Garavaglia B - Search Results

1

Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.

Dusi S, Valletta L, Haack TB, Tsuchiya Y, Venco P, Pasqualato S, Goffrini P, Tigano M, Demchenko N, Wieland T, Schwarzmayr T, Strom TM, Invernizzi F, Garavaglia B, Gregory A, Sanford L, Hamada J, Bettencourt C, Houlden H, Chiapparini L, Zorzi G, Kurian MA, Nardocci N, Prokisch H, Hayflick S, Gout I, Tiranti V. Dusi S, et al. Among authors: garavaglia b. Am J Hum Genet. 2014 Jan 2;94(1):11-22. doi: 10.1016/j.ajhg.2013.11.008. Epub 2013 Dec 19. Am J Hum Genet. 2014. PMID: 24360804 Free PMC article.

2

Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency.

Pons R, Cavadini P, Baratta S, Invernizzi F, Lamantea E, Garavaglia B, Taroni F. Pons R, et al. Among authors: garavaglia b. Pediatr Neurol. 2000 Feb;22(2):98-105. doi: 10.1016/s0887-8994(99)00132-0. Pediatr Neurol. 2000. PMID: 10738914

3

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: garavaglia b. Mov Disord. 2002 Mar;17(2):407-8. doi: 10.1002/mds.10045. Mov Disord. 2002. PMID: 11921134

4

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. Among authors: garavaglia b. Neurology. 2003 Jan 28;60(2):335-7. doi: 10.1212/01.wnl.0000044049.99690.ad. Neurology. 2003. PMID: 12552057

5

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B, Rinaldo P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M. Tiranti V, et al. Among authors: garavaglia b. Am J Hum Genet. 2004 Feb;74(2):239-52. doi: 10.1086/381653. Epub 2004 Jan 19. Am J Hum Genet. 2004. PMID: 14732903 Free PMC article.

6

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. J Inherit Metab Dis. 2004;27(4):455-63. doi: 10.1023/B:BOLI.0000037349.08483.96. J Inherit Metab Dis. 2004. PMID: 15303002

7

Infantile neuroaxonal dystrophy and pantothenate-kinase-associated neurodegeneration: locus heterogeneity.

Hörtnagel K, Nardocci N, Zorzi G, Garavaglia B, Botz E, Meitinger T, Klopstock T. Hörtnagel K, et al. Among authors: garavaglia b. Neurology. 2004 Sep 14;63(5):922-4. doi: 10.1212/01.wnl.0000137046.28085.b2. Neurology. 2004. PMID: 15365152

8

Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.

Iacobazzi V, Invernizzi F, Baratta S, Pons R, Chung W, Garavaglia B, Dionisi-Vici C, Ribes A, Parini R, Huertas MD, Roldan S, Lauria G, Palmieri F, Taroni F. Iacobazzi V, et al. Among authors: garavaglia b. Hum Mutat. 2004 Oct;24(4):312-20. doi: 10.1002/humu.20085. Hum Mutat. 2004. PMID: 15365988

9

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: garavaglia b. Ann Neurol. 2006 Feb;59(2):248-56. doi: 10.1002/ana.20771. Ann Neurol. 2006. PMID: 16437574

10

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. Among authors: garavaglia b. Mov Disord. 2008 Jan;23(1):28-34. doi: 10.1002/mds.21715. Mov Disord. 2008. PMID: 17853490 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

235 results

Search Page

Filters