266 results on '"Garavaglia B."'
Search Results
2. R106C TFG variant causes infantile neuroaxonal dystrophy “plus” syndrome
- Author
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Catania, A., Battini, R., Pippucci, T., Pasquariello, R., Chiapparini, M. L., Seri, M., Garavaglia, B., Zorzi, G., Nardocci, N., Ghezzi, D., and Tiranti, V.
- Published
- 2018
- Full Text
- View/download PDF
3. Phenotypic heterogeneity of movement disorders due to intracranial calcifications with or without SLC20A2 mutations: 125
- Author
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Carecchio, M., Varrasi, C., Barzaghi, C., Magistrelli, L., Comi, C., Garavaglia, B., and Cantello, R.
- Published
- 2014
4. The study of oxidative status and mitochondria functionality in human neuronal models of pantothenate kinase associated neurodegeneration: EP1140
- Author
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Levi, S., Santambrogio, P., Guaraldo, M., Cozzi, A., Rotundo, I. L., Broccoli, V., and Garavaglia, B.
- Published
- 2014
5. GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: Identification and functional characterization of four novel mutations
- Author
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Garavaglia, B., Invernizzi, F., Carbone, M. L. Agostoni, Viscardi, V., Saracino, F., Ghezzi, D., Zeviani, M., Zorzi, G., and Nardocci, N.
- Published
- 2004
- Full Text
- View/download PDF
6. Medium-chain triglyceride loading test in carnitine–acylcarnitine translocase deficiency: Insights on treatment
- Author
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Parini, R., Invernizzi, F., Menni, F., Garavaglia, B., Melotti, D., Rimoldi, M., Salera, S., Tosetto, C., and Taroni, F.
- Published
- 1999
- Full Text
- View/download PDF
7. Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency
- Author
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Parini, R., Menni, F., Garavaglia, B., Fesslova, V., Melotti, D., Massone, M. L., Lamantea, E., Rimoldi, M., Vizziello, P., and Gatti, R.
- Published
- 1998
- Full Text
- View/download PDF
8. Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency
- Author
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Ribes, A., Riudor, E., Garavaglia, B., Martinez, G., Arranz, A., Invernizzi, F., Briones, P., Lamantea, E., Sentís, M., Barceló, A., and Roig, M.
- Published
- 1998
- Full Text
- View/download PDF
9. Clinical and biochemical findings in a Spanish boy with primary carnitine deficiency
- Author
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Briones, P., Garavaglia, B., Ribes, A., Yoldi, M. E., Rodés, M., Romero, C., and García-Bragado, F.
- Published
- 1995
- Full Text
- View/download PDF
10. Impaired degradation of phytanic acid in cells from patients with mitochondriopathies: Evidence for the involvement of ETF and the respiratory chain in phytanic acid α-oxidation
- Author
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Fingerhut, R., Schmitz, W., Garavaglia, B., Reichmann, H., and Conzelmann, E.
- Published
- 1994
- Full Text
- View/download PDF
11. Fourth meeting of the European Neurological Society 25–29 June 1994 Barcelona, Spain: Abstracts of Symposia and free communications
- Author
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Harms, L., Bock, A., JÄnisch, W., Valdueza, J., Weber, J., Link, I., De Keyser, J., Goossens, A., Wilczak, N., Vedeler, C., Bjorge, L., Uvestad, E., Conti, G., Williams, K., Ginsberg, L., Rafique, S., Rapoport, S. I., Gershfeld, N. L., De La Meilleure, G., Crevits, L., Faiss, J. H., Heye, N., Blanke, J., Sackmann, A., Kastrup, O., Doornbos, R., van der Worp, H. B., Kappelle, L. J., Bar, P. R., Davie, C. A., Barker, G. J., Brenton, D., Miller, D. H., Thompson, A. J., Block, F., Schwarz, M., Delodovici, L., Baruzzi, F., Bonaldi, G., Dario, A., Marra, A., Mercuri, A., Dworzak, F., Cavallari, P., Confalonieri, P., Zuffi, M., Antozzi, C., Cornelio, F., Baldissera, F., Chassande, B., Ameri, A., Eymard, B., Poisson, M., Vérier, A., Brunet, P., Congia, S., Murgia, P. L., Cannas, A., Borghero, G., Uselli, S., Mellino, G., Ferrai, R., Lampis, R., Massa, R., Muzzetto, B., Giannini, F., Rossi, S., Cioni, R., d'Aniello, C., Guarneri, A., Battistini, N., Ceriani, F., Del Santo, A., Poloni, M., Campo, J. F., Iglesias, F., Guitera, M. V., Farinas, C., Pascual, J., Leno, C., Berciano, J., Thorpe, I. W., Kendall, B. E., McDonald, W. I., Moulignier, A., Dromer, F., Baudrimont, M., Dupont, B., Gozlan, J., El Amrani, M., Petit, J. C., Roullet, E., Sterzi, R., Causaran, R., Protti, A., Riva, M., Erminio, F., Arena, O., Villa, F., Maccagnano, E., Miletta, M., Spinelli, F., Ben-Hur, T., Weidenfeldl, J., Rao, N. S., Chari, C. C., Laforet, P., Matheron, S., Adams, D., Chemouilli, Ph., Desi, M., Said, G., Davous, P., Lionnet, F., Pulik, M., Genet, P., Rozenberg, F., Cartier, L. M., Castillo, J. L., Cea, J. G., Villagra, R., de Saint Martin, L., Mahieux, F., Manifacier, M. J., Mattos, K., Queiros, C., Publio, L., Vinhas, V., PeÇanha-Martins, A. C., Melo, A., Liska, U., Zifko, U., Budka, H., Drlicek, M., Grisold, W., Kaufmann, R., Kaiser, R., Czygan, M., Gomes, I., Jones, N., Cunha, S., EmbiruÇu, E. Katiane, Vieira, V., Araujo, I., Alexandra, M., Ferreira, A., Goes, J., Chemouilli, P., Israel-Biet, Masson, H., Lacroix, C., Gasnault, J., Hildebrandt-Müller, B., Oschmann, P., Krack, P., Willems, W. R., Dorndorf, W., Freitas, V., Bittencourt, A., Fernandes, D., Nascimento, M. H., Severo, M., Moraes, D., Muller, M., Hasert, K., Merkelbach, S., Schimrigk, K., van Oosten, B. W., Lai, M., Polman, C. H., Bertelsmann, F. W., Hodgkinson, S., Cabre, P. H., Volpe, L., Smadja, D., Vernant, J. P., Villaroya, H., Violleau, K., Younes-Chennoufi, A. Ben, Baumann, N., Villanueva-Hemandez, P., Ballabriga, J., Basart, E., Arbizu, T. X., Perez-Serra, J., Vinuels, F., Giron, J. M., Castilla, J. M., Redondo, L., Izquierdo, G., Lauer, K., Henneberg, A., Bittmann, N., Link, D., Wollinsky, K. H., Mobner, R., Fassbender, K., Kuhnen, J., Schwartz, A., Hennerici, M., Miller, A., Lider, O., Abramsky, O., Weiner, H. L., Offner, H., Vanderbark, A. A., Paoino, E., Fainardi, E., Addonizio, M. C., Ruppi, P., Tola, M. R., Granieri, E., Carreras, M., Sazdovitch, V., Joutel, A., Verdier-taillefer, M. H., Heinzlef, O., Radder, C., Tournier-Lasserve, E., Brenner, R. E., Munro, P. M. G., Williams, S. C. R., Bell, J. D., Hawkins, C. P., Filippi, M., Campi, A., Dousset, V., Canal, N., Comi, G., Zhu, J., Weber, F., Retska, R., List, J., Zhang, L., Brock, M., Taphoorn, M. J. B., Heimans, J. J., van der Veen, E. A., Karim, A. B. M. F., Sarazin, M., Argentino, N., Delattre, J. Y., Derkinderen, P., Buchwald, B., Schroter, G., Serve, G., Franke, C. H., Conrad, B., Kitchen, N. D., Thomas, D. G. T., Forman, A. D., Ang, Kie- Kian, Price, R., Stephens, C., Salmaggi, A., Nermni, R., Silvani, A., Forno, M. G., Luksch, R., Boiardi, A., Grzelec, H., Fryze, C., Nowacki, P., Zdziarska, B., Sanson, M., Merel, P., Richard, S., Rouleau, G., Thomas, G., Olsen, N. K., Pfeiffer, P., Egund, N., Bentzen, S. M., Johannesen, L., Mondrup, K., Rose, C., Zyluk, B., Wondrusch, E., Berger, O., Fast, N., Jellinger, K., Lindner, K., Urman, A., Thibault, J. L., Duyckaerts, Ch., Strik, H., Muller, B., Richter, E., Krauseneck, P., Steinbrecher, A., Schabet, M., Hess, C., Bamberg, M., Dichgans, J., Counsell, C. E., McLeod, M., Grant, R., Creel, G. B., Claus, D., Sieber, E., Engelhardt, A., Rechlin, T., Thierauf, P., Neubauer, U., Peresson, M., Di Giovacchino, G., Romani, G. L., Di Silverio, F., Danek, A., Kuffner, M., Hoermann, R., Schopohl, J., Laska, M., Heye, B., Zangaladze, A. T., Valls-SoIè, J., Cammarota, A., Alvarez, R., Tolosa, E., Hallett, M., Ulbricht, D., Ganslandt, O., Kober, H., Vieth, J., Grummich, P., Pongratz, H., Brigel, C., Fahlbusch, R., Serra, F. P., Palma, V., Nolfe, G., Buscaino, G. A., Rothstein, T. L., Gibson J. M., Morrison P. M., Collins A. D., Eiselt, M., Wagnur, H., Zwiener, U., Schindler, T., Efendi, H., Ertekin, C., Erfas, M., Larsson, L. E., Sirin, H., AraÇ, N., Toygar, A., Demir, Y., Seddigh, S., Vogt, T. H., Hundemer, H., Visbeck, A., Pastena, L., Faralli, F., Mainardi, G., Gagliardi, R., Linden, D., Berlit, P., Lopez, O. L., Becker, J. T., Jungreis, C., Brenner, R., Rezek, D., Dekesky, S. T., Estol, C., Boller, F., Fernandez, J. M., Mederer, S., Batlle, J., Turon, A., Codina, A., Hitzenberger, P., Vila, N., Valls-SolÇ, J., Chamorro, A., Pouget, J., Schmied, A., Morin, D., Azulay, J. Ph., Vedel, J. P., Montalt, J., Escudero, J., Barona, R., Campos, A., Varli, K., Ertem, E., Uludag, B., Yagiz, A., Privorkin, Z., Steinvil, Y., Kott, E., Combarros, O., Sanchez-Pernaute, R., Orizaola, P., Mokrusch, Th., Kutluaye, E., Selcuki, D., Ertikin, C., Zettl, U., Gold, R., Harvey, G. K., Hartung, H. P., Toyka, K. V., Wokke, J. H. J., Oey, P. L., Ippel, P. F., Jansen, G. H., Franssen, H., Toyooka, K., Fujimura, H., Ueno, S., Yoshikawa, H., Yorifuji, S., Yanagihara, T., Talamon, C., Tzourio, C., Kiefer, R., Jung, S., Toyka, K., Ruolt, I., Tranchant, C., Mohr, M., Warter, J. M., Younger, D. S., Rosoklija, G., Hays, A. P., Kurita, R., Hasegawa, O., Matsumto, M., Komiyama, A., Nara, Y., Oueslati, S., Belal, S., Turki, I., Ben Hamida, C., Hentati, F., Ben Hamida, M., Kwiecinski, H., Krolicki, L., Domzal-Stryga, A., Dellemijn, P. L. I., van Deventer, P., van Moll, B., Drogendijk, T., Vecht, Ch. J., Nemni S., Amadio, Fazio, R., Galardin, G., Delodovici, M. L., Peghi, E., Monticelli, M. L., Sessa, A., Viguera, M. L., Palomar, M., Gamez, J., Cervera, C., Navarro, C., Serena, J., Duran, I., Fernandez, A. L., Comabella, M., Nos, C., Rio, J., Montalban, J., Navarro, X., Verdu, E., Darbra, S., Buti, M., Mrabet, A., Fredj, M., Gouider, R., Tounsi, H., Khalfallah, N., Haddad, A., Dbaiss, T., Ghnassia, R., Rouillet, E., Chedru, F., Porsche, H., Strenge, H., Li, S. W., Young, Y. P., Garcia, A. A., Baron, P., Scarpini, E., Bianchi, R., Conti, A., Livraghi, S., Rees, J. H., Gregson, N. A., Hughes, R. A. C., Sedano, M. J., Calleja, J., Canga, E., Bahou, Y., Biary, N., Al Deeb, S. M., Guern, E. L. E., Gugenheim, M., Tardieu, S., Aisonobe, T. M., Agid, Y., Bouche, P., Brice, A., Rautenstrauss, B., Nelis, E., Grehl, H., Van Broeckhoven, C., Pfeiffer, R. A., Liehr, T., Ganzmann, E., Gehring, C., Neundörfer, B., Geremia, L., Doronzo, R., Sacilotto, G., Sergi, P., Pastorino, G. C., Scarlato, G., Planté-Bordeneuve, V., Mantel, A., Baas, F., Moser, H., Antonini, A., Psylla, M., Günther, I., Vontobell, P., Beer, H. F., Leenders, K. L., Chaudhuri, K. Ray, Parker, J., Pye, I. F., Millac, P. A. H., Abbott, R. J., Sutter, M., Albani, C., de Rijk, M. C., Breteler, M. M. B., Graveland, G. A., van der Mechè, F. G. A., Hofman, A., Keipes, M., Hilger, Ch., Diederich, N., Metz, H., Hentges, F., Pollak, P., Benabid, A. L., Limousin, P., Hoffmann, D., Benazzouz, A., Perret, J., Laihinen, A., Rinne, J. O., Ruottinen, H., Nagren, K., Lehikoinen, P., Oikonen, V., Ruotsalainen, U., Rinne, U. K., Cocozza, S., Pizzuti, A., Cavalcanti, F., Monticelli, A., Pianese, L., Redolfi, E., Paiau, F., Di Donato, S., Pandolfo, M., Palau, F., Monros, E., De Michele, G., Smeyers, P., Lopez-ArLandis, J., Uilchez, J., Filla, A., Genis, D., Matilla, T., Volpini, V., Blanchs, M. I., Davalos, A., Molins, A., Rosell, J., Estivill, X., De Jonghe, P., Smeyers, G., Krols, L., Mercelis, R., Hazan, J., Weissenbach, J., Martin, J. J., Warner, T. A. T., Williams, L., Orb, A. S., Harding, A. E., Giunti, P., Sweeney, M. G., Spadaro, M., Jodice, C., Novelletto, A., Malaspina, P., Frontali, M., Salmon, E., Gregoire, Del Fiore, Comar, Franck, G., Scheltens, P. H., Siegfried, K., Dartigues, E., De Deyn, P., Horn, R., Nelson, I., Hanna, M. G., Morgan-Hughes, J. A., Collinge, J., Palmer, M. S., Campbell, T., Mahal, S., Sidle, K., Humphreys, C., Tavitian, B., Pappata, S., Jobert, A., Crouzel, A. M., DiGiamberardino, L., Steimetz, G., Barbanti, P., Fabbrini, G., Salvatore, M., Buzzi, M. G., Di Piero, V., Petraroli, R., Sbriccoli, A., Pocchiari, M., Macchi, G., Lenzi, G. L., Spiegel, R., Maguire, P., Schmid, W., Ott, A., Bots, M. L., Grobbe, D. E., Hofman, A., Howard, R. S., Russell, S., Losseff, N., Hirsch, N. P., Couderc, R., Bailleul, S., Nargeot, M. C., Touchon, J., Picot, M. C., Rizzo, M., Watson, G., McGehee, D., Dingus, T., Kappos, L., Radü, E. W., Haas, J., Hartard, C. H., Spuler, S., Yousry, T., Voltz, R., Scheller, A., Holler, E., Hohlfeld, R., Scolding, N. J., Sussman, J., Kolar, O. J., Farlow, M. R., Rice, P. H., Zipp, F., Sotgiu, S., Weiss, E. H., Wekerle, H., Chalmers, R., Robertson, N., Compston, D. A. S., Martino, G., Clementi, E., Brambilla, E., Moiola, L., Martinelli, V., Colombo, B., Poggi, A., Rovaris, M., Grimaldi, L. M. E., Roth, M. P., Descoins, P., Ballivet, S., Ruidavets, J. B., Waubant, E., Nogueira, L., Cambon-Thomsen, A., Clanet, M., Leppert, D., Hauser, S., Lugaresi, A., Tartaro, A., D'aurelio, P., Befalo, L. L. O., Thomas, A., Malatesta, G., Gambi, D., Benedikz, J. E. G., Magnusson, H., Poser, C. M., Guomundsson, G., Bates, T. E., Davies, S. E. C., Clark, J. B., Landon, D. N., ùther, J. R., Rautenberg, W., Overgaard, K., Sereghy, T., Pedersen, H., Boysen, G., Diez-Tejedor, E., Carceller, F., Gutierrez, M., Lopez-Pajares, R., Roda, J. M., Chandra, B., Ricart, W., Gonzalez-Huix, F., Molina, A., Rundek, T., Demarin, V., De Reuck, J., Boon, P., Decoq, D., Strijckmans, K., Goethals, P., Lemahieu, I., Nibbio, A., Chabriat, H., Vahedi, K., Nagy, T., Verin, M., Mas, J. L., Julien, J., Ducrocq, X., Iba-Zizen, M. T., Cabanis, E. A., Bousser, M. G., Rolland, Y., Landgraf, F., Bompais, B., Lemaitre, M. H., Edan, G., Vorstrup, S., Knudsen, L., Olsen, K. Skovgaard, Videbaek, C., Schroeder, T., van Gijn, J., Jansen, H. M. L., Pruim, J., Paans, A. M. J., Willemsen, A. T. M., Hew, J. M., vd Vliet, A. M., Haaxma, R., Vaalburg, W., Minderhoud, J. M., Korf, J., Soudain, S. E., Ho, T. W., Mishu, B., Li, C. Y., Nachainkin, I., Gao, C. Y., Cornblath, D. R., Griffin, J. W., Asbury, A. K., Blaser, M. J., McKhann, G. M., Ho, T., Macko, C., Xue, P., Stadlan, E. M., Ramos-Alvarez, M., Valenciano, L., Visser, L. H., van der Meché, F. G. A., van Darn, P. A., Meulstee, J., Schmitz, P. I. M., Jacobs, B., Oomes, P. G., Kleyweg, R. P., Jacobs, B. C., Endtz, H. P., van Doorn, P. A., van der Mech, F. G. A., Van den Berg, L. H., Mollee, I., Logtenberg, T., Thomas, P. K., Plant, G., Baxter, P. J., Luis, R. Santiago, Matsumoto, M., Notermans, N. C., Wokke, J. H. J., Lokhorst, H. M., van der Graaf, Y., Jennekens, F. G. I., Azulay, J. P., Bille-Turg, F., Valentin, P., Farnarier, G. G., Pellissier, J. F., Serratrice, G., Quasthoff, S., Schneider, U., Grafe, P., Hilkens, P. H. E., Moll, J. W. B., van der Burg, M. E. L., Planting, A. S. T., van Putten, W. L. J., van den Bent, M. J., Birklein, F., Spitzer, A., Lang, E., Neundorfer, B., Diehl, R. R., Lücke, D., Smith, G. D. P., Mathias, C. J., Serra, J., Campera, M., Ochoa, J. L., Ray Chaudhuri, K., Pavitt, D., Alam, M., Handwerker, H. O., Bleasdale-Barr, K., Smith, G., Murray, N. M. F., Hawkins, P., Pepys, M., Gellera, C., DiDonato, S., Taroni, F., Uncini, A., Di Muzio, A., Servidei, S., Silvestri, G., Lodi, R., Iotti, S., Barbiroli, B., Morrissey, S. P., Borruat, F. X., Francis, D., Mosely, I., Hansen, H. C., Helmke, K., Kunze, K., Sadzot, B., Maquet, P., Lemaire, Plenevaux, Damhaut, Sommer, C., Myers, R. R., Berta, E., Mantegazza, R., Argov, Z., Shapira, Y., Wirguin, I., Beuuer, J., Franke, C., Roberts, M., Willison, H., Vincent, A., Newsom-Davis, J., Morrison, K. E., Damels, R., Francis, M., Campbell, L., Davies, K. E., Kohler, W., Bucka, C., Hertel, G., Kanovsky, P., Auer, D., Ackermann, H., Klose, U., Naegele, Th., Bien, S., Voigt, K., Fink, G. R., Stephan, K. M., Wise, R. J. S., Mullatti, N., Hewer, L., Frackowiak, R. S. J., Weiller, C. S., Rijnites, M., Jueptner, M., Bauermann, T., Krams, M., Diener, H. C., van Walderveen, M. A. A., Barkhof, F., Hommes, O. R., Valk, J., Willmer, J. P., Guzman, D. A., Passingham, R. E., Silbersweig, D., Ceballos-Baumann, A., Frith, C. D., Frackowiak, R., Lucas, C. H., Goullard, L., Marchau, M. J., Godefroy, O., Rondepierre, P. H., Chamas, E., Mounier-Vehier, F., Leys, D., Renato, J., Verdugo, M. S. C., Campero, M., Jose, L., Ochoa, D. S. C., Vivancos, F., Tejedor, E. Diez, Martinez, N., Roda, J., Frank, A., Barreiro, P., Satoh, Y., Nagata, K., Maeda, T., Hirata, Y., YalÇinerner, B., Ozkara, C., Ozer, F., Ozer, S., Hanoglu, L., Zunker, P., Pozo, J. L., Oberwittler, C., Schick, A., Buschmann, H. -Ch., Ringelstein, E. Bernd, Lara, M., Anzola, G. P., Magoni, M., Volta, G. Dalla, Tarasov, A., Feigin, V., Beaudry, M. G., Carrier, S., Chicoutimi, Henriques, I. L., Bogoussslavsky, J., van Melle, G., Mathieu, J., Perusse, L., Allard, P., Prevost, C., Cantin, L., Bouchard, J. M., De Braekeleer, M., Agbo, C., Neau, J. P., Tantot, A. M., Dary-Auriol, M., Ingrand, P., Gil, R., Baltadjiev, D., Zekin, D., Sabey, K., Gennaula, C. P., Pope, B. A., Caparros-Lefebvre, D., Girard-Buttaz, I., Pruvo, J. P., Petit, H., Hipola, D., Martin, M., Giménez-Roldan, S., Ivanez, V., Japaridze, G., Carrasco, J. L., Picomell, I., Herranz, J. L., Macias, J. A., Nieto, M., Noya, M., Oller, L., Kiteva-Trencevska, G., Delgado, M. R., Liu, H., Luengo, A., Parra, J., Colas, J., Fernandez, M. J., Manzanares, R., Kornhuber, M. E., Malashkhia, V., Orkodashili, G., Martinez, M., Bonaventura, I., Porta, G., Martinez, I., Fernandez, A., Aguilar, M., Masnou, P., Drouet, A., Dreyfus, M., Cartron, J., Morel-Kopp, M. C., Tchernia, G., Kaplan, C., Lammers, M. W., Hekster, Y. A., Keyser, A., Meinardi, H., Renier, W. O., Boon, P. A. J. M., Have, M. D., Kint, B., Cruz, P., Cadilha, A., Almeida, R., Goncalves, M., Pimenta, M., Ramos, L. M. P., Polder, T. W., Broere, C. A., Polman, L., Rother, I., Rother, M., Schlaug, G., Arnold, S., Holthausen, H., Wunderlich, G., Ebner, A., Luders, H., Witte, O. W., Seitz, R. J., Serra, L. L., Gallicchio, B., Rotondi, F., Wieshmann, U., Meierkord, H., Sabev, K., Di Carlo, V., Gueguen, B., Derouesné, Ch., Ancri, D., Bourdel, M. C., Guillou, S., Aliaga, R., Chornet, M. A., Rodrigo, A., Pascual, A. Pascual -Leone, Catala, M. D., Pascual-Leone, A., Benbadis, S. R., Dinner, D. S., Chelune, G. J., Lüders, H. O., Piedmonte, M. R., Blanco, T., Lopez, M. P., Romero, B., Deltoro, A., Pascual, A., Pascual, Leone, Bolgert, F., Josse, M. O., Tassan, P., Touze, E., Laplane, D., Godenberg, F., Brizioli, E., Del Gobbo, M., Pelliccioni, G., Scarpino, O., Durak, H., Damlacik, G., Tunca, Z., Fidaner, H., Yurekli, Y., Yemez, B., Kaygisiz, A., Anllo, E. A., Esperet, E., Giovagnoli, A. R., Casazza, M., Spreafico, R., Avanzini, G., Mascheroni, S., Vecchio, I., Tornali, C., Antonuzzo, A., Grasso, A. A., Bella, R., Pennisi, G., Raffaele, R., Broeckx, J., Schildermans, F., Hospers, W., Deberdt, W., Carney, J. M., Aksenova, M., Chen, M. S., Juncadella, M., Busquets, N., De la Fuente, I., Rodriguez, A., Rubio, F., Soler, R., Khati, C., Pillon, B., Deweer, B., Malapani, C., Malichard, N., Dubois, B., Rancurel, G., Lopez, D. L., Jungreia, G., DeKosky, S. T., Boiler, F., Weiller, C., Rijntjes, M., Mueller, S. P., Maguire, E. A., Burke, E. T., Staunton, H., Phillips, J., Rousseaux, M., Pena, J., Bertran, I., Santacruz, P., Lopez, R., Catafau, A., Lomena, F., Blesa, R., Rampello, L., Nicoletti, A., Cabaret, M., Lesoin, F., Steinling, M., Tournev, I., Maier-Hauff, K., Schroeder, M., Wolf, A., Cochin, J. P., Noel, I., Augustin, P., Auzou, P., Hannequin, D., Maria, V., Lopez-Bresnahan, Danielle, D. M., Antin-Ozerkis B. A., Bartels, E., Rodiek, S. O., Flugel, K. A., Campos, D. M., Salas-Puig, J., Del Rio, J. Sanhez, Vidal, J. A., Lahoz, C. H., Eraksoy, M., Barlas, O., Barlas, M., Bayindir, C., Ozcan, H., Birbamer, G., Gerstenbrand, F., Felber, S., Luz, G., Aichner, F., Seidel, G., Kaps, M., Hutzelmann, A., Gerriets, T., Kruggel, F., Martin, P. J., Gaunt, M. E., Abbot, R. J., Naylor, A. R., Meary, E., Dilouya, A., Meder, J. F., De Recondo, J., Lebtahi, R., Neff, K. W., Meairs, S., Viola, S., Matta, E., Aquilone, L., Rise, I. R., Authier, F. J., Kondo, H., Ghnassia, R. T., Degos, J. D., Gherardi, R. K., Bardoni A., Ciafaloni E., Comi G. P., Bresolin N., Robotti M., Moggio M., Rigoletto C., Roses A., Scarlato G., Castelli, E., Turconi, A., Bresolin, N., Perani, D., Felisari, G., Chariot, P., de Pinieux, G., Astier, A., Jacotot, B., Gherardi, R., Fischer-Gagnepain, V., Louboutin, J. P., Crespo, F., Florea-Strat, A., Fromont, G., Sabourin, J. -C., Gonano, E. -F., Moroni, I., Prelle, A., Iannaccone, S., Quattrini, A., deRino, F., Sessa, M., Golzi, V., Smirne, S., Nemni, R., Turpin, J. C., Lucotte, G., Jacobs, S. C. J. M., Willems, P. W. A., Bootsma, A. L., Lasa, A., Calaf, M., Baiget, M., Gallano, B., Fichter-Gagnepain, V., Mazzucchelli, F., D'Angelo, M. G., Velicogna, M., Bet, L., Comi, G. P., Bordoni, A., Gonano, E. F., Bazzi, P., Rapuzzi, S., Moggio, M., Fagiolari, G., Ciscato, P., Messina, A., Battistel, A., Ryniewicz, B., Sangla, I., Desnuelle, C., Paquis, V., Cozzone, P. J., Bendahan, D., Sturenburg, H. J., Kohncke, G., Castellli, E., Linssen, W., Stegeman, D., Binkhorst, R., Notermans, S., Jaspert, A., Fahsold, R., de Munain, A. Lopez, Cobo, A., Martorell, L., Poza, J. J., Navarrete Palau, D., Emparanza, J. I., Sanchez-Roy, R., Vilchez, J. J., Hernandez, M., Tena, J. Garcia, Perla, C., Koutroumanidis, M., Papathanasopoulos, P., Papadimitriou, A., Papapetropoulos, T. H., Divari, R., Hadjigeorgiou, G. M., Anastasopoulos, I., Sansone, V., Rotondo, G., Meola, G., Rigoletto, C., Messina, S., Szwabowska-Orzeszko, E., Jozwiak, S., Michalowicz, R., Szaplyko, W., Petrella, M. A., Della Marca, G., Masullo, G., Mennuni, G. F., Kompf, D., Wascher, E., Verleger, R., Kaido, M., Soga, F., Toyooka, H., Bayon, C., Rubio, J., Carlomagno, S., Parlato, V., Santoro, A., Lavarone, A., Bonavita, V., Pentore, R., Venneri, A., Pasquier, F., Lebert, F., Grymonprez, L., Lefebvre, C., Van der Linden, M., Derouesné, C., Renault, B., Lacomblez, L., Homeyer, P., Ouss, L., Neuman, E., Malbezin, M., Barrandon, S., Guez, D., Stevens, M., van Swieten, J. C., Franke, C. L., Sanchez, A., Castellvirel, S., Mila, M., Jimenez, D., Pallesta, F., Ruiz, P. J. Garcia, Barrio, A., Barroso, T., Benitez, J., de Yebenes, J. Garcia, Manubens, J. M., Martinez-Lage, J. M., Larumbe, R., Muruzabal, J., Lacruz, F., Quesada, Pedro, Gallego, J., Ferini-Strambi, L., Marcone, A., Garancini, P., Tedesi, B., Jacob, B., Rozewicz, L., Langdon, D., Davie, C., Ron, M., Thompson, A., Koepp, M. J., Hansen, M. L., Guldin, B., Pressler, R. M., Ried, S., Scholz, C., Monaco, F., Gianelli, M., Schiavalla, M. P., Naldi, P., Cantello, R., Torta, R., Verze, L., Mutani, R., Knott, H., Ferbert, A., Schulze-Bonhage, A., Aust, W., Di Mascio, R., Marchioli, R., Vitullo, F., Di Pasquale, A., Sciulli, L., Kramer, V., Tognoni, G., Santacruz, P., Lopez, R., Marti, M. J., Charques, I., Catafau, A., Lomeila, F., Peila, J., Bertran, I., Blesa, R., Krendel, D. A., Costiga, D. A., Koeppen, S., Korn, W. M., Brugge, S., Schmitz, D., Scheulen, M. E., King, R. H. M., Robertson, A. M., Thomas, P. K., Kerkhofs, A., Vermersch, P., Dereeper, O., Daems Monpeun, C., Parent, M., Deplanque, D., Petit, H., Campero, M., Serra, J., Ochoa, J. L., Martinez-Matos, J. A., Montero, J., Olivé, M., Rene, R., Vidaller, A., Gugenheim, M., Gouider, R., Le Guern, E., Brice, A., Agid, Y., Bouche, P., Grisold, W., Ziflo, U., Drlicek, M., Budka, H., Jellinger, K., Zielinski, C. H., Ginsberg, L., King, R. H. M., Workman, J., Platts, A. D., Thomas, P. K., Gherardi, R. K., Florea-Strat, A., Poron, F., Sabourin, J. -C., Fazio, R., Nemni, R., Franceschi, M., Lorenzetti, I., Rinaldi, L., Canal, N., Weilbach, F. X., Sennlaub, A., Jung, S., Gold, R., Toyka, K. V., Hartung, H. P., Giegerich, G., Ellie, E., Vital, A., Steck, A. J., Vital, C., Julien, J., Doneda, P., Pizzul, S., Scarpini, E., Chiodi, P., Ramacci, M. T., Livraghi, S., Maimone, D., Annunziata, P., Salvadori, C., Guazzi, G. C., Arne-Bes, M. C., Delisle, M. B., Fabre, N., Hurtevent, J. F., Bes, A., Baudoin-Martin, D., Laborde, E., Viallet, F., Creisson, C., Crespi, V., Bogliun, G., Marzorati, L., Zincone, A., D'Angelo, L., Liberani, A., Merlini, M., Rivolta, R., Creange, A., Sabourin, J. -C., Theodorou, I., Gherardi, R. K., Conti, A. M., Malosio, M. L., Baron, P. L., Scarlato, G., Chorao, R., Rosas, M. J., Leite, I., Callea, L., Donati, E., Bargnani, C., Bud, M., Verdu, E., Navarro, X., Braun, S., Einius, S., Poindron, P., Warier, J. M., Bradley, J., Bekkelund, S. I., Torbergsen, T., Mellgren, S. I., Carlomagno, S., Parlato, V., Santoro, A., Lavarone, A., Boller, F., Bonavita, V., Engelhardt, A., Lörler, H., Robeck, S., Kluglein, C., Comi, G., Avoledo, V., Locatelli, T., Leocani, L., Galardi, G., Magnani, G., Medaglini, S., Chkhikvishvili, T. S., Zangaladze, A., Bratoeva, M., Kovachev, P., Chavdarov, D., Artemis, N., Karacostas, D., Milonas, I., Arpa, J., Lopez-Pajares, R., Cruz-Matinez, A., Sarria, J., Palomo, F., Alonso, M., Rodriguez-Al-barino, A., Lacasa, T., Nos, J., Barreiro, P., Martinez, A. Cruz, Villoslada, C., Alons, M., Taghavy, A., Hamer, H., Kratzer, A., Dethy, S., Pauwels, T., Monclus, M., Luxen, A., Goldman, S., Ziegler, M., Crambes, O., Ragueneau, I., Arnaud, F., Zappia, M., Montesanti, R., Colao, R., Palmieri, A., Branca, D., Nicoletti, G., Rizzo, M., Parlato, G., Quattrone, A., Vanacore, N., Zuchegna, P., Bonifati, V., Meco, G., Scholz, J., Friedrich, H. -J., Rohl, A., Ulm, G., Vieregge, P., Savettieri, G., Rocca, W. A., Meneghini, F., Grigoletto, F., Morgante, L., Reggio, A., Salemi, G., Di Pierri, R., OzckmekÇi, S., Ertan, S., Yeni, N., Apaydin, H., Erkol, G., Kiziltan, G., Denktas, F., Ranoux, D., de Recondo, J., Ostergaard, L., Werdelin, L., Odin, P., Lindvall, O., Dupont, E., Christensen, P. B., Boisen, E., Jensen, N. B., Schmiegelow, M., Ingwersen, S. H., Matias-Guiu, J., Canet, T., Falip, R., Martin, R., Galiano, L., Voloshin, M. Y., Burchinskaya, L. F., Cabrera-Valdivia, F., Jimenez-Jimenez, F. J., Molina, J. A., Fernandez-Calle, P., Vazquez, A., Canizares-Liebana, F., Larumbe-Lobalde, S., Ayuso-Peralta, L., Rabasa, M., Codoceo, R., Arrieta, F. J., Aguilar, M. V., Jorge-Santamaria, A., Martinez-Para, M. C., Alarcon, J., Mateo, D., Gimenez-Roldan, S., Gencheva, E., Tzonev, T. z., Georgiev, G., Petkova, P., Gasparini, M., Vanacore, N., Meco, N. G., de la Sierra, G., Aguado, F., Revilla, M., Varela, L., Rico, H., Feve, A., N'Guyen, J. P., Bathien, N., Fenelon, G., Veroust, J., Cesaro, P., Egersbach, G., Hattig, H., Schelosky, L., Wissel, J., Poewe, W., Durif, F., Albuisson, E., Debilly, B., Tournilhac, M., Magnani, C., Mocellini, C., Soffietti, R., Schiffer, D., Cardozo, A., Cruz-Sanchez, F. F., Falip, L., Potagas, G., Ziegler, M., Rondot, P., Bonifati, V., Fabrizio, E., Meco, G., Bostantjopoulou, S., Katsarou, Z., Kyriazis, G., Baas, H., Demisch, L., Esser, A., Zoeller, F., Burklin, F., Harder, S., Fischer, P. A., Arcusa, M. J., Hermandez, S., Claramonte, F. J., Pascual, A. Pascual- Leone, Alonso, M. D., Catata, M. D., Alessandri, A., Giustini, P., Dufour, A., Ciusani, E., Nespolo, A., Roelcke U., Radu E. W., von Ammon K., Maguire R. P., Leenders K. L., Radionova, M., Chavdarov, D., Bratoeva, M., Tzekov, Ch., Pietrangeli, A., Bove, L., Pace, A., Falqui, L., Jandolo, B., Potemkowski, A., Muller B., Reinhard I., Krone A., Warmuth M., Brocker E. M., Krauseneck P., Meyding-Lamadé, U., Krieger, D., Sartor, K., Hacke, W., Maugard-Louboutin, C., Fayet, G., Sagan, C., Martin, S., Ménégalli, D., Lajat, Y., Resche, F., Koriech, O. M., Al Moutaery, K., Yaqub, B., Jochens, R., Wolters, A., Venz, S., Cordes, M., Hecht, B. K., Chatel, M., Gaudray, P., Turc-Carel, C., Gioanni, J., Ayraud, N., Hecht, F., Rumbach, L., Racadot, E., Bataillard, M., Billot, M., Pariset, J., Wijdenes, J., Montalban, Rio J., Tintoré, M., Galan, I., Acarin, N., Rapaport, S., Huberman, M., Shechtcr, D., Karabudak, R., Kilinc, M., Boyacigil, S., Cila, A., Polo, J. M., Setien, S., Sanchez, R., Figols, J., Zubimendi, A., Nadareishvili, Z. G., Massot, R., Marés, R., Gallecho, F., Richart, C., Hernandez, M. A., Garcia, M. R., Lorenzo, J. N., Leon, C., Muros, M., Togores, J., Kutluk, K., Damlacik, G. A., Tekinsoy, B., Obuz, O., Baklan, B., Idiman, E., Genc, K., Zielasek, J., Schmidt, B., Liew, F. Y., Gulay, Z., Yulug, N., Wong, K. S., Wong, T. W., Yu, T. S., Kay, R., Poupon, R., Giral, P., Roberti, C., Zanette, E. M., Chiarotti, F., Brusa, L., Cerbo, R., Prusinski, A., Pondal, M., Canton, R., Dominigo, Erodriguez J., Pereira Monteino J. M., Pereira Monteino X., Pardo, J., Carroacedo, A., Barros, F., Lema, M., Castillo, J., Melchor, A., Montiel, I., Guiu, J. Matias, Kloss, T. M., Keidel, M., Jacob, M., Idiman, F., Idman, E., Ozturk, V., Metin, E., Yilmaz, M., Gerard, J. M., Bouton, R., Decamps, D., Herbaut, A. G., Delecluse, F., Cavenaile, M., Divano, L., Chazot, G., Boureau, F., Emile, J., Bertin, L., d'Allens, H., Ferro, J. M., Costa, I., Carletto, F., Catarci, T., Padovani, A., Iandolo, B., Bartoli, M., Bonamini, M., Pulcinelli, F., Pignatelli, P., Russo, M., Gazzaniga, P. P., Barros, J., Pinheiro, J., Correia, A. P., Monteiro, J. M. Pereira, Alvarez-Cermeno, J. C., Avello, G., Sastre, J. L., Vecino, A., Cesar, J. M., Leone, M., Stankov, B., D'Amico, D., Maltempo, C., Moschian, F., Fraschini, F., Bussone, G., Molto, J. M., Fernandez, E., Fernandez, A. Morento, Barreiro, A., Siclia, J., Castejon, P., Mihout, B., Malberin, M., Salzman, V., Bogousslavsky, J., Meneghetti, G., Baracchini, C., Bozzato, G., Marini, B., Mendel, T., Czlonkowska, A., Pasierski, T., Szwed, H., Marta-Moreno, J., Lopez-Delval, J., Mostacero, E., Morales, F., Mahagne, M. H., Rogopoulos, A., Bertrand, F., Bedoucha, P., Lanteri-Minet, M., Riva, D., Zorzi, C., Milani, N., Vajsar, J., Ronen, G., Macgregor, D., Becker, L., Susseve, J., Seidl, Z., Faber, J., Obenberger, J., Springer, R., Bax, R. T., Eckardt, T., Czettritz, G. V., Emmrich, P., Vlaski-Jekic, S., Petrova, V., Cherninkova, S., Gudeva, T., Tzekov, C., Devoti, M., Franceschetti, S., Mientus, S., Vienna, P., Vashtang, Y., Tazir, M., Assami, S., Oulbani, D., Kaci Ahmed, M. Ait, Andersen, G., Vestergaard, K., Riis, J. O., Chavdarov, D., Corbo, M., Previtali, S., Allen, R. R., McKay, W. C., Rowbotham, M. C., Castellvi-Pel, S., Banchs, I., Kruyer, H., Corral, J., Saugeir-Veber, P., Munnich, A., Bonneau, D., Rozet, J. M., Le Merrer, M., Boespflug-Tanguy, O., Gokyigit, A., Oktem, O., Demir, G., Caliskan, A., Gardiner, R. M., Shorvon, Simon, Wieser, Heinz -Gregor, Hossmann, K. A., Steinberg, A., van Crevel, H., Ducros, A., Labauge, P., Pinsard, N., Ponsot, G., Gouttiere, F., Gastaut, J. L., Delrieu, O., BesanÇon, V., Klopstock, T., May, A., Seibel, P., Papagiannuli, E., Reichmann, H., Gurses, C., Aykut, C., Aktan, S., De Vuono, G., Fiacco, F., Gazzaniga Pozzill, P. P., Assuerus, V., Jacomet, C., Picard, O., Rozenbaum, W., Nueckel, M., Osschmann, P., Horning, C. R., Caldarelli-Stefano, R., Omodeo-Zorini, E., Rivolta, G. E., Maserati, R., Cagni, A., Ferrante, P., Lamadé, W., Heb, Th., Gosztonyl, G., Daral, G., Fresquet, C., Storch-Hagenlocher, B., Wildemann, B., Jager, G., Fuhry, L., Van Paesschen, W., Grunewald, R. A., Duncan, J. S., Connelly, A., Jackson, G. D., Sisodiya, S., Raymond, A. A., Shorvon, S. D., Fish, D. R., Stevens, J. M., Savic, I., Pauli, S., Thorell, J. O., Browne, R. H., Kornhuber, J., Retz, W., Riederer, P., Boon, F., Calliauw, L., Hoksergen, I., Thiery, E., Caemert, J., Decoo, D., Desomer, A., Chevalier, Y., Grinspan, A., Hirsch, E., Moszkowski, J., Marescaux, C., Yaqub, B. A., Valdueza, J. M., Puchner, M. J. A., Dammann, O., Vortmeyer, A., Herrmann, H. -D., Peterson, W., Prevett, M. C., Cunningham, V., Brooks, D. J., Pomes, A., Sunol, C., Durwen, H. F., Confavreux, Ch., Grimaud, J., Saddier, P., Moreau, T., Cortinovis-Tourniaire, P., Aimard, G., Adeleine, P., Paty, D. W., Wiles, C. M., Midgard, R., Riise, T., Kvale, G., Nyland, H., Stodal, H., Haase, A., Lassmann, H., Deeb, S. M. Al., Bruyn, G. W., Semana, G., Teisserenc, H., Alizadeh, M., Loiseau, P., Birebent, B., Yaouanq, J., Genetet, B., Sabouraud, O., Charron, D. J., Shaw, C. E., Stelmasiak, C., Solski, J., Nowicki, J., Jakubowska, B., Ryba, M., Grieb, P., Garcia-Merino, A., Usuku, K., Yunis, E., Alper, C., Hauser, S. L., Betuel, H., Gebuhrer, L., Salier, J. P., Kellar-Wood, H., Govan, G. G., Bromberg, J. E. C., Rinkel, G. J. E., Algra, A., Moulin, T., Stojkovic, T., Chavrot, D., Klotzsch, C., Kaiser-Rub, K., Nahser, H. C., Klijn, C. J. M., Tulleken, C. A. F., Rappelle, L. J., Daffertshofer, M., Kother, J., Hornig, C. R., Rust, D. S., Busse, O., Laun, A., Corabianu, O., Berbinschi, A., Chastang, C., Cophignon, J., Haguenau, M., Ketelslegers, J. M., Jander, S., Kramer, M., Schröter, M., Witte, O. W., Stoll, G., Möbner, R., Barak, V., Sarova-Ponchas, I., Holon, Le Coz, P., Woimant, F., George, B., Merland, J. J., Chleide, E., Casademont, J., Barrientos, A., Cardellach, F., Cervantes, F., Grau, J. M., Montoya, J., Rozman, C., Urbano-Marquez, A., Nunes, V., Lane, R. J. M., Archard, L. C., Schapira, A. H. V., Cooper, J. M., Barnes, P. R. J., Kemp, G. 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12. Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency
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Bertini, E., Dionisi-Vici, C., Garavaglia, B., Burlina, A. B., Sabatelli, M., Rimoldi, M., Bartuli, A., Sabetta, G., and DiDonato, S.
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13. Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion
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Poggi, G. M., Lamantea, E., Ciani, F., Donati, M. A., Carrara, F., Bartalena, L., Garavaglia, B., and Zammarchi, E.
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14. Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency
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Invernizzi, F., Burlina, A. B., Donadio, A., Giordano, G., Taroni, F., and Garavaglia, B.
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15. Muscle cytochromec oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype
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Garavaglia, B., Colamaria, V., Carrara, F., Tonin, P., Rimoldi, M., and Uziel, G.
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16. Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency
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Ruitenbeek, W, Poels, P J E, Turnbull, D M, Garavaglia, B, Chalmers, R A, Taylor, R W, and Gabreels, F J M.
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17. Impulsive control behaviours in patients with GBA, PARK2 and without mutations in genes associated to Parkinson disease
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Amami, P., De Santis, T., Garavaglia, B., and Albanese, A.
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- Full Text
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18. Primary carnitine deficiency: heterozygote and intrafamilial phenotypic variation
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Garavaglia, B., Uziel, G., Dworzak, F., Carrara, F., and DiDonato, S.
- Subjects
Carnitine -- Physiological aspects ,Cardiomyopathy -- Case studies ,Hypoglycemia -- Case studies ,Genetic disorders -- Case studies ,Muscle diseases ,Health ,Psychology and mental health - Abstract
As its name might suggest, carnitine was first discovered by biochemists studying the chemical constituents of meat. It is now known that carnitine is critical for the normal metabolism of fatty acids. A deficiency of carnitine can lead to pathologic changes in the heart muscle (cardiomyopathy) or in skeletal muscles (myopathy). A variety of different causes may lead to carnitine deficiency; some are acquired, while others seem to be inherited. The form of the disease called primary carnitine deficiency appears to be inherited as a recessive trait and symptoms generally appear in childhood. Laboratory studies have shown that the cells of these patients cannot normally transport carnitine across their membranes; clinical observations indicate that patients generally show dramatic response to carnitine supplementation. The authors present the cases of two boys, from two different families, with primary carnitine deficiency. One of the patients developed cardiomyopathy and myopathy, while the other patient developed hypoglycemia (low blood sugar) and myopathy. Fibroblasts, cells which may be obtained from a skin biopsy and are easy to grow in the laboratory, were tested for their ability to transport carnitine; carnitine transport was negligible in both patients, consistent with their ailment. When the parents were tested, the carnitine transport was about half normal, which might be expected since the parents carry one healthy gene and one defective gene. The brother of one patient had cardiomyopathy without having full-fledged carnitine deficiency detected by laboratory tests, while a brother of the boy without cardiomyopathy had died of cardiomyopathy. These observations indicate that the clinical symptoms of cardiomyopathy may be highly variable. (Consumer Summary produced by Reliance Medical Information, Inc.)
- Published
- 1991
19. Corrigendum to “Restless legs syndrome in NKX2-1-related chorea: An expansion of the disease spectrum” [Brain Dev. 41 (2019) 250–256]
- Author
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Iodice, A., Carecchio, M., Zorzi, G., Garavaglia, B., Spagnoli, C., Salerno, G.G., Frattini, D., Mencacci, N.E., Invernizzi, F., Veneziano, L., Mantuano, E., Angriman, M., and Fusco, C.
- Published
- 2019
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20. Molecular studies of childhood onset primary dystonias in Italy
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Garavaglia, B., Invernizzi, F., Nardocci, N., Zorzi, G., Girotti, F., and Zeviani, M.
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Dystonia -- Genetic aspects ,Muscle diseases -- Genetic aspects ,Biological sciences - Published
- 2000
21. Beneficial effect of sodium dichloroacetate in muscle cytochrome C oxidase deficiency
- Author
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Burlina, A. B., Milanesi, O., Biban, P., Bordugo, A., Garavaglia, B., Zacchello, F., and Di Mauro, S.
- Published
- 1993
- Full Text
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22. A case of Refsum disease with atypical clinical picture in family members
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Marano R., Soliveri P., Garavaglia B., Antonelli A., and Girotti F.
- Published
- 1989
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23. P1027: Neurophysiological findings in patients with ceroid lipofuscinosis due to CLN6 mutations
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Canafoglia, L., Gilioli, I., Granata, T., Binelli, S., Garavaglia, B., Berkovic, S., Nardocci, N., and Franceschetti, S.
- Published
- 2014
- Full Text
- View/download PDF
24. Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency.
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Nardocci N, Zorzi G, Blau N, Fernandez Alvarez E, Sesta M, Angelini L, Pannacci M, Invernizzi F, Garavaglia B, Nardocci, N, Zorzi, G, Blau, N, Fernandez Alvarez, E, Sesta, M, Angelini, L, Pannacci, M, Invernizzi, F, and Garavaglia, B
- Published
- 2003
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25. Mutation screening of the DYT6/THAP1 gene in Italy.
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Bonetti M, Barzaghi C, Brancati F, Ferraris A, Bellacchio E, Giovanetti A, Ialongo T, Zorzi G, Piano C, Petracca M, Albanese A, Nardocci N, Dallapiccola B, Bentivoglio AR, Garavaglia B, and Valente EM
- Abstract
Mutations in the THAP1 gene on chromosome 8p21-p22 (DYT6 locus) have been recently reported as causative of autosomal dominant primary torsion dystonia (PTD) in four Amish-Mennonite families and in 12 additional probands of different ancestry. We sequenced the THAP1 gene in 158 patients with DYT1-negative PTD who had onset of symptoms below 30 years and/or positive family history. One sporadic Greek male patient, aged 57 years, was found to carry a novel heterozygous missense variant in THAP1 exon 3 (p.Cys170Arg), of likely pathogenic significance. This subject first presented with right writer's cramp at age of 10 years and, subsequently, developed left arm dystonia and an extremely severe left laterocollis, without further spreading to other body districts. Our findings expand the genotypic spectrum of THAP1 and strengthen the association with upper body involvement, including the cranial and cervical districts that are usually spared in DYT1-PTD. (c) 2009 Movement Disorder Society. [ABSTRACT FROM AUTHOR]
- Published
- 2009
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26. A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome.
- Author
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Marelli C, Canafoglia L, Zibordi F, Ciano C, Visani E, Zorzi G, Garavaglia B, Barzaghi C, Albanese A, Soliveri P, Leone M, Panzica F, Scaioli V, Pincherle A, Nardocci N, and Franceschetti S
- Abstract
Mutations in the epsilon-sarcoglycan (SGCE) gene have been associated with DYT11 myoclonus-dystonia syndrome (MDS). The aim of this study was to characterize myoclonus in 9 patients with DYT11-MDS presenting with predominant myoclonus and mild dystonia by means of neurophysiological techniques. Variously severe multifocal myoclonus occurred in all of the patients, and included short (mean 89.1 +/- 13.3 milliseconds) electromyographic bursts without any electroencephalographic correlate, sometimes presenting a pseudo-rhythmic course. Massive jerks could be evoked by sudden stimuli in 5 patients, showing a 'startle-like' muscle spreading and latencies consistent with a brainstem origin. Somatosensory evoked potentials and long-loop reflexes were normal, as was silent period and long-term intracortical inhibition evaluated by means of transcranial magnetic stimulation; however, short-term intracortical inhibition revealed subtle impairment, and event-related synchronization (ERS) in the beta band was delayed. Blink reflex recovery was strongly enhanced. Myoclonus in DYT11-MDS seems to be generated at subcortical level, and possibly involves basal ganglia and brainstem circuitries. Cortical impairment may depend from subcortical dysfunction, but it can also have a role in influencing the myoclonic presentation. The wide distribution of the defective SCGE in DYT11-MDS may justify the involvement of different brain areas. [ABSTRACT FROM AUTHOR]
- Published
- 2008
- Full Text
- View/download PDF
27. Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation.
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Hartig MB, Hörtnagel K, Garavaglia B, Zorzi G, Kmiec T, Klopstock T, Rostasy K, Svetel M, Kostic VS, Schuelke M, Botz E, Weindl A, Novakovic I, Nardocci N, Prokisch H, and Meitinger T
- Published
- 2006
28. Imaging of dopaminergic dysfunction with [123I]FP-CIT SPECT in early-onset parkin disease.
- Author
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Varrone, A, Pellecchia, M T, Amboni, M, Sansone, V, Salvatore, E, Ghezzi, D, Garavaglia, B, Brice, A, Brunetti, A, Bonavita, V, De Michele, G, Salvatore, M, Pappatà, S, and Barone, P
- Published
- 2004
- Full Text
- View/download PDF
29. Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides.
- Author
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Donato, S. Di, Garavaglia, B., Strisciuglio, P., Borrone, C., and Andria, G.
- Published
- 1988
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30. Bilateral striatal necrosis, dystonia and optic atrophy in two siblings.
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Leuzzi, V, Bertini, E, De Negri, A M, Gallucci, M, and Garavaglia, B
- Abstract
Two siblings developed a neurological disorder in the first decade characterised by generalised dystonia, hypokinesia, and subacute visual loss. CT and serial MRI examinations showed bilateral lesions of the striatum, mainly in the putamen. The classification of these patients is discussed in relation to infantile bilateral striatal necrosis (IBSN), Leigh's disease, and Leber's optic neuropathy. The literature shows a clinical and aetiopathogenetic overlap between these syndromes. In our cases parental consanguinity and the involvement of a single generation suggest a new clinical condition with autosomal recessive transmission. [ABSTRACT FROM AUTHOR]
- Published
- 1992
31. Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency.
- Author
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Antozzi, C., Garavaglia, B., Mora, M., Rimoldi, M., Morandi, L., Ursino, E., and DiDonato, S.
- Published
- 1994
- Full Text
- View/download PDF
32. P3.030 GBA mutations and Parkinson disease in Italian population
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D'Angelo, R., Barzaghi, C., Giovanetti, A., Albanese, A., Goldwurm, S., and Garavaglia, B.
- Published
- 2009
- Full Text
- View/download PDF
33. P2.062 MLPA analysis in EOP patients
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Barzaghi, C., Giovanetti, A., Reale, C., Sequeiros, J., Nardocci, N., Albanese, A., and Garavaglia, B.
- Published
- 2009
- Full Text
- View/download PDF
34. G.P.3.12 Riboflavin-Responsive multiple Acyl-CoA dehydrogenation deficiency (MADD-RR): Clinical, biochemical, molecular genetic and 31 P-MRS studies
- Author
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Toscano, A., Nishino, I., Garavaglia, B., Musumeci, O., Lodi, R., Barbiroli, B., Liang, W.C., and Vita, G.
- Published
- 2008
- Full Text
- View/download PDF
35. Infantile neuroaxonal dystrophy and pantothenate-kinase-associated neurodegeneration: locus heterogeneity.
- Author
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Hörtnagel, K, Nardocci, N, Zorzi, G, Garavaglia, B, Botz, E, Meitinger, T, and Klopstock, T
- Published
- 2004
- Full Text
- View/download PDF
36. Primary carnitine deficiency.
- Author
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Garavaglia, B., Uziel, G., Dworzak, F., Carrara, F., and DiDonato, S.
- Published
- 1991
- Full Text
- View/download PDF
37. Sudden infant death and multiple acyl-CoA dehydrogenation disorders.
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Parini, Rossella, Vegni, Chiara, Martini, Jvana, Romeo, Antonino, Garavaglia, Barbara, Parini, R, Vegni, C, Martini, J, Romeo, A, and Garavaglia, B
- Subjects
FAMILY health ,OXIDOREDUCTASES ,SUDDEN infant death syndrome - Published
- 1995
- Full Text
- View/download PDF
38. P18.6 Neurodegeneration with brain iron accumulation due to PANK2 mutation in a young child.
- Author
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Biancheri, R., Rossi, D., De Grandis, E., Barzaghi, C., Mascaretti, M., Garavaglia, B., Zanotto, E., and Morana, G.
- Published
- 2011
- Full Text
- View/download PDF
39. Determination of Ambroxol Levels in Plasma and Cerebrospinal Fluid by Online Solid-Phase Extraction Coupled with Liquid Chromatography-Tandem Mass Spectrometry in GBA-Parkinson Disease Patients.
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Franco, V., Palmisani, M., Colucci, F., De Micco, R., Aloisio, S., Cazzaniga, F., Cerri, S., Cuconato, G., Devigili, G., Franciotta, D., Eleopra, R., Elia, A., Garavaglia, B., Andreasi, N. Golfrè, Invernizzi, F., Leta, V., Moda, F., Mitrotti, P., Picascia, M., and Reale, C.
- Subjects
- *
LIQUID chromatography-mass spectrometry , *SOLID phase extraction , *CEREBROSPINAL fluid - Published
- 2024
- Full Text
- View/download PDF
40. Establishing a human neuronal derived-iPSC model to clarify the pathogenetic mechanism for PKAN.
- Author
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Orellana Riquelme, D., Santambrogio, P., Rubio Garrido, A., Cancellieri, C., Venco, P., Taverna, S., Tiranti, V., Garavaglia, B., Broccoli, V., and Levi, S.
- Subjects
- *
INDUCED pluripotent stem cells , *NEURON analysis , *NEUROLOGY conferences , *PROTEOMICS , *NEUROSCIENCES - Published
- 2015
- Full Text
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41. Causative Role of the SLC6A1 p.Asp451Gly Variant in a Patient with Combined Dystonia and Neurodevelopmental Disorder.
- Author
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Romito LM, Colucci F, Leta V, Panteghini C, Telese R, Tolva G, Villa R, Elia AE, Eleopra R, Peron A, Garavaglia B, and Iascone M
- Published
- 2024
- Full Text
- View/download PDF
42. Three-Dimensional In Vitro Cell Cultures as a Feasible and Promising Alternative to Two-Dimensional and Animal Models in Cancer Research.
- Author
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Esposito A, Ferraresi A, Vallino L, Garavaglia B, Dhanasekaran DN, and Isidoro C
- Subjects
- Animals, Humans, Cell Culture Techniques methods, Cell Culture Techniques, Three Dimensional methods, Disease Models, Animal, Mice, Neoplasms pathology
- Abstract
Cancer represents one of the diseases with the highest mortality rate worldwide. The burden of cancer continues to increase, not only affecting the health-related quality of life of patients but also causing an elevated global financial impact. The complexity and heterogeneity of cancer pose significant challenges in research and clinical practice, contributing to increase the failure rate of clinical trials for antitumoral drugs. This is partially due to the fact that preclinical models still present important limitations in faithfully recapitulating human tumors to serve as reliable indicators of drug effectiveness. Up to now, research and development strategies employ expensive animal models (including the so-called "humanized mice") that not only raise ethical concerns, but also frequently fail to accurately predict responses to anticancer drugs because they do not faithfully replicate human physiology as well as the patient's tumor microenvironment. On the other side, traditional two-dimensional (2D) cell cultures fail to adequately reproduce the structural organization of tumor and the cellular heterogeneity found in vivo. The growing necessity to develop more accurate cancer models has increasingly emphasized the importance of three-dimensional (3D) in vitro cell cultures, such as cancer-derived spheroids and organoids, as promising alternatives to bridge the gap between 2D and animal models. In this review, we provide a brief overview focusing on 3D in vitro cell cultures as preclinical models capable of properly reproducing the tissue organization, biological composition, and complexity of in vivo tumors in a fine-tuned microenvironment. Despite their limitations, these models collectively enhance our understanding of the mechanisms underlying cancer and may offer the potential for a more reliable assessment of drug efficacy before clinical testing and, consequently, improve therapeutic outcomes for cancer patients., Competing Interests: Competing Interests: The authors have declared that no competing interest exists., (© The author(s).)
- Published
- 2024
- Full Text
- View/download PDF
43. Exploring the Impact of Sex and Gender in Brain Function: Implications and Considerations.
- Author
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Gualtierotti R, Bressi C, Garavaglia B, and Brambilla P
- Subjects
- Humans, Male, Female, Sex Factors, Sex Characteristics, Animals, Precision Medicine, Neuroimaging, Mental Disorders physiopathology, Brain physiology
- Abstract
Introduction: Sex and gender are crucial variables in understanding brain development and disease. Biological sex is determined by genetic and hormonal factors, whereas gender is a multidimensional construct shaped by social and cultural influences. The interplay of these factors contributes to sex-specific susceptibilities and disease progression in psychiatric and neurological disorders. However, sex and gender are often considered as a single variable, which can lead to biased data analysis and interpretation. This commentary aims to analyze how sex and gender influence brain structure and function, with implications for personalized medicine, research, and the development of gender-sensitive clinical guidelines., Methods: Findings from various studies employing neuroimaging techniques and animal models are discussed, as well as the impact of biological sex, gender, environmental, cultural, and social factors on brain development, organization, and behavior., Results: Evidence suggests that sex differences in brain structure and function are not only genetically determined but are also influenced by gender-related experiences and societal contexts. Importantly, discrepancies between male and female brains are reduced in gender-equal societies. Preclinical studies play a pivotal role in determining the influence of biological sex, independent of gender, in different disease models., Conclusion: The findings underscore the need to consider both sex and gender in research and clinical practice to avoid biases and promote equitable health outcomes. Moving forward, we advocate for gender-sensitive approaches to be integrated into brain research and in clinical guidelines to achieve personalized and precision medicine., (© 2024. The Author(s).)
- Published
- 2024
- Full Text
- View/download PDF
44. WDR45-dependent impairment of cell cycle in fibroblasts of patients with beta propeller protein-associated neurodegeneration (BPAN).
- Author
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Garavaglia B, Nasca A, Mitola S, and Ingrassia R
- Subjects
- Humans, Carrier Proteins metabolism, Carrier Proteins genetics, Neuroaxonal Dystrophies metabolism, Neuroaxonal Dystrophies genetics, Neuroaxonal Dystrophies pathology, Mutation, Autophagy genetics, Cells, Cultured, Iron Metabolism Disorders, Fibroblasts metabolism, Cell Cycle genetics, Basic Helix-Loop-Helix Leucine Zipper Transcription Factors metabolism, Basic Helix-Loop-Helix Leucine Zipper Transcription Factors genetics
- Abstract
De novo mutations in the WDR45 gene have been found in patients affected by Neurodegeneration with Brain Iron Accumulation type 5 (NBIA5 or BPAN), with Non-Transferrin Bound Iron (NTBI) accumulation in the basal ganglia and WDR45-dependent impairment of autophagy. Here we show the downregulation of TFEB and cell cycle impairment in BPAN primary fibroblasts. Noteworthy, TFEB overexpression rescued this impairment, depicting a novel WDR45-dependent cell cycle phenotype., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier B.V. All rights reserved.)
- Published
- 2024
- Full Text
- View/download PDF
45. Potassium Channel Subunit Kir4.1 Mutated in Paroxysmal Kinesigenic Dyskinesia: Screening of an Italian Cohort.
- Author
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Zorzi G, Zibordi F, Sorrentino U, Prokisch H, Garavaglia B, and Zech M
- Published
- 2024
- Full Text
- View/download PDF
46. Aceruloplasminemia: Unique Clinical and MRI Findings in a Patient with a Novel Frameshift Mutation.
- Author
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Colucci F, Barca S, Cilia R, De Franco V, Elia AE, Golfrè Andreasi N, Romito L, Telese R, Braccia A, Leta V, Grisoli M, Panteghini C, Garavaglia B, Devigili G, and Eleopra R
- Subjects
- Humans, Iron Metabolism Disorders genetics, Iron Metabolism Disorders diagnosis, Iron Metabolism Disorders diagnostic imaging, Iron Metabolism Disorders pathology, Male, Female, Frameshift Mutation, Magnetic Resonance Imaging, Ceruloplasmin deficiency, Ceruloplasmin genetics, Ceruloplasmin metabolism, Neurodegenerative Diseases genetics, Neurodegenerative Diseases diagnostic imaging, Neurodegenerative Diseases diagnosis, Neurodegenerative Diseases pathology
- Published
- 2024
- Full Text
- View/download PDF
47. Genome Aggregation Database Version 4-New Challenges of Variant Analysis in Movement Disorders.
- Author
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Indelicato E, Romito LM, Harrer P, Golfrè Andreasi N, Colangelo I, Kopajtich R, Winkelmann J, Prokisch H, Garavaglia B, and Zech M
- Subjects
- Humans, Genetic Variation genetics, Movement Disorders genetics, Databases, Genetic
- Published
- 2024
- Full Text
- View/download PDF
48. Illustration of the long-term efficacy of pallidal deep brain stimulation in a patient with PKAN dystonia.
- Author
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Romito LM, Colucci F, Zorzi G, Garavaglia B, Kaymak A, Mazzoni A, Panteghini C, Golfrè Andreasi N, Rinaldo S, Levi V, Carecchio M, and Eleopra R
- Subjects
- Humans, Dystonia therapy, Treatment Outcome, Deep Brain Stimulation methods, Dystonic Disorders therapy, Dystonic Disorders physiopathology, Globus Pallidus
- Abstract
Competing Interests: Declaration of competing interest All authors report no competing interests.
- Published
- 2024
- Full Text
- View/download PDF
49. Pure Parkinsonism as Possible Phenotype Expansion of THAP1-Related Disorders.
- Author
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Ambrosini E, Cancilla R, Paul JJ, Bauer P, Garavaglia B, Barili V, Percesepe A, and Negrotti A
- Subjects
- Female, Humans, Male, Middle Aged, Phenotype, Apoptosis Regulatory Proteins genetics, DNA-Binding Proteins genetics, Nuclear Proteins genetics, Parkinsonian Disorders genetics
- Published
- 2024
- Full Text
- View/download PDF
50. CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
- Author
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van Karnebeek CDM, Tarailo-Graovac M, Leen R, Meinsma R, Correard S, Jansen-Meijer J, Prykhozhij SV, Pena IA, Ban K, Schock S, Saxena V, Pras-Raves ML, Drögemöller BI, Grootemaat AE, van der Wel NN, Dobritzsch D, Roseboom W, Schomakers BV, Jaspers YRJ, Zoetekouw L, Roelofsen J, Ferreira CR, van der Lee R, Ross CJ, Kochan J, McIntyre RL, van Klinken JB, van Weeghel M, Kramer G, Weschke B, Labrune P, Willemsen MA, Riva D, Garavaglia B, Moeschler JB, Filiano JJ, Ekker M, Berman JN, Dyment D, Vaz FM, Wasserman WW, Houtkooper RH, and van Kuilenburg ABP
- Subjects
- Animals, Female, Humans, Infant, Male, Cytosol metabolism, Fibroblasts metabolism, Fibroblasts pathology, Metallochaperones, Microcephaly genetics, Microcephaly pathology, Neurodegenerative Diseases genetics, Neurodegenerative Diseases metabolism, Neurodegenerative Diseases pathology, Phenotype, Iron-Sulfur Proteins genetics, Iron-Sulfur Proteins metabolism, Zebrafish, Transcription Factors genetics, Transcription Factors metabolism
- Abstract
Purpose: The functionality of many cellular proteins depends on cofactors; yet, they have only been implicated in a minority of Mendelian diseases. Here, we describe the first 2 inherited disorders of the cytosolic iron-sulfur protein assembly system., Methods: Genetic testing via genome sequencing was applied to identify the underlying disease cause in 3 patients with microcephaly, congenital brain malformations, progressive developmental and neurologic impairments, recurrent infections, and a fatal outcome. Studies in patient-derived skin fibroblasts and zebrafish models were performed to investigate the biochemical and cellular consequences., Results: Metabolic analysis showed elevated uracil and thymine levels in body fluids but no pathogenic variants in DPYD, encoding dihydropyrimidine dehydrogenase. Genome sequencing identified compound heterozygosity in 2 patients for missense variants in CIAO1, encoding cytosolic iron-sulfur assembly component 1, and homozygosity for an in-frame 3-nucleotide deletion in MMS19, encoding the MMS19 homolog, cytosolic iron-sulfur assembly component, in the third patient. Profound alterations in the proteome, metabolome, and lipidome were observed in patient-derived fibroblasts. We confirmed the detrimental effect of deficiencies in CIAO1 and MMS19 in zebrafish models., Conclusion: A general failure of cytosolic and nuclear iron-sulfur protein maturation caused pleiotropic effects. The critical function of the cytosolic iron-sulfur protein assembly machinery for antiviral host defense may well explain the recurrent severe infections occurring in our patients., Competing Interests: Conflict of Interest The authors declare no conflicts of interest., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)
- Published
- 2024
- Full Text
- View/download PDF
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