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Peer reviewed articles

Garcia-Vaquero ML, Gama-Carvalho M, De Las Rivas J, Pinto FR. Searching the overlap between network modules with specific betweeness (S2B) and its application to cross-disease analysis (2018) Sci Rep, 8, 11555. doi: 10.1038/s41598-018-29990-7

Kork F, Jankowski J, Goswami A, Weis J, Brook G, Yamoah A, Anink J, Aronica E, Fritz S, Huck C, Schipke C, Peters O, Tepel M, Noels H, Jankowski V. Golgin A4 in CSF and granulovacuolar degenerations of Alzheimer patients (2018) Neurology. 91(19): e1799-e1808

Phan V, Cox D, Cipriani S, Spendiff S, Buchkremer S, O'Connor E, Horvath R, Goebel HH, Hathazi D, Lochmüller H, Straka T, Rudolf R, Weis J, Roos A. SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human (2019) Neurobiol Dis. 124: 218-229

Reviews

Gama-Carvalho M , L Garcia-Vaquero M, R Pinto F, Besse F, Weis J, Voigt A, Schulz JB, De Las Rivas J. Linking amyotrophic lateral sclerosis and spinal muscular atrophy through RNAtranscriptome homeostasis: a genomics perspective (2017) JNeurochem 141(1): 12-30. doi: 10.1111/jnc.13945

De Graeve F. and Besse F. Neuronal RNP granules: from physiological to pathological assemblies (2018) Biol. Chem, 399(7):623-635. doi: 10.1515/hsz-2018-0141

Presentations at meetings and conferences

F. Besse (2018). “Regulating neuronal RNP granules in space and time”. Gordon Research Conference on Neural DevelopmentNewport, USA

F. Besse (2017). “Regulating neuronal RNP granules in space and time”. German Society for Biochemistry and Molecular Biology (GBM) meeting- Bochum, Germany

F. Besse (2017). “Regulating neuronal RNP granules in space and time”. 42nd FEBS congress- Jerusalem, Israel

F. Besse (2016). “Regulating neuronal RNP granules in space and time”. Biochemical Society Harden Conference on RNA regulation- Winchester, UK

M.L. Garcia-Vaquero, J. De Las Rivas, M. Gama-Carvalho and Francisco R. Pinto (2017) Cross-disease network analysis of motor neuron degeneration with a novel specific betweenness method - S2B. BioSys PhD retreat 2017 – Systems Approaches for Biological Problems, Beja, Portugal, 6th - 7 th October 2017. “Best Poster” Award.

M.L. Garcia-Vaquero, J. De Las Rivas, M. Gama-Carvalho and F.R. Pinto. Exploring the interactions between neuron degeneration and RNA homeostasis through biological network analysis. EMBO|EMBL Symposium on Mechanisms of Neurodegeneration, Heidelberg 14th - 17 th June 2017

H.A.F. Santos, T. Yokokura, S. Yoshikawa, E. McNeill, A. Amaral, D. Van Vactor, M. Gama-Carvalho. Genome-wide study on the impact of defective splicing machinery on the establishment of SMN-dependent neurodegenerative phenotype." 22nd Annual Meeting of the RNA Society, May 30 to June 3, 2017, Prague, Czech Republic.

M.L. Garcia-Vaquero, J. De Las Rivas, M. Gama-Carvalho, F.R. Pinto. Exploring the interactions between neuron degeneration and RNA homeostasis through biological network analysis. Chem&BioChem Postgraduate Students Meeting. Faculdade de Ciências, Universidade de Lisboa, Lisboa Portugal February 9th 2017

M. Gama-Carvalho and the FlySMALS consortium. Unravelling common pathways for motor-neuron degeneration in SMA and ALS. Workshop Integrative Approaches in Neurodegeneration, Lisbon, June 21st to 23rd 2018

T. Yokokura, E.M. McNeil, T. Chobanya, S. Yoshikawa, H. Goto, H.A.F. Santos, A. Fonseca, M. Lynes, L. Rubin, M. Gama-Carvalho, D. Van Vactor. Mutants Lacking Drosophila Smn Display SMA Disease-relevant Neuromuscular Defects that Can be Rescued by Elevation in Conserved Transynaptic Signaling Pathways. Workshop on Integrative Approaches in Neurodegeneration, Lisbon, June 21st to 23rd 2018

M.L. Garcia-Vaquero, M. Gama-Carvalho, J. De Las Rivas, F.R. Pinto. S2B (Specific-Specific Betweenness): a novel crossdisease network analysis method applied to motor neuron degeneration. Workshop on Integrative Approaches in Neurodegeneration, Lisbon, June 21st to 23rd 2018 (poster communication)

T. Yokokura, E.M. McNeill, T. Chobanyan, S. Yoshikawa, H. Goto, H.A.F. Santos, A. Fonseca, M. Lynes, H. Chang, D. Dimlich, M. Kankel, A. Sen, S. Artavanis-Tsakonas, L. Rubin, M. Gama-Carvalho, D. Van Vactor. mRNAs Altered in Human and Drosophila Models of Spinal Muscular Atrophy. Workshop on Integrative Approaches in Neurodegeneration, Lisbon, June 21st to 23rd 2018 (poster communication)

I. Ramos, M.L. Garcia-Vaquero, M. Gama-Carvalho, F.R. Pinto. Cross-disease network analysis of ALS and SMA using specific betweenness method (S2B) with directed networks. Workshop on Integrative Approaches in Neurodegeneration, Lisbon, June 21st to 23rd 2018 (poster communication)

Sá e Silva, J. (2018). The role of LARP4 in the CND – connections to Spinal Muscular Atrophy. MSc thesis in Neurosciences, Faculty of Medicine, University of Lisbon. Advisor: M. Gama-Carvalho, in collaboration with A. Voigt

Manuscripts in preparation

Pereira P, Flix B, Garcia-Vaquero M, Heim M, Marques T, Besse F, De Las Rivas J, Weis J, Schulz J, Pinto, F Voigt A, Gama-Carvalho, M (2019) Common pathways in SMA, ALSTDP43 and ALS-FUS disease models

Garcia-Vaquero M, Tarampanis A, Flix B, Pinto FR, Gama-Carvalho M and Voigt A (2019) TDP-43 ALS causing mutation N390D leads to enhanced protein-protein interactions causing disruption of normal TDP-43 function