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Phenotype profile

amyotrophic lateral sclerosis

SaudiVarKB evidence summary derived from retained literature mentions.

86Phenotype mentions
86Publications
29Associated gene records
16Associated variant records

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
SOD1HGNC:111791616
C9orf72HGNC:2833788
FUSHGNC:401066
TARDBPHGNC:1157144
OPTNHGNC:1714233
APOEHGNC:61322
TBK1HGNC:1158422
SIRT1HGNC:1492911
BDNFHGNC:103311
TTRHGNC:1240511
CYP2D6HGNC:262511
IGF1HGNC:546411
PINK1HGNC:1458111
CTNNB1HGNC:251411
AKT1HGNC:39111
HTTHGNC:485111
SMCR8HGNC:1792111
RIOK2HGNC:1899911
MBPHGNC:692511
SIGMAR1HGNC:815711
ALS2HGNC:44311
CCL2HGNC:1061811
CHRNA1HGNC:195511
DLG5HGNC:290411
SPTLC1HGNC:1127711
RCC1HGNC:191311
PLA2G4CHGNC:903711
ZNF512BHGNC:2921211
GLE1HGNC:431511

Associated variant records

Co-mentioned in the same publications
VariantIdentifier / contextArticlesMentions
p.Val142Ilep.Val142Ile11
I525TI525T11
c.2761C>Tc.2761C>T11
p.R921Xp.R921X11
D84ND84N11
G73CG73C11
H72YH72Y11
P67AP67A11
P67RP67R11
P67SP67S11
R144GR144G11
S60IS60I11
p.Ala20Serp.Ala20Ser11
p.Ser331Tyrp.Ser331Tyr11
S174XS174X11
p.S174Xp.S174X11

Associated population records

Co-mentioned in the same publications
PopulationIdentifier / contextArticlesMentions
Population record22
Saudi Arabia11
Saudi Arabia11
Saudi ArabiaCohort 2411
Saudi ArabiaCohort 3211
Population recordCohort 15511
Saudi ArabiaCohort 27011
Population recordCohort 6611

Supporting publications

86 records
  1. 2026Unraveling the molecular mechanisms of ALS: a network biology and structural modeling approach of investigating the impact of C9orf72 mutations.Journal of biomolecular structure & dynamics1 mentions
  2. 2026Investigating the impact of SOD1 mutations on amyotrophic lateral sclerosis progression and potential drug repurposing through in silico analysis.Journal of biomolecular structure & dynamics1 mentions
  3. 2026The gut-brain axis: role of gut microbiota in neurological disease pathogenesis and pharmacotherapeutics.Naunyn-Schmiedeberg's archives of pharmacology1 mentions
  4. 2026Amyotrophic lateral sclerosis in Saudi Arabia: a multicenter descriptive study.Amyotrophic lateral sclerosis & frontotemporal degeneration1 mentions
  5. 2026Adenosine A₂A receptor as a dual-acting molecular switch: Glial morphological changes and neurovascular tissue remodeling in neuroinflammation and neurodegeneration.Tissue & cell1 mentions
  6. 2026Amyotrophic Lateral Sclerosis (ALS) Genetics and Microbiota: A Comprehensive Review.International journal of molecular sciences1 mentions
  7. 2026Advancement in therapeutic application of quantum dots in amyotrophic lateral sclerosis: current opportunities and challenges.Drug delivery and translational research1 mentions
  8. 2026Hereditary transthyretin amyloidosis mimicking ALS: First genetically proven case report from Saudi Arabia.eNeurologicalSci1 mentions
  9. 2026A framework for the exploration of subcellular compartmentalization of RNA-binding proteins.Nature communications1 mentions
  10. 2026miRNAs in Amyotrophic Lateral Sclerosis: Tiny Molecules, Tremendous Impact.Molecular neurobiology1 mentions
  11. 2026Exosomal miRNA in cerebrospinal fluid as biomarkers for neurodegenerative disease.Clinica chimica acta; international journal of clinical chemistry1 mentions
  12. 2026Exosome-mediated gut-brain axis signaling in neurodegenerative diseases: Mechanisms, experimental evidence, and therapeutic perspectives-A narrative review.Animal models and experimental medicine1 mentions
  13. 2026ZNF512B safeguards genome integrity at regulatory regions to repress the SASP and inflammation.Cell stem cell1 mentions
  14. 2025Comprehensive mapping of mutations in TDP-43 and α-Synuclein that affect stability and binding.Journal of biomolecular structure & dynamics1 mentions
  15. 2025Molecular mechanisms and biomarkers in neurodegenerative disorders: a comprehensive review.Molecular biology reports1 mentions
  16. 2025Discovering Novel Biomarkers and Potential Therapeutic Targets of Amyotrophic Lateral Sclerosis Through Integrated Machine Learning and Gene Expression Profiling.Journal of molecular neuroscience : MN1 mentions
  17. 2025NanoBiT-based Analysis of Canine SOD1 Protein Dynamics: Understanding the Role of CCS and Ebselen Derivatives as Potential Therapeutics for Canine Degenerative Myelopathy.Cell biochemistry and biophysics1 mentions
  18. 2025Advances in alginate-based nanoformulations: Innovative and effective strategies for targeting and treating brain disorders.International journal of pharmaceutics1 mentions
  19. 2025Extreme exercise in males is linked to mTOR signalling and onset of amyotrophic lateral sclerosis.Brain : a journal of neurology1 mentions
  20. 2025Emerging biomarkers in amyotrophic lateral sclerosis: from pathogenesis to clinical applications.Frontiers in molecular biosciences1 mentions
  21. 2025Decoding the Dialogue: Immunity and central nervous system interactions in neurodegenerative diseases.The Egyptian journal of immunology1 mentions
  22. 2025Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series.The Lancet. Neurology1 mentions
  23. 2025The CCL2-CCR2 axis drives neuromuscular denervation in amyotrophic lateral sclerosis.Nature communications1 mentions
  24. 2025Aggregation-Prone Pathogenic SOD1 Variants in Amyotrophic Lateral Sclerosis: Insights from Computational Genomics and Evolutionary Conservation.Journal of molecular neuroscience : MN1 mentions
  25. 2025CRISPR/Cas9 a genomic engineering technology for treatment in ALS mouse models.Regenerative therapy1 mentions
  26. 2025FUS-related amyotrophic lateral sclerosis-frontotemporal dementia and links to the DNA damage response: a systematic review.Frontiers in molecular neuroscience1 mentions
  27. 2025Exploring TANK-Binding Kinase 1 in Amyotrophic Lateral Sclerosis: From Structural Mechanisms to Machine Learning-Guided Therapeutics.Life (Basel, Switzerland)1 mentions
  28. 2024Multifunctional Nanocarriers for Alzheimer's Disease: Befriending the Barriers.Molecular neurobiology1 mentions
  29. 2024Oxidative stress and ion channels in neurodegenerative diseases.Frontiers in physiology1 mentions
  30. 2024Cannabidiol and neurodegeneration: From molecular mechanisms to clinical benefits.Ageing research reviews1 mentions
  31. 2024Intellectual assessment of amyotrophic lateral sclerosis using deep resemble forward neural network.Neural networks : the official journal of the International Neural Network Society1 mentions
  32. 2024Molecular mechanisms and antisense oligonucleotide therapies of familial amyotrophic lateral sclerosis.Molecular therapy. Nucleic acids1 mentions
  33. 2024Multiple sclerosis and amyotrophic lateral sclerosis: is there an association or a red flag? A case report and literature review.BMC neurology1 mentions
  34. 2024The role of sirtuin 1 in ageing and neurodegenerative disease: A molecular perspective.Ageing research reviews1 mentions
  35. 2024A Review of Biomarkers of Amyotrophic Lateral Sclerosis: A Pathophysiologic Approach.International journal of molecular sciences1 mentions
  36. 2024Recent advances in stem cell therapy: efficacy, ethics, safety concerns, and future directions focusing on neurodegenerative disorders - a review.International journal of surgery (London, England)1 mentions
  37. 2024Pharmacogenomics for neurodegenerative disorders - a focused review.Frontiers in pharmacology1 mentions
  38. 2024Mechanisms and Potential Benefits of Neuroprotective Agents in Neurological Health.Nutrients1 mentions
  39. 2023Boosting Mitochondrial Potential: An Imperative Therapeutic Intervention in Amyotrophic Lateral Sclerosis.Current neuropharmacology1 mentions
  40. 2023Mitochondrial Dysfunction as a Signaling Target for Therapeutic Intervention in Major Neurodegenerative Disease.Neurotoxicity research1 mentions
  41. 2023Integrated Omic Analysis Delineates Pathways Modulating Toxic TDP-43 Protein Aggregates in Amyotrophic Lateral Sclerosis.Cells1 mentions
  42. 2023Mitochondrial dysfunction and oxidative stress in Alzheimer's disease, and Parkinson's disease, Huntington's disease and Amyotrophic Lateral Sclerosis -An updated review.Mitochondrion1 mentions
  43. 2023Neuromuscular junction denervation and terminal Schwann cell loss in the hTDP-43 overexpression mouse model of amyotrophic lateral sclerosis.Neuropathology and applied neurobiology1 mentions
  44. 2023Caenorhabditis elegans: A transgenic model for studying age-associated neurodegenerative diseases.Ageing research reviews1 mentions
  45. 2023Mesenchymal Stem Cell-Derived Extracellular Vesicles: An Emerging Diagnostic and Therapeutic Biomolecules for Neurodegenerative Disabilities.Biomolecules1 mentions
  46. 2023The microRNAs (miRs) overexpressing mesenchymal stem cells (MSCs) therapy in neurological disorders; hope or hype.Biotechnology progress1 mentions
  47. 2023Unveiling promising inhibitors of superoxide dismutase 1 (SOD1) for therapeutic interventions.International journal of biological macromolecules1 mentions
  48. 2023CRISPR-Cas9 guided rna based model for the treatment of Amyotrophic Lateral Sclerosis: A progressive neurodegenerative disorder.Acta biochimica Polonica1 mentions
  49. 2023A computational biology approach to identify potential protein biomarkers and drug targets for sporadic amyotrophic lateral sclerosis.Cellular signalling1 mentions
  50. 2022Small junction, big problems: Neuromuscular junction pathology in mouse models of amyotrophic lateral sclerosis (ALS).Journal of anatomy1 mentions
  51. 2022The Role of Mitochondrial Genes in Neurodegenerative Disorders.Current neuropharmacology1 mentions
  52. 2022Gene Therapy Approach with an Emphasis on Growth Factors: Theoretical and Clinical Outcomes in Neurodegenerative Diseases.Molecular neurobiology1 mentions
  53. 2022DNA Methylation: A Promising Approach in Management of Alzheimer's Disease and Other Neurodegenerative Disorders.Biology1 mentions
  54. 2022Involvement of molecular chaperone in protein-misfolding brain diseases.Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie1 mentions
  55. 2022Atypical Familial Amyotrophic Lateral Sclerosis Secondary to Superoxide Dismutase 1 Gene Mutation With Coexistent Axonal Polyneuropathy: A Challenging Diagnosis.Cureus1 mentions
  56. 2022Protective effects of apigenin on methylmercury-induced behavioral/neurochemical abnormalities and neurotoxicity in rats.Human & experimental toxicology1 mentions
  57. 2022Activation of IGF-1/GLP-1 Signalling via 4-Hydroxyisoleucine Prevents Motor Neuron Impairments in Experimental ALS-Rats Exposed to Methylmercury-Induced Neurotoxicity.Molecules (Basel, Switzerland)1 mentions
  58. 2022Frustration analysis of TBK1 missense mutations reported in ALS/FTD and cancer patients.3 Biotech1 mentions
  59. 2022Ceftriaxone as a Novel Therapeutic Agent for Hyperglutamatergic States: Bridging the Gap Between Preclinical Results and Clinical Translation.Frontiers in neuroscience1 mentions
  60. 2022Focusing the pivotal role of nanotechnology in Huntington's disease: an insight into the recent advancements.Environmental science and pollution research international1 mentions
  61. 2022Stem-Cell-Based Therapy: The Celestial Weapon against Neurological Disorders.Cells1 mentions
  62. 2021Deciphering the Role of Aberrant Protein Post-Translational Modification in the Pathology of Neurodegeneration.CNS & neurological disorders drug targets1 mentions
  63. 2021Targeting Adenosine Receptors in Neurological Diseases.Cellular reprogramming1 mentions
  64. 2021A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay.Neurobiology of aging1 mentions
  65. 2021Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.JAMA neurology1 mentions
  66. 2021Recurrence eigenvalues of movements from brain signals.Brain informatics1 mentions
  67. 2021Delineating the Aggregation-Prone Hotspot Regions (Peptides) in the Human Cu/Zn Superoxide Dismutase 1.ACS omega1 mentions
  68. 2020Revisiting the blood-brain barrier: A hard nut to crack in the transportation of drug molecules.Brain research bulletin1 mentions
  69. 2020Oligodendrocyte pathology exceeds axonal pathology in white matter in human amyotrophic lateral sclerosis.The Journal of pathology1 mentions
  70. 2020Frequency and methylation status of selected retrotransposition competent L1 loci in amyotrophic lateral sclerosis.Molecular brain1 mentions
  71. 2018Biomechanistic insights into the roles of oxidative stress in generating complex neurological disorders.Biological chemistry1 mentions
  72. 2018Potential Application of Venom Proteins in Designing of Medicines for Treating Human Neurodegenerative Disorders.Protein and peptide letters1 mentions
  73. 2018Recent Status of Nanomaterial Fabrication and Their Potential Applications in Neurological Disease Management.Nanoscale research letters1 mentions
  74. 2018From Mouse Models to Human Disease: An Approach for Amyotrophic Lateral Sclerosis.In vivo (Athens, Greece)1 mentions
  75. 2018Chronic Traumatic Encephalopathy Within an Amyotrophic Lateral Sclerosis Brain Bank Cohort.Journal of neuropathology and experimental neurology1 mentions
  76. 2017Organophosphate neurotoxicity to the voluntary motor system on the trail of environment-caused amyotrophic lateral sclerosis: the known, the misknown, and the unknown.Archives of toxicology1 mentions
  77. 2016Deficiency in the mRNA export mediator Gle1 impairs Schwann cell development in the zebrafish embryo.Neuroscience1 mentions
  78. 2016Monomelic amyotrophy with proximal upper limb involvement: a case report.Journal of medical case reports1 mentions
  79. 2016Seeking environmental causes of neurodegenerative disease and envisioning primary prevention.Neurotoxicology1 mentions
  80. 2015Current Update on Synopsis of miRNA Dysregulation in Neurological Disorders.CNS & neurological disorders drug targets1 mentions
  81. 2015Implication of Caspase-3 as a Common Therapeutic Target for Multineurodegenerative Disorders and Its Inhibition Using Nonpeptidyl Natural Compounds.BioMed research international1 mentions
  82. 2014Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T.Gene1 mentions
  83. 2014The role of viruses in neurodegenerative and neurobehavioral diseases.CNS & neurological disorders drug targets1 mentions
  84. 2011A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis.Annals of neurology1 mentions
  85. 2006The X-linked adrenoleukodystrophy (X-ALD) and oxidative stress.Journal of herbal pharmacotherapy1 mentions
  86. 2004Psychiatric Consequences of WTC Collapse and The Gulf War.Mens sana monographs1 mentions