Nardocci N - Search Results

1

Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum.

Nicita F, Travaglini L, Sabatini S, Garavaglia B, Panteghini C, Valeriani M, Bertini E, Nardocci N, Vigevano F, Capuano A. Nicita F, et al. Among authors: nardocci n. Parkinsonism Relat Disord. 2016 Sep;30:81-2. doi: 10.1016/j.parkreldis.2016.05.029. Epub 2016 Jun 1. Parkinsonism Relat Disord. 2016. PMID: 27268479 No abstract available.

2

Frequency of DYT1 mutation in early onset primary dystonia in Italian patients.

Zorzi G, Garavaglia B, Invernizzi F, Girotti F, Soliveri P, Zeviani M, Angelini L, Nardocci N. Zorzi G, et al. Among authors: nardocci n. Mov Disord. 2002 Mar;17(2):407-8. doi: 10.1002/mds.10045. Mov Disord. 2002. PMID: 11921134

3

Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency.

Nardocci N, Zorzi G, Blau N, Fernandez Alvarez E, Sesta M, Angelini L, Pannacci M, Invernizzi F, Garavaglia B. Nardocci N, et al. Neurology. 2003 Jan 28;60(2):335-7. doi: 10.1212/01.wnl.0000044049.99690.ad. Neurology. 2003. PMID: 12552057

4

Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity.

Valente EM, Misbahuddin A, Brancati F, Placzek MR, Garavaglia B, Salvi S, Nemeth A, Shaw-Smith C, Nardocci N, Bentivoglio AR, Berardelli A, Eleopra R, Dallapiccola B, Warner TT. Valente EM, et al. Among authors: nardocci n. Mov Disord. 2003 Sep;18(9):1047-51. doi: 10.1002/mds.10476. Mov Disord. 2003. PMID: 14502674

5

GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations.

Garavaglia B, Invernizzi F, Carbone ML, Viscardi V, Saracino F, Ghezzi D, Zeviani M, Zorzi G, Nardocci N. Garavaglia B, et al. Among authors: nardocci n. J Inherit Metab Dis. 2004;27(4):455-63. doi: 10.1023/B:BOLI.0000037349.08483.96. J Inherit Metab Dis. 2004. PMID: 15303002

6

Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation.

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. Hartig MB, et al. Among authors: nardocci n. Ann Neurol. 2006 Feb;59(2):248-56. doi: 10.1002/ana.20771. Ann Neurol. 2006. PMID: 16437574

7

Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.

Cannelli N, Nardocci N, Cassandrini D, Morbin M, Aiello C, Bugiani M, Criscuolo L, Zara F, Striano P, Granata T, Bertini E, Simonati A, Santorelli FM. Cannelli N, et al. Among authors: nardocci n. Neuropediatrics. 2007 Feb;38(1):46-9. doi: 10.1055/s-2007-981449. Neuropediatrics. 2007. PMID: 17607606

8

Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families.

Nardocci N, Zorzi G, Barzaghi C, Zibordi F, Ciano C, Ghezzi D, Garavaglia B. Nardocci N, et al. Mov Disord. 2008 Jan;23(1):28-34. doi: 10.1002/mds.21715. Mov Disord. 2008. PMID: 17853490 Free article.

9

A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome.

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. Marelli C, et al. Among authors: nardocci n. Mov Disord. 2008 Oct 30;23(14):2041-8. doi: 10.1002/mds.22256. Mov Disord. 2008. PMID: 18759336

10

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.

Cannelli N, Garavaglia B, Simonati A, Aiello C, Barzaghi C, Pezzini F, Cilio MR, Biancheri R, Morbin M, Dalla Bernardina B, Granata T, Tessa A, Invernizzi F, Pessagno A, Boldrini R, Zibordi F, Grazian L, Claps D, Carrozzo R, Mole SE, Nardocci N, Santorelli FM. Cannelli N, et al. Among authors: nardocci n. Biochem Biophys Res Commun. 2009 Feb 20;379(4):892-7. doi: 10.1016/j.bbrc.2008.12.159. Epub 2009 Jan 7. Biochem Biophys Res Commun. 2009. PMID: 19135028

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