clinical drug trial	4
Crushing riluzole tablets: evaluation of loss of powder and active principle in a home-simulation experiment	3
Artificial intelligence for screening and diagnosis of amyotrophic lateral sclerosis: a systematic review and meta-analysis	3
A Brazilian multicentre study on the clinical and epidemiological profiles of 1116 patients with amyotrophic lateral sclerosis and its phenotypic variants	3
The incidence and prevalence of motor neurone disease in South Australia	3
A novel mutation in the ALS2 gene in an iranian kurdish family with juvenile amyotrophic lateral sclerosis	3
MiNDAUS partnership: a roadmap for the cure and management of motor Neurone disease	3
A novel homozygous loss-of-function variant in SOD1 causing progressive spastic tetraplegia and axial hypotonia	3
Development, reliability, validity, and acceptability of the remote administration of the Edinburgh Cognitive and Behavioural ALS Screen (ECAS)	3
ALSUntangled #63: ketogenic diets	3
What is the extent of reliability and validity evidence for screening tools for cognitive and behavioral change in people with ALS? A systematic review	3
Correlations between measures of ALS respiratory function: is there an alternative to FVC?	3
The natural history of ALS: Baseline characteristics from a multicenter clinical cohort	3
ALSUntangled #67: rituximab	3
Use of a new ALS specific respiratory questionnaire: the ARES score	3
Frequency of C9orf72 and SOD1 mutations in 302 sporadic ALS patients from three German ALS centers	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
Evidence for generalizability of edaravone efficacy using a novel machine learning risk-based subgroup analysis tool	3
Better understanding the neurobiology of primary lateral sclerosis	3
Recruitment of population-based controls for ALS cases from the National ALS Registry	3
Non-motor symptoms in amyotrophic lateral sclerosis: lessons from Parkinson’s disease	3
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	3
Occupational lead exposure and survival with amyotrophic lateral sclerosis	3
Does limited EMG denervation in early primary lateral sclerosis predict amyotrophic lateral sclerosis?	3
A case of juvenile-onset amyotrophic lateral sclerosis with a de novo frameshift FUS gene mutation presenting with bilateral abducens palsy	3
LAENALS: epidemiological and clinical features of amyotrophic lateral sclerosis in Latin America	3
The relationship between ventilatory function and cognitive and behavioral impairment in ALS	3
Geographical clusters of amyotrophic lateral sclerosis and the Bradford Hill criteria	3

Measuring disability in amyotrophic lateral sclerosis/motor neuron disease: the WHODAS 2.0-36, WHODAS 2.0-32, and WHODAS 2.0-12	3
Expanding the spectrum of KIF5A mutations—case report of a large kindred with familial ALS and overlapping syndrome	3
Prevalence of ALS in all 50 states in the United States, data from the National ALS Registry, 2011–2018	3
Amyotrophic lateral sclerosis (ALS) health charities are central to ALS care: perspectives of Canadians affected by ALS	3
Italian reference values and brain correlates of verbal fluency index – vs standard verbal fluency test – to assess executive dysfunction in ALS	3
Medical therapies for amyotrophic lateral sclerosis-related respiratory decline: an appraisal of needs, opportunities and obstacles	2
The ALSFRS-R Summit: a global call to action on the use of the ALSFRS-R in ALS clinical trials	2
Compound heterozygous P67S/D91A SOD1 mutations in an ALS family with apparently sporadic case	2
Compensatory metabolic and central respiratory drive mechanisms in ALS	2
Caregivers’ divergent perspectives on patients’ well-being and attitudes towards hastened death in Germany, Poland and Sweden	2
Cognitive reserve in ALS: the role of occupational skills and requirements	2
Factors affecting anticipatory grief of family carers supporting people living with Motor Neurone disease: the impact of disease symptomatology	2
Investigating TBP CAG/CAA trinucleotide repeat expansions in a Taiwanese cohort with ALS	2
Demographic changes in a large motor neuron disease cohort in Portugal: a 27 year experience	2
Platform Communications: Abstract Book – 33rd International Symposium on ALS/MND (Complete printable file)	2
Toward genetic counseling practice standards for diagnostic testing in amyotrophic lateral sclerosis and frontotemporal dementia	2
An online intervention for carers to manage behavioral symptoms in motor neuron disease (MiNDToolkit): a randomized parallel multi-center feasibility trial	2
Theme 12 - CLINICAL MANAGEMENT, SUPPORT AND INFORMATION	2
Drug treatments and interactions, disease progression and quality of life in ALS patients	2
Implementation of the MiNDToolkit intervention for the management of behavioral symptoms in MND by healthcare professionals: a mixed-methods process evaluation	2
SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in SOD1 amyotrophic lateral sclerosis	2
Mortality among family members of patients with amyotrophic lateral sclerosis – a Swedish register-based study	2
Validation of the Italian version of the Rasch-Built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS) administered to patients and their caregivers	2
Tailoring patients’ enrollment in ALS clinical trials: the effect of disease duration and vital capacity cutoffs	2
Effect of riluzole on weight in short-term and long-term survivors of amyotrophic lateral sclerosis	2
Primary lateral sclerosis natural history study – planning, designing, and early enrollment	2
Refining items for a preference-based, amyotrophic lateral sclerosis specific, health-related quality of life scale	2
Previous psychiatric disorders in the multistep hypothesis of amyotrophic lateral sclerosis: a South Korean population study	2
Prescription and acceptance of durable medical equipment in FORTITUDE-ALS, a study of reldesemtiv in ALS: post hoc analyses of a randomized, double-blind, placebo-controlled clinical trial	2
ALSUntangled #71: Nuedexta	2
Sandhoff disease in the elderly: a case study	2
The expanding clinical and genetic spectrum of alsin-related disorders: the first cohort of Brazilian patients	2
The involvement of palliative care with neurology – a comparison of UK, Switzerland and Italy	2
The utility of ALS staging systems in a multi-ethnic patient cohort	2
Intuitive Staging Correlates With King’s Clinical Stage	2
Measuring disease progression in primary lateral sclerosis	2
Early juvenile reading epilepsy and later frontotemporal dementia (FTD): expanding the clinical phenotype of C9ORF72 mutation?	2
Association between vascular risk factors and cognitive impairment in amyotrophic lateral sclerosis: a case-control study	2
Comparison Of King’s Clinical Staging In Multinational Amyotrophic Lateral Sclerosis Cohorts	2
Validity and reliability measures of the Swedish Karolinska version of the Edinburgh Cognitive and Behavioral ALS Screen (SK-ECAS)	2
Adaptation and norming of the Edinburgh Cognitive and behavioural amyotrophic lateral sclerosis screen (ECAS) for three language groups in South Africa	2
Theme 09 - CLINICAL TRIALS AND TRIAL DESIGN	2
Determining impairment in the Swedish, Polish and German ECAS: the importance of adjusting for age and education	2
Clinical management and disease-modifying treatment for amyotrophic lateral sclerosis in African hospital centers: the TROPALS study	2
ALSFRS-R decline rate prior to baseline is not useful for stratifying subsequent progression of functional decline	1
Supporting people with Motor Neuron Disease (MND) to make decisions about gastrostomy feeding tube placement: a survey of UK healthcare professionals’ practice and beliefs	1
Direct health costs of amyotrophic lateral sclerosis in a multidisciplinary ALS unit in Catalonia (Spain)	1
ALSUntangled #61: melatonin	1
Racial disparities in ALS diagnostic delay: a single center’s experience and review of potential contributing factors	1
Incorporating patient preferences and burden-of-disease in evaluating ALS drug candidate AMX0035: a Bayesian decision analysis perspective	1
Amyotrophic lateral sclerosis: exploring pathophysiology in the context of treatment	1
ALSUntangled #66: antimycobacterial antibiotics.	1
The flail-arm syndrome: the influence of phenotypic features	1
ALSUntangled 59: Tamoxifen	1
ALS due to a novel TBK1 mutation in Brazil	1
SOD1-related ALS with anticipation in a large family from Martinique	1
A brief report on juvenile amyotrophic lateral sclerosis cases in the United States National ALS Registry: 2010–2018	1
Amyotrophic lateral sclerosis mortality rates in Latin America and the Caribbean: a meta-analysis	1
Peripheral immunity relate to disease progression and prognosis in amyotrophic lateral sclerosis	1
Exposure to electromagnetic fields does not modify neither the age of onset nor the disease progression in ALS patients	1
Stigma experienced by ALS/PMA patients and their caregivers: a mixed-methods study	1
Resilient together-ALS: leveraging the NDD transdiagnostic framework to develop an early dyadic intervention for people with amyotrophic lateral sclerosis and their informal care-partners	1
Prognosis of amyotrophic lateral sclerosis patients after tracheostomy invasive ventilation in Korea	1
Reversible sub-acute motor neuron syndrome after mushroom intoxication masquerading as amyotrophic lateral sclerosis	1
ALSUntangled #62: vitamin C	1
Can amyotrophic lateral sclerosis progression really pause? A cohort study using the medical research council scale	1
Prognostic value of motor and extramotor involvement in ALS	1
A novel nonsense SOD1 mutation (p.Asn140Ter) in a sporadic amyotrophic lateral sclerosis case with rapid progression	1
Analysis of non-motor symptoms in amyotrophic lateral sclerosis	1
HLA and amyotrophic lateral sclerosis: a systematic review and meta-analysis	1
A verb-naming test accurately detects cognitive changes in ALS	1
Describing and characterising variability in ALS disease progression	1
FUS mutations in Asian amyotrophic lateral sclerosis patients: a case report and literature review of genotype-phenotype correlations	1
A novel splice site FUS mutation in a familial ALS case: effects on protein expression	1
Aberrant dynein function promotes TDP-43 aggregation and upregulation of p62 in male mice harboring transgenic human TDP-43	1
A homozygous p.Val120Leu (c.358G > C) SOD1 mutation led to slowly progressive amyotrophic lateral sclerosis in a Brazilian family	1
Inosine supplements only reach the CNS in molybdenum deficient humans and may cause astrocyte degeneration and bulbar–respiratory disease	1
ALS incidence and population aging in Northern Italy	1
Automated speech analytics in ALS: higher sensitivity of digital articulatory precision over the ALSFRS-R	1
Imaging extra-motor dysfunction in motor neuron disease: achievements and controversies	1
Living with a parent with ALS - adolescents’ need for professional support from the adolescents’ and the parents’ perspectives	1
A geographical study on amyotrophic lateral sclerosis in Rio Grande Do Norte, Brazil, from 2005 to 2018	1
Living beyond loss: a qualitative investigation of caregivers’ experiences after the death of their relatives with amyotrophic lateral sclerosis	1
Time from amyotrophic lateral sclerosis symptom onset to key disease milestones: analysis of data from a multinational cross-sectional survey	1
PROSA—a multicenter prospective observational study to develop low-burden digital speech biomarkers in ALS and FTD	1
Autophagy dysregulation plays a crucial role in regulatory T-cell loss and neuroinflammation in amyotrophic lateral sclerosis (ALS)	1
Epidemiological and clinical profile of amyotrophic lateral sclerosis in Ethiopia: a 5-year multicenter retrospective study	1
Portable fixed dynamometry enables home-based, reliable assessment of muscle strength in patients with amyotrophic lateral sclerosis: a pilot study	1
Association of the practice of contact sports with the development of amyotrophic lateral sclerosis	1
Expanding the phenotype of TARDBP mutation in a Tunisian family with clinical phenotype heterogeneity	1
Theme 12 - Clinical Management and Support	1
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	1
Familial motor neuron disease: co-occurrence of PLS and ALS (-FTD)	1
Single task-level, 2SD-based cutoffs for the Italian version of the Edinburgh Cognitive and Behavioral ALS screen (ECAS)	1
The palmomental reflex in amyotrophic lateral sclerosis – a clinical sign of executive or motor dysfunction?	1