OOIR: Observatory of International Research

Papers

(The TQCC of Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration is 4. 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
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

Urine specific gravity to identify and predict hydration need in ALS	13
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
Validity and reliability measures of the Swedish Karolinska version of the Edinburgh Cognitive and Behavioral ALS Screen (SK-ECAS)	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
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
Rurality modifies the association between symptoms and the diagnosis of amyotrophic lateral sclerosis	7
Correction	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
Residential exposure associations with ALS risk, survival, and phenotype: a Michigan-based case-control study	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
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
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
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
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
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