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Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 601, doi. 10.1023/A:1012476029536
By:
- Invernizzi, F.;
- Burlina, A.;
- Donadio, A.;
- Giordano, G.;
- Taroni, F.;
- Garavaglia, B.
Publication type:
Article
Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion.
Published in:
Journal of Inherited Metabolic Disease, 2000, v. 23, n. 7, p. 755, doi. 10.1023/A:1005663804214
By:
- Poggi, G.;
- Lamantea, E.;
- Ciani, F.;
- Donati, M.;
- Carrara, F.;
- Bartalena, L.;
- Garavaglia, B.;
- Zammarchi, E.
Publication type:
Article
Medium-chain triglyceride loading test in carnitine–acylcarnitine translocase deficiency: Insights on treatment.
Published in:
Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 733, doi. 10.1023/A:1005548201355
By:
- Parini, R.;
- Invernizzi, F.;
- Menni, F.;
- Garavaglia, B.;
- Melotti, D.;
- Rimoldi, M.;
- Salera, S.;
- Tosetto, C.;
- Taroni, F.
Publication type:
Article
Trends in Use of Ezetimibe After the ENHANCE Trial, 2007 Through 2010.
Published in:
JAMA Internal Medicine, 2014, v. 174, n. 9, p. 1486, doi. 10.1001/jamainternmed.2014.3404
By:
- Ross, Joseph S.;
- Frazee, Sharon G.;
- Garavaglia, Susan B.;
- Levin, Rebecca;
- Novshadian, Haik;
- Jackevicius, Cynthia A.;
- Stettin, Glen;
- Krumholz, Harlan M.
Publication type:
Article
Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency.
Published in:
1998
By:
- Parini, R.;
- Menni, F.;
- Garavaglia, B.;
- Fesslova, V.;
- Melotti, D.;
- Massone, M. L.;
- Lamantea, E.;
- Rimoldi, M.;
- Vizziello, P.;
- Gatti, R.
Publication type:
journal article
Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency.
Published in:
1998
By:
- Ribes, A.;
- Riudor, E.;
- Garavaglia, B.;
- Martinez, G.;
- Arranz, A.;
- Invernizzi, F.;
- Briones, P.;
- Lamantea, E.;
- Sentís, M.;
- Barceló, A.;
- Roig, M.;
- Sentís, M;
- Barceló, A
Publication type:
journal article
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation.
Published in:
2006
By:
- 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;
- Meitinger T
Publication type:
Journal Article
GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: Identification and functional characterization of four novel mutations.
Published in:
Journal of Inherited Metabolic Disease, 2004, v. 27, n. 4, p. 455, doi. 10.1023/B:BOLI.0000037349.08483.96
By:
- Garavaglia, B.;
- Invernizzi, F.;
- Carbone, M.;
- Viscardi, V.;
- Saracino, F.;
- Ghezzi, D.;
- Zeviani, M.;
- Zorzi, G.;
- Nardocci, N.
Publication type:
Article
R106C TFG variant causes infantile neuroaxonal dystrophy “plus” syndrome.
Published in:
Neurogenetics, 2018, v. 19, n. 3, p. 179, doi. 10.1007/s10048-018-0552-x
By:
- Catania, A.;
- Battini, R.;
- Pippucci, T.;
- Pasquariello, R.;
- Chiapparini, M. L.;
- Seri, M.;
- Garavaglia, B.;
- Zorzi, G.;
- Nardocci, N.;
- Ghezzi, D.;
- Tiranti, V.
Publication type:
Article
Mutation screening of the DYT6/THAP1 gene in Italy.
Published in:
2009
By:
- 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;
- Valente EM
Publication type:
Journal Article
A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome.
Published in:
2008
By:
- 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;
- Franceschetti S
Publication type:
Journal Article

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