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611 results for “AMYOTROPHIC LATERAL SCLEROSIS”
Short tandem repeat expansions in LRP12 are absent in familial and sporadic amyotrophic lateral sclerosis patients of European ancestry
<p>In patients of Asian ancestry, a heterozygous CGG repeat expansion of >100 units in <i>LRP12</i> is the cause of oculopharyngodistal myopathy type 1 (OPDM1), and has been associated with amyotrophic lateral sclerosis (ALS) when repeat lengths are between 61-100 units, although with unusually long disease duration and without significant upper motor neuron involvement. This study investigated if <i>LRP12</i> CGG tandem repeats were expanded in ALS patients of European ancestry. We screened whole-genome sequencing data from 608 sporadic ALS patients, 35 familial ALS probands, and 4,703 neurologically normal controls for the <i>LRP12</i> CGG expansion using ExpansionHunter v4. All individuals had <i>LRP12 </i>CGG repeat lengths between 3-25 units. Our results suggest that <i>LRP12 </i>CGG repeat expansions may only be present in ALS patients of Asian ancestry with atypical clinical presentations.</p>
Extended data 'It's become a theatre': relational experiences of family carers and people with Amyotrophic lateral sclerosis (ALS) after cognitive impairment emerges [Version 2]
<p>This upload contains suplimentary files to the research article ‘It’s become a theatre’: relational experiences of family carers and people with Amyotrophic lateral sclerosis (ALS) after cognitive impairment emerges [Version 2]</p>
Data Report: Educational Pathway on Food and Nutrition in Amyotrophic Lateral Sclerosis on the AVASUS platform
<p><strong>Dataset name:</strong><em> nutri_als_dataset.csv </em></p> <p><strong>Version: </strong>1.0 </p> <p><strong>Dataset period:</strong> 06/01/2021 - 06/05/2024</p> <p><strong>Dataset Characteristics: </strong>Multivalued </p> <p><strong>Number of Instances: </strong>20967</p> <p><strong>Number of Attributes: </strong>9</p> <p><strong>Missing Values: </strong>Yes</p> <p><strong>Area(s): </strong>Health and education<strong> </strong></p> <p><strong>Sources: </strong></p> <ul> <li>Virtual Learning Environment of the Brazilian Health System (AVASUS) (Brasil, 2024a);</li> <li>Brazilian Occupational Classification (CBO) (Brasil, 2024b);</li> <li>National Registry of Health Establishments (CNES) (Brasil, 2024c); </li> <li>Brazilian Institute of Geography and Statistics (IBGE) (Brasil, 2024d). </li> </ul> <p><strong>Description</strong>:<strong> </strong>The “nutri_als_dataset.csv” dataset (see Table 1) originates from participants of the educational pathway on Food and Nutrition in Amyotrophic Lateral Sclerosis. The educational pathway is available on the AVASUS (Brasil, 2024a). This dataset provides elementary data to analyze the scope of the educational pathway courses and the profile of their participants.</p> <p><br><strong>Note</strong>: The content of the dataset is provided in Brazilian Portuguese (pt-br), as it originates from native speakers.</p> <p><strong>Table 1: </strong>Description of AVASUS dataset features. </p> <div> <table> <tbody> <tr> <td> <p><strong>Attributes </strong></p> </td> <td> <p><strong>Description </strong></p> </td> <td> <p><strong>Datatype </strong></p> </td> <td> <p><strong>Value</strong></p> </td> </tr> <tr> <td> <p><strong>user_id</strong></p> </td> <td> <p>Unique identifier for a person (anonymous).</p> </td> <td> <p>Categorical</p> </td> <td> <p>Person unique identifier.</p> </td> </tr> <tr> <td> <p><strong>course_enrollment</strong></p> </td> <td> <p>Course enrollment period.</p> </td> <td> <p>Datetime </p> </td> <td> <p>year-month-day.</p> </td> </tr> <tr> <td> <p><strong>course_name</strong></p> </td> <td> <p>Name in Portuguese referring to the course.</p> </td> <td> <p>Categorical</p> </td> <td> <ul> <li> <p>Alimentação por sonda na ELA;</p> </li> <li> <p>Alimentação e Nutrição na ELA;</p> </li> <li> <p>Orientações nutricionais específicas na ELA; or</p> </li> <li> <p>Modificações Dietéticas na ELA.</p> </li> </ul> </td> </tr> <tr> <td> <p><strong>certificate</strong></p> </td> <td> <p>The period in which the course participant obtained the right to a certificate.</p> </td> <td> <p>Datetime</p> </td> <td> <p>year-month-day hours, minutes, and seconds.</p> </td> </tr> <tr> <td> <p><strong>gender </strong></p> </td> <td> <p>Gender of the course participant. </p> </td> <td> <p>Categorical</p> </td> <td> <ul> <li> <p>Female;</p> </li> <li> <p>Male; or</p> </li> <li> <p>Not informed.</p> </li> </ul> </td> </tr> <tr> <td> <p><strong>region</strong></p> </td> <td> <p>Brazilian region in which the participant resides.</p> </td> <td> <p>Categorical</p> </td> <td> <ul> <li> <p>North;</p> </li> <li> <p>Northeast;</p> </li> <li> <p>Central-West;</p> </li> <li> <p>Southeast;</p> </li> <li> <p>South;</p> </li> <li> <p>Abroad; or</p> </li> <li> <p>Not reported.</p> </li> </ul> </td> </tr> <tr> <td> <p><strong>course_evaluation</strong></p> </td> <td> <p>A score given to the course by the participant. </p> </td> <td> <p>Numerical</p> </td> <td> <p>0, 1, 2, 3, 4, 5, or NaN.</p> </td> </tr> <tr> <td> <p><strong>evaluation_commentary</strong></p> </td> <td> <p>Comment made by the participant about the course.</p> </td> <td> <p>Categorical</p> </td> <td> <p>Free text or NaN.</p> </td> </tr> <tr> <td> <p><strong>CBO</strong></p> </td> <td> <p>Participant occupation.</p> </td> <td> <p>Categorical</p> </td> <td> <p>Text coded according to the Brazilian Classification of Occupations or “Indivíduo sem filiação formal.” (In English, “Individual without formal affiliation.”)</p> </td> </tr> </tbody> </table> </div> <p> </p> <p> </p> <p><strong>REFERENCES</strong></p> <p>Brasil (2024a). AVASUS - Virtual Learning Environment of the Brazilian Health System. Available from: <a href="https://avasus.ufrn.br/local/avasplugin/dashboard/transparencia.php">https://avasus.ufrn.br/local/avasplugin/dashboard/transparencia.php</a>. Accessed Jul 21, 2024.</p> <p>Brasil (2024b). CBO - classificação brasileira de ocupações. Available from: <a href="https://cbo.mte.gov.br/cbosite/pages/home.jsf">https://cbo.mte.gov.br/cbosite/pages/home.jsf</a>. Accessed Jul 21, 2024.</p> <p>Brasil (2024c). CNES - cadastro nacional de estabelecimentos de saúde. Available from: <a href="https://cnes.datasus.gov.br/">https://cnes.datasus.gov.br/</a>. Accessed Jul 21, 2024.</p> <p>Brasil (2024d). IBGE - Instituto Brasileiro de Geografia e Estatística. Estimativas da População. Available from: <a href="https://agenciadenoticias.ibge.gov.br/agencia-noticias/2012-agencia-de-noticias/noticias/39525-censo-2022-informacoes-de-populacao-e-domicilios-por-setores-censitarios-auxiliam-gestao-publica">https://agenciadenoticias.ibge.gov.br/agencia-noticias/2012-agencia-de-noticias/noticias/39525-censo-2022-informacoes-de-populacao-e-domicilios-por-setores-censitarios-auxiliam-gestao-publica</a>. Accessed Jul 21, 2024.</p> <p> </p> <p><strong>ARTICLE:</strong></p> <p>Data Report: Educational Pathway on Food and Nutrition in Amyotrophic Lateral Sclerosis on the AVASUS platform <br> </p> <p><strong>AUTHORS:</strong></p> <p>Karla M. D. Coutinho<sup>1,2</sup>, Felipe Fernandes<sup>2</sup>, Kelson C. Medeiros<sup>2,6</sup>, Karilany D. Coutinho<sup>2,4,5</sup>, Aline de Pinho Dias<sup>2,4</sup>, Ricardo A. M. Valentim<sup>2,4,5</sup>, Lúcia Leite-Lais<sup>3</sup>, Kenio Costa Lima1</p> <p> </p> <p><sup>1</sup>Postgraduate Program in Health Sciences, Federal University of Rio Grande do Norte, Natal, Brazil</p> <p><sup>2</sup>Laboratory of Technological Innovation in Health (LAIS), Federal University of Rio Grande do Norte (UFRN), Natal, Rio Grande do Norte, Brazil </p> <p><sup>3</sup>Department of Nutrition, Federal University of Rio Grande do Norte, Natal, Brazil</p> <p><sup>4</sup>Postgraduate Program in Management and Innovation in Health, Federal University of Rio Grande do Norte, Natal, Brazil</p> <p><sup>5</sup>Department of Biomedical Engineering, Federal University of Rio Grande do Norte, Natal, Brazil</p> <p><sup>6</sup>Federal Institute of Education, Science and Technology of Rio Grande do Norte, Natal, Brazil</p> <p> </p> <p> </p>
Dataset related to article "Decoding distinctive features of plasma extracellular vesicles in amyotrophic lateral sclerosis"
<p>The mass spectrometry proteomics data have been deposited at the ProteomeXchange Consortium (<a href="http://proteomecentral.proteomexchange.org/cgi/GetDataset">http://proteomecentral.proteomexchange.org/cgi/GetDataset</a>) via the PRIDE partner repository with the data set identifier PXD020629.</p>
Datset related to article "DUPLICATION OF EXONS 15 AND 16 IN MATRIN-3: A PHENOTYPE BRIDGING AMYOTROPHIC LATERAL SCLEROSIS AND IMMUNE-MEDIATED DISORDERS"
<p><strong>NGS analysis performed at Fondazione Besta carried out as part of the study reported at title </strong></p>
Datset related to article "G507D MUTATION IN FUS GENE CAUSES FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS WITH A SPECIFIC GENOTYPE-PHENOTYPE CORRELATION"
<p><strong>NGS_analysis performed at Fondazione Besta carried out as part of the study reported at title</strong></p>
Dataset related to article"G507D MUTATION IN FUS GENE CAUSES FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS WITH A SPECIFIC GENOTYPE-PHENOTYPE CORRELATION"
<p>NGS Analyses of patients included in the study reported at title followed at Fondazione Besta</p>
Phase 2 Study for SAR443820 in Participants With Amyotrophic Lateral Sclerosis (ALS)
ClinicalTrials.gov study NCT05237284. IPD Sharing: YES. Countries: 13. Publications: 1.
Altered mitochondria-associated ER membranes (MAM) function shifts mitochondrial metabolism in amyotrophic lateral sclerosis (ALS)
<p><span>Mitochondrial function is modulated by its functional interaction with the endoplasmic reticulum.</span><span> Recent research indicates that these contacts are disrupted in familial models of amyotrophic lateral sclerosis. We report here this impairment in the crosstalk between mitochondria and the endoplasmic reticulum impedes the use of glucose-derived pyruvate as mitochondrial fuel, causing a shift to fatty acids to sustain energy production. Over time, this deficiency alters mitochondrial electron flow and the active/dormant status of complex I in spinal cord tissues, but not in the brain. These findings suggest MAM plays a crucial role in regulating cellular glucose metabolism and that its dysfunction may underlie the bioenergetic deficits observed in ALS. The dataset includes the lipid profiles of the total homogenates and motchondrial fractions from SOD1.</span></p>
DATASET RELATED TO ARTICLE "MISSENSE MUTATION IN ATXN2 GENE (C.2860C > T) IN AN AMYOTROPHIC LATERAL SCLEROSIS PATIENT WITH AGGRESSIVE DISEASE PHENOTYPE"
<p><strong>NGS_analysis PERFORMED AT fONDAZIONE BESTA AND CARRIED OUT AS PART OF THE STUDY MENTIONED AT TITLE</strong></p>
Effects of Oral Levosimendan on Respiratory Function in Patients With Amyotrophic Lateral Sclerosis (ALS): Open-Label Extension
ClinicalTrials.gov study NCT03948178. IPD Sharing: Not stated. Countries: 14. Publications: 1.
HERV-K Suppression Using Antiretroviral Therapy in Volunteers With Amyotrophic Lateral Sclerosis (ALS)
ClinicalTrials.gov study NCT02437110. IPD Sharing: UNDECIDED. Countries: 1. Publications: 3.
Study of Ozanezumab (GSK1223249) Versus Placebo in the Treatment of Amyotrophic Lateral Sclerosis
ClinicalTrials.gov study NCT01753076. IPD Sharing: Not stated. Countries: 11. Publications: 1.
Safety and Efficacy Study of Autologous Bone Marrow Derived Stem Cell Treatment in Amyotrophic Lateral Sclerosis
ClinicalTrials.gov study NCT01363401. IPD Sharing: NO. Countries: 1. Publications: 5.
Safety Extension Study of Oral Edaravone Administered in Subjects With Amyotrophic Lateral Sclerosis (ALS)
ClinicalTrials.gov study NCT04577404. IPD Sharing: UNDECIDED. Countries: 6. Publications: 1.
FUSION: A Study to Evaluate the Efficacy, Safety, Pharmacokinetics and Pharmacodynamics of ION363 in Amyotrophic Lateral Sclerosis Participants With Fused in Sarcoma Mutations (FUS-ALS)
ClinicalTrials.gov study NCT04768972. IPD Sharing: YES. Countries: 16. Publications: 1.
Study to Evaluate DNL747 in Subjects With Amyotrophic Lateral Sclerosis
ClinicalTrials.gov study NCT03757351. IPD Sharing: YES. Countries: 2. Publications: 1.
Efficacy and Safety of Plasma Exchange With Albumin in Patients With Amyotrophic Lateral Sclerosis
ClinicalTrials.gov study NCT02479802. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Neurodegenerative Alzheimer's Disease and Amyotrophic Lateral Sclerosis (NADALS) Basket Trial
ClinicalTrials.gov study NCT05189106. IPD Sharing: YES. Countries: 1. Publications: 2.
Clinical Pharmacology Study of Oral Edaravone in Amyotrophic Lateral Sclerosis Patients With Gastrostomy
ClinicalTrials.gov study NCT04254913. IPD Sharing: UNDECIDED. Countries: 1. Publications: 1.
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