Published on in Vol 1, No 2 (2013): Jul-Dec

Development of a Smartphone App for a Genetics Website: The Amyotrophic Lateral Sclerosis Online Genetics Database (ALSoD)

Development of a Smartphone App for a Genetics Website: The Amyotrophic Lateral Sclerosis Online Genetics Database (ALSoD)

Development of a Smartphone App for a Genetics Website: The Amyotrophic Lateral Sclerosis Online Genetics Database (ALSoD)

Journals

  1. Prasad A, Bharathi V, Sivalingam V, Girdhar A, Patel B. Molecular Mechanisms of TDP-43 Misfolding and Pathology in Amyotrophic Lateral Sclerosis. Frontiers in Molecular Neuroscience 2019;12 View
  2. Molina Recio G, García-Hernández L, Molina Luque R, Salas-Morera L. The role of interdisciplinary research team in the impact of health apps in health and computer science publications: a systematic review. BioMedical Engineering OnLine 2016;15(S1) View
  3. Famil Samavati S, Nikkhah M, Eidi A, Khodarahmi R. Reduced thermodynamic stability as prerequisite for aggregation of SOD1 mutants: a path through the reduction in intramolecular disulfide bonds. Journal of the Iranian Chemical Society 2020;17(8):2053 View
  4. Black H, Leighton D, Cleary E, Rose E, Stephenson L, Colville S, Ross D, Warner J, Porteous M, Gorrie G, Swingler R, Goldstein D, Harms M, Connick P, Pal S, Aitman T, Chandran S. Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. Neurobiology of Aging 2017;51:178.e11 View
  5. Fujisawa T, Yamaguchi N, Kadowaki H, Tsukamoto Y, Tsuburaya N, Tsubota A, Takahashi H, Naguro I, Takahashi Y, Goto J, Tsuji S, Nishitoh H, Homma K, Ichijo H. A systematic immunoprecipitation approach reinforces the concept of common conformational alterations in amyotrophic lateral sclerosis-linked SOD1 mutants. Neurobiology of Disease 2015;82:478 View
  6. Schmitt N, Agar J. Parsing disease‐relevant protein modifications from epiphenomena: perspective on the structural basis of SOD1‐mediated ALS. Journal of Mass Spectrometry 2017;52(7):480 View
  7. Finegan E, Li Hi Shing S, Siah W, Chipika R, Chang K, McKenna M, Doherty M, Hengeveld J, Vajda A, Donaghy C, Hutchinson S, McLaughlin R, Hardiman O, Bede P. Evolving diagnostic criteria in primary lateral sclerosis: The clinical and radiological basis of “probable PLS”. Journal of the Neurological Sciences 2020;417:117052 View
  8. Ivansson E, Megquier K, Kozyrev S, Murén E, Körberg I, Swofford R, Koltookian M, Tonomura N, Zeng R, Kolicheski A, Hansen L, Katz M, Johnson G, Johnson G, Coates J, Lindblad-Toh K. Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy. Proceedings of the National Academy of Sciences 2016;113(22) View
  9. Edmonson M, Patel A, Hedges D, Wang Z, Rampersaud E, Kesserwan C, Zhou X, Liu Y, Newman S, Rusch M, McLeod C, Wilkinson M, Rice S, Soussi T, Taylor J, Benatar M, Becksfort J, Nichols K, Robison L, Downing J, Zhang J. Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE): a cloud-based platform for curating and classifying germline variants. Genome Research 2019;29(9):1555 View
  10. De Marco G, Lomartire A, Calvo A, Risso A, De Luca E, Mostert M, Mandrioli J, Caponnetto C, Borghero G, Manera U, Canosa A, Moglia C, Restagno G, Fini N, Tarella C, Giordana M, Rinaudo M, Chiò A. Monocytes of patients with amyotrophic lateral sclerosis linked to gene mutations display altered TDP‐43 subcellular distribution. Neuropathology and Applied Neurobiology 2017;43(2):133 View
  11. Yin B, Balvert M, van der Spek R, Dutilh B, Bohté S, Veldink J, Schönhuth A. Using the structure of genome data in the design of deep neural networks for predicting amyotrophic lateral sclerosis from genotype. Bioinformatics 2019;35(14):i538 View
  12. Foggin S, Mesquita-Ribeiro R, Dajas-Bailador F, Layfield R. Biological Significance of microRNA Biomarkers in ALS—Innocent Bystanders or Disease Culprits?. Frontiers in Neurology 2019;10 View
  13. Finegan E, Li Hi Shing S, Chipika R, Doherty M, Hengeveld J, Vajda A, Donaghy C, Pender N, McLaughlin R, Hardiman O, Bede P. Widespread subcortical grey matter degeneration in primary lateral sclerosis: a multimodal imaging study with genetic profiling. NeuroImage: Clinical 2019;24:102089 View
  14. Bourassa M, Brown H, Borchelt D, Vogt S, Miller L. Metal-deficient aggregates and diminished copper found in cells expressing SOD1 mutations that cause ALS. Frontiers in Aging Neuroscience 2014;6 View
  15. Doyle C, Rumfeldt J, Broom H, Sekhar A, Kay L, Meiering E. Concurrent Increases and Decreases in Local Stability and Conformational Heterogeneity in Cu, Zn Superoxide Dismutase Variants Revealed by Temperature-Dependence of Amide Chemical Shifts. Biochemistry 2016;55(9):1346 View
  16. Ryan M, Heverin M, Doherty M, Davis N, Corr E, Vajda A, Pender N, McLaughlin R, Hardiman O. Determining the incidence of familiality in ALS. Neurology Genetics 2018;4(3) View
  17. Kuźma-Kozakiewicz M, Andersen P, Elahi E, Alavi A, Sapp P, Morita M, Żekanowski C, Berdyński M. Putative founder effect in the Polish, Iranian and United States populations for the L144S SOD1 mutation associated with slowly uniform phenotype of amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 2021;22(1-2):80 View
  18. Kuo S, Binder M, Heckman C. Excessive Homeostatic Gain in Spinal Motoneurons in a Mouse Model of Amyotrophic Lateral Sclerosis. Scientific Reports 2020;10(1) View
  19. Yun Y, Ha Y. CRISPR/Cas9-Mediated Gene Correction to Understand ALS. International Journal of Molecular Sciences 2020;21(11):3801 View
  20. Williams K, McCann E, Fifita J, Zhang K, Duncan E, Leo P, Marshall M, Rowe D, Nicholson G, Blair I. Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin. Neurobiology of Aging 2015;36(12):3334.e1 View
  21. McAlary L, Aquilina J, Yerbury J. Susceptibility of Mutant SOD1 to Form a Destabilized Monomer Predicts Cellular Aggregation and Toxicity but Not In vitro Aggregation Propensity. Frontiers in Neuroscience 2016;10 View
  22. Goyal V, Magliery T. Phylogenetic spread of sequence data affects fitness of SOD1 consensus enzymes: Insights from sequence statistics and structural analyses. Proteins: Structure, Function, and Bioinformatics 2018;86(6):609 View
  23. Tavella D, Zitzewitz J, Massi F. Characterization of TDP-43 RRM2 Partially Folded States and Their Significance to ALS Pathogenesis. Biophysical Journal 2018;115(9):1673 View
  24. Bede P, Chipika R, Finegan E, Li Hi Shing S, Doherty M, Hengeveld J, Vajda A, Hutchinson S, Donaghy C, McLaughlin R, Hardiman O. Brainstem pathology in amyotrophic lateral sclerosis and primary lateral sclerosis: A longitudinal neuroimaging study. NeuroImage: Clinical 2019;24:102054 View
  25. McAlary L, Plotkin S, Yerbury J, Cashman N. Prion-Like Propagation of Protein Misfolding and Aggregation in Amyotrophic Lateral Sclerosis. Frontiers in Molecular Neuroscience 2019;12 View
  26. Finegan E, Chipika R, Li Hi Shing S, Doherty M, Hengeveld J, Vajda A, Donaghy C, McLaughlin R, Pender N, Hardiman O, Bede P. The clinical and radiological profile of primary lateral sclerosis: a population-based study. Journal of Neurology 2019;266(11):2718 View
  27. Harrison A, Shorter J. RNA-binding proteins with prion-like domains in health and disease. Biochemical Journal 2017;474(8):1417 View
  28. Gibson S, Downie J, Tsetsou S, Feusier J, Figueroa K, Bromberg M, Jorde L, Pulst S. The evolving genetic risk for sporadic ALS. Neurology 2017;89(3):226 View
  29. Padhi A, Zhang K. Mechanistic insights into the loss-of-function mechanisms of rare human D-amino acid oxidase variants implicated in amyotrophic lateral sclerosis. Scientific Reports 2020;10(1) View
  30. McAlary L, Chew Y, Lum J, Geraghty N, Yerbury J, Cashman N. Amyotrophic Lateral Sclerosis: Proteins, Proteostasis, Prions, and Promises. Frontiers in Cellular Neuroscience 2020;14 View
  31. Famil Samavati S, Nikkhah M, Eidi A, Khodarahmi R. Study on the effects of various incubation conditions on aggregation of SOD1 variants: disulfide bond reduction and demetallation synergistically promote generation of non-amyloid amorphous aggregates from SOD1 mutants. Journal of the Iranian Chemical Society 2022;19(5):1755 View
  32. Lum J, Brown M, Farrawell N, McAlary L, Ly D, Chisholm C, Snow J, Vine K, Karl T, Kreilaus F, McInnes L, Nikseresht S, Donnelly P, Crouch P, Yerbury J. CuATSM improves motor function and extends survival but is not tolerated at a high dose in SOD1G93A mice with a C57BL/6 background. Scientific Reports 2021;11(1) View
  33. Lambert-Smith I, Saunders D, Yerbury J. Proteostasis impairment and ALS. Progress in Biophysics and Molecular Biology 2022;174:3 View
  34. Ryan M, Zaldívar Vaillant T, McLaughlin R, Doherty M, Rooney J, Heverin M, Gutierrez J, Lara-Fernández G, Pita Rodríguez M, Hackembruch J, Perna A, Vazquez M, Musio M, Ketzoian C, Logroscino G, Hardiman O. Comparison of the clinical and genetic features of amyotrophic lateral sclerosis across Cuban, Uruguayan and Irish clinic-based populations. Journal of Neurology, Neurosurgery & Psychiatry 2019;90(6):659 View
  35. Baxi E, Thompson T, Li J, Kaye J, Lim R, Wu J, Ramamoorthy D, Lima L, Vaibhav V, Matlock A, Frank A, Coyne A, Landin B, Ornelas L, Mosmiller E, Thrower S, Farr S, Panther L, Gomez E, Galvez E, Perez D, Meepe I, Lei S, Mandefro B, Trost H, Pinedo L, Banuelos M, Liu C, Moran R, Garcia V, Workman M, Ho R, Wyman S, Roggenbuck J, Harms M, Stocksdale J, Miramontes R, Wang K, Venkatraman V, Holewenski R, Sundararaman N, Pandey R, Manalo D, Donde A, Huynh N, Adam M, Wassie B, Vertudes E, Amirani N, Raja K, Thomas R, Hayes L, Lenail A, Cerezo A, Luppino S, Farrar A, Pothier L, Prina C, Morgan T, Jamil A, Heintzman S, Jockel-Balsarotti J, Karanja E, Markway J, McCallum M, Joslin B, Alibazoglu D, Kolb S, Ajroud-Driss S, Baloh R, Heitzman D, Miller T, Glass J, Patel-Murray N, Yu H, Sinani E, Vigneswaran P, Sherman A, Ahmad O, Roy P, Beavers J, Zeiler S, Krakauer J, Agurto C, Cecchi G, Bellard M, Raghav Y, Sachs K, Ehrenberger T, Bruce E, Cudkowicz M, Maragakis N, Norel R, Van Eyk J, Finkbeiner S, Berry J, Sareen D, Thompson L, Fraenkel E, Svendsen C, Rothstein J. Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines. Nature Neuroscience 2022;25(2):226 View
  36. Duranti E, Villa C. Molecular Investigations of Protein Aggregation in the Pathogenesis of Amyotrophic Lateral Sclerosis. International Journal of Molecular Sciences 2022;24(1):704 View
  37. Li J, Lim R, Kaye J, Dardov V, Coyne A, Wu J, Milani P, Cheng A, Thompson T, Ornelas L, Frank A, Adam M, Banuelos M, Casale M, Cox V, Escalante-Chong R, Daigle J, Gomez E, Hayes L, Holewenski R, Lei S, Lenail A, Lima L, Mandefro B, Matlock A, Panther L, Patel-Murray N, Pham J, Ramamoorthy D, Sachs K, Shelley B, Stocksdale J, Trost H, Wilhelm M, Venkatraman V, Wassie B, Wyman S, Yang S, Van Eyk J, Lloyd T, Finkbeiner S, Fraenkel E, Rothstein J, Sareen D, Svendsen C, Thompson L, Phatnani H, Kwan J, Broach J, Simmons Z, Arcila-Londono X, Lee E, Van Deerlin V, Shneider N, Ostrow L, Baas F, Zaitlen N, Berry J, Malaspina A, Fratta P, Cox G, Finkbeiner S, Dardiotis E, Miller T, Chandran S, Pal S, Hornstein E, MacGowan D, Heiman-Patterson T, Hammell M, Patsopoulos N, Butovsky O, Dubnau J, Nath A, Bowser R, Harms M, Poss M, Phillips-Cremins J, Crary J, Atassi N, Lange D, Adams D, Stefanis L, Gotkine M, Baloh R, Babu S, Raj T, Paganoni S, Shalem O, Smith C, Zhang B, Harris B, Broce I, Drory V, Ravits J, McMillan C, Menon V, Wu L, Altschuler S. An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients. iScience 2021;24(11):103221 View
  38. Tahedl M, Tan E, Shing S, Chipika R, Siah W, Hengeveld J, Doherty M, McLaughlin R, Hardiman O, Finegan E, Bede P. Not a benign motor neuron disease: longitudinal imaging captures relentless motor connectome disintegration in primary lateral sclerosis. European Journal of Neurology 2023;30(5):1232 View
  39. Tahedl M, Tan E, Siah W, Hengeveld J, Doherty M, McLaughlin R, Hardiman O, Finegan E, Bede P. Radiological correlates of pseudobulbar affect: Corticobulbar and cerebellar components in primary lateral sclerosis. Journal of the Neurological Sciences 2023;451:120726 View
  40. Tan E, Tahedl M, Lope J, Hengeveld J, Doherty M, McLaughlin R, Hardiman O, Chang K, Finegan E, Bede P. Language deficits in primary lateral sclerosis: cortical atrophy, white matter degeneration and functional disconnection between cerebral regions. Journal of Neurology 2024;271(1):431 View
  41. Kleinerova J, Tahedl M, Tan E, Delaney S, Hengeveld J, Doherty M, McLaughlin R, Hardiman O, Chang K, Finegan E, Bede P. Supra- and infra-tentorial degeneration patterns in primary lateral sclerosis: a multimodal longitudinal neuroradiology study. Journal of Neurology 2024 View
  42. Yan H, Lu C, Lan C, Wang S, Zhang W, He Z, Hu J, Ai J, Liu G, Ma S, Zhou Y, Qu J. Degeneration Directory: a multi-omics web resource for degenerative diseases. Protein & Cell 2024;15(5):385 View

Books/Policy Documents

  1. McAlary L, Yerbury J, Cashman N. Prions and Neurodegenerative Diseases. View
  2. Molina-Recio G, García-Hernández L, Castilla-Melero A, Palomo-Romero J, Molina-Luque R, Sánchez-Muñoz A, Arauzo-Azofra A, Salas-Morera L. Bioinformatics and Biomedical Engineering. View
  3. Chaudhary R, Rehman M, Agarwal V, Kaushik A, Mishra V. Neurodegenerative Diseases: Multifactorial Degenerative Processes, Biomarkers and Therapeutic Approaches (First Edition). View