Relevant bibliographies by topics / ALS Amyotrophic

Academic literature on the topic 'ALS Amyotrophic'

Author: Grafiati
Published: 10 December 2022
Last updated: 28 January 2023

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Journal articles on the topic "ALS Amyotrophic"

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Brauer, Sandra. "Amyotrophic lateral sclerosis (ALS)." Journal of Physiotherapy 59, no. 1 (March 2013): 61. http://dx.doi.org/10.1016/s1836-9553(13)70155-3.

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Cividini, Camilla, Silvia Basaia, Edoardo G. Spinelli, Elisa Canu, Veronica Castelnovo, Nilo Riva, Giordano Cecchetti, et al. "Amyotrophic Lateral Sclerosis–Frontotemporal Dementia." Neurology 98, no. 4 (December 1, 2021): e402-e415. http://dx.doi.org/10.1212/wnl.0000000000013123.

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Background and ObjectivesA significant overlap between amyotrophic lateral sclerosis (ALS) and behavioral variant of frontotemporal dementia (bvFTD) has been observed at clinical, genetic, and pathologic levels. Within this continuum of presentations, the presence of mild cognitive or behavioral symptoms in patients with ALS has been consistently reported, although it is unclear whether this is to be considered a distinct phenotype or rather a natural evolution of ALS. Here, we used mathematical modeling of MRI connectomic data to decipher common and divergent neural correlates across the ALS–frontotemporal dementia (FTD) spectrum.MethodsWe included 83 patients with ALS, 35 patients with bvFTD, and 61 healthy controls, who underwent clinical, cognitive, and MRI assessments. Patients with ALS were classified according to the revised Strong criteria into 54 ALS with only motor deficits (ALS-cn), 21 ALS with cognitive or behavioral involvement (ALS-ci/bi), and 8 ALS with bvFTD (ALS-FTD). First, we assessed the functional and structural connectivity patterns across the ALS-FTD spectrum. Second, we investigated whether and where MRI connectivity alterations of patients with ALS with any degree of cognitive impairment (i.e., ALS-ci/bi and ALS-FTD) resembled more the pattern of damage of one (ALS-cn) or the other end (bvFTD) of the spectrum, moving from group-level to single-subject analysis.ResultsAs compared with controls, extensive structural and functional disruption of the frontotemporal and parietal networks characterized bvFTD (bvFTD-like pattern), while a more focal structural damage within the sensorimotor-basal ganglia areas characterized ALS-cn (ALS-cn-like pattern). ALS-ci/bi patients demonstrated an ALS-cn-like pattern of structural damage, diverging from ALS-cn with similar motor impairment for the presence of enhanced functional connectivity within sensorimotor areas and decreased functional connectivity within the bvFTD-like pattern. On the other hand, patients with ALS-FTD resembled both structurally and functionally the bvFTD-like pattern of damage with, in addition, the structural ALS-cn-like damage in the motor areas.DiscussionOur findings suggest a maladaptive role of functional rearrangements in ALS-ci/bi concomitantly with similar structural alterations compared to ALS-cn, supporting the hypothesis that ALS-ci/bi might be considered as a phenotypic variant of ALS, rather than a consequence of disease worsening.
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Geevasinga, Nimeshan, James Howells, Parvathi Menon, Mehdi van den Bos, Kazumoto Shibuya, José Manuel Matamala, Susanna B. Park, Karen Byth, Matthew C. Kiernan, and Steve Vucic. "Amyotrophic lateral sclerosis diagnostic index." Neurology 92, no. 6 (January 11, 2019): e536-e547. http://dx.doi.org/10.1212/wnl.0000000000006876.

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ObjectiveThe aim of the study was to assess the utility of a novel amyotrophic lateral sclerosis (ALS) diagnostic index (ALSDI).MethodsA prospective multicenter study was undertaken on patients presenting with suspected ALS. The reference standard (Awaji criteria) was applied to all patients at recruitment. Patients were randomly assigned to a training (75%) and a test (25%) cohort. The ALSDI was developed in the training cohort and its diagnostic utility was subsequently assessed in the test cohort.ResultsA total of 407 patients were recruited, with 305 patients subsequently diagnosed with ALS and 102 with a non-ALS mimicking disorder. The ALSDI reliably differentiated ALS from neuromuscular disorders in the training cohort (area under the curve 0.92, 95% confidence interval 0.89–0.95), with ALSDI ≥4 exhibiting 81.6% sensitivity, 89.6% specificity, and 83.5% diagnostic accuracy. The ALSDI diagnostic utility was confirmed in the test cohort (area under the curve 0.90, 95% confidence interval 0.84–0.97), with ALSDI ≥4 exhibiting 83.3% sensitivity, 84% specificity, and 83.5% diagnostic accuracy. In addition, the diagnostic utility of the ALSDI was confirmed in patients who were Awaji negative at recruitment and in those exhibiting a predominantly lower motor neuron phenotype.ConclusionThe ALSDI reliably differentiates ALS from mimicking disorders at an early stage in the disease process.Classification of evidenceThis study provides Class I evidence that for patients with suspected ALS, the ALSDI distinguished ALS from neuromuscular mimicking disorders.
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Zwicker, Jocelyn, Danial Qureshi, Robert Talarico, Pierre Bourque, Mary Scott, Nicolas Chin-Yee, and Peter Tanuseputro. "Dying of amyotrophic lateral sclerosis." Neurology 93, no. 23 (October 31, 2019): e2083-e2093. http://dx.doi.org/10.1212/wnl.0000000000008582.

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ObjectiveTo describe health care service utilization and cost for decedents with and without amyotrophic lateral sclerosis (ALS) in the last year of life.MethodsUsing linked health administrative data, we conducted a retrospective, population-based cohort study of Ontario, Canada, decedents from 2013 to 2015. We examined demographic data, rate of utilization, and cost of health care services in the last year of life.ResultsWe identified 283,096 decedents in Ontario, of whom 1,212 (0.42%) had ALS. Decedents with ALS spent 3 times as many days in an intensive care unit (ICU) (mean 6.3 vs 2.1, p < 0.001), and twice as many days using complex continuing care (mean 12.7 vs 6.0, p < 0.001) and home care (mean 99.1 vs 41.3, p < 0.001). A greater percentage of decedents with ALS received palliative home care (44% vs 20%, p < 0.001) and palliative physician home visits (40% vs 18%, p < 0.001) than decedents without ALS. Among decedents with ALS, a palliative physician home visit in the last year of life was associated with reduced adjusted odds of dying in hospital (odds ratio 0.65, 95% confidence interval 0.48–0.89) and fewer days spent in the ICU. Mean cost of care in the last year of life was greater for those with ALS ($68,311.98 vs $55,773.48, p < 0.001).ConclusionsIn this large population-based cohort of decedents, individuals with ALS spent more days in the ICU, received more community-based services, and incurred higher costs of care in the last year of life. A palliative care physician home visit was associated with improved end of life outcomes; however, the majority of patients with ALS did not access such services.
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Gregory, Jenna M., Delphine Fagegaltier, Hemali Phatnani, and Matthew B. Harms. "Genetics of Amyotrophic Lateral Sclerosis." Current Genetic Medicine Reports 8, no. 4 (November 7, 2020): 121–31. http://dx.doi.org/10.1007/s40142-020-00194-8.

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Abstract Purpose of Review Amyotrophic lateral sclerosis and frontotemporal dementia (ALS-FTD) spectrum disorder is a rare fatal disease with strong genetic influences. The implementation of short-read sequencing methodologies in increasingly large patient cohorts has rapidly expanded our knowledge of the complex genetic architecture of the disease. We aim to convey the broad history of ALS gene discovery as context for a focused review of 11 ALS gene associations reported over the last 5 years. We also summarize the current level of genetic evidence for all previously reported genes. Recent Findings The history of ALS gene discovery has occurred in at least four identifiable phases, each powered by different technologies and scale of investigation. The most recent epoch, benefitting from population-scale genome data, large international consortia, and low-cost sequencing, has yielded 11 new gene associations. We summarize the current level of genetic evidence supporting these ALS genes, highlighting any genotype-phenotype or genotype-pathology correlations, and discussing preliminary understanding of molecular pathogenesis. This era has also raised uncertainty around prior ALS-associated genes and clarified the role of others. Summary Our understanding of the genetic underpinning of ALS has expanded rapidly over the last 25 years and has led directly to the clinical application of molecularly driven therapies. Ongoing sequencing efforts in ALS will identify new causative and risk factor genes while clarifying the status of genes reported in prior eras of research.
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Alekseeva, T. M., N. V. Skripchenko, S. V. Lobzin, V. S. Demeshonok, E. A. Yurkina, V. D. Nazarov, and S. V. Lapin. "Difficulties in diagnosing amyotrophic lateral sclerosis in a HIV-Positive Patient." Journal Infectology 10, no. 4 (December 30, 2018): 139–44. http://dx.doi.org/10.22625/2072-6732-2018-10-4-139-144.

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We described a case of amyotrophic lateral sclerosis (ALS) with comorbid HIV infection. The diagnosis was confirmed by genetic tests. The difficulty of the differential diagnosis between amyotrophic lateral sclerosis and HIV-associated ALS syndrome is discussed.
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Chen, Anton, and C. Gaelyn Garrett. "Otolaryngologic presentations of amyotrophic lateral sclerosis." Otolaryngology–Head and Neck Surgery 132, no. 3 (March 2005): 500–504. http://dx.doi.org/10.1016/j.otohns.2004.09.092.

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OBJECTIVES/HYPOTHESIS: To determine the incidence of voice disturbance as a presenting symptom of amyotrophic lateral sclerosis (ALS) and describe laryngologic features of ALS. STUDY DESIGN: Retrospective review. METHODS: Records of patients with voice disturbance at a voice center and ALS patients at a neurology clinic were reviewed from January 1998 to March 2003. RESULTS: 15 of 1759 patients with voice disturbance were later diagnosed with ALS. Of 220 ALS patients presenting to neurology clinic, 44 had bulbar symptoms and 19 had initially presented to an otolaryngologist. Dysarthria, dysphagia, tongue fasciculation, and incomplete vocal fold closure were common findings. Neuromuscular disease was missed in 8 of 19 ALS patients seen by an otolaryngologist. CONCLUSIONS: Although otolaryngologists rarely encounter undiagnosed ALS patients, a significant portion of bulbar ALS patients are initially evaluated by otolaryngologists. SIGNIFICANCE: Vigilance for neuromuscular abnormalities on otolaryngologic exam is important in patients who present with dysarthria, dysphonia, or dysphagia. EBM rating: C.
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Orsini, Marco, Antônio Marcos da Silva Catharino, Valéria Camargo Silveira, Carlos Henrique Melo Reis, Marcos RG de Freitas, and Acary Bulle de Oliveira. "Pseudopolyneuritic form of amyotrophic lateral sclerosis: Marie-Patrikios type." International Journal of Case Reports and Images 13, no. 2 (September 21, 2022): 118–21. http://dx.doi.org/10.5348/101340z01mo2022cr.

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Introduction: Amyotrophic lateral sclerosis (ALS), also called motor neuron disease (MND), is a progressive, neurodegenerative, and inexorable disease that affects the neurons of the anterior horn of the spinal cord, as well as the lateral funiculus. A rare variant of ALS was first described in 1918 by Patrikios and Marie, called the pseudopolyneuritic form or Marie-Patrikios disease. It is characterized by an initial manifestation with melting of the feet, distal weakness of the muscles of the anterior compartment of the leg, and absence of the Achilles tendon reflex. We present an atypical case of ALS, marked by polyneuropathy and involvement of upper and lower motor neurons. Case Report: A 70-year-old man reported that approximately four years ago he started having pain in the thoracic region with subsequent paresis in the lower limbs. Initially, compressive myelopathy, transverse myelitis, and spastic paraparesis of various causes were thought to be the cause. However, the non-impairment of the superficial and deep sensibility, obviously, with absence of sensorial level, associated to the absence of specific imaging findings in the thoracic and lumbar spine, a normal complete laboratory, ruled out such hypotheses. Conclusion: We highlight that the pseudopolyneuritic form presented in this study has a better prognosis and survival rate when compared to other subtypes of ALS. Thus, a detailed investigation including physical, neurological, and electrophysiological examination is essential to establish the diagnosis and increase the scarce knowledge about this condition.
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Nascimento, Osvaldo JM, Marco Orsini, Camila Pupe, Giseli Quintanilha, Mariana Pimentel De Mello, Caroline Pinto Pássaro, and Marcos RG De Freitas. "Amyotrophic lateral sclerosis with sensitive findings." Revista Neurociências 18, no. 3 (March 31, 2001): 320–23. http://dx.doi.org/10.34024/rnc.2010.v18.8469.

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Introduction. Classical amyotrophic lateral sclerosis (ALS) is not hard to diagnose, but when it comes to atypical forms of motor neuron disease (MND) which account for about 20% in clinical setting, we may face some difficulties in differentiating clearly between atypical forms of ALS/MND and other non-ALS diseases, such as multifocal motor neuropathy, chronic inflammatory demyelinating polyneuropathy and cervical spondylosis. Association between neuropathy and ALS has been reported rarely. Method. We report a patient who presented with clinical/electrophysiological features and investigations suggestive of chronic neuropathy but who later progressed with anterior horn and pyramidal signs and received a final diagnosis of ALS according to the original El Escorial criteria. Conclusion. Our findings support the hypothesis that ALS is a multisystem neurodegenerative disorder that may occasionally include neuropathy among its non-motor features.
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Sauter, W. F., G. Bush, and J. Sommerville. "A single case study: myoelectrically controlled exoskeletal mobilizer for amyotrophic lateral sclerosis (ALS) patients." Prosthetics and Orthotics International 13, no. 3 (December 1989): 145–48. http://dx.doi.org/10.3109/03093648909079423.

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Introduction and clinical pathology of Amyotrophic Lateral Sclerosis (ALS) Amyotrophic Lateral Sclerosis (ALS) also known as Lou Gehrig's disease is the generic name for progressive muscular atrophy and bulbar palsy. It refers to all disorders of the cortico spinal pathways which are characterized by progressive muscle weakness. After multiple sclerosis, ALS is the most common purely neurological disorder (Janiszewski et al. 1983). Information available from the ALS Society indicates that the most common age of onset is 55 years.
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Dissertations / Theses on the topic "ALS Amyotrophic"

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Tjust, Anton. "Extraocular Muscles in Amyotrophic Lateral Sclerosis." Doctoral thesis, Umeå universitet, Anatomi, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-129638.

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Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disease of motor neurons characterized by muscle paralysis and death within 3-5 years of onset. However, due to unknown mechanisms, the extraocular muscles (EOMs) remain remarkably unaffected. The EOMs are highly specialized muscles that differ from other muscles in many respects, including innervation and satellite cells (SCs). Understanding whether these factors play a role in the relative sparing of EOMs in ALS could provide useful clues on how to slow down the progression of ALS in other muscles. The EOMs and limb muscles from terminal ALS patients and age-matched controls as well as the commonly used SOD1G93A ALS mouse model were studied with immunofluorescence. Antibodies against neurofilament and synaptophysin were used to identify nerves and neuromuscular junctions (NMJs); against Pax7, NCAM, MyoD, myogenin, Ki-67, dystrophin and laminin, to identify SCs and their progeny in EOMs and limb muscles. The proportion and fiber size of myofibers containing myosin heavy chain (MyHC) slow tonic and MyHC slow twitch were also determined in human EOMs. The abundance of SCs differed extensively along the length of control human EOMs, being twice as abundant in the anterior portion. Pax7-positive cells were also detected in non-traditional SC positions. EOMs from terminal ALS patients showed similar numbers of resting and activated SCs as the controls. In limb muscles of ALS patients, the number of resting and activated SCs ranged from low (similar to normal aged, sedentary individuals) to high numbers, especially in muscles with long duration of disease and varied between the upper and lower limbs. The EOMs maintained a high degree of innervation compared to hindlimb muscles of symptomatic SOD1G93A mice. MyHC slow tonic fibers were less abundant in ALS patients than in controls. The change seemed more pronounced in bulbar onset patients, and in this group of subjects only, there was a strong association between decline in MyHC slow tonic fibers and age of death. Notably, the decline in MyHC slow tonic fibers was unrelated to disease duration. Our data suggested that SCs play a minor role in the progression of ALS in general and in the sparing of the EOMs in particular. The generally preserved innervation in the EOMs of G93A mice may reflect distinct intrinsic properties relevant for sparing of the oculomotor system.  Even though the EOMs are relatively spared in ALS, MyHC slow tonic myofibers were selectively affected and this may reflect differences in innervation, as these fibers are multiply innervated.
Amyotrofisk lateralskleros (ALS) är en obotlig neurodegenerativ sjukdom som främst påverkar kroppens viljestyrda motoriska nervceller. ALS leder till förlamning, muskelförtvining och slutligen döden genom andningssvikt, vanligen inom tre till fem år efter sjukdomsdebuten. Av okända anledningar så bibehålls ögonmusklernas funktion mycket bättre vid ALS i jämförelse med andra muskler och är hos merparten av patienter i stort sett opåverkade. Ögonmusklerna är mycket specialiserade muskler som skiljer sig från andra muskler i kroppen på flera sätt, bland annat genom deras unika nervförsörjning och genom de satellitceller – muskelspecifika stamceller, som finns i dem. En ökad förståelse för hur dessa faktorer inverkar på ögonmusklernas motståndskraft vid ALS skulle kunna ge värdefulla ledtrådar till hur man skulle kunna sakta ned sjukdomens fortskridande i andra muskler vid ALS. Ögonmuskler och extremitetsmuskler från avlidna ALS-patienter och åldersmatchade friska kontroller, tillsammans med transgena möss med den sjukdomsalstrande mutationen SOD1G93A, studerades genom immunfluorescens och efterföljande mikroskopering. Antikroppar mot molekylerna Pax7, NCAM, MyoD, myogenin, Ki-67, laminin och dystrofin användes för att identifiera satellitceller och deras dotterceller i ögonmuskler och extremitetsmuskler. Antikroppar mot neurofilament och synaptofysin användes för att identifiera nerver och neuromuskulära synapser hos transgena SOD1-möss. Antikroppar mot toniska (tonic) och ryckande (twitch) muskelmyosinkedjor användes för att bestämma proportionen av och storleken på dessa typer av muskelfibrer i ögonmuskler från avlidna ALS-patienter och friska kontroller. Mängden satellitceller varierade mellan de främre och de mer bakre delarna i friska, humana ögonmuskler och var dubbelt så många i den främre delen av muskeln jämfört med den mellersta och bakre delen av muskeln. Celler som uttryckte satellitcellsmarkören Pax7 hittades även i icke-traditionella satellitcellspositioner i ögonmusklerna. Mängden satellitceller i ögonmusklerna från ALS-patienter var samma som hos friska kontroller. I extremitetsmusklerna hos ALS-patienter varierade mängden satellitceller mellan låga nivåer (liknande de hos friska åldrade, inaktiva individer) till höga nivåer, särskilt i muskler där sjukdomen fortskridit under lång tid. Dessutom varierade mängden satellitceller mellan övre och nedre extremiteter. Hos symptomatiska SOD1G93A-möss hade ögonmusklerna en mycket välbevarad innervation jämfört med bakbensmusklerna, där många neuromuskulära synapser saknade kontakt mellan nerven och motorändplattan. Proportionen muskelfibrer med toniska muskelmyosinkedjor var lägre hos ALS-patienter jämfört med friska kontroller. Denna minskning var tydligare hos patienter där sjukdomssymtomen hade debuterat i tugg- och ansiktsmuskulaturen – så kallad bulbär ALS. Dessutom fanns det i den här gruppen, men ingen annan studerad grupp, en stark korrelation mellan nedgången i toniska fibrer och patientens ålder. Värt att notera är att minskningen av toniska muskelfibrer saknade korrelation med hur länge patienten hade varit sjuk i ALS. Den generellt välbevarade innervationen i ögonmusklerna hos SOD1G93A-möss kan spegla distinkta inneboende egenskaper hos ögonmusklerna som är av vikt för bevarandet av ögonrörligheten vid ALS. Gällande satellitceller så antyder våra data att satellitceller och deras regenerativa kapacitet spelar en försumbar roll vid ALS i allmänhet och vid ögonmusklernas bevarande i synnerhet. Slutligen, även om ögonmuskler generellt är välbevarade vid ALS så är toniska muskelfibrer märkbart påverkade och detta kan spegla skillnader mellan olika nervcellsgruppers känslighet vid ALS.
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Rahmani, Kondori Nazanin. "Developing and testing therapies for Amyotrophic Lateral Sclerosis (ALS)." Thesis, Imperial College London, 2013. http://hdl.handle.net/10044/1/34340.

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Amyotrophic Lateral Sclerosis (ALS) is a lethal motor neuron disorder, characterized by selective and progressive degeneration of both upper and lower motor neurons. Currently the only available drug for the treatment of ALS is Riluzole, which exerts little overall effects. Therefore ALS is currently an untreatable disease. A small proportion (5%) of patients develop the hereditary form of the disease known as familial ALS (FALS), 40% of which are associated with G4C2 hexanucleotide repeat expansion in the C9orf72 gene and 20% with mutations in the SOD1 (copper/zinc superoxide dismutase-1) gene. In addition, recently a mutation has been identified at position R199W in the DAO gene, accounting for less than 1% of FALS cases. The DAO gene encodes D-amino acid oxidase (DAO) protein, a peroxisomal flavin adenine dinucleotide (FAD)-dependent oxidase involved in degradation of D-amino acids. There have been reports indicating that DAO protein plays a crucial role in regulation of D-serine (a D-amino acid involved in neuronal signalling) in the central nervous system. The focus of this thesis was to investigate and establish the role of both mutant (DAOR199W) and wild type DAO proteins (DAOWT) in ALS pathology in terms of disease onset, disease progression and survival in a well-known model of ALS, the high copy number SOD1G93A mouse, through two large cohort survival studies. Thus, for the first survival study (cross of DAOR199W and SOD1G93A) we hypothesized that overexpression of the mutant allele exacerbates the ALS-like phenotypes, resulting in an earlier onset, accelerated progression and shorter lifespan in the double transgenic animals. Our data from this study showed that DAOR199W expression does not modify disease onset, progression and survival in the DAOR199W/SOD1G93A animals compared to their SOD1G93A littermates. The second survival study (cross of DAOWT and SOD1G93A) was designed based on reports of elevated levels of the D-serine in the spinal cord of ALS patients. Considering the high abundance of D-serine in the central nervous system and its ability to induce excitotoxicity, we hypothesized overexpression of the DAOWT enzyme results in a more rapid break down of D-serine, ameliorating the SOD1G93A phenotype by delaying disease onset, slowing down disease progression and prolonging survival in the double transgenics. Our results from this survival study indicate that overexpression of DAOWT at the cellular level does not effect disease onset but significantly delays the onset of neurological symptoms, slows down progression and prolongs survival in both sexes in the SOD1G93A/DAOWT animals, compared to their SOD1G93A littermates. In a separate approach we aimed to investigate the affect of two different murine IGF- I isoforms (IGF-IA and MGF), in in vivo models of ALS by means of an efficient method of gene delivery, electroporation of recombinant plasmid vectors. For this investigation we hypothesized treating SOD1G93A animals with IGF-I, results in slower disease progression and prolonged survival. Both vectors were successfully cloned, expressed in cell culture followed by in vivo electroporation. However there was insufficient time to test their therapeutic potential in the SOD1G93A mouse.
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Xu, Guang. "Identification of Novel Genetic Variations for Amyotrophic Lateral Sclerosis (ALS)." eScholarship@UMMS, 2018. https://escholarship.umassmed.edu/gsbs_diss/958.

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A list of genes have been identified to carry mutations causing familial ALS such as SOD1, TARDBP, C9orf72. But for sporadic ALS, which is 90% of all ALS cases, the underlying genetic variants are still largely unknown. There are multiple genome-wide association study (GWAS) for sporadic ALS, but usually a large number nominated SNP can hardly be replicated in larger cohort analysis. Also majority of GWAS SNP lie within noncoding region of genome, imposing a huge challenge to study their biological role in ALS pathology. With the rapid development of next-generation sequencing technology, we are able to sequence exome and whole-genome of a large number of ALS patients to search for novel genetic variants and their potential biological function. Here by analyzing exam data, we discovered two novel or extremely rare missense mutations of DPP6 from a Mestizo Mexican ALS family. We showed the two mutations could exert loss-of-function effect by affecting electrophysiological properties of Potassium channels as well as the membrane localization of DPP6. To our knowledge this is the first report of DPP6 nonsynonymous mutations in familial ALS patients. In addition, by analyzing whole-genome data, we discovered strong linkage disequilibrium between SNP rs12608932, a repeatedly significant ALS GWAS signal, and one polymorphic TGGA tetra-nucleotide tandem repeat, which is further flanked by large TGGA repetitive sequences. We also demonstrated rs12608932 risk allele is associated with reduced UNC13A expression level in human cerebellum and UNC13A knockout could lead to shorter survival in SOD1-G93A ALS mice. Thus the TGGA repeat might be the real underlying genetic variation that confer risk to sporadic ALS.
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Kasi, Patrick K. "Characterization of motor unit discharge rate in patients with amyotrophic lateral sclerosis." Worcester, Mass. : Worcester Polytechnic Institute, 2009. http://www.wpi.edu/Pubs/ETD/Available/etd-050409-062647/.

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Morimoto, Emiko. "The Role of Microglia in Amyotrophic Lateral Sclerosis: Analysis of MicroRNAs." Thesis, Harvard University, 2012. http://dissertations.umi.com/gsas.harvard:10155.

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Amyotrophic lateral sclerosis (ALS) is a progressive adult onset neurodegenerative disease characterized by selective death of the upper and lower motor neurons of the brain and spinal cord. Neuromuscular synapses are lost leading to paralysis and ultimately death. Non-neuronal cells, such as astrocytes, oligodendrocytes, and microglia, have been shown to contribute to ALS disease progression in mouse models. Microglia, the innate immune cells of the central nervous system, have been shown to be activated in ALS and contribute to disease progression. Hundreds of mRNAs have shown to be dysregulated in a variety of ALS cell types and tissues, including total spinal cord, acutely isolated microglia, and in vitro differentiated motor neurons. These mRNAs can be regulated post-transcriptionally by microRNAs (miRNAs), which are small endogenous non-coding RNAs with important regulatory roles in a wide range of cellular processes. This dissertation examines the contribution of miRNAs to ALS disease progression in microglia. I acutely isolated primary microglia from the spinal cords of transgenic mice overexpressing human wild type (WT) SOD1 and human G93A SOD1. I used small RNA sequencing to profile the miRNAs that are expressed during disease progression, and identified miRNAs that are differentially expressed. I confirmed these results by quantitative PCR and examined the expression changes of predicted targets in a microglia RNA-seq dataset. Here I show that miRNAs are dysregulated in acutely isolated microglia from SOD1 G93A transgenic mice, and that miR-155, a pro-inflammatory miRNA, and miR-210, a hypoxia-inducible miRNA, are significantly upregulated during disease progression. In addition, miR-1198-5p, miR-182, miR-503, and miR-668 are also dysregulated, and predicted mRNA targets of all six of these miRNAs are differentially expressed during disease progression. To my knowledge, this is the first analysis of miRNA expression in microglia during ALS disease progression. This work contributes to the understanding of the contribution of a non-neuronal cell type to ALS disease progression and serves as a paradigm for studies in other non-neuronal cell types, such as astrocytes and oligodendrocytes, and other ALS mouse models.
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Jacoby, Adam M. "The Role of Nitric Oxide and Nitroxidative Stress in Amyotrophic Lateral Sclerosis." Ohio University / OhioLINK, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=ohiou1273265480.

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Figueiredo, Joana Maria Serra de Oliveira Duarte. "The role of microRNAs in amyotrophic lateral sclerosis." Master's thesis, Faculdade de Ciências e Tecnologia, 2011. http://hdl.handle.net/10362/7991.

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Dissertação para obtenção do Grau de Mestre em Genética Molecular e Biomedicina
MicroRNAs (miRNAs) are emerging as a primary mediator of gene regulation in many different cell types. There is increasing evidence that specific subsets of miRNA play a prominent role in the nervous system, both in development and in specific neurodegenerative diseases. This study aims to elucidate the role of microRNA in selective motor neuron death that is the hallmark of amyotrophic Lateral sclerosis (ALS). Pre-symptomatic time-point was chosen since the levels of miRNAs are highly likely to be altered as a secondary consequence of cell injury and death in ALS. Laser capture microdissection (LCM) was used to study miRNA profiles in motor neurons of spinal cord tissue from SOD1G93A mice, the best characterized model of ALS. In preliminary work, using miRNA specific chips we have identified 2 miRNAs which are dramatically upregulated before disease onset. In this study, high RNA quality was achieved from laser captured cells, which consist in a major advance towards obtaining meaningful results of these miRNAs expression in downstream applications. Despite LCM technology has become increasingly sophisticated; rapidly obtaining enough amount of starting material for downstream applications is still extremely challenging. The combination of this optimized technique with microarrays, followed by RT-qPCR may provide insights into potential contribution of microRNAs to progression of neurodegeneration of motor neurons in ALS.
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Proudfoot, Malcolm. "Cortical neurophysiology of ALS." Thesis, University of Oxford, 2016. https://ora.ox.ac.uk/objects/uuid:5b8673f7-8eb2-4bf2-b3b8-d901fa134007.

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The experiments described in this thesis aimed to investigate the neurophysiological consequences, at the cortical level, of the neurodegenerative condition, amyotrophic lateral sclerosis (ALS). A principle tenet of this study was that ALS is, first and foremost, a disorder of the cortical motor system, the precise pathological mechanisms of which remain incompletely understood. Furthermore, the degree to which neurodegeneration can be evidenced before the onset of symptoms is thus far uncertain, and the optimal means by which to measure therapeutic response has yet to be determined. Chapter 1 introduces relevant key concepts in ALS and briefly summarises three studies completed in the early phases of pursuit for the above degree. These studies respectively considered presmyptomatic cellular ALS pathology, quantitation of disease progression and eyetracking assessment of cognitive dysfunction. Chapter 2 describes magnetoencephalography, the investigative technology utilised in the subsequent experimental chapter. In chapter 3, the effects of ALS on movement related modulation of neuronal oscillations are determined. An excessive peri-movement desynchronisation and delayed post-movement rebound was described. Functional connectivity between cortical regions at rest is appraised in chapter 4. ALS appeared to result in quite striking increases in functional connectivity, in keeping with the fMRI literature and in support of diminished intracortical inhibitory influences. The functional communication from the motor cortices is directly considered during active motor performance in chapter 5. ALS related reductions in beta-band coherence were noted in both corticospinal and inter- hemispheric communication. In conclusion, the results demonstrated considerable support for proposed excitotoxic disease mechanisms and were in alignment with reported findings in other neurodegenerative diseases. Finally, a pilot study by which the neural mechanisms for cognitive impairment in ALS are explored via antisaccade performance is described. While underpowered, the experimental design showed promise for future application.
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Burrell, Kathleen Ann. "The role of pathogenic SOD1 mutations in neuronal cell death in amyotrophic lateral sclerosis." Thesis, King's College London (University of London), 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.313992.

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Wootz, Hanna. "Amyotrophic Lateral Sclerosis – A Study in Transgenic Mice." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis, 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-7342.

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Books on the topic "ALS Amyotrophic"

1

Respiratory management of ALS: Amyotrophic lateral sclerosis. Sudbury, Mass: Jones and Bartlett, 2009.

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Guion, Lee. Respiratory management of ALS: Amyotrophic lateral sclerosis. Sudbury, Mass: Jones and Bartlett, 2010.

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Behind those eyes: Our journey with ALS. Renfrew, Ont: General Store Publishing House, 2013.

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ALS: Lou Gehrig's disease: Patient advocate. Riverside, CA: Health Scouter - Equity Press, 2009.

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author, Silverman Jennifer, and Holt Kim illustrator, eds. My dad has ALS? Place of publication not identified]: [Bookbaby], 2015.

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Stinton, William M. I choose to live: A journey through life with ALS. Gurnee, IL: Banbury Pub., 2003.

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Stinton, William M. I choose to live: A journey through life with ALS. Gurnee, IL: Banbury Pub., 2003.

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I choose to live: A journey through life with ALS. Gurnee, IL: Banbury Pub., 2003.

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Kaye, Dennis. Laugh, I thought I'd die: My life with ALS. Toronto: Penguin, 1993.

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ALS Registry Act: Report (to accompany H.R. 2295) (including cost estimate of the Congressional Budget Office). [Washington, D.C: U.S. G.P.O., 2007.

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Book chapters on the topic "ALS Amyotrophic"

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Iwata, M. "Severity Stages of ALS and Psychological Management." In Amyotrophic Lateral Sclerosis, 317–18. Boston, MA: Springer US, 1987. http://dx.doi.org/10.1007/978-1-4684-5302-7_47.

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Cesa-Bianchi, M., and F. Ravaccia. "Psychological Preparation of the Physician for ALS Patients." In Amyotrophic Lateral Sclerosis, 311–12. Boston, MA: Springer US, 1987. http://dx.doi.org/10.1007/978-1-4684-5302-7_45.

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Küther, G., A. Struppler, and H. G. Lipinski. "Therapeutic Trials in ALS — The Design of a Protocol." In Amyotrophic Lateral Sclerosis, 265–76. Boston, MA: Springer US, 1987. http://dx.doi.org/10.1007/978-1-4684-5302-7_38.

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Ferro, F. M., G. Riefolo, D. A. Nesci, and S. Mazza. "Psychodynamic Aspects in Patients with Amyotrophic Lateral Sclerosis (ALS)." In Amyotrophic Lateral Sclerosis, 313–16. Boston, MA: Springer US, 1987. http://dx.doi.org/10.1007/978-1-4684-5302-7_46.

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Norris, F. H., D. Holden, K. Kandal, and E. Stanley. "Home Nursing Care by Families for Severely Paralyzed ALS Patients." In Amyotrophic Lateral Sclerosis, 231–38. Boston, MA: Springer US, 1987. http://dx.doi.org/10.1007/978-1-4684-5302-7_35.

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Silani, V., A. Pizzuti, L. M. Redaelli, R. Bassani, I. R. Causarano, M. Buscaglia, G. Zuliani, and G. Scarlato. "ALS Cerebrospinal Fluid Enhances Human Foetal Astroglial Cell Proliferation in Vitro." In Amyotrophic Lateral Sclerosis, 79–81. Boston, MA: Springer US, 1987. http://dx.doi.org/10.1007/978-1-4684-5302-7_13.

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Pinelli, P., L. Mazzini, G. Mora, F. Pisano, and A. Villani. "A Follow-Up Electromyographic Investigation of ALS Patients Treated with High Dosage Gangliosides." In Amyotrophic Lateral Sclerosis, 285–90. Boston, MA: Springer US, 1987. http://dx.doi.org/10.1007/978-1-4684-5302-7_41.

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Conradi, S., and L. O. Ronnevi. "Immunoglobulin-Mediated Cytotoxic Effect of ALS-Plasma Towards Erythrocytes: Reflexion of a Pathogenetic Mechanism?" In Amyotrophic Lateral Sclerosis, 7–13. Boston, MA: Springer US, 1987. http://dx.doi.org/10.1007/978-1-4684-5302-7_2.

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Schieppati, M., A. Nardone, and M. Poloni. "Changes in the Normal Pattern of H-Reflex Inhibition During Muscle Release in ALS." In Amyotrophic Lateral Sclerosis, 155–58. Boston, MA: Springer US, 1987. http://dx.doi.org/10.1007/978-1-4684-5302-7_26.

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Iwata, M. "Clinico-Pathological Studies of Long Survival ALS Cases Maintained by Active Life-Support Measures." In Amyotrophic Lateral Sclerosis, 223–25. Boston, MA: Springer US, 1987. http://dx.doi.org/10.1007/978-1-4684-5302-7_33.

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Conference papers on the topic "ALS Amyotrophic"

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Aquino, Letícia, Juliana Victor dos Santos, Jaqueline Donola Scandoleira, Jéssica Elen Gonçalves Nascimento, and Letícia Moraes de Aquino. "Telerehabilitation in Amyotrophic Lateral Sclerosis." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.528.

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Introduction: Amyotrophic Lateral Sclerosis (ALS) is a progressive and degenerative motor disease of the nervous system. Symptoms are variable, the main one being muscle weakness. Treatment is based on medication and monitoring by a multidisciplinary team to maintain quality of life (QoL) and autonomy. There are barriers, like mobility, and telehealth (TH) can be a possibility of care. Objectives: To identify evidence of the use of TH in patients with ALS to improve symptoms and QoL. Design and settings: Study carried out at Centro Universitario São Camilo. Methodology: Literature review in the PubMed, Lilacs and PEDro, between 2011 and 2021, in Portuguese, English or Spanish, with “ALS”, “telemedicine”, “TH”. Results: Of the 14 studies found, 13 were selected after review. The majority (93%) made use of video and telephone calls for monitoring and new orientations, after face-to-face evaluation; but all showed the possibility of remote assessment, associated or no with technological resources (such apps, accelerometers, smartwatches). 31% of the studies reported indication of TH for respiratory care in critically ill patients. In general, 93% of the papers demonstrated that TH brought benefits in maintaining QoL and improving respiratory parameters. Conclusion: Use of TH in patients with ALS seems to be to viable, safe and beneficial for assessment and monitoring, especially in advanced stages and for respiratory symptoms.
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Norel, Raquel, Mary Pietrowicz, Carla Agurto, Shay Rishoni, and Guillermo Cecchi. "Detection of Amyotrophic Lateral Sclerosis (ALS) via Acoustic Analysis." In Interspeech 2018. ISCA: ISCA, 2018. http://dx.doi.org/10.21437/interspeech.2018-2389.

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CUVELIER, Antoine, Elodie BARBARE, Catherine TARDIF, François SALACHAS, Didier HANNEQUIN, and Jean-François MUIR. "Predictive Factors Of Hypoventilation During Amyotrophic Lateral Sclerosis (ALS)." In American Thoracic Society 2010 International Conference, May 14-19, 2010 • New Orleans. American Thoracic Society, 2010. http://dx.doi.org/10.1164/ajrccm-conference.2010.181.1_meetingabstracts.a3060.

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Goupille, P., S. Bouillon, P. Corcia, J. Brunais-Besse, S. Quennesson, and JP Valat. "THU0226 Amyotrophic lateral sclerosis (als): a trap for the rheumatologist." In Annual European Congress of Rheumatology, Annals of the rheumatic diseases ARD July 2001. BMJ Publishing Group Ltd and European League Against Rheumatism, 2001. http://dx.doi.org/10.1136/annrheumdis-2001.758.

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Marogna, M., and N. Balletto. "OP75 The decision making capacity in amyotrophic lateral sclerosis (ALS)." In ACP-I Congress Abstracts. British Medical Journal Publishing Group, 2019. http://dx.doi.org/10.1136/spcare-2019-acpicongressabs.75.

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Polverino, Francesca, Carlo Santoriello, Domenico Giannattasio, Filippo Andò, Andreas Jahn, Jose Luis Valera, Concetta De Rosa, Giuseppe Girbino, and Mario Polverino. "Respiratory Drive In Patients Affected By Amyotrophic Lateral Sclerosis (ALS)." In American Thoracic Society 2010 International Conference, May 14-19, 2010 • New Orleans. American Thoracic Society, 2010. http://dx.doi.org/10.1164/ajrccm-conference.2010.181.1_meetingabstracts.a4204.

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Tse, Zion Tsz Ho, Alexander Squires, and John Oshinski. "Robot for MRI-Guided ALS Spinal Therapy." In 2017 Design of Medical Devices Conference. American Society of Mechanical Engineers, 2017. http://dx.doi.org/10.1115/dmd2017-3527.

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Limited treatment options are available for treating Amyotrophic Lateral Sclerosis (ALS) (1). Small animal models have shown promise in halting neurodegeneration associated with ALS where cellular therapeutics are delivered to the ventral horn of the spinal cord (2), although this procedure is invasive and requires multi-level laminectomy and dissection of the dura mater (Fig. 1). We hypothesized that SpinoBof, a robotic needle guidance platform (Fig. 2) could deliver cellular therapeutics to the ventral horn percutaneously under MRI guidance, enhancing upon existing invasive and time-consuming techniques for targeting injection sites.
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Ciorba, Cristina, Maria Luz Alonso Alvarez, Estrella Ordax Carbajo, Rodrigo delaRosa Giménez, Lourdes Martin Viñe, Maria Jose Bello Sebastian, Nieves Manchado Garcia, Montserrat Pamiés Solé, and Joaquin Terán Santos. "NIV (Non Invasive Ventilation) criteria and Amyotrophic Lateral Sclerosis (ALS) Survival." In ERS International Congress 2017 abstracts. European Respiratory Society, 2017. http://dx.doi.org/10.1183/1393003.congress-2017.pa2151.

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Fernandes Palheiros Conde, Bebiana Da Conceição, Natália Martins, Elsa Matos, Inês Rodrigues, and João Carlos Winck. "Ventilatory support criteria in Amyotrophic Lateral Sclerosis (ALS) patients and outcomes." In ERS/ESRS Sleep and Breathing Conference 2019 abstracts. European Respiratory Society, 2019. http://dx.doi.org/10.1183/23120541.sleepandbreathing-2019.p25.

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Viccaro, F., L. D'Antoni, M. E. Cardini, R. Flore, C. Tomsa, A. Lecci, A. Tramontano, and P. Palange. "Assessing diaphragm function by ultrasound in amyotrophic lateral sclerosis (ALS) patients." In ERS Respiratory Failure and Mechanical Ventilation Conference 2022 abstracts. European Respiratory Society, 2022. http://dx.doi.org/10.1183/23120541.rfmvc-2022.35.

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Reports on the topic "ALS Amyotrophic"

1

Wackerman, Brooke L., B. L. Cox, K. L. Grayson, Shari L. Shanklin, and Wilson W. McGriff. Case Series Investigation of Amyotrophic Lateral Sclerosis (ALS) Among Former Kelly Air Force Base Workers. Fort Belvoir, VA: Defense Technical Information Center, April 2005. http://dx.doi.org/10.21236/ada437518.

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Zhu, Qiaochu, Jin Zhou, Hai Huang, Jie Han, Biwei Cao, Dandan Xu, Yan Zhao, and Gang Chen. Risk factors associated with amyotrophic lateral sclerosis: a protocol for systematic review and meta-analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, September 2022. http://dx.doi.org/10.37766/inplasy2022.9.0118.

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Review question / Objective: To identify and list the risk factors associated with the onset and progression of ALS. Condition being studied: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting the upper and lower motor neurons in the spinal bulb, cerebral cortex, and spinal cord. The clinical processing symptoms accompany muscle atrophy, fasciculation, and fatigue of limbs, which can lead to general paralysis and death from respiratory failure within 3-5 years after the onset of this disease. Though the pathogenesis of ALS is still unclear, exploring the associations between risk factors and ALS can provide reliable evidence to find the pathogenesis in the future. This meta-analysis aims to synthesize all related risk factors on ALS, comprehensively understand this disease, and provide clues to mechanism research and clinicians.
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