Treating bipolar depression with esketamine: Safety and effectiveness data from a naturalistic multicentric study on esketamine in bipolar versus unipolar treatment-resistant depression

Autor: Martinotti, G., Dell'Osso, B., Dilorenzo, G., Maina, G., Bertolino, A., Clerici, M., Barlati, S., Rosso, G., Dinicola, M., Marcatili, M., D'Andrea, G., Cavallotto, C., Chiappini, S., Defilippis, S., Nicolo, G., Defazio, P., Andriola, I., Zanardi, R., Nucifora, D., Dimauro, S., Bassetti, R., Pettorruso, M., Mcintyre, R. S., Sensi, S. L., di Giannantonio, M., Vita, A., Baldacci, G., Belletti, S., Bellomo, A., Benatti, B., Carminati, M., Carullo, R., de Berardis, D., de Filippis, R., Chiaie, R. D., di Carlo, F., Di Petta, G., Galluzzo, A., Giorgelli, V., Lombardozzi, G., Martiadis, V., Mattei, C., Mosca, A., Niolu, C., Olivola, M., Percudani, M., Pepe, M., Rossi, E., Scardigli, M. I., Tati, F., Valchera, A., Vismara, M.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e0aa8df26d21c279e4af5a48ee0031b
https://hdl.handle.net/2318/1891433

Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: Muscle biopsy and autopsy findings, biochemical and molecular genetic studies

Autor: Taratuto, A.L., Akman, H.O., Saccoliti, M., Riudavets, M., Arakaki, N., Mesa, L., Sevlever, G., Goebel, H., DiMauro, S.

Publikováno v: In Neuromuscular Disorders 2010 20(12):783-790

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

Autor: Feichtinger R. G., Olahova M., Kishita Y., Garone C., Kremer L. S., Yagi M., Uchiumi T., Jourdain A. A., Thompson K., D'Souza A. R., Kopajtich R., Alston C. L., Koch J., Sperl W., Mastantuono E., Strom T. M., Wortmann S. B., Meitinger T., Pierre G., Chinnery P. F., Chrzanowska-Lightowlers Z. M., Lightowlers R. N., DiMauro S., Calvo S. E., Mootha V. K., Moggio M., Sciacco M., Comi G. P., Ronchi D., Murayama K., Ohtake A., Rebelo-Guiomar P., Kohda M., Kang D., Mayr J. A., Taylor R. W., Okazaki Y., Minczuk M., Prokisch H.

Publikováno v: American Journal of Human Genetics
American journal of human genetics, vol. 101, no. 4, pp. 525-538

Complement component 1 Q subcomponent-binding protein (C1QBP; also known as p32) is a multi-compartmental protein whose precise function remains unknown. It is an evolutionary conserved multifunctional protein localized primarily in the mitochondrial

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8ac8c0023b11fdbacad4cbc67120937c
http://europepmc.org/articles/PMC5630164

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Risk of developing a mitochondrial DNA deletion disorder.

Autor: Chinnery PF (AUTHOR), DiMauro S (AUTHOR), Shanske S (AUTHOR), Schon EA (AUTHOR), Zeviani M (AUTHOR), Mariotti C (AUTHOR), Carrara F (AUTHOR), Lombes A (AUTHOR), Laforet P (AUTHOR), Ogier H (AUTHOR), Jaksch M (AUTHOR), Lochmüller H (AUTHOR), Horvath R (AUTHOR), Deschauer M (AUTHOR), Thorburn DR (AUTHOR), Bindoff LA (AUTHOR), Poulton J (AUTHOR), Taylor RW (AUTHOR), Matthews JNS (AUTHOR), Turnbull DM (AUTHOR)

Publikováno v: Lancet. 8/14/2004, Vol. 364 Issue 9434, p592-596. 5p.